Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 17253 deletion NM_000551.3(VHL):c.223_225delATC (p.Ile75del) 794729660 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183754 10183756 ATC - 17253 deletion NM_000551.3(VHL):c.223_225delATC (p.Ile75del) 794729660 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142070 10142072 ATC - 17254 single nucleotide variant NM_000551.3(VHL):c.548C>A (p.Ser183Ter) 5030823 MeSH:D002292,MedGen:CN182935;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191555 10191555 C A 17254 single nucleotide variant NM_000551.3(VHL):c.548C>A (p.Ser183Ter) 5030823 MeSH:D002292,MedGen:CN182935;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149871 10149871 C A 17255 single nucleotide variant NM_000551.3(VHL):c.500G>A (p.Arg167Gln) 5030821 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10191507 10191507 G A 17255 single nucleotide variant NM_000551.3(VHL):c.500G>A (p.Arg167Gln) 5030821 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10149823 10149823 G A 17256 single nucleotide variant NM_000551.3(VHL):c.481C>T (p.Arg161Ter) 5030818 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10191488 10191488 C T 17256 single nucleotide variant NM_000551.3(VHL):c.481C>T (p.Arg161Ter) 5030818 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10149804 10149804 C T 17257 single nucleotide variant NM_000551.3(VHL):c.499C>T (p.Arg167Trp) 5030820 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0031511,OMIM:171300;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10191506 10191506 C T 17257 single nucleotide variant NM_000551.3(VHL):c.499C>T (p.Arg167Trp) 5030820 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0031511,OMIM:171300;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10149822 10149822 C T 17258 single nucleotide variant NM_000551.3(VHL):c.499C>G (p.Arg167Gly) 5030820 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191506 10191506 C G 17258 single nucleotide variant NM_000551.3(VHL):c.499C>G (p.Arg167Gly) 5030820 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149822 10149822 C G 17259 single nucleotide variant NM_000551.3(VHL):c.263G>C (p.Trp88Ser) 119103277 MedGen:C1332900;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183794 10183794 G C 17259 single nucleotide variant NM_000551.3(VHL):c.263G>C (p.Trp88Ser) 119103277 MedGen:C1332900;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142110 10142110 G C 17260 single nucleotide variant NM_000551.3(VHL):c.405A>C (p.Leu135Phe) 119103278 MedGen:C1332900 3 10188262 10188262 A C 17260 single nucleotide variant NM_000551.3(VHL):c.405A>C (p.Leu135Phe) 119103278 MedGen:C1332900 3 10146578 10146578 A C 17261 single nucleotide variant NM_000551.3(VHL):c.334T>C (p.Tyr112His) 104893824 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183865 10183865 T C 17261 single nucleotide variant NM_000551.3(VHL):c.334T>C (p.Tyr112His) 104893824 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142181 10142181 T C 17262 single nucleotide variant NM_000551.3(VHL):c.292T>C (p.Tyr98His) 5030809 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183823 10183823 T C 17262 single nucleotide variant NM_000551.3(VHL):c.292T>C (p.Tyr98His) 5030809 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142139 10142139 T C 17263 single nucleotide variant NM_000551.3(VHL):c.496G>T (p.Val166Phe) 104893825 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191503 10191503 G T 17263 single nucleotide variant NM_000551.3(VHL):c.496G>T (p.Val166Phe) 104893825 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149819 10149819 G T 17264 single nucleotide variant NM_000551.3(VHL):c.562C>G (p.Leu188Val) 5030824 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0031511,OMIM:171300;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191569 10191569 C G 17264 single nucleotide variant NM_000551.3(VHL):c.562C>G (p.Leu188Val) 5030824 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0031511,OMIM:171300;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149885 10149885 C G 17265 single nucleotide variant NM_000551.3(VHL):c.191G>C (p.Arg64Pro) 104893826 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0031511,OMIM:171300;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183722 10183722 G C 17265 single nucleotide variant NM_000551.3(VHL):c.191G>C (p.Arg64Pro) 104893826 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0031511,OMIM:171300;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142038 10142038 G C 17266 single nucleotide variant NM_000551.3(VHL):c.188T>C (p.Leu63Pro) 104893827 MedGen:C0031511,OMIM:171300 3 10183719 10183719 T C 17266 single nucleotide variant NM_000551.3(VHL):c.188T>C (p.Leu63Pro) 104893827 MedGen:C0031511,OMIM:171300 3 10142035 10142035 T C 17267 single nucleotide variant NM_000551.3(VHL):c.334T>A (p.Tyr112Asn) 104893824 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183865 10183865 T A 17267 single nucleotide variant NM_000551.3(VHL):c.334T>A (p.Tyr112Asn) 104893824 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142181 10142181 T A 17268 single nucleotide variant NM_000551.3(VHL):c.388G>C (p.Val130Leu) 104893830 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188245 10188245 G C 17268 single nucleotide variant NM_000551.3(VHL):c.388G>C (p.Val130Leu) 104893830 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146561 10146561 G C 17269 single nucleotide variant NM_000551.3(VHL):c.376G>T (p.Asp126Tyr) 104893831 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557 3 10188233 10188233 G T 17269 single nucleotide variant NM_000551.3(VHL):c.376G>T (p.Asp126Tyr) 104893831 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557 3 10146549 10146549 G T 17270 single nucleotide variant NM_000551.3(VHL):c.488T>C (p.Leu163Pro) 28940297 MedGen:C4017161 3 10191495 10191495 T C 17270 single nucleotide variant NM_000551.3(VHL):c.488T>C (p.Leu163Pro) 28940297 MedGen:C4017161 3 10149811 10149811 T C 17271 single nucleotide variant NM_000551.3(VHL):c.598C>T (p.Arg200Trp) 28940298 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809;MedGen:CN169374 3 10191605 10191605 C T 17271 single nucleotide variant NM_000551.3(VHL):c.598C>T (p.Arg200Trp) 28940298 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809;MedGen:CN169374 3 10149921 10149921 C T 17272 single nucleotide variant NM_000551.3(VHL):c.241C>T (p.Pro81Ser) 104893829 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10183772 10183772 C T 17272 single nucleotide variant NM_000551.3(VHL):c.241C>T (p.Pro81Ser) 104893829 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10142088 10142088 C T 17273 single nucleotide variant NM_000551.3(VHL):c.574C>T (p.Pro192Ser) 28940300 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:CN169374 3 10191581 10191581 C T 17273 single nucleotide variant NM_000551.3(VHL):c.574C>T (p.Pro192Ser) 28940300 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:CN169374 3 10149897 10149897 C T 17274 single nucleotide variant NM_000551.3(VHL):c.571C>G (p.His191Asp) 28940301 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557 3 10191578 10191578 C G 17274 single nucleotide variant NM_000551.3(VHL):c.571C>G (p.His191Asp) 28940301 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557 3 10149894 10149894 C G 17275 single nucleotide variant NM_000551.3(VHL):c.250G>T (p.Val84Leu) 5030827 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183781 10183781 G T 17275 single nucleotide variant NM_000551.3(VHL):c.250G>T (p.Val84Leu) 5030827 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142097 10142097 G T 17276 single nucleotide variant NM_000551.3(VHL):c.277G>A (p.Gly93Ser) 5030808 MedGen:C0031511,OMIM:171300;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183808 10183808 G A 17276 single nucleotide variant NM_000551.3(VHL):c.277G>A (p.Gly93Ser) 5030808 MedGen:C0031511,OMIM:171300;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142124 10142124 G A 17277 single nucleotide variant NM_000551.3(VHL):c.491A>G (p.Gln164Arg) 267607170 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191498 10191498 A G 17277 single nucleotide variant NM_000551.3(VHL):c.491A>G (p.Gln164Arg) 267607170 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149814 10149814 A G 45560 single nucleotide variant NM_000551.3(VHL):c.242C>T (p.Pro81Leu) 193922608 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183773 10183773 C T 45560 single nucleotide variant NM_000551.3(VHL):c.242C>T (p.Pro81Leu) 193922608 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142089 10142089 C T 45561 single nucleotide variant NM_000551.3(VHL):c.320G>C (p.Arg107Pro) 193922609 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183851 10183851 G C 45561 single nucleotide variant NM_000551.3(VHL):c.320G>C (p.Arg107Pro) 193922609 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142167 10142167 G C 45562 single nucleotide variant NM_000551.3(VHL):c.340+5G>C 61758376 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10183876 10183876 G C 45562 single nucleotide variant NM_000551.3(VHL):c.340+5G>C 61758376 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10142192 10142192 G C 45563 single nucleotide variant NM_000551.3(VHL):c.371C>T (p.Thr124Ile) 193922610 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188228 10188228 C T 45563 single nucleotide variant NM_000551.3(VHL):c.371C>T (p.Thr124Ile) 193922610 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146544 10146544 C T 45564 single nucleotide variant NM_000551.3(VHL):c.458T>A (p.Leu153Gln) 193922611 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188315 10188315 T A 45564 single nucleotide variant NM_000551.3(VHL):c.458T>A (p.Leu153Gln) 193922611 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146631 10146631 T A 45565 deletion NM_000551.3(VHL):c.464-117delT 193922612 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191354 10191354 T - 45565 deletion NM_000551.3(VHL):c.464-117delT 193922612 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149670 10149670 T - 45566 single nucleotide variant NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) 193922613 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191531 10191531 A G 45566 single nucleotide variant NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) 193922613 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149847 10149847 A G 45567 single nucleotide variant NM_000551.3(VHL):c.549G>A (p.Ser183=) 193922614 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191556 10191556 G A 45567 single nucleotide variant NM_000551.3(VHL):c.549G>A (p.Ser183=) 193922614 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149872 10149872 G A 45568 single nucleotide variant p.X214Trp -1 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 na -1 -1 na na 50304 single nucleotide variant NM_198156.2(VHL):c.269A>G (p.Asn90Ser) 143985153 MedGen:CN221809 3 10183800 10183800 A G 50304 single nucleotide variant NM_198156.2(VHL):c.269A>G (p.Asn90Ser) 143985153 MedGen:CN221809 3 10142116 10142116 A G 52765 single nucleotide variant NM_000551.3(VHL):c.150C>G (p.Ala50=) 61751580 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10183681 10183681 C G 52765 single nucleotide variant NM_000551.3(VHL):c.150C>G (p.Ala50=) 61751580 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10141997 10141997 C G 52766 single nucleotide variant NM_000551.3(VHL):c.194C>G (p.Ser65Trp) 5030826 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183725 10183725 C G 52766 single nucleotide variant NM_000551.3(VHL):c.194C>G (p.Ser65Trp) 5030826 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142041 10142041 C G 52767 single nucleotide variant NM_000551.3(VHL):c.208G>A (p.Glu70Lys) 5030802 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183739 10183739 G A 52767 single nucleotide variant NM_000551.3(VHL):c.208G>A (p.Glu70Lys) 5030802 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142055 10142055 G A 52768 single nucleotide variant NM_000551.3(VHL):c.319C>G (p.Arg107Gly) 397516440 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183850 10183850 C G 52768 single nucleotide variant NM_000551.3(VHL):c.319C>G (p.Arg107Gly) 397516440 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142166 10142166 C G 52769 single nucleotide variant NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) 397516441 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191474 10191474 A G 52769 single nucleotide variant NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) 397516441 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149790 10149790 A G 52770 deletion NM_000551.3(VHL):c.408delT (p.Phe136Leufs) 397516442 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188265 10188265 T - 52770 deletion NM_000551.3(VHL):c.408delT (p.Phe136Leufs) 397516442 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146581 10146581 T - 52771 single nucleotide variant NM_000551.3(VHL):c.463+2T>G 5030814 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188322 10188322 T G 52771 single nucleotide variant NM_000551.3(VHL):c.463+2T>G 5030814 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146638 10146638 T G 52772 single nucleotide variant NM_000551.3(VHL):c.464-1G>A 5030817 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191470 10191470 G A 52772 single nucleotide variant NM_000551.3(VHL):c.464-1G>A 5030817 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149786 10149786 G A 52773 single nucleotide variant NM_000551.3(VHL):c.485G>T (p.Cys162Phe) 397516444 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191492 10191492 G T 52773 single nucleotide variant NM_000551.3(VHL):c.485G>T (p.Cys162Phe) 397516444 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149808 10149808 G T 52774 single nucleotide variant NM_000551.3(VHL):c.497T>C (p.Val166Ala) 397516445 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191504 10191504 T C 52774 single nucleotide variant NM_000551.3(VHL):c.497T>C (p.Val166Ala) 397516445 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149820 10149820 T C 99233 single nucleotide variant NM_000551.3(VHL):c.233A>G (p.Asn78Ser) 5030804 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10183764 10183764 A G 99233 single nucleotide variant NM_000551.3(VHL):c.233A>G (p.Asn78Ser) 5030804 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10142080 10142080 A G 99234 single nucleotide variant NM_000551.3(VHL):c.256C>G (p.Pro86Ala) 398123481 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183787 10183787 C G 99234 single nucleotide variant NM_000551.3(VHL):c.256C>G (p.Pro86Ala) 398123481 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142103 10142103 C G 99235 single nucleotide variant NM_000551.3(VHL):c.326T>A (p.Ile109Asn) 398123482 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183857 10183857 T A 99235 single nucleotide variant NM_000551.3(VHL):c.326T>A (p.Ile109Asn) 398123482 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142173 10142173 T A 99236 insertion NM_000551.3(VHL):c.501_502insTTGTCCGT (p.Ser168Leufs) 398123483 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191508 10191509 - TTGTCCGT 99236 insertion NM_000551.3(VHL):c.501_502insTTGTCCGT (p.Ser168Leufs) 398123483 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149824 10149825 - TTGTCCGT 99237 single nucleotide variant NM_000551.3(VHL):c.74C>T (p.Pro25Leu) 35460768 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809;MedGen:CN169374 3 10183605 10183605 C T 99237 single nucleotide variant NM_000551.3(VHL):c.74C>T (p.Pro25Leu) 35460768 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809;MedGen:CN169374 3 10141921 10141921 C T 133285 single nucleotide variant NM_000551.3(VHL):c.629G>A (p.Arg210Gln) 138780791 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10191636 10191636 G A 133285 single nucleotide variant NM_000551.3(VHL):c.629G>A (p.Arg210Gln) 138780791 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10149952 10149952 G A 133286 single nucleotide variant NM_000551.3(VHL):c.445G>T (p.Ala149Ser) 587780077 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10188302 10188302 G T 133286 single nucleotide variant NM_000551.3(VHL):c.445G>T (p.Ala149Ser) 587780077 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10146618 10146618 G T 133287 single nucleotide variant NM_000551.3(VHL):c.463+8C>T 5030834 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10188328 10188328 C T 133287 single nucleotide variant NM_000551.3(VHL):c.463+8C>T 5030834 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10146644 10146644 C T 136455 single nucleotide variant NM_000551.3(VHL):c.104C>A (p.Ala35Asp) 587780536 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183635 10183635 C A 136455 single nucleotide variant NM_000551.3(VHL):c.104C>A (p.Ala35Asp) 587780536 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141951 10141951 C A 139144 single nucleotide variant NM_000551.3(VHL):c.119C>T (p.Pro40Leu) 200343185 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10183650 10183650 C T 139144 single nucleotide variant NM_000551.3(VHL):c.119C>T (p.Pro40Leu) 200343185 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10141966 10141966 C T 139145 single nucleotide variant NM_000551.3(VHL):c.3G>A (p.Met1Ile) 578091032 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10183534 10183534 G A 139145 single nucleotide variant NM_000551.3(VHL):c.3G>A (p.Met1Ile) 578091032 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10141850 10141850 G A 139146 single nucleotide variant NM_000551.3(VHL):c.558A>C (p.Glu186Asp) 587778744 MedGen:CN169374 3 10191565 10191565 A C 139146 single nucleotide variant NM_000551.3(VHL):c.558A>C (p.Glu186Asp) 587778744 MedGen:CN169374 3 10149881 10149881 A C 139663 single nucleotide variant NM_000551.3(VHL):c.183C>G (p.Pro61=) 63650860 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10183714 10183714 C G 139663 single nucleotide variant NM_000551.3(VHL):c.183C>G (p.Pro61=) 63650860 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10142030 10142030 C G 139664 single nucleotide variant NM_000551.3(VHL):c.191G>A (p.Arg64His) 104893826 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183722 10183722 G A 139664 single nucleotide variant NM_000551.3(VHL):c.191G>A (p.Arg64His) 104893826 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142038 10142038 G A 139665 single nucleotide variant NM_000551.3(VHL):c.25G>A (p.Asp9Asn) 587780730 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183556 10183556 G A 139665 single nucleotide variant NM_000551.3(VHL):c.25G>A (p.Asp9Asn) 587780730 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141872 10141872 G A 139666 single nucleotide variant NM_000551.3(VHL):c.274G>T (p.Asp92Tyr) 587780731 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183805 10183805 G T 139666 single nucleotide variant NM_000551.3(VHL):c.274G>T (p.Asp92Tyr) 587780731 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142121 10142121 G T 139667 single nucleotide variant NM_000551.3(VHL):c.280G>A (p.Glu94Lys) 5030829 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183811 10183811 G A 139667 single nucleotide variant NM_000551.3(VHL):c.280G>A (p.Glu94Lys) 5030829 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142127 10142127 G A 139668 single nucleotide variant NM_000551.3(VHL):c.416C>G (p.Ser139Cys) 587780732 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10188273 10188273 C G 139668 single nucleotide variant NM_000551.3(VHL):c.416C>G (p.Ser139Cys) 587780732 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10146589 10146589 C G 141607 single nucleotide variant NM_000551.3(VHL):c.-35G>A 587780992 MedGen:CN169374 3 10183497 10183497 G A 141607 single nucleotide variant NM_000551.3(VHL):c.-35G>A 587780992 MedGen:CN169374 3 10141813 10141813 G A 141608 single nucleotide variant NM_000551.3(VHL):c.246C>T (p.Arg82=) 587780993 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10183777 10183777 C T 141608 single nucleotide variant NM_000551.3(VHL):c.246C>T (p.Arg82=) 587780993 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10142093 10142093 C T 150758 single nucleotide variant NM_000551.3(VHL):c.376G>A (p.Asp126Asn) 104893831 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 3 10146549 10146549 G A 150758 single nucleotide variant NM_000551.3(VHL):c.376G>A (p.Asp126Asn) 104893831 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 3 10188233 10188233 G A 171078 single nucleotide variant NM_000551.3(VHL):c.154G>A (p.Glu52Lys) 373068386 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10183685 10183685 G A 171078 single nucleotide variant NM_000551.3(VHL):c.154G>A (p.Glu52Lys) 373068386 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10142001 10142001 G A 171079 single nucleotide variant NM_000551.3(VHL):c.235C>T (p.Arg79Cys) 200885420 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0032461,Orphanet:ORPHA98427;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10183766 10183766 C T 171079 single nucleotide variant NM_000551.3(VHL):c.235C>T (p.Arg79Cys) 200885420 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0032461,Orphanet:ORPHA98427;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10142082 10142082 C T 171080 single nucleotide variant NM_000551.3(VHL):c.538A>G (p.Ile180Val) 377715747 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191545 10191545 A G 171080 single nucleotide variant NM_000551.3(VHL):c.538A>G (p.Ile180Val) 377715747 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149861 10149861 A G 171081 single nucleotide variant NM_000551.3(VHL):c.556G>A (p.Glu186Lys) 367545984 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10191563 10191563 G A 171081 single nucleotide variant NM_000551.3(VHL):c.556G>A (p.Glu186Lys) 367545984 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10149879 10149879 G A 173676 deletion NC_000003.12:g.(?_10149787)_(10149965_?)del -1 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191471 10191649 na na 173676 deletion NC_000003.12:g.(?_10149787)_(10149965_?)del -1 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149787 10149965 na na 173736 single nucleotide variant NM_000551.3(VHL):c.256C>T (p.Pro86Ser) 398123481 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10183787 10183787 C T 173736 single nucleotide variant NM_000551.3(VHL):c.256C>T (p.Pro86Ser) 398123481 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10142103 10142103 C T 173876 deletion NM_000551.3(VHL):c.-75_-55del21 727503744 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183457 10183477 CGCACGCAGCTCCGCCCCGCG - 173876 deletion NM_000551.3(VHL):c.-75_-55del21 727503744 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141773 10141793 na na 176919 duplication NM_000551.3(VHL):c.-61_-51dupCCCCGCGTCCG 727503743 MedGen:CN169374 3 10183471 10183481 CCCCGCGTCCG CCCCGCGTCCGCCCCGCGTCCG 176919 duplication NM_000551.3(VHL):c.-61_-51dupCCCCGCGTCCG 727503743 MedGen:CN169374 3 10141787 10141797 CCCCGCGTCCG CCCCGCGTCCGCCCCGCGTCCG 178148 single nucleotide variant NM_000551.3(VHL):c.351G>T (p.Trp117Cys) 727504215 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188208 10188208 G T 178148 single nucleotide variant NM_000551.3(VHL):c.351G>T (p.Trp117Cys) 727504215 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146524 10146524 G T 180105 duplication NM_000551.3(VHL):c.-54_-35dup20 730882036 MedGen:C0027672,SNOMED CT:C0027672 3 10141794 10141813 na na 180105 duplication NM_000551.3(VHL):c.-54_-35dup20 730882036 MedGen:C0027672,SNOMED CT:C0027672 3 10183478 10183497 na na 180106 single nucleotide variant NM_000551.3(VHL):c.-5A>C 35793832 MedGen:CN169374 3 10141843 10141843 A C 180106 single nucleotide variant NM_000551.3(VHL):c.-5A>C 35793832 MedGen:CN169374 3 10183527 10183527 A C 180107 single nucleotide variant NM_000551.3(VHL):c.5C>T (p.Pro2Leu) 111246617 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10141852 10141852 C T 180107 single nucleotide variant NM_000551.3(VHL):c.5C>T (p.Pro2Leu) 111246617 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10183536 10183536 C T 180108 duplication NM_000551.3(VHL):c.-9_5dupGCGGAGGGAATGCC (p.Ala5Glufs) 730882038 MedGen:C0027672,SNOMED CT:C0027672 3 10141839 10141852 GCGGAGGGAATGCC GCGGAGGGAATGCCGCGGAGGGAATGCC 180108 duplication NM_000551.3(VHL):c.-9_5dupGCGGAGGGAATGCC (p.Ala5Glufs) 730882038 MedGen:C0027672,SNOMED CT:C0027672 3 10183523 10183536 GCGGAGGGAATGCC GCGGAGGGAATGCCGCGGAGGGAATGCC 180109 single nucleotide variant NM_000551.3(VHL):c.154G>T (p.Glu52Ter) 373068386 MedGen:CN221809 3 10142001 10142001 G T 180109 single nucleotide variant NM_000551.3(VHL):c.154G>T (p.Glu52Ter) 373068386 MedGen:CN221809 3 10183685 10183685 G T 180110 deletion NM_000551.3(VHL):c.180delG (p.Val62Cysfs) 730882037 MedGen:C0027672,SNOMED CT:C0027672 3 10142027 10142027 G - 180110 deletion NM_000551.3(VHL):c.180delG (p.Val62Cysfs) 730882037 MedGen:C0027672,SNOMED CT:C0027672 3 10183711 10183711 G - 180111 deletion NM_000551.3(VHL):c.192delC (p.Ser65Argfs) 730882031 MedGen:C0027672,SNOMED CT:C0027672 3 10142039 10142039 C - 180111 deletion NM_000551.3(VHL):c.192delC (p.Ser65Argfs) 730882031 MedGen:C0027672,SNOMED CT:C0027672 3 10183723 10183723 C - 180112 single nucleotide variant NM_000551.3(VHL):c.194C>T (p.Ser65Leu) 5030826 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142041 10142041 C T 180112 single nucleotide variant NM_000551.3(VHL):c.194C>T (p.Ser65Leu) 5030826 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183725 10183725 C T 180113 deletion NM_000551.3(VHL):c.219_220delGG (p.Gln73Hisfs) 730882039 MedGen:C0027672,SNOMED CT:C0027672 3 10142066 10142067 GG - 180113 deletion NM_000551.3(VHL):c.219_220delGG (p.Gln73Hisfs) 730882039 MedGen:C0027672,SNOMED CT:C0027672 3 10183750 10183751 GG - 180114 single nucleotide variant NM_000551.3(VHL):c.227T>C (p.Phe76Ser) 730882033 MedGen:C0027672,SNOMED CT:C0027672 3 10142074 10142074 T C 180114 single nucleotide variant NM_000551.3(VHL):c.227T>C (p.Phe76Ser) 730882033 MedGen:C0027672,SNOMED CT:C0027672 3 10183758 10183758 T C 180115 single nucleotide variant NM_000551.3(VHL):c.257C>T (p.Pro86Leu) 730882034 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142104 10142104 C T 180115 single nucleotide variant NM_000551.3(VHL):c.257C>T (p.Pro86Leu) 730882034 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183788 10183788 C T 180116 single nucleotide variant NM_000551.3(VHL):c.263G>A (p.Trp88Ter) 119103277 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10142110 10142110 G A 180116 single nucleotide variant NM_000551.3(VHL):c.263G>A (p.Trp88Ter) 119103277 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10183794 10183794 G A 180117 single nucleotide variant NM_000551.3(VHL):c.266T>C (p.Leu89Pro) 5030807 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142113 10142113 T C 180117 single nucleotide variant NM_000551.3(VHL):c.266T>C (p.Leu89Pro) 5030807 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183797 10183797 T C 180118 single nucleotide variant NM_000551.3(VHL):c.340+1G>C 730882032 MedGen:C0027672,SNOMED CT:C0027672 3 10142188 10142188 G C 180118 single nucleotide variant NM_000551.3(VHL):c.340+1G>C 730882032 MedGen:C0027672,SNOMED CT:C0027672 3 10183872 10183872 G C 180119 single nucleotide variant NM_000551.3(VHL):c.473T>C (p.Leu158Pro) 121913346 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10149796 10149796 T C 180119 single nucleotide variant NM_000551.3(VHL):c.473T>C (p.Leu158Pro) 121913346 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10191480 10191480 T C 180120 deletion NM_000551.3(VHL):c.477delA (p.Glu160Serfs) 730882020 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149800 10149800 A - 180120 deletion NM_000551.3(VHL):c.477delA (p.Glu160Serfs) 730882020 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191484 10191484 A - 180121 single nucleotide variant NM_000551.3(VHL):c.482G>A (p.Arg161Gln) 730882035 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10149805 10149805 G A 180121 single nucleotide variant NM_000551.3(VHL):c.482G>A (p.Arg161Gln) 730882035 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN221809 3 10191489 10191489 G A 180122 single nucleotide variant NM_000551.3(VHL):c.525C>G (p.Tyr175Ter) 5030835 MedGen:C0027672,SNOMED CT:C0027672 3 10149848 10149848 C G 180122 single nucleotide variant NM_000551.3(VHL):c.525C>G (p.Tyr175Ter) 5030835 MedGen:C0027672,SNOMED CT:C0027672 3 10191532 10191532 C G 180123 single nucleotide variant NM_000551.3(VHL):c.572A>C (p.His191Pro) 370050374 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10149895 10149895 A C 180123 single nucleotide variant NM_000551.3(VHL):c.572A>C (p.His191Pro) 370050374 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10191579 10191579 A C 180124 deletion NM_000551.3(VHL):c.614_615delGC (p.Arg205Hisfs) 730882030 MedGen:C0027672,SNOMED CT:C0027672 3 10149937 10149938 GC - 180124 deletion NM_000551.3(VHL):c.614_615delGC (p.Arg205Hisfs) 730882030 MedGen:C0027672,SNOMED CT:C0027672 3 10191621 10191622 GC - 180125 single nucleotide variant NM_000551.3(VHL):c.631A>C (p.Met211Leu) 200019083 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10149954 10149954 A C 180125 single nucleotide variant NM_000551.3(VHL):c.631A>C (p.Met211Leu) 200019083 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10191638 10191638 A C 182205 single nucleotide variant NM_000551.3(VHL):c.95A>G (p.Glu32Gly) 786203104 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183626 10183626 A G 182205 single nucleotide variant NM_000551.3(VHL):c.95A>G (p.Glu32Gly) 786203104 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141942 10141942 A G 182206 single nucleotide variant NM_000551.3(VHL):c.209A>G (p.Glu70Gly) 786202857 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183740 10183740 A G 182206 single nucleotide variant NM_000551.3(VHL):c.209A>G (p.Glu70Gly) 786202857 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142056 10142056 A G 182207 single nucleotide variant NM_000551.3(VHL):c.238A>G (p.Ser80Gly) 786202787 MedGen:C0027672,SNOMED CT:C0027672 3 10183769 10183769 A G 182207 single nucleotide variant NM_000551.3(VHL):c.238A>G (p.Ser80Gly) 786202787 MedGen:C0027672,SNOMED CT:C0027672 3 10142085 10142085 A G 182208 single nucleotide variant NM_000551.3(VHL):c.275A>T (p.Asp92Val) 749091984 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183806 10183806 A T 182208 single nucleotide variant NM_000551.3(VHL):c.275A>T (p.Asp92Val) 749091984 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142122 10142122 A T 182209 single nucleotide variant NM_000551.3(VHL):c.601C>T (p.Leu201=) 786201557 MedGen:C0027672,SNOMED CT:C0027672 3 10191608 10191608 C T 182209 single nucleotide variant NM_000551.3(VHL):c.601C>T (p.Leu201=) 786201557 MedGen:C0027672,SNOMED CT:C0027672 3 10149924 10149924 C T 186008 single nucleotide variant NM_000551.3(VHL):c.29A>T (p.Glu10Val) 786204065 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183560 10183560 A T 186008 single nucleotide variant NM_000551.3(VHL):c.29A>T (p.Glu10Val) 786204065 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141876 10141876 A T 186009 single nucleotide variant NM_000551.3(VHL):c.167C>T (p.Ala56Val) 752980085 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183698 10183698 C T 186009 single nucleotide variant NM_000551.3(VHL):c.167C>T (p.Ala56Val) 752980085 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142014 10142014 C T 190283 single nucleotide variant NM_000551.3(VHL):c.245G>C (p.Arg82Pro) 794726890 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183776 10183776 G C 190283 single nucleotide variant NM_000551.3(VHL):c.245G>C (p.Arg82Pro) 794726890 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142092 10142092 G C 192254 deletion NM_000551.3(VHL):c.449delA (p.Asn150Ilefs) 794727253 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188306 10188306 A - 192254 deletion NM_000551.3(VHL):c.449delA (p.Asn150Ilefs) 794727253 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146622 10146622 A - 193445 single nucleotide variant NM_000551.3(VHL):c.586A>T (p.Lys196Ter) 281860296 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191593 10191593 A T 193445 single nucleotide variant NM_000551.3(VHL):c.586A>T (p.Lys196Ter) 281860296 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149909 10149909 A T 212277 single nucleotide variant NM_000551.3(VHL):c.14C>T (p.Ala5Val) 755333116 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141861 10141861 C T 212277 single nucleotide variant NM_000551.3(VHL):c.14C>T (p.Ala5Val) 755333116 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183545 10183545 C T 212278 deletion NM_000551.3(VHL):c.123_137delAGAGTCCGGCCCGGA (p.Ser43_Glu47del) 863224839 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10141970 10141984 AGAGTCCGGCCCGGA - 212278 deletion NM_000551.3(VHL):c.123_137delAGAGTCCGGCCCGGA (p.Ser43_Glu47del) 863224839 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10183654 10183668 AGAGTCCGGCCCGGA - 212279 single nucleotide variant NM_000551.3(VHL):c.135G>A (p.Pro45=) 773519476 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141982 10141982 G A 212279 single nucleotide variant NM_000551.3(VHL):c.135G>A (p.Pro45=) 773519476 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183666 10183666 G A 212280 single nucleotide variant NM_000551.3(VHL):c.213C>T (p.Pro71=) 201663073 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142060 10142060 C T 212280 single nucleotide variant NM_000551.3(VHL):c.213C>T (p.Pro71=) 201663073 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183744 10183744 C T 212281 single nucleotide variant NM_000551.3(VHL):c.289C>T (p.Pro97Ser) 863224688 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142136 10142136 C T 212281 single nucleotide variant NM_000551.3(VHL):c.289C>T (p.Pro97Ser) 863224688 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183820 10183820 C T 212282 single nucleotide variant NM_000551.3(VHL):c.327C>T (p.Ile109=) 863224371 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183858 10183858 C T 212282 single nucleotide variant NM_000551.3(VHL):c.327C>T (p.Ile109=) 863224371 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142174 10142174 C T 212283 single nucleotide variant NM_000551.3(VHL):c.375C>T (p.His125=) 863224372 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146548 10146548 C T 212283 single nucleotide variant NM_000551.3(VHL):c.375C>T (p.His125=) 863224372 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188232 10188232 C T 212284 single nucleotide variant NM_000551.3(VHL):c.416C>T (p.Ser139Phe) 587780732 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188273 10188273 C T 212284 single nucleotide variant NM_000551.3(VHL):c.416C>T (p.Ser139Phe) 587780732 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146589 10146589 C T 212285 single nucleotide variant NM_000551.3(VHL):c.435G>C (p.Gln145His) 771727849 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188292 10188292 G C 212285 single nucleotide variant NM_000551.3(VHL):c.435G>C (p.Gln145His) 771727849 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146608 10146608 G C 212286 single nucleotide variant NM_000551.3(VHL):c.552C>T (p.Leu184=) 779157605 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149875 10149875 C T 212286 single nucleotide variant NM_000551.3(VHL):c.552C>T (p.Leu184=) 779157605 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191559 10191559 C T 217068 single nucleotide variant NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) 864321643 MedGen:C0031511,OMIM:171300;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183824 10183824 A C 217068 single nucleotide variant NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) 864321643 MedGen:C0031511,OMIM:171300;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142140 10142140 A C 217069 single nucleotide variant NM_000551.3(VHL):c.479A>T (p.Glu160Val) 864321641 MedGen:C0031511,OMIM:171300 3 10191486 10191486 A T 217069 single nucleotide variant NM_000551.3(VHL):c.479A>T (p.Glu160Val) 864321641 MedGen:C0031511,OMIM:171300 3 10149802 10149802 A T 217070 single nucleotide variant NM_000551.3(VHL):c.509T>C (p.Val170Ala) 864321642 MedGen:C0031511,OMIM:171300 3 10191516 10191516 T C 217070 single nucleotide variant NM_000551.3(VHL):c.509T>C (p.Val170Ala) 864321642 MedGen:C0031511,OMIM:171300 3 10149832 10149832 T C 217071 single nucleotide variant NM_000551.3(VHL):c.548C>G (p.Ser183Trp) 5030823 MedGen:C0031511,OMIM:171300 3 10191555 10191555 C G 217071 single nucleotide variant NM_000551.3(VHL):c.548C>G (p.Ser183Trp) 5030823 MedGen:C0031511,OMIM:171300 3 10149871 10149871 C G 217072 duplication NM_000551.3(VHL):c.588_588dupA (p.Asp197Argfs) 864321640 MedGen:C0031511,OMIM:171300 3 10191595 10191595 A AA 217072 duplication NM_000551.3(VHL):c.588_588dupA (p.Asp197Argfs) 864321640 MedGen:C0031511,OMIM:171300 3 10149911 10149911 A AA 221343 single nucleotide variant NM_000551.3(VHL):c.47A>C (p.Glu16Ala) 864622379 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183578 10183578 A C 221343 single nucleotide variant NM_000551.3(VHL):c.47A>C (p.Glu16Ala) 864622379 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141894 10141894 A C 221344 single nucleotide variant NM_000551.3(VHL):c.114C>T (p.Ser38=) 417164 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141961 10141961 C T 221344 single nucleotide variant NM_000551.3(VHL):c.114C>T (p.Ser38=) 417164 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183645 10183645 C T 221345 single nucleotide variant NM_000551.3(VHL):c.129C>T (p.Ser43=) 864622645 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141976 10141976 C T 221345 single nucleotide variant NM_000551.3(VHL):c.129C>T (p.Ser43=) 864622645 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183660 10183660 C T 221346 single nucleotide variant NM_000551.3(VHL):c.168C>G (p.Ala56=) 864622714 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183699 10183699 C G 221346 single nucleotide variant NM_000551.3(VHL):c.168C>G (p.Ala56=) 864622714 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142015 10142015 C G 221347 deletion NM_000551.3(VHL):c.258delC (p.Val87Tyrfs) 864622545 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183789 10183789 C - 221347 deletion NM_000551.3(VHL):c.258delC (p.Val87Tyrfs) 864622545 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142105 10142105 C - 221348 single nucleotide variant NM_000551.3(VHL):c.307C>G (p.Pro103Ala) 864622267 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183838 10183838 C G 221348 single nucleotide variant NM_000551.3(VHL):c.307C>G (p.Pro103Ala) 864622267 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142154 10142154 C G 221349 single nucleotide variant NM_000551.3(VHL):c.321C>T (p.Arg107=) 864622334 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183852 10183852 C T 221349 single nucleotide variant NM_000551.3(VHL):c.321C>T (p.Arg107=) 864622334 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142168 10142168 C T 221350 single nucleotide variant NM_000551.3(VHL):c.337C>T (p.Arg113Ter) 5030810 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183868 10183868 C T 221350 single nucleotide variant NM_000551.3(VHL):c.337C>T (p.Arg113Ter) 5030810 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142184 10142184 C T 221351 single nucleotide variant NM_000551.3(VHL):c.345C>T (p.His115=) 864622646 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146518 10146518 C T 221351 single nucleotide variant NM_000551.3(VHL):c.345C>T (p.His115=) 864622646 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188202 10188202 C T 221352 single nucleotide variant NM_000551.3(VHL):c.387G>T (p.Leu129=) 778846471 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146560 10146560 G T 221352 single nucleotide variant NM_000551.3(VHL):c.387G>T (p.Leu129=) 778846471 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188244 10188244 G T 221353 single nucleotide variant NM_000551.3(VHL):c.434A>T (p.Gln145Leu) 864622313 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146607 10146607 A T 221353 single nucleotide variant NM_000551.3(VHL):c.434A>T (p.Gln145Leu) 864622313 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188291 10188291 A T 221354 single nucleotide variant NM_000551.3(VHL):c.544A>G (p.Arg182Gly) 778205243 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10191551 10191551 A G 221354 single nucleotide variant NM_000551.3(VHL):c.544A>G (p.Arg182Gly) 778205243 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10149867 10149867 A G 221355 single nucleotide variant NM_000551.3(VHL):c.549G>T (p.Ser183=) 193922614 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191556 10191556 G T 221355 single nucleotide variant NM_000551.3(VHL):c.549G>T (p.Ser183=) 193922614 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149872 10149872 G T 221356 single nucleotide variant NM_000551.3(VHL):c.555C>T (p.Tyr185=) 864622109 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191562 10191562 C T 221356 single nucleotide variant NM_000551.3(VHL):c.555C>T (p.Tyr185=) 864622109 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149878 10149878 C T 221357 single nucleotide variant NM_000551.3(VHL):c.628C>T (p.Arg210Trp) 774380450 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149951 10149951 C T 221357 single nucleotide variant NM_000551.3(VHL):c.628C>T (p.Arg210Trp) 774380450 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191635 10191635 C T 224889 duplication NM_000551.3(VHL):c.163dupG (p.Glu55Glyfs) 869025615 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183694 10183694 G GG 224889 duplication NM_000551.3(VHL):c.163dupG (p.Glu55Glyfs) 869025615 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142010 10142010 G GG 224890 deletion NM_000551.3(VHL):c.189_192delGCGC (p.Ser65Terfs) 869025647 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183720 10183723 GCGC - 224890 deletion NM_000551.3(VHL):c.189_192delGCGC (p.Ser65Terfs) 869025647 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142036 10142039 GCGC - 224891 single nucleotide variant NM_000551.3(VHL):c.193T>G (p.Ser65Ala) 869025616 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183724 10183724 T G 224891 single nucleotide variant NM_000551.3(VHL):c.193T>G (p.Ser65Ala) 869025616 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142040 10142040 T G 224892 single nucleotide variant NM_000551.3(VHL):c.194C>A (p.Ser65Ter) 5030826 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183725 10183725 C A 224892 single nucleotide variant NM_000551.3(VHL):c.194C>A (p.Ser65Ter) 5030826 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142041 10142041 C A 224893 single nucleotide variant NM_000551.3(VHL):c.203C>A (p.Ser68Ter) 869025617 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183734 10183734 C A 224893 single nucleotide variant NM_000551.3(VHL):c.203C>A (p.Ser68Ter) 869025617 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142050 10142050 C A 224894 single nucleotide variant NM_000551.3(VHL):c.214T>C (p.Ser72Pro) 869025618 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183745 10183745 T C 224894 single nucleotide variant NM_000551.3(VHL):c.214T>C (p.Ser72Pro) 869025618 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142061 10142061 T C 224895 single nucleotide variant NM_000551.3(VHL):c.217C>T (p.Gln73Ter) 869025619 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183748 10183748 C T 224895 single nucleotide variant NM_000551.3(VHL):c.217C>T (p.Gln73Ter) 869025619 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142064 10142064 C T 224896 deletion NM_000551.3(VHL):c.221delT (p.Val74Alafs) 869025620 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183752 10183752 T - 224896 deletion NM_000551.3(VHL):c.221delT (p.Val74Alafs) 869025620 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142068 10142068 T - 224897 deletion NM_000551.3(VHL):c.227_229delTCT (p.Phe76del) 5030648 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183758 10183760 TCT - 224897 deletion NM_000551.3(VHL):c.227_229delTCT (p.Phe76del) 5030648 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142074 10142076 TCT - 224898 single nucleotide variant NM_000551.3(VHL):c.232A>T (p.Asn78Tyr) 869025621 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183763 10183763 A T 224898 single nucleotide variant NM_000551.3(VHL):c.232A>T (p.Asn78Tyr) 869025621 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142079 10142079 A T 224899 single nucleotide variant NM_000551.3(VHL):c.233A>C (p.Asn78Thr) 5030804 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183764 10183764 A C 224899 single nucleotide variant NM_000551.3(VHL):c.233A>C (p.Asn78Thr) 5030804 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142080 10142080 A C 224900 single nucleotide variant NM_000551.3(VHL):c.233A>T (p.Asn78Ile) 5030804 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142080 10142080 A T 224900 single nucleotide variant NM_000551.3(VHL):c.233A>T (p.Asn78Ile) 5030804 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183764 10183764 A T 224901 single nucleotide variant NM_000551.3(VHL):c.257C>G (p.Pro86Arg) 730882034 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183788 10183788 C G 224901 single nucleotide variant NM_000551.3(VHL):c.257C>G (p.Pro86Arg) 730882034 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142104 10142104 C G 224902 single nucleotide variant NM_000551.3(VHL):c.264G>T (p.Trp88Cys) 869025622 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183795 10183795 G T 224902 single nucleotide variant NM_000551.3(VHL):c.264G>T (p.Trp88Cys) 869025622 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142111 10142111 G T 224903 single nucleotide variant NM_000551.3(VHL):c.269A>T (p.Asn90Ile) 143985153 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183800 10183800 A T 224903 single nucleotide variant NM_000551.3(VHL):c.269A>T (p.Asn90Ile) 143985153 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142116 10142116 A T 224904 deletion NM_000551.3(VHL):c.269delA (p.Asn90Thrfs) 869025623 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142116 10142116 A - 224904 deletion NM_000551.3(VHL):c.269delA (p.Asn90Thrfs) 869025623 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183800 10183800 A - 224905 single nucleotide variant NM_000551.3(VHL):c.277G>C (p.Gly93Arg) 5030808 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142124 10142124 G C 224905 single nucleotide variant NM_000551.3(VHL):c.277G>C (p.Gly93Arg) 5030808 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183808 10183808 G C 224906 single nucleotide variant NM_000551.3(VHL):c.277G>T (p.Gly93Cys) 5030808 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183808 10183808 G T 224906 single nucleotide variant NM_000551.3(VHL):c.277G>T (p.Gly93Cys) 5030808 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142124 10142124 G T 224907 single nucleotide variant NM_000551.3(VHL):c.293A>G (p.Tyr98Cys) 864321643 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142140 10142140 A G 224907 single nucleotide variant NM_000551.3(VHL):c.293A>G (p.Tyr98Cys) 864321643 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183824 10183824 A G 224908 duplication NM_000551.3(VHL):c.293dupA (p.Tyr98Terfs) 869025624 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183824 10183824 A AA 224908 duplication NM_000551.3(VHL):c.293dupA (p.Tyr98Terfs) 869025624 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142140 10142140 A AA 224909 duplication NM_000551.3(VHL):c.296dupC (p.Thr100Asnfs) 869025625 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142143 10142143 C CC 224909 duplication NM_000551.3(VHL):c.296dupC (p.Thr100Asnfs) 869025625 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183827 10183827 C CC 224910 duplication NM_000551.3(VHL):c.300dupG (p.Leu101Alafs) 869025626 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183831 10183831 G GG 224910 duplication NM_000551.3(VHL):c.300dupG (p.Leu101Alafs) 869025626 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142147 10142147 G GG 224911 deletion NM_000551.3(VHL):c.309delT (p.Gly104Alafs) 869025627 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183840 10183840 T - 224911 deletion NM_000551.3(VHL):c.309delT (p.Gly104Alafs) 869025627 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142156 10142156 T - 224912 duplication NM_000551.3(VHL):c.309dupT (p.Gly104Trpfs) 869025628 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183840 10183840 T TT 224912 duplication NM_000551.3(VHL):c.309dupT (p.Gly104Trpfs) 869025628 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142156 10142156 T TT 224913 single nucleotide variant NM_000551.3(VHL):c.311G>T (p.Gly104Val) 869025630 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142158 10142158 G T 224913 single nucleotide variant NM_000551.3(VHL):c.311G>T (p.Gly104Val) 869025630 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183842 10183842 G T 224914 deletion NM_000551.3(VHL):c.311_340+20del 869025629 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183842 10183891 na na 224914 deletion NM_000551.3(VHL):c.311_340+20del 869025629 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142158 10142207 na na 224915 single nucleotide variant NM_000551.3(VHL):c.320G>A (p.Arg107His) 193922609 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183851 10183851 G A 224915 single nucleotide variant NM_000551.3(VHL):c.320G>A (p.Arg107His) 193922609 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142167 10142167 G A 224916 single nucleotide variant NM_000551.3(VHL):c.332G>A (p.Ser111Asn) 869025631 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183863 10183863 G A 224916 single nucleotide variant NM_000551.3(VHL):c.332G>A (p.Ser111Asn) 869025631 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142179 10142179 G A 224917 single nucleotide variant NM_000551.3(VHL):c.332G>T (p.Ser111Ile) 869025631 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183863 10183863 G T 224917 single nucleotide variant NM_000551.3(VHL):c.332G>T (p.Ser111Ile) 869025631 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142179 10142179 G T 224918 single nucleotide variant NM_000551.3(VHL):c.333C>G (p.Ser111Arg) 765978945 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183864 10183864 C G 224918 single nucleotide variant NM_000551.3(VHL):c.333C>G (p.Ser111Arg) 765978945 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142180 10142180 C G 224919 single nucleotide variant NM_000551.3(VHL):c.335A>G (p.Tyr112Cys) 869025633 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183866 10183866 A G 224919 single nucleotide variant NM_000551.3(VHL):c.335A>G (p.Tyr112Cys) 869025633 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142182 10142182 A G 224920 deletion NM_000551.3(VHL):c.335_340+5del11 869025632 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183866 10183876 ACCGAGGTACG - 224920 deletion NM_000551.3(VHL):c.335_340+5del11 869025632 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142182 10142192 ACCGAGGTACG - 224921 single nucleotide variant NM_000551.3(VHL):c.340G>C (p.Gly114Arg) 869025636 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183871 10183871 G C 224921 single nucleotide variant NM_000551.3(VHL):c.340G>C (p.Gly114Arg) 869025636 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142187 10142187 G C 224922 single nucleotide variant NM_000551.3(VHL):c.340+1G>A 730882032 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183872 10183872 G A 224922 single nucleotide variant NM_000551.3(VHL):c.340+1G>A 730882032 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142188 10142188 G A 224923 deletion NM_000551.3(VHL):c.340+2_340+6del 869025634 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183873 10183877 TACGG - 224923 deletion NM_000551.3(VHL):c.340+2_340+6del 869025634 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142189 10142193 TACGG - 224924 single nucleotide variant NM_000551.3(VHL):c.340+7G>C 869025635 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183878 10183878 G C 224924 single nucleotide variant NM_000551.3(VHL):c.340+7G>C 869025635 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142194 10142194 G C 224925 deletion NM_000551.3(VHL):c.341-21_341-17delAACCT 869025639 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146493 10146497 AACCT - 224925 deletion NM_000551.3(VHL):c.341-21_341-17delAACCT 869025639 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188177 10188181 AACCT - 224926 single nucleotide variant NM_000551.3(VHL):c.341-2A>G 869025637 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188196 10188196 A G 224926 single nucleotide variant NM_000551.3(VHL):c.341-2A>G 869025637 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146512 10146512 A G 224927 deletion NM_000551.3(VHL):c.341delG (p.Gly114Valfs) 869025638 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188198 10188198 G - 224927 deletion NM_000551.3(VHL):c.341delG (p.Gly114Valfs) 869025638 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146514 10146514 G - 224928 deletion NM_000551.3(VHL):c.351delG (p.Trp117Cysfs) 869025640 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188208 10188208 G - 224928 deletion NM_000551.3(VHL):c.351delG (p.Trp117Cysfs) 869025640 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146524 10146524 G - 224929 insertion NM_000551.3(VHL):c.352_353insA (p.Leu118Hisfs) 869025641 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188209 10188210 - A 224929 insertion NM_000551.3(VHL):c.352_353insA (p.Leu118Hisfs) 869025641 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146525 10146526 - A 224930 single nucleotide variant NM_000551.3(VHL):c.358A>G (p.Arg120Gly) 869025642 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146531 10146531 A G 224930 single nucleotide variant NM_000551.3(VHL):c.358A>G (p.Arg120Gly) 869025642 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188215 10188215 A G 224931 single nucleotide variant NM_000551.3(VHL):c.362A>G (p.Asp121Gly) 5030832 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188219 10188219 A G 224931 single nucleotide variant NM_000551.3(VHL):c.362A>G (p.Asp121Gly) 5030832 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146535 10146535 A G 224932 single nucleotide variant NM_000551.3(VHL):c.374A>C (p.His125Pro) 869025643 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146547 10146547 A C 224932 single nucleotide variant NM_000551.3(VHL):c.374A>C (p.His125Pro) 869025643 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188231 10188231 A C 224933 deletion NM_000551.3(VHL):c.374_375delAC (p.His125Argfs) 869025644 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188231 10188232 AC - 224933 deletion NM_000551.3(VHL):c.374_375delAC (p.His125Argfs) 869025644 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146547 10146548 AC - 224934 indel NM_000551.3(VHL):c.381_382delGCinsTT (p.Leu128Phe) 869025645 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188238 10188239 GC TT 224934 indel NM_000551.3(VHL):c.381_382delGCinsTT (p.Leu128Phe) 869025645 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146554 10146555 GC TT 224935 deletion NM_000551.3(VHL):c.402delA (p.Glu134Aspfs) 869025646 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188259 10188259 A - 224935 deletion NM_000551.3(VHL):c.402delA (p.Glu134Aspfs) 869025646 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146575 10146575 A - 224936 single nucleotide variant NM_000551.3(VHL):c.414A>G (p.Pro138=) 869025648 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188271 10188271 A G 224936 single nucleotide variant NM_000551.3(VHL):c.414A>G (p.Pro138=) 869025648 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146587 10146587 A G 224937 deletion NM_000551.3(VHL):c.419_420delTC (p.Leu140Glnfs) 869025649 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146592 10146593 TC - 224937 deletion NM_000551.3(VHL):c.419_420delTC (p.Leu140Glnfs) 869025649 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188276 10188277 TC - 224938 single nucleotide variant NM_000551.3(VHL):c.430G>T (p.Gly144Ter) 869025650 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146603 10146603 G T 224938 single nucleotide variant NM_000551.3(VHL):c.430G>T (p.Gly144Ter) 869025650 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188287 10188287 G T 224939 deletion NM_000551.3(VHL):c.431delG (p.Gly144Aspfs) 869025651 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188288 10188288 G - 224939 deletion NM_000551.3(VHL):c.431delG (p.Gly144Aspfs) 869025651 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146604 10146604 G - 224940 deletion NM_000551.3(VHL):c.435_436delGC (p.Gln145Hisfs) 869025652 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146608 10146609 GC - 224940 deletion NM_000551.3(VHL):c.435_436delGC (p.Gln145Hisfs) 869025652 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188292 10188293 GC - 224941 deletion NM_000551.3(VHL):c.444delT (p.Phe148Leufs) 869025654 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188301 10188301 T - 224941 deletion NM_000551.3(VHL):c.444delT (p.Phe148Leufs) 869025654 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146617 10146617 T - 224942 duplication NM_000551.3(VHL):c.444dupT (p.Ala149Cysfs) 869025653 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188301 10188301 T TT 224942 duplication NM_000551.3(VHL):c.444dupT (p.Ala149Cysfs) 869025653 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146617 10146617 T TT 224943 single nucleotide variant NM_000551.3(VHL):c.445G>A (p.Ala149Thr) 587780077 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188302 10188302 G A 224943 single nucleotide variant NM_000551.3(VHL):c.445G>A (p.Ala149Thr) 587780077 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146618 10146618 G A 224944 single nucleotide variant NM_000551.3(VHL):c.445G>C (p.Ala149Pro) 587780077 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188302 10188302 G C 224944 single nucleotide variant NM_000551.3(VHL):c.445G>C (p.Ala149Pro) 587780077 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146618 10146618 G C 224945 single nucleotide variant NM_000551.3(VHL):c.452T>G (p.Ile151Ser) 869025655 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188309 10188309 T G 224945 single nucleotide variant NM_000551.3(VHL):c.452T>G (p.Ile151Ser) 869025655 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146625 10146625 T G 224946 deletion NM_000551.3(VHL):c.454_463+17del 869025656 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188311 10188337 na na 224946 deletion NM_000551.3(VHL):c.454_463+17del 869025656 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146627 10146653 na na 224947 single nucleotide variant NM_000551.3(VHL):c.463G>A (p.Val155Met) 869025659 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146636 10146636 G A 224947 single nucleotide variant NM_000551.3(VHL):c.463G>A (p.Val155Met) 869025659 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188320 10188320 G A 224948 single nucleotide variant NM_000551.3(VHL):c.463+1G>C 869025657 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188321 10188321 G C 224948 single nucleotide variant NM_000551.3(VHL):c.463+1G>C 869025657 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146637 10146637 G C 224949 deletion NM_000551.3(VHL):c.463+37_463+39del 869025658 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146673 10146675 TGT - 224949 deletion NM_000551.3(VHL):c.463+37_463+39del 869025658 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188357 10188359 TGT - 224950 single nucleotide variant NM_000551.3(VHL):c.464-2A>G 5030816 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191469 10191469 A G 224950 single nucleotide variant NM_000551.3(VHL):c.464-2A>G 5030816 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149785 10149785 A G 224951 single nucleotide variant NM_000551.3(VHL):c.464-1G>C 5030817 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149786 10149786 G C 224951 single nucleotide variant NM_000551.3(VHL):c.464-1G>C 5030817 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191470 10191470 G C 224952 single nucleotide variant NM_000551.3(VHL):c.464-1G>T 5030817 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149786 10149786 G T 224952 single nucleotide variant NM_000551.3(VHL):c.464-1G>T 5030817 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191470 10191470 G T 224953 single nucleotide variant NM_000551.3(VHL):c.470C>T (p.Thr157Ile) 869025660 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149793 10149793 C T 224953 single nucleotide variant NM_000551.3(VHL):c.470C>T (p.Thr157Ile) 869025660 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191477 10191477 C T 224954 duplication NM_000551.3(VHL):c.471dupT (p.Leu158Serfs) 869025661 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191478 10191478 T TT 224954 duplication NM_000551.3(VHL):c.471dupT (p.Leu158Serfs) 869025661 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149794 10149794 T TT 224955 single nucleotide variant NM_000551.3(VHL):c.485G>A (p.Cys162Tyr) 397516444 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149808 10149808 G A 224955 single nucleotide variant NM_000551.3(VHL):c.485G>A (p.Cys162Tyr) 397516444 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191492 10191492 G A 224956 single nucleotide variant NM_000551.3(VHL):c.486C>A (p.Cys162Ter) 869025662 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149809 10149809 C A 224956 single nucleotide variant NM_000551.3(VHL):c.486C>A (p.Cys162Ter) 869025662 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191493 10191493 C A 224957 single nucleotide variant NM_000551.3(VHL):c.486C>G (p.Cys162Trp) 869025662 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191493 10191493 C G 224957 single nucleotide variant NM_000551.3(VHL):c.486C>G (p.Cys162Trp) 869025662 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149809 10149809 C G 224958 single nucleotide variant NM_000551.3(VHL):c.490C>T (p.Gln164Ter) 5030819 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191497 10191497 C T 224958 single nucleotide variant NM_000551.3(VHL):c.490C>T (p.Gln164Ter) 5030819 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149813 10149813 C T 224959 deletion NM_000551.3(VHL):c.496_506delGTCCGGAGCCT (p.Val166Serfs) 869025663 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149819 10149829 GTCCGGAGCCT - 224959 deletion NM_000551.3(VHL):c.496_506delGTCCGGAGCCT (p.Val166Serfs) 869025663 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191503 10191513 GTCCGGAGCCT - 224960 deletion NM_000551.3(VHL):c.540_543delCGTC (p.Val181Glyfs) 869025664 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149863 10149866 CGTC - 224960 deletion NM_000551.3(VHL):c.540_543delCGTC (p.Val181Glyfs) 869025664 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191547 10191550 CGTC - 224961 deletion NM_000551.3(VHL):c.546delG (p.Arg182Serfs) 869025665 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191553 10191553 G - 224961 deletion NM_000551.3(VHL):c.546delG (p.Arg182Serfs) 869025665 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149869 10149869 G - 224962 single nucleotide variant NM_000551.3(VHL):c.554A>G (p.Tyr185Cys) 561874453 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10191561 10191561 A G 224962 single nucleotide variant NM_000551.3(VHL):c.554A>G (p.Tyr185Cys) 561874453 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10149877 10149877 A G 224963 single nucleotide variant NM_000551.3(VHL):c.555C>G (p.Tyr185Ter) 864622109 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149878 10149878 C G 224963 single nucleotide variant NM_000551.3(VHL):c.555C>G (p.Tyr185Ter) 864622109 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191562 10191562 C G 224964 duplication NM_000551.3(VHL):c.587_590dupAAGA (p.Asp197Glufs) 869025666 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149910 10149913 AAGA AAGAAAGA 224964 duplication NM_000551.3(VHL):c.587_590dupAAGA (p.Asp197Glufs) 869025666 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191594 10191597 AAGA AAGAAAGA 224965 single nucleotide variant NM_000551.3(VHL):c.593T>C (p.Leu198Pro) 869025667 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191600 10191600 T C 224965 single nucleotide variant NM_000551.3(VHL):c.593T>C (p.Leu198Pro) 869025667 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149916 10149916 T C 224966 single nucleotide variant NM_000551.3(VHL):c.641G>T (p.Ter214Leu) 869025668 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149964 10149964 G T 224966 single nucleotide variant NM_000551.3(VHL):c.641G>T (p.Ter214Leu) 869025668 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191648 10191648 G T 225772 single nucleotide variant NM_000551.3(VHL):c.341-1173C>T 547519244 MedGen:C0027672,SNOMED CT:C0027672 3 10187025 10187025 C T 225772 single nucleotide variant NM_000551.3(VHL):c.341-1173C>T 547519244 MedGen:C0027672,SNOMED CT:C0027672 3 10145341 10145341 C T 225773 single nucleotide variant NM_000551.3(VHL):c.341-1133C>T 116710496 MedGen:C0027672,SNOMED CT:C0027672 3 10187065 10187065 C T 225773 single nucleotide variant NM_000551.3(VHL):c.341-1133C>T 116710496 MedGen:C0027672,SNOMED CT:C0027672 3 10145381 10145381 C T 225774 single nucleotide variant NM_000551.3(VHL):c.340+20G>A 757151154 MedGen:C0027672,SNOMED CT:C0027672 3 10183891 10183891 G A 225774 single nucleotide variant NM_000551.3(VHL):c.340+20G>A 757151154 MedGen:C0027672,SNOMED CT:C0027672 3 10142207 10142207 G A 225775 single nucleotide variant NM_000551.3(VHL):c.341-1135T>C 572770652 MedGen:C0027672,SNOMED CT:C0027672 3 10187063 10187063 T C 225775 single nucleotide variant NM_000551.3(VHL):c.341-1135T>C 572770652 MedGen:C0027672,SNOMED CT:C0027672 3 10145379 10145379 T C 226819 deletion NM_000551.3(VHL):c.(?_-1)_(*1_?)del -1 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 na -1 -1 na na 232860 single nucleotide variant NM_000551.3(VHL):c.175C>T (p.Pro59Ser) 876659041 MedGen:C0027672,SNOMED CT:C0027672 3 10183706 10183706 C T 232860 single nucleotide variant NM_000551.3(VHL):c.175C>T (p.Pro59Ser) 876659041 MedGen:C0027672,SNOMED CT:C0027672 3 10142022 10142022 C T 232861 single nucleotide variant NM_000551.3(VHL):c.250G>C (p.Val84Leu) 5030827 MedGen:C0027672,SNOMED CT:C0027672 3 10183781 10183781 G C 232861 single nucleotide variant NM_000551.3(VHL):c.250G>C (p.Val84Leu) 5030827 MedGen:C0027672,SNOMED CT:C0027672 3 10142097 10142097 G C 232862 single nucleotide variant NM_000551.3(VHL):c.255G>A (p.Leu85=) 876658508 MedGen:C0027672,SNOMED CT:C0027672 3 10183786 10183786 G A 232862 single nucleotide variant NM_000551.3(VHL):c.255G>A (p.Leu85=) 876658508 MedGen:C0027672,SNOMED CT:C0027672 3 10142102 10142102 G A 232863 single nucleotide variant NM_000551.3(VHL):c.451A>C (p.Ile151Leu) 876659313 MedGen:C0027672,SNOMED CT:C0027672 3 10188308 10188308 A C 232863 single nucleotide variant NM_000551.3(VHL):c.451A>C (p.Ile151Leu) 876659313 MedGen:C0027672,SNOMED CT:C0027672 3 10146624 10146624 A C 232864 single nucleotide variant NM_000551.3(VHL):c.545G>A (p.Arg182Lys) 749774529 MedGen:C0027672,SNOMED CT:C0027672 3 10191552 10191552 G A 232864 single nucleotide variant NM_000551.3(VHL):c.545G>A (p.Arg182Lys) 749774529 MedGen:C0027672,SNOMED CT:C0027672 3 10149868 10149868 G A 239029 deletion NM_000551.3(VHL):c.464-?_*3705+?del -1 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 na -1 -1 na na 239043 single nucleotide variant NM_000551.3(VHL):c.3G>T (p.Met1Ile) 578091032 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10183534 10183534 G T 239043 single nucleotide variant NM_000551.3(VHL):c.3G>T (p.Met1Ile) 578091032 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10141850 10141850 G T 239044 single nucleotide variant NM_000551.3(VHL):c.7C>T (p.Arg3Trp) 878854130 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183538 10183538 C T 239044 single nucleotide variant NM_000551.3(VHL):c.7C>T (p.Arg3Trp) 878854130 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141854 10141854 C T 239045 single nucleotide variant NM_000551.3(VHL):c.71G>A (p.Gly24Asp) 878854129 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183602 10183602 G A 239045 single nucleotide variant NM_000551.3(VHL):c.71G>A (p.Gly24Asp) 878854129 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141918 10141918 G A 239046 single nucleotide variant NM_000551.3(VHL):c.134C>G (p.Pro45Arg) 199583685 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10183665 10183665 C G 239046 single nucleotide variant NM_000551.3(VHL):c.134C>G (p.Pro45Arg) 199583685 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10141981 10141981 C G 239047 single nucleotide variant NM_000551.3(VHL):c.150C>A (p.Ala50=) 61751580 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183681 10183681 C A 239047 single nucleotide variant NM_000551.3(VHL):c.150C>A (p.Ala50=) 61751580 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141997 10141997 C A 239048 single nucleotide variant NM_000551.3(VHL):c.172C>T (p.Arg58Trp) 757781272 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183703 10183703 C T 239048 single nucleotide variant NM_000551.3(VHL):c.172C>T (p.Arg58Trp) 757781272 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142019 10142019 C T 239049 single nucleotide variant NM_000551.3(VHL):c.181C>G (p.Pro61Ala) 113612866 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183712 10183712 C G 239049 single nucleotide variant NM_000551.3(VHL):c.181C>G (p.Pro61Ala) 113612866 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142028 10142028 C G 239050 single nucleotide variant NM_000551.3(VHL):c.258C>G (p.Pro86=) 781063331 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183789 10183789 C G 239050 single nucleotide variant NM_000551.3(VHL):c.258C>G (p.Pro86=) 781063331 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142105 10142105 C G 239051 single nucleotide variant NM_000551.3(VHL):c.324C>T (p.Arg108=) 878854124 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183855 10183855 C T 239051 single nucleotide variant NM_000551.3(VHL):c.324C>T (p.Arg108=) 878854124 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142171 10142171 C T 239052 single nucleotide variant NM_000551.3(VHL):c.408T>G (p.Phe136Leu) 878854125 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188265 10188265 T G 239052 single nucleotide variant NM_000551.3(VHL):c.408T>G (p.Phe136Leu) 878854125 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146581 10146581 T G 239053 single nucleotide variant NM_000551.3(VHL):c.427G>C (p.Asp143His) 372757722 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188284 10188284 G C 239053 single nucleotide variant NM_000551.3(VHL):c.427G>C (p.Asp143His) 372757722 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146600 10146600 G C 239054 single nucleotide variant NM_000551.3(VHL):c.507A>C (p.Leu169=) 878854126 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191514 10191514 A C 239054 single nucleotide variant NM_000551.3(VHL):c.507A>C (p.Leu169=) 878854126 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149830 10149830 A C 239055 single nucleotide variant NM_000551.3(VHL):c.541G>A (p.Val181Ile) 878854127 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191548 10191548 G A 239055 single nucleotide variant NM_000551.3(VHL):c.541G>A (p.Val181Ile) 878854127 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149864 10149864 G A 239056 single nucleotide variant NM_000551.3(VHL):c.585G>C (p.Gln195His) 878854128 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191592 10191592 G C 239056 single nucleotide variant NM_000551.3(VHL):c.585G>C (p.Gln195His) 878854128 Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149908 10149908 G C 244404 indel NM_000551.3(VHL):c.86_87delGCinsTT (p.Gly29Val) 879254115 MedGen:CN169374 3 10183617 10183618 GC TT 244404 indel NM_000551.3(VHL):c.86_87delGCinsTT (p.Gly29Val) 879254115 MedGen:CN169374 3 10141933 10141934 GC TT 244405 single nucleotide variant NM_000551.3(VHL):c.347T>G (p.Leu116Arg) 879254230 MedGen:CN169374 3 10188204 10188204 T G 244405 single nucleotide variant NM_000551.3(VHL):c.347T>G (p.Leu116Arg) 879254230 MedGen:CN169374 3 10146520 10146520 T G 244406 single nucleotide variant NM_000551.3(VHL):c.463+4C>T 879253989 MedGen:CN169374 3 10188324 10188324 C T 244406 single nucleotide variant NM_000551.3(VHL):c.463+4C>T 879253989 MedGen:CN169374 3 10146640 10146640 C T 244407 single nucleotide variant NM_000551.3(VHL):c.578A>G (p.Asn193Ser) 879254225 MedGen:CN169374 3 10149901 10149901 A G 244407 single nucleotide variant NM_000551.3(VHL):c.578A>G (p.Asn193Ser) 879254225 MedGen:CN169374 3 10191585 10191585 A G 250850 single nucleotide variant NM_000551.3(VHL):c.-77C>T 3087462 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10183455 10183455 C T 250850 single nucleotide variant NM_000551.3(VHL):c.-77C>T 3087462 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562;MedGen:CN169374 3 10141771 10141771 C T 264112 duplication NM_000551.3(VHL):c.-12_2dupATCGCGGAGGGAAT 886041253 MedGen:CN169374 3 10183533 10183533 ATCGCGGAGGGAAT ATCGCGGAGGGAATATCGCGGAGGGAAT 264112 duplication NM_000551.3(VHL):c.-12_2dupATCGCGGAGGGAAT 886041253 MedGen:CN169374 3 10141836 10141849 ATCGCGGAGGGAAT ATCGCGGAGGGAATATCGCGGAGGGAAT 264141 duplication NM_000551.3(VHL):c.164_171dupAGGCCGGG (p.Arg60Glyfs) 886041345 MedGen:CN221809 3 10183702 10183702 AGGCCGGG AGGCCGGGAGGCCGGG 264141 duplication NM_000551.3(VHL):c.164_171dupAGGCCGGG (p.Arg60Glyfs) 886041345 MedGen:CN221809 3 10142011 10142018 AGGCCGGG AGGCCGGGAGGCCGGG 272986 single nucleotide variant NM_000551.3(VHL):c.394C>T (p.Gln132Ter) 5030813 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188251 10188251 C T 272986 single nucleotide variant NM_000551.3(VHL):c.394C>T (p.Gln132Ter) 5030813 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146567 10146567 C T 287952 single nucleotide variant NM_000551.3(VHL):c.-125C>A 886057700 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183407 10183407 C A 287952 single nucleotide variant NM_000551.3(VHL):c.-125C>A 886057700 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141723 10141723 C A 287967 single nucleotide variant NM_000551.3(VHL):c.*294G>A 1642742 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150259 10150259 G A 287957 single nucleotide variant NM_000551.3(VHL):c.-64C>T 772944298 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183468 10183468 C T 287957 single nucleotide variant NM_000551.3(VHL):c.-64C>T 772944298 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141784 10141784 C T 287959 single nucleotide variant NM_000551.3(VHL):c.10A>T (p.Arg4Trp) 886057702 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183541 10183541 A T 287959 single nucleotide variant NM_000551.3(VHL):c.10A>T (p.Arg4Trp) 886057702 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141857 10141857 A T 287964 single nucleotide variant NM_000551.3(VHL):c.*280A>G 886057705 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191929 10191929 A G 287964 single nucleotide variant NM_000551.3(VHL):c.*280A>G 886057705 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150245 10150245 A G 287967 single nucleotide variant NM_000551.3(VHL):c.*294G>A 1642742 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191943 10191943 G A 287972 single nucleotide variant NM_000551.3(VHL):c.*349G>T 886057706 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191998 10191998 G T 287972 single nucleotide variant NM_000551.3(VHL):c.*349G>T 886057706 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150314 10150314 G T 287973 single nucleotide variant NM_000551.3(VHL):c.*392G>A 886057708 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150357 10150357 G A 287973 single nucleotide variant NM_000551.3(VHL):c.*392G>A 886057708 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192041 10192041 G A 287974 single nucleotide variant NM_000551.3(VHL):c.*687C>A 886057713 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150652 10150652 C A 287974 single nucleotide variant NM_000551.3(VHL):c.*687C>A 886057713 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192336 10192336 C A 287977 single nucleotide variant NM_000551.3(VHL):c.*724T>G 13090104 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150689 10150689 T G 287977 single nucleotide variant NM_000551.3(VHL):c.*724T>G 13090104 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192373 10192373 T G 287979 single nucleotide variant NM_000551.3(VHL):c.*823G>A 7629500 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150788 10150788 G A 287979 single nucleotide variant NM_000551.3(VHL):c.*823G>A 7629500 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192472 10192472 G A 287980 single nucleotide variant NM_000551.3(VHL):c.*1023G>A 1681669 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150988 10150988 G A 287980 single nucleotide variant NM_000551.3(VHL):c.*1023G>A 1681669 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192672 10192672 G A 287981 single nucleotide variant NM_000551.3(VHL):c.*1249G>A 886057716 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151214 10151214 G A 287981 single nucleotide variant NM_000551.3(VHL):c.*1249G>A 886057716 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192898 10192898 G A 287983 single nucleotide variant NM_000551.3(VHL):c.*1643C>A 886057722 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193292 10193292 C A 287983 single nucleotide variant NM_000551.3(VHL):c.*1643C>A 886057722 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151608 10151608 C A 287984 single nucleotide variant NM_000551.3(VHL):c.*1680T>C 561087293 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193329 10193329 T C 287984 single nucleotide variant NM_000551.3(VHL):c.*1680T>C 561087293 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151645 10151645 T C 287987 single nucleotide variant NM_000551.3(VHL):c.*1860A>G 458106 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193509 10193509 A G 287987 single nucleotide variant NM_000551.3(VHL):c.*1860A>G 458106 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151825 10151825 A G 287990 single nucleotide variant NM_000551.3(VHL):c.*1867A>G 566885734 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193516 10193516 A G 287990 single nucleotide variant NM_000551.3(VHL):c.*1867A>G 566885734 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151832 10151832 A G 287998 single nucleotide variant NM_000551.3(VHL):c.*1887C>A 886057728 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193536 10193536 C A 287998 single nucleotide variant NM_000551.3(VHL):c.*1887C>A 886057728 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151852 10151852 C A 288000 single nucleotide variant NM_000551.3(VHL):c.*2034T>A 1136249 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151999 10151999 T A 288000 single nucleotide variant NM_000551.3(VHL):c.*2034T>A 1136249 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193683 10193683 T A 288007 deletion NM_000551.3(VHL):c.*2094delT 886057732 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152059 10152059 T - 288007 deletion NM_000551.3(VHL):c.*2094delT 886057732 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193743 10193743 T - 288012 deletion NM_000551.3(VHL):c.*2545delT 71052299 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152510 10152510 T - 288012 deletion NM_000551.3(VHL):c.*2545delT 71052299 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194194 10194194 T - 288018 deletion NM_000551.3(VHL):c.*2548_*2549delGA 886057740 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152513 10152514 GA - 288018 deletion NM_000551.3(VHL):c.*2548_*2549delGA 886057740 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194197 10194198 GA - 288020 single nucleotide variant NM_000551.3(VHL):c.*2782C>G 886057747 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194431 10194431 C G 288020 single nucleotide variant NM_000551.3(VHL):c.*2782C>G 886057747 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152747 10152747 C G 288022 single nucleotide variant NM_000551.3(VHL):c.*2812A>C 886057748 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194461 10194461 A C 288022 single nucleotide variant NM_000551.3(VHL):c.*2812A>C 886057748 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152777 10152777 A C 288023 single nucleotide variant NM_000551.3(VHL):c.*2975G>C 801913 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194624 10194624 G C 288023 single nucleotide variant NM_000551.3(VHL):c.*2975G>C 801913 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152940 10152940 G C 288026 single nucleotide variant NM_000551.3(VHL):c.*3128G>A 886057751 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194777 10194777 G A 288026 single nucleotide variant NM_000551.3(VHL):c.*3128G>A 886057751 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153093 10153093 G A 288030 single nucleotide variant NM_000551.3(VHL):c.*3222A>G 886057752 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194871 10194871 A G 288030 single nucleotide variant NM_000551.3(VHL):c.*3222A>G 886057752 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153187 10153187 A G 288032 single nucleotide variant NM_000551.3(VHL):c.*3261T>C 886057754 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194910 10194910 T C 288032 single nucleotide variant NM_000551.3(VHL):c.*3261T>C 886057754 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153226 10153226 T C 288033 duplication NM_000551.3(VHL):c.*3330_*3336dupACAAAAA 886057755 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194979 10194985 ACAAAAA ACAAAAAACAAAAA 288033 duplication NM_000551.3(VHL):c.*3330_*3336dupACAAAAA 886057755 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153295 10153301 ACAAAAA ACAAAAAACAAAAA 288039 single nucleotide variant NM_000551.3(VHL):c.*3352G>A 112130915 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10195001 10195001 G A 288039 single nucleotide variant NM_000551.3(VHL):c.*3352G>A 112130915 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153317 10153317 G A 288046 single nucleotide variant NM_000551.3(VHL):c.*3389G>A 368247150 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153354 10153354 G A 288046 single nucleotide variant NM_000551.3(VHL):c.*3389G>A 368247150 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10195038 10195038 G A 288049 duplication NM_000551.3(VHL):c.*3492_*3493dupAA 886057758 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153457 10153458 AA AAAA 288049 duplication NM_000551.3(VHL):c.*3492_*3493dupAA 886057758 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10195141 10195142 AA AAAA 288660 single nucleotide variant NM_000551.3(VHL):c.-166C>T 886057699 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183366 10183366 C T 288660 single nucleotide variant NM_000551.3(VHL):c.-166C>T 886057699 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141682 10141682 C T 288671 single nucleotide variant NM_000551.3(VHL):c.*303A>T 573000980 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191952 10191952 A T 288671 single nucleotide variant NM_000551.3(VHL):c.*303A>T 573000980 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150268 10150268 A T 288673 single nucleotide variant NM_000551.3(VHL):c.*635G>A 886057712 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150600 10150600 G A 288673 single nucleotide variant NM_000551.3(VHL):c.*635G>A 886057712 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192284 10192284 G A 288676 single nucleotide variant NM_000551.3(VHL):c.*816G>C 142396182 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150781 10150781 G C 288676 single nucleotide variant NM_000551.3(VHL):c.*816G>C 142396182 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192465 10192465 G C 288684 single nucleotide variant NM_000551.3(VHL):c.*989C>T 186084634 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150954 10150954 C T 288684 single nucleotide variant NM_000551.3(VHL):c.*989C>T 186084634 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192638 10192638 C T 288693 single nucleotide variant NM_000551.3(VHL):c.*1172C>T 528852958 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151137 10151137 C T 288693 single nucleotide variant NM_000551.3(VHL):c.*1172C>T 528852958 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192821 10192821 C T 288694 single nucleotide variant NM_000551.3(VHL):c.*1347C>A 886057719 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151312 10151312 C A 288694 single nucleotide variant NM_000551.3(VHL):c.*1347C>A 886057719 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192996 10192996 C A 288695 single nucleotide variant NM_000551.3(VHL):c.*1513A>G 538580892 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193162 10193162 A G 288695 single nucleotide variant NM_000551.3(VHL):c.*1513A>G 538580892 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151478 10151478 A G 288696 single nucleotide variant NM_000551.3(VHL):c.*1617G>T 886057721 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193266 10193266 G T 288696 single nucleotide variant NM_000551.3(VHL):c.*1617G>T 886057721 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151582 10151582 G T 288699 single nucleotide variant NM_000551.3(VHL):c.*1619T>C 145608408 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193268 10193268 T C 288699 single nucleotide variant NM_000551.3(VHL):c.*1619T>C 145608408 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151584 10151584 T C 288701 single nucleotide variant NM_000551.3(VHL):c.*1721C>G 574191130 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193370 10193370 C G 288701 single nucleotide variant NM_000551.3(VHL):c.*1721C>G 574191130 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151686 10151686 C G 288709 single nucleotide variant NM_000551.3(VHL):c.*1741G>T 886057724 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193390 10193390 G T 288709 single nucleotide variant NM_000551.3(VHL):c.*1741G>T 886057724 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151706 10151706 G T 288711 single nucleotide variant NM_000551.3(VHL):c.*1808A>G 886057727 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193457 10193457 A G 288711 single nucleotide variant NM_000551.3(VHL):c.*1808A>G 886057727 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151773 10151773 A G 288717 single nucleotide variant NM_000551.3(VHL):c.*1922G>A 886057729 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193571 10193571 G A 288717 single nucleotide variant NM_000551.3(VHL):c.*1922G>A 886057729 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151887 10151887 G A 288722 deletion NM_000551.3(VHL):c.*1973_*1979delGTAATCC 149248243 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151938 10151944 GTAATCC - 288722 deletion NM_000551.3(VHL):c.*1973_*1979delGTAATCC 149248243 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193622 10193628 GTAATCC - 288742 deletion NM_000551.3(VHL):c.*2090delT 886057730 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152055 10152055 T - 288742 deletion NM_000551.3(VHL):c.*2090delT 886057730 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193739 10193739 T - 288743 single nucleotide variant NM_000551.3(VHL):c.*2562C>T 747406421 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194211 10194211 C T 288743 single nucleotide variant NM_000551.3(VHL):c.*2562C>T 747406421 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152527 10152527 C T 288747 single nucleotide variant NM_000551.3(VHL):c.*2571A>G 886057741 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152536 10152536 A G 288747 single nucleotide variant NM_000551.3(VHL):c.*2571A>G 886057741 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194220 10194220 A G 288751 single nucleotide variant NM_000551.3(VHL):c.*2594C>A 191582744 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194243 10194243 C A 288751 single nucleotide variant NM_000551.3(VHL):c.*2594C>A 191582744 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152559 10152559 C A 288752 single nucleotide variant NM_000551.3(VHL):c.*2600T>A 142728549 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152565 10152565 T A 288752 single nucleotide variant NM_000551.3(VHL):c.*2600T>A 142728549 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194249 10194249 T A 288753 single nucleotide variant NM_000551.3(VHL):c.*2647C>A 886057742 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152612 10152612 C A 288753 single nucleotide variant NM_000551.3(VHL):c.*2647C>A 886057742 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194296 10194296 C A 288761 single nucleotide variant NM_000551.3(VHL):c.*2660T>A 886057743 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152625 10152625 T A 288761 single nucleotide variant NM_000551.3(VHL):c.*2660T>A 886057743 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194309 10194309 T A 288762 single nucleotide variant NM_000551.3(VHL):c.*2738G>A 886057745 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152703 10152703 G A 288762 single nucleotide variant NM_000551.3(VHL):c.*2738G>A 886057745 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194387 10194387 G A 288763 single nucleotide variant NM_000551.3(VHL):c.*3470G>T 886057756 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153435 10153435 G T 288763 single nucleotide variant NM_000551.3(VHL):c.*3470G>T 886057756 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10195119 10195119 G T 288765 duplication NM_000551.3(VHL):c.*3482dupA 886057757 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153447 10153447 A AA 288765 duplication NM_000551.3(VHL):c.*3482dupA 886057757 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10195131 10195131 A AA 288771 single nucleotide variant NM_000551.3(VHL):c.*3616C>T 750516726 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153581 10153581 C T 288771 single nucleotide variant NM_000551.3(VHL):c.*3616C>T 750516726 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10195265 10195265 C T 288779 insertion NM_000551.3(VHL):c.*3644_*3645insG 201632485 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153609 10153610 - G 288779 insertion NM_000551.3(VHL):c.*3644_*3645insG 201632485 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10195293 10195294 - G 291561 single nucleotide variant NM_000551.3(VHL):c.-207C>T 886057698 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183325 10183325 C T 291561 single nucleotide variant NM_000551.3(VHL):c.-207C>T 886057698 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141641 10141641 C T 291569 single nucleotide variant NM_000551.3(VHL):c.-195G>A 779805 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183337 10183337 G A 291569 single nucleotide variant NM_000551.3(VHL):c.-195G>A 779805 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141653 10141653 G A 291573 single nucleotide variant NM_000551.3(VHL):c.-30C>T 886057701 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183502 10183502 C T 291573 single nucleotide variant NM_000551.3(VHL):c.-30C>T 886057701 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141818 10141818 C T 291574 deletion NM_000551.3(VHL):c.*266_*269delTCAG 886057704 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191915 10191918 TCAG - 291574 deletion NM_000551.3(VHL):c.*266_*269delTCAG 886057704 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150231 10150234 TCAG - 291576 deletion NM_000551.3(VHL):c.*385delT 886057707 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192034 10192034 T - 291576 deletion NM_000551.3(VHL):c.*385delT 886057707 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150350 10150350 T - 291582 single nucleotide variant NM_000551.3(VHL):c.*448G>T 886057709 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150413 10150413 G T 291582 single nucleotide variant NM_000551.3(VHL):c.*448G>T 886057709 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192097 10192097 G T 291584 single nucleotide variant NM_000551.3(VHL):c.*820A>G 182781943 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150785 10150785 A G 291584 single nucleotide variant NM_000551.3(VHL):c.*820A>G 182781943 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192469 10192469 A G 291585 single nucleotide variant NM_000551.3(VHL):c.*1060C>T 1681668 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151025 10151025 C T 291585 single nucleotide variant NM_000551.3(VHL):c.*1060C>T 1681668 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192709 10192709 C T 291586 single nucleotide variant NM_000551.3(VHL):c.*1281A>G 886057717 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192930 10192930 A G 291586 single nucleotide variant NM_000551.3(VHL):c.*1281A>G 886057717 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151246 10151246 A G 291590 single nucleotide variant NM_000551.3(VHL):c.*1328C>A 78562649 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151293 10151293 C A 291590 single nucleotide variant NM_000551.3(VHL):c.*1328C>A 78562649 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192977 10192977 C A 291593 single nucleotide variant NM_000551.3(VHL):c.*1330A>G 886057718 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151295 10151295 A G 291593 single nucleotide variant NM_000551.3(VHL):c.*1330A>G 886057718 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192979 10192979 A G 291595 single nucleotide variant NM_000551.3(VHL):c.*1419A>G 141916278 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151384 10151384 A G 291595 single nucleotide variant NM_000551.3(VHL):c.*1419A>G 141916278 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193068 10193068 A G 291599 single nucleotide variant NM_000551.3(VHL):c.*1691A>G 539201437 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193340 10193340 A G 291599 single nucleotide variant NM_000551.3(VHL):c.*1691A>G 539201437 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151656 10151656 A G 291601 single nucleotide variant NM_000551.3(VHL):c.*1782T>G 886057726 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193431 10193431 T G 291601 single nucleotide variant NM_000551.3(VHL):c.*1782T>G 886057726 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151747 10151747 T G 291602 single nucleotide variant NM_000551.3(VHL):c.*2034T>G 1136249 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151999 10151999 T G 291602 single nucleotide variant NM_000551.3(VHL):c.*2034T>G 1136249 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193683 10193683 T G 291618 deletion NM_000551.3(VHL):c.*2117delA 796510465 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152082 10152082 A - 291618 deletion NM_000551.3(VHL):c.*2117delA 796510465 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193766 10193766 A - 291619 deletion NM_000551.3(VHL):c.*2118delT 886057733 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152083 10152083 T - 291619 deletion NM_000551.3(VHL):c.*2118delT 886057733 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193767 10193767 T - 291628 single nucleotide variant NM_000551.3(VHL):c.*2224A>G 886057734 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152189 10152189 A G 291628 single nucleotide variant NM_000551.3(VHL):c.*2224A>G 886057734 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193873 10193873 A G 291630 single nucleotide variant NM_000551.3(VHL):c.*2432T>G 886057736 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152397 10152397 T G 291630 single nucleotide variant NM_000551.3(VHL):c.*2432T>G 886057736 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194081 10194081 T G 291632 single nucleotide variant NM_000551.3(VHL):c.*2548G>A 187719061 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152513 10152513 G A 291632 single nucleotide variant NM_000551.3(VHL):c.*2548G>A 187719061 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194197 10194197 G A 291636 single nucleotide variant NM_000551.3(VHL):c.*2670G>C 886057744 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152635 10152635 G C 291636 single nucleotide variant NM_000551.3(VHL):c.*2670G>C 886057744 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194319 10194319 G C 291639 single nucleotide variant NM_000551.3(VHL):c.*2715C>T 578053681 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194364 10194364 C T 291639 single nucleotide variant NM_000551.3(VHL):c.*2715C>T 578053681 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152680 10152680 C T 291642 single nucleotide variant NM_000551.3(VHL):c.*2716G>A 538719970 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194365 10194365 G A 291642 single nucleotide variant NM_000551.3(VHL):c.*2716G>A 538719970 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152681 10152681 G A 291643 single nucleotide variant NM_000551.3(VHL):c.*2854G>T 546347626 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194503 10194503 G T 291643 single nucleotide variant NM_000551.3(VHL):c.*2854G>T 546347626 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152819 10152819 G T 291644 single nucleotide variant NM_000551.3(VHL):c.*2988G>A 886057750 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194637 10194637 G A 291644 single nucleotide variant NM_000551.3(VHL):c.*2988G>A 886057750 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152953 10152953 G A 291654 single nucleotide variant NM_000551.3(VHL):c.*3021T>C 138933035 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194670 10194670 T C 291654 single nucleotide variant NM_000551.3(VHL):c.*3021T>C 138933035 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152986 10152986 T C 291655 single nucleotide variant NM_000551.3(VHL):c.*3205C>T 561918442 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194854 10194854 C T 291655 single nucleotide variant NM_000551.3(VHL):c.*3205C>T 561918442 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153170 10153170 C T 291656 single nucleotide variant NM_000551.3(VHL):c.*3395C>T 184144719 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153360 10153360 C T 291656 single nucleotide variant NM_000551.3(VHL):c.*3395C>T 184144719 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10195044 10195044 C T 291662 single nucleotide variant NM_000551.3(VHL):c.*3603C>T 145137834 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153568 10153568 C T 291662 single nucleotide variant NM_000551.3(VHL):c.*3603C>T 145137834 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10195252 10195252 C T 291666 single nucleotide variant NM_000551.3(VHL):c.*3625T>A 552161251 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153590 10153590 T A 291666 single nucleotide variant NM_000551.3(VHL):c.*3625T>A 552161251 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10195274 10195274 T A 291707 single nucleotide variant NM_000551.3(VHL):c.11G>T (p.Arg4Met) 886057703 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183542 10183542 G T 291707 single nucleotide variant NM_000551.3(VHL):c.11G>T (p.Arg4Met) 886057703 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141858 10141858 G T 291708 single nucleotide variant NM_000551.3(VHL):c.639T>C (p.Asp213=) 775624944 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191646 10191646 T C 291708 single nucleotide variant NM_000551.3(VHL):c.639T>C (p.Asp213=) 775624944 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149962 10149962 T C 291709 deletion NM_000551.3(VHL):c.*523delG 886057710 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150488 10150488 G - 291709 deletion NM_000551.3(VHL):c.*523delG 886057710 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192172 10192172 G - 291711 single nucleotide variant NM_000551.3(VHL):c.*574T>C 143062510 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150539 10150539 T C 291711 single nucleotide variant NM_000551.3(VHL):c.*574T>C 143062510 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192223 10192223 T C 291714 single nucleotide variant NM_000551.3(VHL):c.*597G>A 886057711 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150562 10150562 G A 291714 single nucleotide variant NM_000551.3(VHL):c.*597G>A 886057711 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192246 10192246 G A 291715 duplication NM_000551.3(VHL):c.*938_*942dupGTTTT 886057714 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10150903 10150907 GTTTT GTTTTGTTTT 291715 duplication NM_000551.3(VHL):c.*938_*942dupGTTTT 886057714 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192587 10192591 GTTTT GTTTTGTTTT 291716 single nucleotide variant NM_000551.3(VHL):c.*1072C>T 886057715 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151037 10151037 C T 291716 single nucleotide variant NM_000551.3(VHL):c.*1072C>T 886057715 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192721 10192721 C T 291727 single nucleotide variant NM_000551.3(VHL):c.*1207G>A 139557214 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151172 10151172 G A 291727 single nucleotide variant NM_000551.3(VHL):c.*1207G>A 139557214 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10192856 10192856 G A 291728 single nucleotide variant NM_000551.3(VHL):c.*1371A>G 771759826 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151336 10151336 A G 291728 single nucleotide variant NM_000551.3(VHL):c.*1371A>G 771759826 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193020 10193020 A G 291731 single nucleotide variant NM_000551.3(VHL):c.*1452A>T 552760935 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151417 10151417 A T 291731 single nucleotide variant NM_000551.3(VHL):c.*1452A>T 552760935 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193101 10193101 A T 291732 single nucleotide variant NM_000551.3(VHL):c.*1465C>A 183067022 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151430 10151430 C A 291732 single nucleotide variant NM_000551.3(VHL):c.*1465C>A 183067022 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193114 10193114 C A 291745 single nucleotide variant NM_000551.3(VHL):c.*1481G>A 886057720 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193130 10193130 G A 291745 single nucleotide variant NM_000551.3(VHL):c.*1481G>A 886057720 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151446 10151446 G A 291747 single nucleotide variant NM_000551.3(VHL):c.*1677C>T 886057723 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193326 10193326 C T 291747 single nucleotide variant NM_000551.3(VHL):c.*1677C>T 886057723 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151642 10151642 C T 291750 single nucleotide variant NM_000551.3(VHL):c.*1780C>G 886057725 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193429 10193429 C G 291750 single nucleotide variant NM_000551.3(VHL):c.*1780C>G 886057725 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151745 10151745 C G 291751 single nucleotide variant NM_000551.3(VHL):c.*1960G>A 9822696 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193609 10193609 G A 291751 single nucleotide variant NM_000551.3(VHL):c.*1960G>A 9822696 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151925 10151925 G A 291752 single nucleotide variant NM_000551.3(VHL):c.*1990G>A 113678809 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10151955 10151955 G A 291752 single nucleotide variant NM_000551.3(VHL):c.*1990G>A 113678809 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193639 10193639 G A 291755 deletion NM_000551.3(VHL):c.*2093delC 886057731 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152058 10152058 C - 291755 deletion NM_000551.3(VHL):c.*2093delC 886057731 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193742 10193742 C - 291759 single nucleotide variant NM_000551.3(VHL):c.*2140C>T 140614750 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152105 10152105 C T 291759 single nucleotide variant NM_000551.3(VHL):c.*2140C>T 140614750 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10193789 10193789 C T 291760 duplication NM_000551.3(VHL):c.*2419dupA 886057735 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152384 10152384 A AA 291760 duplication NM_000551.3(VHL):c.*2419dupA 886057735 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194068 10194068 A AA 291761 single nucleotide variant NM_000551.3(VHL):c.*2468C>T 138237298 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152433 10152433 C T 291761 single nucleotide variant NM_000551.3(VHL):c.*2468C>T 138237298 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194117 10194117 C T 291770 deletion NM_000551.3(VHL):c.*2540_*2545delTTTTTT 886057737 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152505 10152510 TTTTTT - 291770 deletion NM_000551.3(VHL):c.*2540_*2545delTTTTTT 886057737 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194189 10194194 TTTTTT - 291771 deletion NM_000551.3(VHL):c.*2541_*2546delTTTTTG 886057738 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152506 10152511 TTTTTG - 291771 deletion NM_000551.3(VHL):c.*2541_*2546delTTTTTG 886057738 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194190 10194195 TTTTTG - 291772 deletion NM_000551.3(VHL):c.*2543_*2546delTTTG 886057739 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152508 10152511 TTTG - 291772 deletion NM_000551.3(VHL):c.*2543_*2546delTTTG 886057739 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194192 10194195 TTTG - 291777 single nucleotide variant NM_000551.3(VHL):c.*2762T>C 886057746 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194411 10194411 T C 291777 single nucleotide variant NM_000551.3(VHL):c.*2762T>C 886057746 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152727 10152727 T C 291778 single nucleotide variant NM_000551.3(VHL):c.*2960C>A 886057749 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10152925 10152925 C A 291778 single nucleotide variant NM_000551.3(VHL):c.*2960C>A 886057749 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194609 10194609 C A 291781 single nucleotide variant NM_000551.3(VHL):c.*3249C>T 886057753 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10194898 10194898 C T 291781 single nucleotide variant NM_000551.3(VHL):c.*3249C>T 886057753 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153214 10153214 C T 291782 single nucleotide variant NM_000551.3(VHL):c.*3506G>T 886057759 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153471 10153471 G T 291782 single nucleotide variant NM_000551.3(VHL):c.*3506G>T 886057759 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10195155 10195155 G T 291783 single nucleotide variant NM_000551.3(VHL):c.*3523T>G 17610448 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153488 10153488 T G 291783 single nucleotide variant NM_000551.3(VHL):c.*3523T>G 17610448 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10195172 10195172 T G 291786 single nucleotide variant NM_000551.3(VHL):c.*3545C>A 886057760 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153510 10153510 C A 291786 single nucleotide variant NM_000551.3(VHL):c.*3545C>A 886057760 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10195194 10195194 C A 291787 insertion NM_000551.3(VHL):c.*3645_*3646insGT 886057761 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10153610 10153611 - GT 291787 insertion NM_000551.3(VHL):c.*3645_*3646insGT 886057761 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10195294 10195295 - GT 358729 duplication NM_000551.3(VHL):c.83_100dup18 (p.Ser33_Gly34insAspGlyGlyGluGluSer) 1057517592 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141930 10141947 na na 358729 duplication NM_000551.3(VHL):c.83_100dup18 (p.Ser33_Gly34insAspGlyGlyGluGluSer) 1057517592 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183614 10183631 na na 358730 single nucleotide variant NM_000551.3(VHL):c.167C>G (p.Ala56Gly) 752980085 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183698 10183698 C G 358730 single nucleotide variant NM_000551.3(VHL):c.167C>G (p.Ala56Gly) 752980085 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10142014 10142014 C G 358731 single nucleotide variant NM_000551.3(VHL):c.341-6C>T 191201783 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188192 10188192 C T 358731 single nucleotide variant NM_000551.3(VHL):c.341-6C>T 191201783 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146508 10146508 C T 358732 single nucleotide variant NM_000551.3(VHL):c.439A>G (p.Ile147Val) 1057517560 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146612 10146612 A G 358732 single nucleotide variant NM_000551.3(VHL):c.439A>G (p.Ile147Val) 1057517560 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188296 10188296 A G 358733 single nucleotide variant NM_000551.3(VHL):c.449A>G (p.Asn150Ser) 760184234 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10146622 10146622 A G 358733 single nucleotide variant NM_000551.3(VHL):c.449A>G (p.Asn150Ser) 760184234 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10188306 10188306 A G 358734 single nucleotide variant NM_000551.3(VHL):c.*7C>G 778005138 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10149972 10149972 C G 358734 single nucleotide variant NM_000551.3(VHL):c.*7C>G 778005138 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10191656 10191656 C G 360844 deletion NC_000003.12:g.10133799_10141895del8097 -1 Human Phenotype Ontology:HP:0001737,MedGen:C1860394;Human Phenotype Ontology:HP:0000107,MedGen:C2173677 3 10133799 10141895 na na 360844 deletion NC_000003.12:g.10133799_10141895del8097 -1 Human Phenotype Ontology:HP:0001737,MedGen:C1860394;Human Phenotype Ontology:HP:0000107,MedGen:C2173677 3 10175483 10183579 na na 361857 single nucleotide variant NM_000551.3(VHL):c.28G>A (p.Glu10Lys) -1 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10141875 10141875 G A 361857 single nucleotide variant NM_000551.3(VHL):c.28G>A (p.Glu10Lys) -1 MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:C0019562 3 10183559 10183559 G A

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 3 10182562 rs779803 G A rs779803 1.10E-05 Urinary metabolites HPOID:0000079 DOID:557 G nearGene-5 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000134086.7 VHL 608537