Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 22812 single nucleotide variant NM_000286.2(PEX12):c.691A>T (p.Lys231Ter) 104894616 MedGen:C3553929,OMIM:614859 17 35576171 35576171 T A 22809 insertion PEX12, 4-BP INS, 733GCCT -1 MedGen:C3553929,OMIM:614859 na -1 -1 na na 22810 insertion PEX12, 1-BP INS, 744T -1 MedGen:C3553929,OMIM:614859 na -1 -1 na na 22811 deletion PEX12, 4-BP DEL, 684TAGT -1 MedGen:C3553929,OMIM:614859 na -1 -1 na na 22812 single nucleotide variant NM_000286.2(PEX12):c.691A>T (p.Lys231Ter) 104894616 MedGen:C3553929,OMIM:614859 17 33903190 33903190 T A 22813 single nucleotide variant NM_000286.2(PEX12):c.538C>T (p.Arg180Ter) 61752103 MedGen:C3551381;MedGen:C3553929,OMIM:614859 17 33904199 33904199 G A 22813 single nucleotide variant NM_000286.2(PEX12):c.538C>T (p.Arg180Ter) 61752103 MedGen:C3551381;MedGen:C3553929,OMIM:614859 17 35577180 35577180 G A 22814 single nucleotide variant NM_000286.2(PEX12):c.959C>T (p.Ser320Phe) 28936697 MedGen:C3551381;MedGen:CN221809 17 33902922 33902922 G A 22814 single nucleotide variant NM_000286.2(PEX12):c.959C>T (p.Ser320Phe) 28936697 MedGen:C3551381;MedGen:CN221809 17 35575903 35575903 G A 22815 deletion PEX12, 2-BP DEL, 26CA -1 MedGen:C3551381 na -1 -1 na na 22816 single nucleotide variant PEX12, IVS1DS, G-T, +1 -1 MedGen:C3551381 na -1 -1 na na 22817 single nucleotide variant NM_000286.2(PEX12):c.273A>T (p.Arg91Ser) 28936698 MedGen:C3551381 17 33904464 33904464 T A 22817 single nucleotide variant NM_000286.2(PEX12):c.273A>T (p.Arg91Ser) 28936698 MedGen:C3551381 17 35577445 35577445 T A 22818 single nucleotide variant NM_000286.2(PEX12):c.949C>T (p.Leu317Phe) 61752112 MedGen:C3551381 17 33902932 33902932 G A 22818 single nucleotide variant NM_000286.2(PEX12):c.949C>T (p.Leu317Phe) 61752112 MedGen:C3551381 17 35575913 35575913 G A 98680 single nucleotide variant NM_000286.2(PEX12):c.102A>T (p.Arg34Ser) 147530802 MedGen:CN169374 17 33904939 33904939 T A 98680 single nucleotide variant NM_000286.2(PEX12):c.102A>T (p.Arg34Ser) 147530802 MedGen:CN169374 17 35577920 35577920 T A 98681 single nucleotide variant NM_000286.2(PEX12):c.451C>T (p.Arg151Cys) 138731505 MedGen:CN169374 17 33904286 33904286 G A 98681 single nucleotide variant NM_000286.2(PEX12):c.451C>T (p.Arg151Cys) 138731505 MedGen:CN169374 17 35577267 35577267 G A 98682 deletion NM_000286.2(PEX12):c.681-3_681-2delCA 138568975 MedGen:CN169374 17 33903202 33903203 TG - 98682 deletion NM_000286.2(PEX12):c.681-3_681-2delCA 138568975 MedGen:CN169374 17 35576183 35576184 TG - 98683 deletion NM_000286.2(PEX12):c.888_889delCT (p.Leu297Thrfs) 398123301 MedGen:C0282527,OMIM:266510,Orphanet:ORPHA772,SNOMED CT:C0282527;MedGen:C3553929,OMIM:614859;MedGen:CN221809 17 33902992 33902993 AG - 98683 deletion NM_000286.2(PEX12):c.888_889delCT (p.Leu297Thrfs) 398123301 MedGen:C0282527,OMIM:266510,Orphanet:ORPHA772,SNOMED CT:C0282527;MedGen:C3553929,OMIM:614859;MedGen:CN221809 17 35575973 35575974 AG - 98684 deletion NM_000286.2(PEX12):c.894delC (p.Met300Terfs) 398123302 MedGen:CN221809 17 33902987 33902987 G - 98684 deletion NM_000286.2(PEX12):c.894delC (p.Met300Terfs) 398123302 MedGen:CN221809 17 35575968 35575968 G - 177289 single nucleotide variant NM_000286.2(PEX12):c.59T>C (p.Ile20Thr) 727504079 MedGen:CN169374 17 33904982 33904982 A G 177289 single nucleotide variant NM_000286.2(PEX12):c.59T>C (p.Ile20Thr) 727504079 MedGen:CN169374 17 35577963 35577963 A G 177932 single nucleotide variant NM_000286.2(PEX12):c.117T>G (p.His39Gln) 727504078 MedGen:CN169374 17 33904924 33904924 A C 177932 single nucleotide variant NM_000286.2(PEX12):c.117T>G (p.His39Gln) 727504078 MedGen:CN169374 17 35577905 35577905 A C 177933 single nucleotide variant NM_000286.2(PEX12):c.-26G>A 727504080 MedGen:CN169374 17 33905066 33905066 C T 177933 single nucleotide variant NM_000286.2(PEX12):c.-26G>A 727504080 MedGen:CN169374 17 35578047 35578047 C T 188879 single nucleotide variant NM_000286.2(PEX12):c.616C>T (p.Gln206Ter) 786205502 MedGen:CN221809 17 33904121 33904121 G A 188879 single nucleotide variant NM_000286.2(PEX12):c.616C>T (p.Gln206Ter) 786205502 MedGen:CN221809 17 35577102 35577102 G A 188880 single nucleotide variant NM_000286.2(PEX12):c.334C>T (p.Gln112Ter) 776731688 MedGen:CN221809 17 33904403 33904403 G A 188880 single nucleotide variant NM_000286.2(PEX12):c.334C>T (p.Gln112Ter) 776731688 MedGen:CN221809 17 35577384 35577384 G A 193407 single nucleotide variant NM_000286.2(PEX12):c.931C>T (p.Arg311Trp) 373666248 MedGen:CN169374 17 33902950 33902950 G A 193407 single nucleotide variant NM_000286.2(PEX12):c.931C>T (p.Arg311Trp) 373666248 MedGen:CN169374 17 35575931 35575931 G A 264766 duplication NM_000286.2(PEX12):c.51_54dupGCCA (p.Ser19Alafs) 886041458 MedGen:CN221809 17 33904987 33904987 TGGC TGGCTGGC 264766 duplication NM_000286.2(PEX12):c.51_54dupGCCA (p.Ser19Alafs) 886041458 MedGen:CN221809 17 35577968 35577971 TGGC TGGCTGGC 267626 single nucleotide variant NM_000286.2(PEX12):c.349A>G (p.Ile117Val) 767207001 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 17 33904388 33904388 T C 267626 single nucleotide variant NM_000286.2(PEX12):c.349A>G (p.Ile117Val) 767207001 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 17 35577369 35577369 T C 269779 single nucleotide variant NM_000286.2(PEX12):c.452G>A (p.Arg151His) 150186509 MedGen:CN169374 17 33904285 33904285 C T 269779 single nucleotide variant NM_000286.2(PEX12):c.452G>A (p.Arg151His) 150186509 MedGen:CN169374 17 35577266 35577266 C T 271584 single nucleotide variant NM_000286.2(PEX12):c.722G>T (p.Gly241Val) 139417458 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 17 33903159 33903159 C A 271584 single nucleotide variant NM_000286.2(PEX12):c.722G>T (p.Gly241Val) 139417458 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 17 35576140 35576140 C A 273787 single nucleotide variant NM_000286.2(PEX12):c.763G>A (p.Val255Ile) 746089337 MedGen:CN169374 17 33903118 33903118 C T 273787 single nucleotide variant NM_000286.2(PEX12):c.763G>A (p.Val255Ile) 746089337 MedGen:CN169374 17 35576099 35576099 C T 328126 single nucleotide variant NM_000286.2(PEX12):c.*474A>G 886052828 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575308 35575308 T C 328126 single nucleotide variant NM_000286.2(PEX12):c.*474A>G 886052828 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902327 33902327 T C 328138 single nucleotide variant NM_000286.2(PEX12):c.*433T>C 886052829 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575349 35575349 A G 328138 single nucleotide variant NM_000286.2(PEX12):c.*433T>C 886052829 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902368 33902368 A G 328140 single nucleotide variant NM_000286.2(PEX12):c.*380G>C 762716335 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575402 35575402 C G 328140 single nucleotide variant NM_000286.2(PEX12):c.*380G>C 762716335 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902421 33902421 C G 328141 single nucleotide variant NM_000286.2(PEX12):c.84T>C (p.Ser28=) 200641558 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35577938 35577938 A G 328141 single nucleotide variant NM_000286.2(PEX12):c.84T>C (p.Ser28=) 200641558 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33904957 33904957 A G 328143 single nucleotide variant NM_000286.2(PEX12):c.-340G>T 886052833 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35578361 35578361 C A 328143 single nucleotide variant NM_000286.2(PEX12):c.-340G>T 886052833 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33905380 33905380 C A 337985 single nucleotide variant NM_000286.2(PEX12):c.*922T>C 886052823 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33901879 33901879 A G 337985 single nucleotide variant NM_000286.2(PEX12):c.*922T>C 886052823 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35574860 35574860 A G 337986 single nucleotide variant NM_000286.2(PEX12):c.*778G>A 886052824 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575004 35575004 C T 337986 single nucleotide variant NM_000286.2(PEX12):c.*778G>A 886052824 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902023 33902023 C T 337990 single nucleotide variant NM_000286.2(PEX12):c.*532A>G 886052826 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575250 35575250 T C 337990 single nucleotide variant NM_000286.2(PEX12):c.*532A>G 886052826 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902269 33902269 T C 337995 single nucleotide variant NM_000286.2(PEX12):c.*517A>G 1046321 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575265 35575265 T C 337995 single nucleotide variant NM_000286.2(PEX12):c.*517A>G 1046321 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902284 33902284 T C 337999 single nucleotide variant NM_000286.2(PEX12):c.*297T>C 113891712 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575485 35575485 A G 337999 single nucleotide variant NM_000286.2(PEX12):c.*297T>C 113891712 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902504 33902504 A G 338002 single nucleotide variant NM_000286.2(PEX12):c.*166C>A 1037590 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575616 35575616 G T 338002 single nucleotide variant NM_000286.2(PEX12):c.*166C>A 1037590 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902635 33902635 G T 338007 single nucleotide variant NM_000286.2(PEX12):c.1002G>A (p.Arg334=) 200283718 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575860 35575860 C T 338007 single nucleotide variant NM_000286.2(PEX12):c.1002G>A (p.Arg334=) 200283718 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902879 33902879 C T 338010 single nucleotide variant NM_000286.2(PEX12):c.41C>A (p.Ala14Asp) 193253559 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35577981 35577981 G T 338010 single nucleotide variant NM_000286.2(PEX12):c.41C>A (p.Ala14Asp) 193253559 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33905000 33905000 G T 338014 single nucleotide variant NM_000286.2(PEX12):c.-145C>T 886052832 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35578166 35578166 G A 338014 single nucleotide variant NM_000286.2(PEX12):c.-145C>T 886052832 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33905185 33905185 G A 338015 single nucleotide variant NM_000286.2(PEX12):c.-147C>T 559905700 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35578168 35578168 G A 338015 single nucleotide variant NM_000286.2(PEX12):c.-147C>T 559905700 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33905187 33905187 G A 344170 deletion NM_000286.2(PEX12):c.*880_*883delCTTA 35050283 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35574899 35574902 TAAG - 344170 deletion NM_000286.2(PEX12):c.*880_*883delCTTA 35050283 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33901918 33901921 TAAG - 344181 single nucleotide variant NM_000286.2(PEX12):c.*636T>C 111424374 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575146 35575146 A G 344172 single nucleotide variant NM_000286.2(PEX12):c.*836G>C 10068 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35574946 35574946 C G 344172 single nucleotide variant NM_000286.2(PEX12):c.*836G>C 10068 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33901965 33901965 C G 344173 deletion NM_000286.2(PEX12):c.*772_*776delCTAAT 886052825 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575006 35575010 ATTAG - 344173 deletion NM_000286.2(PEX12):c.*772_*776delCTAAT 886052825 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902025 33902029 ATTAG - 344181 single nucleotide variant NM_000286.2(PEX12):c.*636T>C 111424374 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902165 33902165 A G 344182 deletion NM_000286.2(PEX12):c.*550_*552delGTT 147182821 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575230 35575232 AAC - 344182 deletion NM_000286.2(PEX12):c.*550_*552delGTT 147182821 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902249 33902251 AAC - 344184 single nucleotide variant NM_000286.2(PEX12):c.-138T>C 543169335 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35578159 35578159 A G 344184 single nucleotide variant NM_000286.2(PEX12):c.-138T>C 543169335 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33905178 33905178 A G 344193 single nucleotide variant NM_000286.2(PEX12):c.-405C>G 886052834 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35578426 35578426 G C 344193 single nucleotide variant NM_000286.2(PEX12):c.-405C>G 886052834 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33905445 33905445 G C 344194 single nucleotide variant NM_000286.2(PEX12):c.-427G>A 531286605 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35578448 35578448 C T 344194 single nucleotide variant NM_000286.2(PEX12):c.-427G>A 531286605 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33905467 33905467 C T 344197 single nucleotide variant NM_000286.2(PEX12):c.-534C>T 2278950 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35578555 35578555 G A 344197 single nucleotide variant NM_000286.2(PEX12):c.-534C>T 2278950 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33905574 33905574 G A 345578 deletion NM_000286.2(PEX12):c.*569_*570delTT 3031851 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575212 35575213 AA - 345578 deletion NM_000286.2(PEX12):c.*569_*570delTT 3031851 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902231 33902232 AA - 345581 single nucleotide variant NM_000286.2(PEX12):c.*569T>A 541598688 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575213 35575213 A T 345581 single nucleotide variant NM_000286.2(PEX12):c.*569T>A 541598688 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902232 33902232 A T 345583 single nucleotide variant NM_000286.2(PEX12):c.*519A>G 886052827 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575263 35575263 T C 345583 single nucleotide variant NM_000286.2(PEX12):c.*519A>G 886052827 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902282 33902282 T C 345586 single nucleotide variant NM_000286.2(PEX12):c.*335T>C 886052830 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35575447 35575447 A G 345586 single nucleotide variant NM_000286.2(PEX12):c.*335T>C 886052830 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33902466 33902466 A G 345587 single nucleotide variant NM_000286.2(PEX12):c.353T>C (p.Met118Thr) 879075660 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35577365 35577365 A G 345587 single nucleotide variant NM_000286.2(PEX12):c.353T>C (p.Met118Thr) 879075660 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33904384 33904384 A G 345588 single nucleotide variant NM_000286.2(PEX12):c.-108A>G 886052831 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35578129 35578129 T C 345588 single nucleotide variant NM_000286.2(PEX12):c.-108A>G 886052831 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33905148 33905148 T C 345589 single nucleotide variant NM_000286.2(PEX12):c.-428T>C 321600 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35578449 35578449 A G 345589 single nucleotide variant NM_000286.2(PEX12):c.-428T>C 321600 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33905468 33905468 A G 345592 single nucleotide variant NM_000286.2(PEX12):c.-434A>C 771210303 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35578455 35578455 T G 345592 single nucleotide variant NM_000286.2(PEX12):c.-434A>C 771210303 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33905474 33905474 T G 345593 single nucleotide variant NM_000286.2(PEX12):c.-495C>T 577172680 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 35578516 35578516 G A 345593 single nucleotide variant NM_000286.2(PEX12):c.-495C>T 577172680 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 17 33905535 33905535 G A 358425 duplication NM_000286.2(PEX12):c.730_733dupGCCT (p.Leu245Cysfs) 61752107 MedGen:C0282527,OMIM:266510,Orphanet:ORPHA772,SNOMED CT:C0282527;MedGen:C3553929,OMIM:614859 17 35576129 35576132 AGGC AGGCAGGC 358425 duplication NM_000286.2(PEX12):c.730_733dupGCCT (p.Leu245Cysfs) 61752107 MedGen:C0282527,OMIM:266510,Orphanet:ORPHA772,SNOMED CT:C0282527;MedGen:C3553929,OMIM:614859 17 33903148 33903151 AGGC AGGCAGGC 358426 deletion NM_000286.2(PEX12):c.684_687delTAGT (p.Ser229Argfs) 62642859 MedGen:C0282527,OMIM:266510,Orphanet:ORPHA772,SNOMED CT:C0282527;MedGen:C3553929,OMIM:614859 17 33903194 33903197 ACTA - 358426 deletion NM_000286.2(PEX12):c.684_687delTAGT (p.Ser229Argfs) 62642859 MedGen:C0282527,OMIM:266510,Orphanet:ORPHA772,SNOMED CT:C0282527;MedGen:C3553929,OMIM:614859 17 35576175 35576178 ACTA - 358427 single nucleotide variant NM_000286.2(PEX12):c.126+1G>T 144259891 MedGen:C0282527,OMIM:266510,Orphanet:ORPHA772,SNOMED CT:C0282527;MedGen:C3553929,OMIM:614859 17 33904914 33904914 C A 358427 single nucleotide variant NM_000286.2(PEX12):c.126+1G>T 144259891 MedGen:C0282527,OMIM:266510,Orphanet:ORPHA772,SNOMED CT:C0282527;MedGen:C3553929,OMIM:614859 17 35577895 35577895 C A

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000108733.9 PEX12 601758