Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 51080 deletion NM_007075.3(WDR45):c.1007_1008delAT (p.Tyr336Cysfs) 387907328 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284;MedGen:CN221809 X 48932540 48932541 AT - 51080 deletion NM_007075.3(WDR45):c.1007_1008delAT (p.Tyr336Cysfs) 387907328 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284;MedGen:CN221809 X 49074881 49074882 AT - 51081 single nucleotide variant NM_007075.3(WDR45):c.700C>T (p.Arg234Ter) 387907329 Human Phenotype Ontology:HP:0001344,MedGen:C1856200;Human Phenotype Ontology:HP:0002194,MedGen:CN001989;Human Phenotype Ontology:HP:0000750,MedGen:CN000706;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0002079,MedGen:C1853617;MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284;Human Phenotype Ontology:HP:0001250,MedGen:C1959629;MedGen:CN221809 X 48933232 48933232 G A 51081 single nucleotide variant NM_007075.3(WDR45):c.700C>T (p.Arg234Ter) 387907329 Human Phenotype Ontology:HP:0001344,MedGen:C1856200;Human Phenotype Ontology:HP:0002194,MedGen:CN001989;Human Phenotype Ontology:HP:0000750,MedGen:CN000706;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0002079,MedGen:C1853617;MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284;Human Phenotype Ontology:HP:0001250,MedGen:C1959629;MedGen:CN221809 X 49075573 49075573 G A 51082 single nucleotide variant NM_007075.3(WDR45):c.519G>C (p.Val173=) 387907330 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284 X 48933525 48933525 C G 51082 single nucleotide variant NM_007075.3(WDR45):c.519G>C (p.Val173=) 387907330 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284 X 49075866 49075866 C G 51083 duplication NM_007075.3(WDR45):c.437dupA (p.Leu148Alafs) 387907331 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284 X 48934091 48934091 T TT 51083 duplication NM_007075.3(WDR45):c.437dupA (p.Leu148Alafs) 387907331 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284 X 49076432 49076432 T TT 51084 single nucleotide variant NM_007075.3(WDR45):c.637C>T (p.Gln213Ter) 387907332 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284 X 48933295 48933295 G A 51084 single nucleotide variant NM_007075.3(WDR45):c.637C>T (p.Gln213Ter) 387907332 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284 X 49075636 49075636 G A 194952 single nucleotide variant NM_007075.3(WDR45):c.235+18G>T 55727094 MedGen:CN169374 X 48935284 48935284 C A 194952 single nucleotide variant NM_007075.3(WDR45):c.235+18G>T 55727094 MedGen:CN169374 X 49077625 49077625 C A 209072 single nucleotide variant NM_007075.3(WDR45):c.1033A>G (p.Asn345Asp) 797046100 MedGen:CN233043 X 49074856 49074856 T C 209072 single nucleotide variant NM_007075.3(WDR45):c.1033A>G (p.Asn345Asp) 797046100 MedGen:CN233043 X 48932515 48932515 T C 209073 duplication NM_007075.3(WDR45):c.969dupT (p.Val324Cysfs) 797046105 MedGen:CN233043 X 48932802 48932802 A AA 209073 duplication NM_007075.3(WDR45):c.969dupT (p.Val324Cysfs) 797046105 MedGen:CN233043 X 49075143 49075143 A AA 209074 single nucleotide variant NM_007075.3(WDR45):c.866G>T (p.Gly289Val) 797046104 MedGen:CN169374 X 49075246 49075246 C A 209074 single nucleotide variant NM_007075.3(WDR45):c.866G>T (p.Gly289Val) 797046104 MedGen:CN169374 X 48932905 48932905 C A 209075 deletion NM_007075.3(WDR45):c.830+2_830+3del 797046103 MedGen:CN233043 X 48933020 48933021 CA - 209075 deletion NM_007075.3(WDR45):c.830+2_830+3del 797046103 MedGen:CN233043 X 49075361 49075362 CA - 209076 single nucleotide variant NM_007075.3(WDR45):c.519+1G>T 797046102 MedGen:CN233043 X 48933524 48933524 C A 209076 single nucleotide variant NM_007075.3(WDR45):c.519+1G>T 797046102 MedGen:CN233043 X 49075865 49075865 C A 209077 single nucleotide variant NM_007075.3(WDR45):c.400C>T (p.Arg134Ter) 797046101 MedGen:CN233043;MedGen:CN221809 X 49076469 49076469 G A 209077 single nucleotide variant NM_007075.3(WDR45):c.400C>T (p.Arg134Ter) 797046101 MedGen:CN233043;MedGen:CN221809 X 48934128 48934128 G A 215663 deletion NM_007075.3(WDR45):c.161_163delTGG (p.Val54del) 864309661 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284 X 49077715 49077717 CCA - 215663 deletion NM_007075.3(WDR45):c.161_163delTGG (p.Val54del) 864309661 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284 X 48935374 48935376 CCA - 225806 single nucleotide variant NM_007075.3(WDR45):c.976+1G>A 869312661 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284 X 49075135 49075135 C T 225806 single nucleotide variant NM_007075.3(WDR45):c.976+1G>A 869312661 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284 X 48932794 48932794 C T 227711 deletion NM_001029896.1(WDR45):c.777delT (p.Thr260Leufs) 875989804 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284 X 48933073 48933073 A - 227711 deletion NM_001029896.1(WDR45):c.777delT (p.Thr260Leufs) 875989804 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284 X 49075414 49075414 A - 243898 single nucleotide variant NM_007075.3(WDR45):c.614G>A (p.Gly205Asp) 878855326 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284 X 48933318 48933318 C T 243898 single nucleotide variant NM_007075.3(WDR45):c.614G>A (p.Gly205Asp) 878855326 MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284 X 49075659 49075659 C T 260331 single nucleotide variant NM_007075.3(WDR45):c.830+1G>A -1 MedGen:CN221809 X 48933022 48933022 C T 260331 single nucleotide variant NM_007075.3(WDR45):c.830+1G>A -1 MedGen:CN221809 X 49075363 49075363 C T 260332 single nucleotide variant NM_007075.3(WDR45):c.46C>T (p.Gln16Ter) -1 MedGen:CN221809 X 48935709 48935709 G A 260332 single nucleotide variant NM_007075.3(WDR45):c.46C>T (p.Gln16Ter) -1 MedGen:CN221809 X 49078050 49078050 G A 264899 deletion NM_007075.3(WDR45):c.670_671delCA (p.Gln224Ilefs) 886041994 MedGen:CN221809 X 48933261 48933262 TG - 264899 deletion NM_007075.3(WDR45):c.670_671delCA (p.Gln224Ilefs) 886041994 MedGen:CN221809 X 49075602 49075603 TG - 265025 deletion NM_007075.3(WDR45):c.774_775delTA (p.Asp258Glufs) 886041605 MedGen:CN221809 X 48933078 48933079 TA - 265025 deletion NM_007075.3(WDR45):c.774_775delTA (p.Asp258Glufs) 886041605 MedGen:CN221809 X 49075419 49075420 TA - 265026 single nucleotide variant NM_007075.3(WDR45):c.19C>T (p.Arg7Ter) 886041382 MedGen:CN221809 X 48935736 48935736 G A 265026 single nucleotide variant NM_007075.3(WDR45):c.19C>T (p.Arg7Ter) 886041382 MedGen:CN221809 X 49078077 49078077 G A 265108 single nucleotide variant NM_007075.3(WDR45):c.440-2A>G 886041693 MedGen:CN221809 X 48933606 48933606 T C 265108 single nucleotide variant NM_007075.3(WDR45):c.440-2A>G 886041693 MedGen:CN221809 X 49075947 49075947 T C 265165 deletion NM_007075.3(WDR45):c.587_588delTA (p.Ile196Serfs) 886041381 MedGen:CN221809 X 48933344 48933345 TA - 265165 deletion NM_007075.3(WDR45):c.587_588delTA (p.Ile196Serfs) 886041381 MedGen:CN221809 X 49075685 49075686 TA - 267206 single nucleotide variant NM_007075.3(WDR45):c.841G>A (p.Val281Met) 149509552 MedGen:CN169374 X 48932930 48932930 C T 267206 single nucleotide variant NM_007075.3(WDR45):c.841G>A (p.Val281Met) 149509552 MedGen:CN169374 X 49075271 49075271 C T 275125 single nucleotide variant NM_007075.3(WDR45):c.939C>T (p.Phe313=) 199814778 MedGen:CN169374 X 48932832 48932832 G A 275125 single nucleotide variant NM_007075.3(WDR45):c.939C>T (p.Phe313=) 199814778 MedGen:CN169374 X 49075173 49075173 G A 360656 single nucleotide variant NM_007075.3(WDR45):c.874G>A (p.Val292Met) -1 MedGen:CN169374 X 49075238 49075238 C T 360656 single nucleotide variant NM_007075.3(WDR45):c.874G>A (p.Val292Met) -1 MedGen:CN169374 X 48932897 48932897 C T 360698 single nucleotide variant NM_007075.3(WDR45):c.830+5G>A -1 MedGen:CN221809 X 49075359 49075359 C T 360698 single nucleotide variant NM_007075.3(WDR45):c.830+5G>A -1 MedGen:CN221809 X 48933018 48933018 C T

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000196998.17 WDR45 300526