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Links from MedGen

Items: 1 to 100 of 114

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR19
(K1111E)
Single nucleotide variant
(missense variant)
Spermatogenic failure 72
GPathogenic
WDR19
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 5
+5 more
GLikely benign
WDR19
Single nucleotide variant
(intron variant)
Spermatogenic failure 72
+4 more
GLikely benign
WDR19
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 8
+5 more
GLikely benign
WDR19
Single nucleotide variant
(intron variant)
Nephronophthisis 13
+4 more
GLikely benign
WDR19
Single nucleotide variant
(intron variant)
Spermatogenic failure 72
+4 more
GLikely benign
WDR19
Single nucleotide variant
(synonymous variant)
Asphyxiating thoracic dystrophy 5
+4 more
GLikely benign
WDR19
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 5
+4 more
GBenign/Likely benign
WDR19
Single nucleotide variant
(intron variant)
Spermatogenic failure 72
+4 more
GLikely benign
WDR19
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 5
+4 more
GLikely benign
WDR19
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 5
+4 more
GLikely benign
WDR19
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 8
+4 more
GLikely benign
WDR19
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 8
+4 more
GUncertain significance
WDR19
(V767I +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 8
+4 more
GUncertain significance
WDR19
(I1033M +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 8
+4 more
GUncertain significance
WDR19
(R1094C +1 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 13
+4 more
GUncertain significance
WDR19
(S326C +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+4 more
GUncertain significance
WDR19
(Q659K +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+5 more
GUncertain significance
WDR19
(A713V +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+4 more
GUncertain significance
WDR19
(V336I +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 8
+5 more
GUncertain significance
WDR19
(Y454C +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 8
+4 more
GUncertain significance
WDR19
Single nucleotide variant
(synonymous variant)
Asphyxiating thoracic dystrophy 5
+4 more
GConflicting classifications of pathogenicity
WDR19
(P390T +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+4 more
GUncertain significance
WDR19
(T570I +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+4 more
GUncertain significance
WDR19
(M529T +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+4 more
GUncertain significance
WDR19
(R1094H +1 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 13
+4 more
GUncertain significance
WDR19
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 8
+4 more
GUncertain significance
WDR19
(R304H +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 8
+4 more
GUncertain significance
WDR19
(Q947* +1 more)
Single nucleotide variant
(nonsense)
Senior-Loken syndrome 8
+4 more
GPathogenic/Likely pathogenic
WDR19
(R272C +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 8
+4 more
GUncertain significance
WDR19
(T11M +1 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 13
+4 more
GUncertain significance
WDR19
(M1056V +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 72
+4 more
GUncertain significance
WDR19
(V657E +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 8
+4 more
GUncertain significance
WDR19
(T985K +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 72
+4 more
GUncertain significance
WDR19
(Q179R +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+4 more
GUncertain significance
WDR19
(R669* +1 more)
Single nucleotide variant
(nonsense)
Senior-Loken syndrome 8
+5 more
GPathogenic/Likely pathogenic
WDR19
(L328F +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 8
+5 more
GUncertain significance
WDR19
Deletion
(intron variant)
Nephronophthisis 13
+5 more
GBenign/Likely benign
WDR19
Single nucleotide variant
(synonymous variant)
Senior-Loken syndrome 8
+5 more
GBenign/Likely benign
WDR19
Single nucleotide variant
(synonymous variant)
Senior-Loken syndrome 8
+4 more
GLikely benign
WDR19
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 72
+4 more
GLikely benign
WDR19
Single nucleotide variant
(synonymous variant)
Asphyxiating thoracic dystrophy 5
+4 more
GLikely benign
WDR19
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 8
+4 more
GLikely benign
WDR19
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 72
+4 more
GLikely benign
WDR19
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 5
+4 more
GLikely benign
WDR19
Deletion
(intron variant)
Senior-Loken syndrome 8
+4 more
GLikely benign
WDR19
Single nucleotide variant
(synonymous variant)
Senior-Loken syndrome 8
+4 more
GLikely benign
WDR19
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 8
+4 more
GLikely benign
WDR19
(R1018W +1 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 13
+4 more
GUncertain significance
WDR19
(Y1010C +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+4 more
GUncertain significance
WDR19
(M492I +1 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 13
+4 more
GUncertain significance
WDR19
(R3H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 8
+4 more
GUncertain significance
WDR19
(H527Y +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+4 more
GUncertain significance
WDR19
(P222A +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 8
+4 more
GUncertain significance
WDR19
(I662V +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 72
+4 more
GConflicting classifications of pathogenicity
WDR19
(F1017V +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 72
+6 more
GUncertain significance
WDR19
(T205A +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+4 more
GUncertain significance
WDR19
(G109E)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 8
+4 more
GUncertain significance
WDR19
(G115R)
Single nucleotide variant
(missense variant +1 more)
Spermatogenic failure 72
+4 more
GUncertain significance
WDR19
(V252I +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+4 more
GUncertain significance
WDR19
(A1163T +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 8
+4 more
GUncertain significance
WDR19
(Y538S +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+5 more
GUncertain significance
WDR19
(V216A +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 72
+4 more
GUncertain significance
WDR19
(D1168N +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+5 more
GUncertain significance
WDR19
(N231S +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+4 more
GUncertain significance
WDR19
(P1220L +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 8
+4 more
GUncertain significance
WDR19
(T1090M +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+4 more
GUncertain significance
WDR19
(A213G +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+5 more
GUncertain significance
WDR19
(R963Q +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+5 more
GUncertain significance
WDR19
(A1068G +1 more)
Single nucleotide variant
(missense variant)
WDR19-related condition
+7 more
GUncertain significance
WDR19
(K160R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cranioectodermal dysplasia 4
+5 more
GUncertain significance
WDR19
(R536H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
WDR19
Single nucleotide variant
(intron variant)
WDR19-related condition
+6 more
GUncertain significance
WDR19
(E1146K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
WDR19
(Q432L +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+4 more
GUncertain significance
WDR19
(A387T +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 4
+4 more
GUncertain significance
WDR19
(H100Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
WDR19
(D70A +1 more)
Single nucleotide variant
(missense variant)
WDR19-related condition
+6 more
GUncertain significance
WDR19
(N720S +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+5 more
GUncertain significance
WDR19
(P1115A +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
WDR19
(D578E +1 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 13
+4 more
GUncertain significance
WDR19
(S889L +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 8
+4 more
GUncertain significance
WDR19
(R352Q +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+4 more
GUncertain significance
WDR19
(A904T +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 8
+4 more
GUncertain significance
WDR19
Single nucleotide variant
(splice donor variant)
Asphyxiating thoracic dystrophy 5
+4 more
GLikely pathogenic
WDR19
(A439V +1 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 13
+5 more
GUncertain significance
WDR19
Single nucleotide variant
(synonymous variant)
Senior-Loken syndrome 8
+5 more
GLikely benign
WDR19
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 8
+5 more
GLikely benign
WDR19
Single nucleotide variant
(synonymous variant)
Senior-Loken syndrome 8
+5 more
GLikely benign
WDR19
Single nucleotide variant
(synonymous variant)
Senior-Loken syndrome 8
+4 more
GLikely benign
WDR19
(A747V +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+5 more
GUncertain significance
WDR19
(R130Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
WDR19
Single nucleotide variant
(synonymous variant)
Asphyxiating thoracic dystrophy 5
+6 more
GLikely benign
WDR19
(Y541* +1 more)
Single nucleotide variant
(nonsense)
Cranioectodermal dysplasia
+5 more
GPathogenic/Likely pathogenic
WDR19
(C1270S +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 72
+4 more
GUncertain significance
WDR19
(N273D +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 5
+4 more
GUncertain significance
WDR19
(R1103Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
WDR19
(A958T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
WDR19
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 4
+4 more
GBenign/Likely benign
WDR19
(M1147V +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 4
+4 more
GUncertain significance
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