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Items: 1 to 100 of 252

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR62
(Q382* +2 more)
Single nucleotide variant
(nonsense)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
Single nucleotide variant
(splice acceptor variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(R440W +2 more)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(S1120fs +3 more)
Deletion
(frameshift variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(A342T)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(C300fs)
Deletion
(frameshift variant +1 more)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(E1036K +3 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(G81D)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(L401fs)
Duplication
(frameshift variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GPathogenic
WDR62
(C689W +2 more)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(R645W +2 more)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(M22I)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(L514S +2 more)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(H154Y)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(I519L +2 more)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(Q1025* +4 more)
Single nucleotide variant
(nonsense)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(E531fs)
Duplication
(frameshift variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(V191I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WDR62
(T1239fs +1 more)
Deletion
(frameshift variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
+1 more
GPathogenic
WDR62
(R379Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WDR62
Single nucleotide variant
(intron variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(S107* +3 more)
Single nucleotide variant
(nonsense)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GPathogenic
WDR62
Single nucleotide variant
(splice acceptor variant +1 more)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(W1171* +4 more)
Single nucleotide variant
(nonsense)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GPathogenic
WDR62
(E536*)
Duplication
(nonsense +1 more)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GPathogenic
WDR62
(G1133* +1 more)
Single nucleotide variant
(nonsense)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(D380N)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(H84fs)
Duplication
(frameshift variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GPathogenic
WDR62
(R512L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WDR62
(A1152T +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
+3 more
GUncertain significance
WDR62
Single nucleotide variant
(synonymous variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
+1 more
GConflicting classifications of pathogenicity
WDR62
(H220R)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(H1025fs)
Deletion
(frameshift variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(Q754*)
Single nucleotide variant
(nonsense)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
Deletion
(splice acceptor variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(W398*)
Single nucleotide variant
(nonsense)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(I68fs)
Duplication
(frameshift variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GPathogenic
WDR62
(L1461Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WDR62
Single nucleotide variant
(intron variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
+1 more
GBenign/Likely benign
WDR62
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
WDR62
Single nucleotide variant
(intron variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(V161M)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(R111T)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(D390G)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(S1123fs +1 more)
Deletion
(frameshift variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GPathogenic
WDR62
(S509L)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(A1152fs +1 more)
Deletion
(frameshift variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GPathogenic
WDR62
(H533R)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(Y655fs)
Duplication
(frameshift variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(I40V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR62
(T829I)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(R863H)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
Single nucleotide variant
(splice acceptor variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
+1 more
GConflicting classifications of pathogenicity
WDR62
(E526*)
Single nucleotide variant
(nonsense)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GPathogenic
WDR62
(L910M)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(Q1449* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
WDR62
(K984E)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(A110T)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
+2 more
GUncertain significance
WDR62
(C91Y)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(G81S)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
Single nucleotide variant
(synonymous variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(P1312L +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(R1281H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WDR62
Single nucleotide variant
(synonymous variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(T875I)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
WDR62
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
WDR62
(C41S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WDR62
(M22L)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
Single nucleotide variant
(3 prime UTR variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
Single nucleotide variant
(intron variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(G395S)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WDR62
(S298P)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(S275L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
WDR62
Single nucleotide variant
(intron variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
WDR62
(K667R)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
Single nucleotide variant
(intron variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
Single nucleotide variant
(intron variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(Y570C)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
+2 more
GUncertain significance
WDR62
(S268T)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
Single nucleotide variant
(synonymous variant)
WDR62-related disorder
+2 more
GConflicting classifications of pathogenicity
WDR62
(C279Y)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(W224fs)
Deletion
(frameshift variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GPathogenic
WDR62
(L1412fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GLikely pathogenic
WDR62
(R608fs)
Duplication
(frameshift variant)
not provided
GPathogenic
WDR62
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WDR62
(R1340C +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
+1 more
GConflicting classifications of pathogenicity
WDR62
(Q930*)
Single nucleotide variant
(nonsense)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GPathogenic
WDR62
(F1423S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
Single nucleotide variant
(intron variant)
WDR62-related disorder
+3 more
GConflicting classifications of pathogenicity
WDR62
Deletion
(splice acceptor variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(H562D)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
WDR62
(A1293D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WDR62
(P26fs)
Duplication
(frameshift variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GUncertain significance
WDR62
(V377L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WDR62
(K664del)
Microsatellite
(inframe_deletion)
not provided
+2 more
GConflicting classifications of pathogenicity
WDR62
(A1020T)
Single nucleotide variant
(missense variant)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
+1 more
GConflicting classifications of pathogenicity
WDR62
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
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