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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR35
(I1167R +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
WDR35
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
WDR35
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
WDR35
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+3 more
GLikely benign
WDR35
(E1011* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
WDR35
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+3 more
GConflicting classifications of pathogenicity
WDR35
(E983G +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+2 more
GBenign
WDR35
(L973R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+2 more
GBenign
WDR35
(Y937C +1 more)
Single nucleotide variant
(missense variant)
WDR35-related condition
+3 more
GConflicting classifications of pathogenicity
WDR35
(L904S +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+3 more
GConflicting classifications of pathogenicity
LOC129933186, WDR35
(V867F +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+3 more
GBenign
WDR35
(I728V +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+4 more
GBenign/Likely benign
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+3 more
GConflicting classifications of pathogenicity
WDR35
(R700H +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+4 more
GConflicting classifications of pathogenicity
WDR35
(G520V +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
WDR35
(Q501fs +1 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
WDR35
(M490V +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
WDR35
Single nucleotide variant
(splice donor variant)
Cranioectodermal dysplasia 2
+2 more
GPathogenic/Likely pathogenic
WDR35
(I427M +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+3 more
GConflicting classifications of pathogenicity
WDR35
(T409M)
Single nucleotide variant
(missense variant +1 more)
Cranioectodermal dysplasia 2
+2 more
GUncertain significance
WDR35
Single nucleotide variant
(synonymous variant +1 more)
Connective tissue disorder
+3 more
GConflicting classifications of pathogenicity
WDR35
Single nucleotide variant
(synonymous variant +1 more)
Cranioectodermal dysplasia 2
+2 more
GConflicting classifications of pathogenicity
WDR35
(N395Y)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+3 more
GConflicting classifications of pathogenicity
WDR35
(V358I)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+3 more
GConflicting classifications of pathogenicity
WDR35
(P351A)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+3 more
GConflicting classifications of pathogenicity
WDR35
(V257A)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+4 more
GBenign/Likely benign
WDR35
(M254V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR35
(W150C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR35
(R119C)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+4 more
GConflicting classifications of pathogenicity
WDR35
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
WDR35
(Y83C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR35
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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