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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GPathogenic
WDR35
(R755T +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GUncertain significance
WDR35
(L641* +1 more)
Single nucleotide variant
(nonsense)
WDR35-related disorder
+4 more
GPathogenic/Likely pathogenic
WDR35
(R557H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WDR35
(S434L +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
(G69D)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GPathogenic/Likely pathogenic
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