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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDK13, LOC129998292
(A162fs)
Duplication
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDK13
(R868Q)
Single nucleotide variant
(missense variant)
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
GConflicting classifications of pathogenicity
CDK13
(P933A)
Single nucleotide variant
(missense variant)
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
GLikely pathogenic
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