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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HCCS
(E159K)
Single nucleotide variant
(missense variant)
Linear skin defects with multiple congenital anomalies 1
Gnot provided
HCCS
(R197*)
Single nucleotide variant
(nonsense)
Linear skin defects with multiple congenital anomalies 1
GPathogenic
HCCS
(R217C)
Single nucleotide variant
(missense variant)
HCCS-related condition
GLikely pathogenic
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