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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SSH1
(S754F)
Single nucleotide variant
(missense variant)
SSH1-related disorder
GLikely benign
SSH1
(T678I)
Single nucleotide variant
(missense variant)
SSH1-related disorder
GLikely benign
SSH1
(D485V +1 more)
Single nucleotide variant
(missense variant)
SSH1-related disorder
GLikely benign
LOC130008710, SSH1
Single nucleotide variant
(5 prime UTR variant)
SSH1-related disorder
GLikely benign
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