Related gene-specific medical variations for Gene (Select 438) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688616	NM_001171038.2(ASMT):c.687C>A (p.Tyr229Ter)	ASMT (Y201* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2688615	NM_001171038.2(ASMT):c.796T>G (p.Phe266Val)	ASMT (F191V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 150560	GRCh38/hg38 Xp22.33(chrX:1636755-1816481)x3	ASMT	Copy number gain	See cases	GLikely benign
Select item 145304	GRCh38/hg38 Xp22.33(chrX:1636755-1854368)x3	ASMT	Copy number gain	See cases	GUncertain significance

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