Related gene-specific medical variations for Gene (Select 570) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 442093	GRCh37/hg19 9q31.1(chr9:103621724-104150362)x1	BAAT	Copy number loss	See cases	GLikely benign
Select item 21301	NM_001701.4(BAAT):c.967A>G (p.Ile323Val)	BAAT (I323V)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Gnot provided
Select item 21300	NM_001701.4(BAAT):c.858C>G (p.Ser286=)	BAAT	Single nucleotide variant (synonymous variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Gnot provided

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