"Ambry Genetics"[submitter] AND "GARIN6"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2463386	NM_153364.4(GARIN6):c.183C>A (p.Asp61Glu)	ANKS1B, GARIN6 (D61E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615454	NM_153364.4(GARIN6):c.229A>T (p.Ser77Cys)	ANKS1B, GARIN6 (S77C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605673	NM_153364.4(GARIN6):c.488T>C (p.Phe163Ser)	ANKS1B, GARIN6 (F163S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495078	NM_153364.4(GARIN6):c.661A>C (p.Ser221Arg)	ANKS1B, GARIN6 (S221R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2510198	NM_153364.4(GARIN6):c.674T>A (p.Met225Lys)	ANKS1B, GARIN6 (M225K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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