"Ambry Genetics"[submitter] AND "ATP6V1G3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2593439	NM_001376861.1(ATP6V1G3):c.347C>G (p.Ala116Gly)	ATP6V1G3 (A122G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353213	NM_001376861.1(ATP6V1G3):c.316A>G (p.Met106Val)	ATP6V1G3 (M112V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2212377	NM_001376861.1(ATP6V1G3):c.295C>A (p.Leu99Ile)	ATP6V1G3 (L105I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596721	NM_001376861.1(ATP6V1G3):c.229A>G (p.Thr77Ala)	ATP6V1G3 (T83A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340569	NM_001376861.1(ATP6V1G3):c.178T>C (p.Ser60Pro)	ATP6V1G3 (S60P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322489	NM_001376861.1(ATP6V1G3):c.13T>C (p.Ser5Pro)	ATP6V1G3 (S5P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar