Related gene-specific medical variations for Gene (Select 534) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3131933	NM_130463.4(ATP6V1G2):c.337A>G (p.Asn113Asp)	ATP6V1G2, ATP6V1G2-DDX39B (N113D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131932	NM_130463.4(ATP6V1G2):c.256A>T (p.Ser86Cys)	ATP6V1G2, ATP6V1G2-DDX39B (S86C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542492	NM_130463.4(ATP6V1G2):c.158A>G (p.His53Arg)	ATP6V1G2, ATP6V1G2-DDX39B (H12R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2321742	NM_130463.4(ATP6V1G2):c.273C>G (p.Asn91Lys)	ATP6V1G2, ATP6V1G2-DDX39B (N50K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219824	NM_130463.4(ATP6V1G2):c.299T>C (p.Leu100Pro)	ATP6V1G2, ATP6V1G2-DDX39B (L60P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212128	NM_130463.4(ATP6V1G2):c.92G>A (p.Arg31Gln)	ATP6V1G2, ATP6V1G2-DDX39B (R31Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance

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