Related gene-specific medical variations for Gene (Select 523) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246978	NC_000003.11:g.(?_113505059)_(113507742_?)del	ATP6V1A	Deletion	not provided	GUncertain significance
Select item 2688650	NM_001690.4(ATP6V1A):c.671ATC[1] (p.His225del)	ATP6V1A (H225del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2429847	NM_001690.4(ATP6V1A):c.431G>A (p.Gly144Asp)	ATP6V1A (G144D)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 1679669	NM_001690.4(ATP6V1A):c.248G>A (p.Gly83Asp)	ATP6V1A (G83D)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 3	GUncertain significance
Select item 996901	NM_001690.4(ATP6V1A):c.1532T>C (p.Val511Ala)	ATP6V1A (V511A)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 3	GUncertain significance
Select item 931142	NM_001690.4(ATP6V1A):c.1227-6A>G	ATP6V1A	Single nucleotide variant (intron variant)	Autosomal recessive cutis laxa type 2D	GUncertain significance
Select item 930734	NM_001690.4(ATP6V1A):c.1531G>C (p.Val511Leu)	ATP6V1A (V511L)	Single nucleotide variant (missense variant)	Autosomal recessive cutis laxa type 2D	GUncertain significance

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