ClinVar for MedGen (Select 1376619) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627987	NM_001690.4(ATP6V1A):c.299A>T (p.Asp100Val)	ATP6V1A (D100V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 3 +1 more	GLikely pathogenic
Select item 1584157	NM_001690.4(ATP6V1A):c.1291-7dup	ATP6V1A	Duplication (intron variant)	Autosomal recessive cutis laxa type 2D +2 more	GBenign/Likely benign
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
Select item 417773	NM_001690.4(ATP6V1A):c.215G>A (p.Gly72Asp)	ATP6V1A (G72D)	Single nucleotide variant (missense variant)	Autosomal recessive cutis laxa type 2D	GPathogenic
Select item 417772	NM_001690.4(ATP6V1A):c.1012C>T (p.Arg338Cys)	ATP6V1A (R338C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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