Related gene-specific medical variations for Gene (Select 51382) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3131921	NM_015994.4(ATP6V1D):c.89G>T (p.Arg30Leu)	ATP6V1D, GPHN (R30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131920	NM_015994.4(ATP6V1D):c.65G>A (p.Arg22His)	ATP6V1D, GPHN (R22H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131919	NM_015994.4(ATP6V1D):c.613A>C (p.Ile205Leu)	ATP6V1D, GPHN (I205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131918	NM_015994.4(ATP6V1D):c.587G>A (p.Arg196Gln)	ATP6V1D, GPHN (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131917	NM_015994.4(ATP6V1D):c.490A>G (p.Ile164Val)	ATP6V1D, GPHN (I164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131916	NM_015994.4(ATP6V1D):c.484A>G (p.Ile162Val)	ATP6V1D, GPHN (I162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131915	NM_015994.4(ATP6V1D):c.446C>T (p.Ala149Val)	ATP6V1D, GPHN (A149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623365	NM_015994.4(ATP6V1D):c.169T>A (p.Leu57Met)	ATP6V1D, GPHN (L57M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558576	NM_015994.4(ATP6V1D):c.425T>C (p.Val142Ala)	ATP6V1D, GPHN (V142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375423	NM_015994.4(ATP6V1D):c.599A>T (p.Tyr200Phe)	ATP6V1D, GPHN (Y200F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334008	NM_015994.4(ATP6V1D):c.89G>A (p.Arg30Gln)	ATP6V1D, GPHN (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance