ATP6V1D[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
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 2375423	NM_015994.4(ATP6V1D):c.599A>T (p.Tyr200Phe)	ATP6V1D, GPHN (Y200F)	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 2558576	NM_015994.4(ATP6V1D):c.425T>C (p.Val142Ala)	ATP6V1D, GPHN (V142A)	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 3131921	NM_015994.4(ATP6V1D):c.89G>T (p.Arg30Leu)	ATP6V1D, GPHN (R30L)	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
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 3063326	GRCh37/hg19 14q23.3-24.1(chr14:67491176-68153682)x3	ARG2, ATP6V1D +10 more	Copy number gain	not specified	GUncertain significance
Select item 2684729	GRCh37/hg19 14q23.3-24.1(chr14:67443098-68423187)x3	ARG2, ATP6V1D +13 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1527823	GRCh37/hg19 14q23.3-24.1(chr14:67443801-68153682)	ARG2, ATP6V1D +10 more	Copy number gain	not specified	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 1015841	NC_000014.8:g.(?_65937790)_(68354021_?)dup	RAD51B, RDH11 +14 more	Duplication	Leber congenital amaurosis 13	GUncertain significance
Select item 815669	GRCh37/hg19 14q23.3-24.1(chr14:67331167-68451970)x3	TMEM229B, PLEKHH1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic

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Items: 24