ATP6V1G1[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 152172	GRCh38/hg38 9q32(chr9:114193726-114677465)x3	AKNA, ATP6V1G1 +32 more	Copy number gain	See cases	GBenign
Select item 58481	GRCh38/hg38 9q32(chr9:114246876-114637081)x3	AKNA, ATP6V1G1 +29 more	Copy number gain	See cases	GUncertain significance
Select item 149899	GRCh38/hg38 9q32(chr9:114246889-114637174)x3	AKNA, ATP6V1G1 +29 more	Copy number gain	See cases	GLikely benign
Select item 58482	GRCh38/hg38 9q32(chr9:114270395-114677524)x3	AKNA, ATP6V1G1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 3329611	NM_004888.4(ATP6V1G1):c.35T>G (p.Leu12Arg)	ATP6V1G1 (L12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131930	NM_004888.4(ATP6V1G1):c.47A>G (p.Lys16Arg)	ATP6V1G1 (K16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131931	NM_004888.4(ATP6V1G1):c.81A>C (p.Lys27Asn)	ATP6V1G1 (K27N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329591	NM_004888.4(ATP6V1G1):c.142C>T (p.Arg48Cys)	ATP6V1G1 (R48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329622	NM_004888.4(ATP6V1G1):c.208A>C (p.Ser70Arg)	ATP6V1G1 (S70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131928	NM_004888.4(ATP6V1G1):c.233A>G (p.Gln78Arg)	ATP6V1G1 (Q78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514490	NM_004888.4(ATP6V1G1):c.233A>T (p.Gln78Leu)	ATP6V1G1 (Q78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329206	NM_004888.4(ATP6V1G1):c.236A>C (p.Glu79Ala)	ATP6V1G1 (E79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224705	NM_004888.4(ATP6V1G1):c.319C>T (p.Arg107Trp)	ATP6V1G1 (R107W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131929	NM_004888.4(ATP6V1G1):c.343C>T (p.Arg115Cys)	ATP6V1G1 (R115C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329600	NM_004888.4(ATP6V1G1):c.346A>C (p.Ile116Leu)	ATP6V1G1 (I116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527546	GRCh37/hg19 9q32-33.1(chr9:116506015-119942279)	AKNA, AMBP +16 more	Copy number loss	not specified	GUncertain significance
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527542	GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)	ABITRAM, ACTL7A +61 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 979866	GRCh37/hg19 9q32(chr9:117324844-117443628)x1	TMEM268, ATP6V1G1	Copy number loss	not provided	GUncertain significance
Select item 815280	GRCh37/hg19 9q32(chr9:117270143-117497954)x1	ATP6V1G1, TMEM268	Copy number loss	not provided	GUncertain significance
Select item 815278	GRCh37/hg19 9q32(chr9:116642144-117613527)x1	ORM1, TNFSF15 +9 more	Copy number loss	not provided	GUncertain significance
Select item 687421	GRCh37/hg19 9q32(chr9:116936770-117450535)x3	AKNA, ATP6V1G1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 686835	GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1	AKNA, ALAD +39 more	Copy number loss	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 442115	GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1	AKNA, ALAD +48 more	Copy number loss	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394605	GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1	ABITRAM, ACTL7A +61 more	Copy number loss	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 50