ClinVar for Gene (Select 9550) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3329611	NM_004888.4(ATP6V1G1):c.35T>G (p.Leu12Arg)	ATP6V1G1 (L12R)	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 3329591	NM_004888.4(ATP6V1G1):c.142C>T (p.Arg48Cys)	ATP6V1G1 (R48C)	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 3131930	NM_004888.4(ATP6V1G1):c.47A>G (p.Lys16Arg)	ATP6V1G1 (K16R)	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 3131928	NM_004888.4(ATP6V1G1):c.233A>G (p.Gln78Arg)	ATP6V1G1 (Q78R)	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 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 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)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +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
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 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	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 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149899	GRCh38/hg38 9q32(chr9:114246889-114637174)x3	AKNA, ATP6V1G1 +29 more	Copy number gain	See cases	GLikely benign
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	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 58482	GRCh38/hg38 9q32(chr9:114270395-114677524)x3	AKNA, ATP6V1G1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 58481	GRCh38/hg38 9q32(chr9:114246876-114637081)x3	AKNA, ATP6V1G1 +29 more	Copy number gain	See cases	GUncertain significance
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 50