ClinVar for Gene (Select 57864) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319894	NM_033051.4(SLC46A2):c.734C>A (p.Thr245Asn)	SLC46A2 (T245N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319893	NM_033051.4(SLC46A2):c.1106A>G (p.Lys369Arg)	SLC46A2 (K369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164939	NM_033051.4(SLC46A2):c.97G>A (p.Ala33Thr)	SLC46A2 (A33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164938	NM_033051.4(SLC46A2):c.907G>A (p.Val303Met)	SLC46A2 (V303M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164937	NM_033051.4(SLC46A2):c.794A>G (p.Tyr265Cys)	SLC46A2 (Y265C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164936	NM_033051.4(SLC46A2):c.643T>A (p.Cys215Ser)	SLC46A2 (C215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164934	NM_033051.4(SLC46A2):c.515G>A (p.Arg172His)	SLC46A2 (R172H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164933	NM_033051.4(SLC46A2):c.263C>T (p.Ser88Phe)	SLC46A2 (S88F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164932	NM_033051.4(SLC46A2):c.1310T>C (p.Phe437Ser)	SLC46A2 (F437S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164931	NM_033051.4(SLC46A2):c.1225G>A (p.Val409Ile)	SLC46A2 (V409I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164930	NM_033051.4(SLC46A2):c.1205C>G (p.Ser402Cys)	SLC46A2 (S402C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164929	NM_033051.4(SLC46A2):c.112G>A (p.Ala38Thr)	SLC46A2 (A38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164928	NM_033051.4(SLC46A2):c.1037G>A (p.Arg346Gln)	SLC46A2 (R346Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164927	NM_033051.4(SLC46A2):c.1012G>A (p.Val338Ile)	SLC46A2 (V338I)	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 2616296	NM_033051.4(SLC46A2):c.1331T>C (p.Leu444Pro)	SLC46A2 (L444P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589761	NM_033051.4(SLC46A2):c.314G>A (p.Arg105Gln)	SLC46A2 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589743	NM_033051.4(SLC46A2):c.1415T>C (p.Ile472Thr)	SLC46A2, SNX30 (I472T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555984	NM_033051.4(SLC46A2):c.311A>C (p.His104Pro)	SLC46A2 (H104P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545054	NM_033051.4(SLC46A2):c.904G>A (p.Asp302Asn)	SLC46A2 (D302N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495748	NM_033051.4(SLC46A2):c.488G>C (p.Gly163Ala)	SLC46A2 (G163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494328	NM_033051.4(SLC46A2):c.1016T>C (p.Leu339Pro)	SLC46A2 (L339P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465468	NM_033051.4(SLC46A2):c.1076G>A (p.Gly359Glu)	SLC46A2 (G359E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395868	NM_033051.4(SLC46A2):c.389A>G (p.Asp130Gly)	SLC46A2 (D130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394216	NM_033051.4(SLC46A2):c.250G>A (p.Val84Met)	SLC46A2 (V84M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387648	NM_033051.4(SLC46A2):c.73G>A (p.Val25Met)	SLC46A2 (V25M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387067	NM_033051.4(SLC46A2):c.761G>A (p.Arg254His)	SLC46A2 (R254H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366435	NM_033051.4(SLC46A2):c.284G>A (p.Gly95Glu)	SLC46A2 (G95E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363963	NM_033051.4(SLC46A2):c.314G>C (p.Arg105Pro)	SLC46A2 (R105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330865	NM_033051.4(SLC46A2):c.1357A>G (p.Ile453Val)	SLC46A2 (I453V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327601	NM_033051.4(SLC46A2):c.218C>T (p.Ala73Val)	SLC46A2 (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315268	NM_033051.4(SLC46A2):c.907G>T (p.Val303Leu)	SLC46A2 (V303L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289643	NM_033051.4(SLC46A2):c.635G>C (p.Ser212Thr)	SLC46A2 (S212T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285668	NM_033051.4(SLC46A2):c.871A>G (p.Ile291Val)	SLC46A2 (I291V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274475	NM_033051.4(SLC46A2):c.115G>A (p.Gly39Arg)	SLC46A2 (G39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256187	NM_033051.4(SLC46A2):c.688C>T (p.Pro230Ser)	SLC46A2 (P230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247231	NM_033051.4(SLC46A2):c.842C>T (p.Thr281Ile)	SLC46A2 (T281I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219372	NM_033051.4(SLC46A2):c.338T>C (p.Leu113Pro)	SLC46A2 (L113P)	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 1707440	GRCh37/hg19 9q31.3-32(chr9:113673200-115935268)x1	DNAJC25, DNAJC25-GNG10 +19 more	Copy number loss	See cases	GUncertain significance
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 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 778963	NM_033051.4(SLC46A2):c.777T>C (p.Asp259=)	SLC46A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709859	NM_033051.4(SLC46A2):c.726C>T (p.Ala242=)	SLC46A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709468	NM_033051.4(SLC46A2):c.1097C>T (p.Ala366Val)	SLC46A2 (A366V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 709262	NM_033051.4(SLC46A2):c.759C>T (p.Tyr253=)	SLC46A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	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 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +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 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +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

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Links from Gene

Items: 73