ClinVar for Gene (Select 23446) - ClinVar

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Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3164818	NM_080546.5(SLC44A1):c.937C>T (p.Arg313Cys)	SLC44A1 (R313C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164817	NM_080546.5(SLC44A1):c.859C>T (p.Arg287Trp)	SLC44A1 (R287W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164816	NM_080546.5(SLC44A1):c.71G>A (p.Arg24His)	LOC126860714, SLC44A1 (R24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164815	NM_080546.5(SLC44A1):c.436C>T (p.Pro146Ser)	SLC44A1 (P146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164814	NM_080546.5(SLC44A1):c.368A>G (p.Lys123Arg)	SLC44A1 (K123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164812	NM_080546.5(SLC44A1):c.1924G>A (p.Ala642Thr)	SLC44A1 (A642T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164811	NM_080546.5(SLC44A1):c.1786G>T (p.Val596Leu)	SLC44A1 (V596L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164810	NM_080546.5(SLC44A1):c.1499C>T (p.Ala500Val)	SLC44A1 (A500V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164809	NM_080546.5(SLC44A1):c.1309C>T (p.Arg437Cys)	SLC44A1 (R437C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164808	NM_080546.5(SLC44A1):c.1289C>T (p.Ala430Val)	SLC44A1 (A430V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164807	NM_080546.5(SLC44A1):c.1256A>T (p.Asp419Val)	SLC44A1 (D419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063058	GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1	ABCA1, ALDOB +34 more	Copy number loss	not specified	GPathogenic
Select item 3059918	NM_080546.5(SLC44A1):c.*862G>A	SLC44A1	Single nucleotide variant (3 prime UTR variant +1 more)	SLC44A1-related disorder	GBenign
Select item 3057187	NM_080546.5(SLC44A1):c.1930T>G (p.Ser644Ala)	SLC44A1 (S644A)	Single nucleotide variant (missense variant)	SLC44A1-related disorder	GBenign
Select item 3053180	NM_080546.5(SLC44A1):c.673C>T (p.Leu225=)	SLC44A1	Single nucleotide variant (synonymous variant)	SLC44A1-related disorder	GLikely benign
Select item 3045943	NM_080546.5(SLC44A1):c.1701A>G (p.Val567=)	SLC44A1	Single nucleotide variant (synonymous variant)	SLC44A1-related disorder	GBenign
Select item 3044954	NM_080546.5(SLC44A1):c.670+9T>C	SLC44A1	Single nucleotide variant (intron variant)	SLC44A1-related disorder	GBenign
Select item 3043289	NM_080546.5(SLC44A1):c.954C>A (p.Ile318=)	SLC44A1	Single nucleotide variant (synonymous variant)	SLC44A1-related disorder	GBenign
Select item 3039675	NM_080546.5(SLC44A1):c.966C>T (p.His322=)	SLC44A1	Single nucleotide variant (synonymous variant)	SLC44A1-related disorder	GBenign
Select item 3039509	NM_080546.5(SLC44A1):c.330A>G (p.Val110=)	SLC44A1	Single nucleotide variant (synonymous variant)	SLC44A1-related disorder	GLikely benign
Select item 3037620	NM_080546.5(SLC44A1):c.1554C>T (p.Ala518=)	SLC44A1	Single nucleotide variant (synonymous variant)	SLC44A1-related disorder	GLikely benign
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2659360	NM_080546.5(SLC44A1):c.498G>A (p.Ala166=)	SLC44A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659359	NM_080546.5(SLC44A1):c.21C>T (p.Ala7=)	SLC44A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602825	NM_080546.5(SLC44A1):c.1720A>G (p.Ile574Val)	SLC44A1 (I574V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579281	GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	ABCA1, ACTL7A +109 more	Copy number loss	Weiss-kruszka syndrome	GPathogenic
Select item 2557145	NM_080546.5(SLC44A1):c.628A>G (p.Thr210Ala)	SLC44A1 (T210A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550083	NM_080546.5(SLC44A1):c.1223C>T (p.Ala408Val)	SLC44A1 (A408V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514284	NM_080546.5(SLC44A1):c.709T>A (p.Ser237Thr)	SLC44A1 (S237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492385	NM_080546.5(SLC44A1):c.223A>G (p.Lys75Glu)	SLC44A1 (K75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487582	NM_080546.5(SLC44A1):c.137G>A (p.Cys46Tyr)	SLC44A1 (C46Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472968	NM_080546.5(SLC44A1):c.23C>T (p.Ser8Phe)	SLC44A1 (S8F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470693	NM_080546.5(SLC44A1):c.1591A>G (p.Thr531Ala)	SLC44A1 (T531A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464421	NM_080546.5(SLC44A1):c.1805C>G (p.Ala602Gly)	SLC44A1 (A602G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456437	NM_080546.5(SLC44A1):c.1363A>C (p.Ile455Leu)	SLC44A1 (I455L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423632	NC_000009.11:g.(?_107546596)_(108536361_?)dup	ABCA1, FKTN +4 more	Duplication	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 2362370	NM_080546.5(SLC44A1):c.70C>T (p.Arg24Cys)	LOC126860714, SLC44A1 (R24C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357304	NM_080546.5(SLC44A1):c.1306A>G (p.Ile436Val)	SLC44A1 (I436V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355832	NM_080546.5(SLC44A1):c.1082C>G (p.Thr361Ser)	SLC44A1 (T361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344878	NM_080546.5(SLC44A1):c.22T>A (p.Ser8Thr)	SLC44A1 (S8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339512	NM_080546.5(SLC44A1):c.397G>A (p.Glu133Lys)	SLC44A1 (E133K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334499	NM_080546.5(SLC44A1):c.1769A>T (p.Tyr590Phe)	SLC44A1 (Y590F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313735	NM_080546.5(SLC44A1):c.286G>A (p.Asp96Asn)	SLC44A1 (D96N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306975	NM_080546.5(SLC44A1):c.1182G>C (p.Trp394Cys)	SLC44A1 (W394C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290499	NM_080546.5(SLC44A1):c.1166T>A (p.Val389Glu)	SLC44A1 (V389E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281347	NM_080546.5(SLC44A1):c.58C>T (p.Pro20Ser)	LOC126860714, SLC44A1 (P20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271472	NM_080546.5(SLC44A1):c.1429T>C (p.Cys477Arg)	SLC44A1 (C477R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270112	NM_080546.5(SLC44A1):c.163G>A (p.Ala55Thr)	SLC44A1 (A55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1705625	NM_080546.5(SLC44A1):c.588del (p.Ser196fs)	SLC44A1 (S196fs)	Deletion (frameshift variant)	Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
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)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1341248	GRCh37/hg19 9q31.1-31.2(chr9:102858276-110624997)x3	ABCA1, ALDOB +34 more	Copy number gain	not provided	GUncertain significance
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 870504	NM_080546.5:c.126+5161_270-2343del	SLC44A1	Deletion	Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline	GPathogenic
Select item 870503	NM_080546.5(SLC44A1):c.377_380del (p.Ser126fs)	SLC44A1 (S126fs)	Deletion (frameshift variant)	Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline	GPathogenic
Select item 870502	NM_080546.5(SLC44A1):c.1549del (p.Asp517fs)	SLC44A1 (D517fs)	Deletion (frameshift variant)	Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline	GPathogenic
Select item 848628	NM_080546.5(SLC44A1):c.1053C>G (p.Tyr351Ter)	SLC44A1 (Y351*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 804415	NM_080546.5(SLC44A1):c.1009C>T (p.Gln337Ter)	SLC44A1 (Q337*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 563674	GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1	TXN, FKTN +44 more	Copy number loss	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 394229	GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1	ABCA1, ABITRAM +48 more	Copy number loss	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 202237	GRCh37/hg19 9q31.1(chr9:107972883-108105377)x3	SLC44A1	Copy number gain	See cases	GUncertain significance
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	LOC130001537, LOC130001538 +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 155197	GRCh38/hg38 9q31.1-31.2(chr9:104036284-105935181)x3	ABCA1, CT70 +58 more	Copy number gain	See cases	GUncertain significance
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 152170	GRCh38/hg38 9q31.1-31.2(chr9:104810184-107473921)x3	ABCA1, CT70 +56 more	Copy number gain	See cases	GUncertain significance
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 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 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 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	LOC114827838, LOC116186936 +3785 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	LOC124252641, LOC124252642 +3785 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

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Links from Gene

Items: 91