ClinVar for Gene (Select 6508) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3165095	NM_005070.4(SLC4A3):c.916C>T (p.Arg306Cys)	SLC4A3 (R333C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165094	NM_005070.4(SLC4A3):c.872C>T (p.Thr291Met)	SLC4A3 (T318M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165093	NM_005070.4(SLC4A3):c.73C>A (p.Pro25Thr)	SLC4A3 (P25T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165092	NM_005070.4(SLC4A3):c.612-26C>T	SLC4A3 (P223S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3165091	NM_005070.4(SLC4A3):c.464C>T (p.Pro155Leu)	SLC4A3 (P155L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165090	NM_005070.4(SLC4A3):c.464C>G (p.Pro155Arg)	SLC4A3 (P155R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165089	NM_005070.4(SLC4A3):c.388G>C (p.Gly130Arg)	SLC4A3 (G130R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165088	NM_005070.4(SLC4A3):c.3643C>G (p.Pro1215Ala)	SLC4A3 (P1242A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165087	NM_005070.4(SLC4A3):c.3527C>T (p.Ala1176Val)	SLC4A3 (A1203V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165086	NM_005070.4(SLC4A3):c.3463A>G (p.Met1155Val)	SLC4A3 (M1155V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165085	NM_005070.4(SLC4A3):c.3448G>T (p.Val1150Leu)	SLC4A3 (V1177L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165084	NM_005070.4(SLC4A3):c.3383C>G (p.Ser1128Cys)	SLC4A3 (S1128C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165083	NM_005070.4(SLC4A3):c.301A>C (p.Thr101Pro)	SLC4A3 (T101P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165082	NM_005070.4(SLC4A3):c.28G>A (p.Gly10Arg)	SLC4A3 (G10R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165081	NM_005070.4(SLC4A3):c.2577G>C (p.Glu859Asp)	SLC4A3 (E886D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165080	NM_005070.4(SLC4A3):c.224G>A (p.Arg75Gln)	SLC4A3 (R75Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165079	NM_005070.4(SLC4A3):c.2048G>A (p.Gly683Glu)	SLC4A3 (G710E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165078	NM_005070.4(SLC4A3):c.1960G>A (p.Ala654Thr)	SLC4A3 (A654T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165077	NM_005070.4(SLC4A3):c.1600G>A (p.Val534Met)	SLC4A3 (V534M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165075	NM_005070.4(SLC4A3):c.1316G>A (p.Arg439Gln)	SLC4A3 (R466Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165074	NM_005070.4(SLC4A3):c.1094C>T (p.Ser365Leu)	SLC4A3 (S365L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3047547	NM_005070.4(SLC4A3):c.1610A>G (p.Asn537Ser)	SLC4A3 (N537S +1 more)	Single nucleotide variant (missense variant +1 more)	SLC4A3-related disorder	GLikely benign
Select item 3044649	NM_005070.4(SLC4A3):c.1990G>A (p.Gly664Arg)	SLC4A3 (G664R +1 more)	Single nucleotide variant (missense variant +1 more)	SLC4A3-related disorder	GLikely benign
Select item 3042967	NM_005070.4(SLC4A3):c.310C>T (p.Arg104Trp)	SLC4A3 (R104W)	Single nucleotide variant (missense variant +1 more)	SLC4A3-related disorder	GLikely benign
Select item 3041174	NM_005070.4(SLC4A3):c.2232C>T (p.Ile744=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	SLC4A3-related disorder	GLikely benign
Select item 3037875	NM_005070.4(SLC4A3):c.2781C>A (p.Ile927=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	SLC4A3-related disorder	GLikely benign
Select item 2685878	GRCh37/hg19 2q35(chr2:220368252-221475943)x3	ASIC4, CHPF +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685877	GRCh37/hg19 2q35(chr2:220169575-220625221)x3	ASIC4, CHPF +11 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2665088	NM_005070.4(SLC4A3):c.1456A>G (p.Lys486Glu)	SLC4A3 (K486E +1 more)	Single nucleotide variant (missense variant +1 more)	Short QT syndrome 7	GUncertain significance
Select item 2651939	NM_005070.4(SLC4A3):c.1839G>A (p.Pro613=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2651938	NM_005070.4(SLC4A3):c.360C>T (p.Ser120=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2651937	NM_005070.4(SLC4A3):c.218-5C>T	SLC4A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2622075	NM_005070.4(SLC4A3):c.3203C>T (p.Ala1068Val)	SLC4A3 (A1095V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612671	NM_005070.4(SLC4A3):c.466C>A (p.Pro156Thr)	SLC4A3 (P156T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607052	NM_005070.4(SLC4A3):c.2033C>T (p.Thr678Met)	SLC4A3 (T678M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603455	NM_005070.4(SLC4A3):c.3537C>T (p.Leu1179=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2588505	NM_005070.4(SLC4A3):c.394G>A (p.Ala132Thr)	SLC4A3 (A132T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2555923	NM_005070.4(SLC4A3):c.2522A>G (p.Tyr841Cys)	SLC4A3 (Y868C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549992	NM_005070.4(SLC4A3):c.2242G>A (p.Ala748Thr)	SLC4A3 (A748T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544940	NM_005070.4(SLC4A3):c.569C>T (p.Ser190Leu)	SLC4A3 (S190L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519195	NM_005070.4(SLC4A3):c.262C>T (p.Arg88Cys)	SLC4A3 (R88C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517132	NM_005070.4(SLC4A3):c.2410G>A (p.Val804Ile)	SLC4A3 (V804I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494990	NM_005070.4(SLC4A3):c.3460C>T (p.Arg1154Trp)	SLC4A3 (R1154W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490620	NM_005070.4(SLC4A3):c.612-22G>A	SLC4A3 (R224K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484695	NM_005070.4(SLC4A3):c.23C>T (p.Pro8Leu)	SLC4A3 (P8L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464355	NM_005070.4(SLC4A3):c.2641G>A (p.Glu881Lys)	SLC4A3 (E908K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459009	NM_005070.4(SLC4A3):c.2039C>T (p.Ser680Leu)	SLC4A3 (S680L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454800	NM_005070.4(SLC4A3):c.672C>G (p.Ser224Arg)	SLC4A3 (S224R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2443882	NM_005070.4(SLC4A3):c.1028G>A (p.Arg343His)	SLC4A3 (R343H)	Single nucleotide variant (missense variant +1 more)	Short QT syndrome 7	GPathogenic
Select item 2411117	NM_005070.4(SLC4A3):c.1594G>A (p.Ala532Thr)	SLC4A3 (A532T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409486	NM_005070.4(SLC4A3):c.619A>C (p.Ser207Arg)	SLC4A3 (S234R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408253	NM_005070.4(SLC4A3):c.3311G>A (p.Arg1104Gln)	SLC4A3 (R1131Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407607	NM_005070.4(SLC4A3):c.733G>C (p.Gly245Arg)	SLC4A3 (G272R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398062	NM_005070.4(SLC4A3):c.612-44G>A	SLC4A3 (D217N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394013	NM_005070.4(SLC4A3):c.2935C>T (p.Arg979Cys)	SLC4A3 (R1006C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386810	NM_005070.4(SLC4A3):c.646G>A (p.Ala216Thr)	SLC4A3 (A216T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378223	NM_005070.4(SLC4A3):c.917G>A (p.Arg306His)	SLC4A3 (R306H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357001	NM_005070.4(SLC4A3):c.74C>G (p.Pro25Arg)	SLC4A3 (P25R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354653	NM_005070.4(SLC4A3):c.1933G>A (p.Glu645Lys)	SLC4A3 (E645K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2352606	NM_005070.4(SLC4A3):c.1807G>A (p.Glu603Lys)	SLC4A3 (E603K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346570	NM_005070.4(SLC4A3):c.2003C>T (p.Ala668Val)	SLC4A3 (A668V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340462	NM_005070.4(SLC4A3):c.3269G>C (p.Ser1090Thr)	SLC4A3 (S1090T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334734	NM_005070.4(SLC4A3):c.541A>G (p.Arg181Gly)	SLC4A3 (R181G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334470	NM_005070.4(SLC4A3):c.880G>A (p.Gly294Arg)	SLC4A3 (G294R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311925	NM_005070.4(SLC4A3):c.950G>C (p.Arg317Thr)	SLC4A3 (R344T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308928	NM_005070.4(SLC4A3):c.1684A>G (p.Ser562Gly)	SLC4A3 (S589G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288188	NM_005070.4(SLC4A3):c.1106G>A (p.Arg369His)	SLC4A3 (R369H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265462	NM_005070.4(SLC4A3):c.2680C>G (p.Leu894Val)	SLC4A3 (L894V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265150	NM_005070.4(SLC4A3):c.1135G>A (p.Ala379Thr)	SLC4A3 (A379T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263468	NM_005070.4(SLC4A3):c.2102G>A (p.Arg701Gln)	SLC4A3 (R701Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259640	NM_005070.4(SLC4A3):c.2330C>G (p.Ala777Gly)	SLC4A3 (A804G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258585	NM_005070.4(SLC4A3):c.469C>T (p.His157Tyr)	SLC4A3 (H157Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242807	NM_005070.4(SLC4A3):c.352C>T (p.Pro118Ser)	SLC4A3 (P118S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239197	NM_005070.4(SLC4A3):c.200G>A (p.Ser67Asn)	SLC4A3 (S67N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235328	NM_005070.4(SLC4A3):c.3224T>G (p.Ile1075Ser)	SLC4A3 (I1102S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215865	NM_005070.4(SLC4A3):c.1288G>A (p.Asp430Asn)	SLC4A3 (D430N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210546	NM_005070.4(SLC4A3):c.1343C>T (p.Ser448Leu)	SLC4A3 (S475L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203804	NM_005070.4(SLC4A3):c.1781G>A (p.Arg594Gln)	SLC4A3 (R594Q +1 more)	Single nucleotide variant (missense variant +1 more)	Short QT syndrome 7 +1 more	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1286245	NM_005070.4(SLC4A3):c.1461+171G>C	SLC4A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283149	NM_005070.4(SLC4A3):c.2536-260T>C	SLC4A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279077	NM_005070.4(SLC4A3):c.811+93A>C	SLC4A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260183	NM_005070.4(SLC4A3):c.1973-74C>G	SLC4A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250364	NM_005070.4(SLC4A3):c.3448-90C>T	SLC4A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241006	NM_005070.4(SLC4A3):c.3391T>C (p.Leu1131=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1220872	NM_005070.4(SLC4A3):c.2192-194G>C	SLC4A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180532	GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1	PTPRN, RESP18 +36 more	Copy number loss	not provided	GPathogenic
Select item 1175631	NM_005070.4(SLC4A3):c.*72G>A	SLC4A3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 775828	NM_005070.4(SLC4A3):c.2640C>T (p.Thr880=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 775827	NM_005070.4(SLC4A3):c.2223C>T (p.Ser741=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 775826	NM_005070.4(SLC4A3):c.161C>T (p.Pro54Leu)	SLC4A3 (P54L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 774415	NM_005070.4(SLC4A3):c.3498C>T (p.Ile1166=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 773434	NM_005070.4(SLC4A3):c.1248C>T (p.Ser416=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	SLC4A3-related disorder +1 more	GBenign/Likely benign

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