ClinVar for Gene (Select 200010) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3165308	NM_001011547.3(SLC5A9):c.910C>T (p.Arg304Trp)	SLC5A9 (R304W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165307	NM_001011547.3(SLC5A9):c.812G>A (p.Arg271Gln)	SLC5A9 (R296Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165306	NM_001011547.3(SLC5A9):c.728A>T (p.Gln243Leu)	SLC5A9 (Q268L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165305	NM_001011547.3(SLC5A9):c.61A>G (p.Thr21Ala)	SLC5A9 (T21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165304	NM_001011547.3(SLC5A9):c.503C>T (p.Ser168Leu)	SLC5A9 (S193L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165303	NM_001011547.3(SLC5A9):c.466G>T (p.Val156Phe)	SLC5A9 (V156F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165302	NM_001011547.3(SLC5A9):c.331G>A (p.Glu111Lys)	SLC5A9 (E111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165300	NM_001011547.3(SLC5A9):c.2042C>T (p.Ala681Val)	SLC5A9 (A706V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165299	NM_001011547.3(SLC5A9):c.193G>A (p.Gly65Ser)	SLC5A9 (G65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165298	NM_001011547.3(SLC5A9):c.1736C>G (p.Ala579Gly)	SLC5A9 (A579G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165297	NM_001011547.3(SLC5A9):c.173G>A (p.Arg58His)	SLC5A9 (R58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165296	NM_001011547.3(SLC5A9):c.1625C>T (p.Ala542Val)	SLC5A9 (A567V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165294	NM_001011547.3(SLC5A9):c.1247G>A (p.Arg416His)	SLC5A9 (R441H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165293	NM_001011547.3(SLC5A9):c.1064G>A (p.Cys355Tyr)	SLC5A9 (C380Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165292	NM_001011547.3(SLC5A9):c.103G>A (p.Ala35Thr)	SLC5A9 (A35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165291	NM_001011547.3(SLC5A9):c.961G>T (p.Gly321Trp)	SLC5A9 (G321W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 3060810	NM_001011547.3(SLC5A9):c.1304T>G (p.Val435Gly)	SLC5A9 (V435G +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3060378	NM_001011547.3(SLC5A9):c.1777G>T (p.Glu593Ter)	SLC5A9 (E593* +1 more)	Single nucleotide variant (nonsense)	SLC5A9-related disorder	GBenign
Select item 3060286	NM_001011547.3(SLC5A9):c.454G>A (p.Val152Met)	SLC5A9 (V152M +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3060237	NM_001011547.3(SLC5A9):c.1799C>T (p.Ala600Val)	SLC5A9 (A600V +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3059966	NM_001011547.3(SLC5A9):c.807T>G (p.Ile269Met)	SLC5A9 (I269M +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3059831	NM_001011547.3(SLC5A9):c.1827G>A (p.Glu609=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GBenign
Select item 3057528	NM_001011547.3(SLC5A9):c.1535C>T (p.Ala512Val)	SLC5A9 (A512V +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GLikely benign
Select item 3056846	NM_001011547.3(SLC5A9):c.855C>T (p.Phe285=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GBenign
Select item 3056161	NM_001011547.3(SLC5A9):c.2037T>C (p.Tyr679=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GBenign
Select item 3055744	NM_001011547.3(SLC5A9):c.825C>T (p.Ser275=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GBenign
Select item 3055696	NM_001011547.3(SLC5A9):c.620T>C (p.Met207Thr)	SLC5A9 (M207T +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3055412	NM_001011547.3(SLC5A9):c.1931C>A (p.Ala644Glu)	SLC5A9 (A644E +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3053604	NM_001011547.3(SLC5A9):c.545T>C (p.Leu182Ser)	SLC5A9 (L182S +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3051718	NM_001011547.3(SLC5A9):c.1773C>T (p.Ala591=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GLikely benign
Select item 3050515	NM_001011547.3(SLC5A9):c.349C>T (p.Leu117=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GLikely benign
Select item 3049807	NM_001011547.3(SLC5A9):c.1767G>A (p.Arg589=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GLikely benign
Select item 3049347	NM_001011547.3(SLC5A9):c.1751C>T (p.Pro584Leu)	SLC5A9 (P584L +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GLikely benign
Select item 3047851	NM_001011547.3(SLC5A9):c.312C>G (p.Gly104=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GLikely benign
Select item 3043633	NM_001011547.3(SLC5A9):c.671C>T (p.Ala224Val)	SLC5A9 (A224V +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3041526	NM_001011547.3(SLC5A9):c.691+3A>G	SLC5A9	Single nucleotide variant (intron variant)	SLC5A9-related disorder	GLikely benign
Select item 3037890	NM_001011547.3(SLC5A9):c.921G>A (p.Ser307=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GBenign
Select item 3037694	NM_001011547.3(SLC5A9):c.1837+10G>A	SLC5A9	Single nucleotide variant (intron variant)	SLC5A9-related disorder	GLikely benign
Select item 3037507	NM_001011547.3(SLC5A9):c.370G>A (p.Val124Ile)	SLC5A9 (V124I +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3034940	NM_001011547.3(SLC5A9):c.1686C>A (p.Arg562=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GLikely benign
Select item 3034016	NM_001011547.3(SLC5A9):c.45C>T (p.Asp15=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GLikely benign
Select item 2690031	NM_001011547.3(SLC5A9):c.710G>A (p.Trp237Ter)	SLC5A9 (W237* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2619147	NM_001011547.3(SLC5A9):c.481C>G (p.Leu161Val)	SLC5A9 (L161V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599631	NM_001011547.3(SLC5A9):c.811C>T (p.Arg271Trp)	SLC5A9 (R271W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561168	NM_001011547.3(SLC5A9):c.1035C>G (p.Asp345Glu)	SLC5A9 (D345E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555790	NM_001011547.3(SLC5A9):c.1009A>C (p.Met337Leu)	SLC5A9 (M337L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535225	NM_001011547.3(SLC5A9):c.1048G>A (p.Val350Met)	SLC5A9 (V375M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533040	NM_001011547.3(SLC5A9):c.1336C>A (p.Pro446Thr)	SLC5A9 (P446T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517423	NM_001011547.3(SLC5A9):c.770C>T (p.Thr257Ile)	SLC5A9 (T282I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508766	NM_001011547.3(SLC5A9):c.703G>A (p.Val235Met)	SLC5A9 (V260M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492459	NM_001011547.3(SLC5A9):c.770C>A (p.Thr257Asn)	SLC5A9 (T257N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486566	NM_001011547.3(SLC5A9):c.1847G>T (p.Arg616Met)	SLC5A9 (R641M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476640	NM_001011547.3(SLC5A9):c.1333A>C (p.Ile445Leu)	SLC5A9 (I445L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396633	NM_001011547.3(SLC5A9):c.1246C>T (p.Arg416Cys)	SLC5A9 (R416C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394504	NM_001011547.3(SLC5A9):c.1433C>A (p.Ala478Asp)	SLC5A9 (A503D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391294	NM_001011547.3(SLC5A9):c.1627A>G (p.Ile543Val)	SLC5A9 (I543V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359365	NM_001011547.3(SLC5A9):c.485A>G (p.Tyr162Cys)	SLC5A9 (Y187C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355747	NM_001011547.3(SLC5A9):c.1559G>A (p.Arg520Gln)	SLC5A9 (R520Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353482	NM_001011547.3(SLC5A9):c.1111C>G (p.Pro371Ala)	SLC5A9 (P371A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351629	NM_001011547.3(SLC5A9):c.1210A>G (p.Ser404Gly)	SLC5A9 (S404G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350998	NM_001011547.3(SLC5A9):c.595G>A (p.Val199Ile)	SLC5A9 (V199I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349544	NM_001011547.3(SLC5A9):c.1480G>A (p.Val494Met)	SLC5A9 (V494M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342626	NM_001011547.3(SLC5A9):c.911G>A (p.Arg304Gln)	SLC5A9 (R304Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323394	NM_001011547.3(SLC5A9):c.1976G>A (p.Arg659Lys)	SLC5A9 (R684K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312100	NM_001011547.3(SLC5A9):c.994A>G (p.Ile332Val)	SLC5A9 (I357V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290915	NM_001011547.3(SLC5A9):c.339+164T>A	SLC5A9 (S119T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290375	NM_001011547.3(SLC5A9):c.340-141G>A	SLC5A9 (G131R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2278695	NM_001011547.3(SLC5A9):c.49G>T (p.Val17Phe)	SLC5A9 (V17F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251154	NM_001011547.3(SLC5A9):c.824G>T (p.Ser275Ile)	SLC5A9 (S275I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247503	NM_001011547.3(SLC5A9):c.260A>T (p.Asn87Ile)	SLC5A9 (N87I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246160	NM_001011547.3(SLC5A9):c.961G>A (p.Gly321Arg)	SLC5A9 (G321R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226290	NM_001011547.3(SLC5A9):c.277T>C (p.Phe93Leu)	SLC5A9 (F93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807943	GRCh37/hg19 1p33(chr1:48634963-48702484)x1	SLC5A9	Copy number loss	not provided	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340918	GRCh37/hg19 1p33(chr1:48634962-48697751)x1	SLC5A9	Copy number loss	not provided	GUncertain significance
Select item 1236890	NM_001011547.3(SLC5A9):c.307G>A (p.Gly103Arg)	SLC5A9 (G103R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 980381	GRCh37/hg19 1p33(chr1:48289410-49433953)x3	AGBL4, SLC5A9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	AGBL4, BEND5 +28 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 497035	NM_001011547.3(SLC5A9):c.339+1G>A	SLC5A9	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 84