SLC5A9[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
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 2278695	NM_001011547.3(SLC5A9):c.49G>T (p.Val17Phe)	SLC5A9 (V17F)	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 3165292	NM_001011547.3(SLC5A9):c.103G>A (p.Ala35Thr)	SLC5A9 (A35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320083	NM_001011547.3(SLC5A9):c.160T>C (p.Trp54Arg)	SLC5A9 (W54R)	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 3165299	NM_001011547.3(SLC5A9):c.193G>A (p.Gly65Ser)	SLC5A9 (G65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320074	NM_001011547.3(SLC5A9):c.236T>C (p.Ile79Thr)	SLC5A9 (I79T)	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 2226290	NM_001011547.3(SLC5A9):c.277T>C (p.Phe93Leu)	SLC5A9 (F93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1236890	NM_001011547.3(SLC5A9):c.307G>A (p.Gly103Arg)	SLC5A9 (G103R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3320080	NM_001011547.3(SLC5A9):c.316G>C (p.Ala106Pro)	SLC5A9 (A106P)	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 497035	NM_001011547.3(SLC5A9):c.339+1G>A	SLC5A9	Single nucleotide variant (splice donor variant)	not provided	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 3320078	NM_001011547.3(SLC5A9):c.340-162G>A	SLC5A9 (G124R)	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 3320076	NM_001011547.3(SLC5A9):c.340-123T>C	SLC5A9 (S137P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 3320084	NM_001011547.3(SLC5A9):c.555C>A (p.Asn185Lys)	SLC5A9 (N210K +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 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 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 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 2690031	NM_001011547.3(SLC5A9):c.710G>A (p.Trp237Ter)	SLC5A9 (W237* +1 more)	Single nucleotide variant (nonsense)	not provided	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 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 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 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 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 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 3320077	NM_001011547.3(SLC5A9):c.820G>A (p.Val274Met)	SLC5A9 (V274M +1 more)	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 3055744	NM_001011547.3(SLC5A9):c.825C>T (p.Ser275=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GBenign
Select item 3320075	NM_001011547.3(SLC5A9):c.826G>A (p.Gly276Arg)	SLC5A9 (G301R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056846	NM_001011547.3(SLC5A9):c.855C>T (p.Phe285=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GBenign
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 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 3037890	NM_001011547.3(SLC5A9):c.921G>A (p.Ser307=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GBenign
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 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 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 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 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 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 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 3320079	NM_001011547.3(SLC5A9):c.1085G>C (p.Arg362Pro)	SLC5A9 (R387P +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 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 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 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 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 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 3320070	NM_001011547.3(SLC5A9):c.1372G>A (p.Asp458Asn)	SLC5A9 (D458N +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 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 3320081	NM_001011547.3(SLC5A9):c.1508G>A (p.Arg503His)	SLC5A9 (R503H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3320082	NM_001011547.3(SLC5A9):c.1595A>G (p.Tyr532Cys)	SLC5A9 (Y532C +1 more)	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 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 3034940	NM_001011547.3(SLC5A9):c.1686C>A (p.Arg562=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GLikely benign
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 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 3049807	NM_001011547.3(SLC5A9):c.1767G>A (p.Arg589=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GLikely benign
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 3060378	NM_001011547.3(SLC5A9):c.1777G>T (p.Glu593Ter)	SLC5A9 (E593* +1 more)	Single nucleotide variant (nonsense)	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 3059831	NM_001011547.3(SLC5A9):c.1827G>A (p.Glu609=)	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 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 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 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 3056161	NM_001011547.3(SLC5A9):c.2037T>C (p.Tyr679=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GBenign
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 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
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 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	TXNDC12, AGBL4 +28 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	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

Search results

Items: 96