ClinVar for Gene (Select 6524) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3165238	NM_003041.4(SLC5A2):c.982A>G (p.Met328Val)	SLC5A2 (M328V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165237	NM_003041.4(SLC5A2):c.697T>C (p.Tyr233His)	SLC5A2 (Y233H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165236	NM_003041.4(SLC5A2):c.619G>T (p.Val207Phe)	SLC5A2 (V207F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165235	NM_003041.4(SLC5A2):c.430G>A (p.Val144Met)	SLC5A2 (V144M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165234	NM_003041.4(SLC5A2):c.2004G>C (p.Trp668Cys)	RUSF1, SLC5A2 (W668C)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3165233	NM_003041.4(SLC5A2):c.1915C>T (p.Arg639Trp)	RUSF1, SLC5A2 (R639W)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3165232	NM_003041.4(SLC5A2):c.1646C>T (p.Ala549Val)	SLC5A2 (A549V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165231	NM_003041.4(SLC5A2):c.1643C>A (p.Thr548Asn)	SLC5A2 (T548N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165230	NM_003041.4(SLC5A2):c.1592T>C (p.Ile531Thr)	SLC5A2 (I531T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165229	NM_003041.4(SLC5A2):c.1173G>A (p.Met391Ile)	SLC5A2 (M391I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165228	NM_003041.4(SLC5A2):c.1172T>C (p.Met391Thr)	SLC5A2 (M391T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165227	NM_003041.4(SLC5A2):c.1153G>C (p.Val385Leu)	SLC5A2 (V385L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165226	NM_003041.4(SLC5A2):c.1133T>C (p.Leu378Pro)	SLC5A2 (L378P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067930	NM_003041.4(SLC5A2):c.305C>T (p.Ala102Val)	SLC5A2 (A102V)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 3066386	NM_003041.4(SLC5A2):c.1499_1506del (p.Leu500fs)	SLC5A2 (L500fs)	Deletion (frameshift variant +1 more)	Familial renal glucosuria	GPathogenic
Select item 3066199	NM_003041.4(SLC5A2):c.1978A>G (p.Met660Val)	RUSF1, SLC5A2 (M660V)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 3061899	NM_003041.4(SLC5A2):c.197C>T (p.Pro66Leu)	SLC5A2 (P66L)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 3061886	NM_003041.4(SLC5A2):c.959T>C (p.Leu320Pro)	SLC5A2 (L320P)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 3058571	NM_003041.4(SLC5A2):c.1022-4G>A	SLC5A2	Single nucleotide variant (intron variant)	SLC5A2-related condition	GLikely benign
Select item 3052186	NM_003041.4(SLC5A2):c.1130-4G>A	SLC5A2	Single nucleotide variant (intron variant)	SLC5A2-related condition	GLikely benign
Select item 3051410	NM_003041.4(SLC5A2):c.306G>A (p.Ala102=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	SLC5A2-related condition	GLikely benign
Select item 3051298	NM_003041.4(SLC5A2):c.843C>A (p.Leu281=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	SLC5A2-related condition	GLikely benign
Select item 3049503	NM_003041.4(SLC5A2):c.1409T>A (p.Val470Asp)	SLC5A2 (V470D)	Single nucleotide variant (missense variant)	SLC5A2-related condition	GUncertain significance
Select item 3047822	NM_003041.4(SLC5A2):c.127-18C>G	SLC5A2	Single nucleotide variant (intron variant)	SLC5A2-related condition	GLikely benign
Select item 3040656	NM_003041.4(SLC5A2):c.1678G>T (p.Val560Phe)	RUSF1, SLC5A2 (V560F)	Single nucleotide variant (3 prime UTR variant +2 more)	SLC5A2-related condition	GUncertain significance
Select item 3036114	NM_003041.4(SLC5A2):c.178C>T (p.Arg60Cys)	SLC5A2 (R60C)	Single nucleotide variant (missense variant +1 more)	SLC5A2-related condition	GUncertain significance
Select item 3032203	NM_003041.4(SLC5A2):c.885+7G>T	LOC130058907, SLC5A2	Single nucleotide variant (intron variant)	SLC5A2-related condition	GLikely benign
Select item 3030697	NM_003041.4(SLC5A2):c.789C>T (p.Tyr263=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	SLC5A2-related condition	GLikely benign
Select item 3026718	NM_003041.4(SLC5A2):c.1606T>C (p.Cys536Arg)	SLC5A2 (C536R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662939	NM_003041.4(SLC5A2):c.503A>G (p.Gln168Arg)	SLC5A2 (Q168R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2646483	NM_003041.4(SLC5A2):c.1356C>G (p.Leu452=)	SLC5A2	Single nucleotide variant (synonymous variant)	SLC5A2-related condition +1 more	GLikely benign
Select item 2636558	NM_003041.4(SLC5A2):c.1407del (p.Val470fs)	SLC5A2 (V470fs)	Deletion (frameshift variant)	SLC5A2-related condition	GLikely pathogenic
Select item 2635987	NM_003041.4(SLC5A2):c.506del (p.Ala169fs)	SLC5A2 (A169fs)	Deletion (frameshift variant +1 more)	SLC5A2-related condition	GLikely pathogenic
Select item 2633899	NM_003041.4(SLC5A2):c.872G>A (p.Trp291Ter)	LOC130058907, SLC5A2 (W291*)	Single nucleotide variant (nonsense +1 more)	SLC5A2-related condition	GLikely pathogenic
Select item 2633293	NM_003041.4(SLC5A2):c.163T>C (p.Tyr55His)	SLC5A2 (Y55H)	Single nucleotide variant (non-coding transcript variant +1 more)	SLC5A2-related condition	GUncertain significance
Select item 2632103	NM_003041.4(SLC5A2):c.1593del (p.Ile531fs)	SLC5A2 (I531fs)	Deletion (frameshift variant +1 more)	SLC5A2-related condition	GLikely pathogenic
Select item 2619308	NM_003041.4(SLC5A2):c.403G>A (p.Gly135Ser)	SLC5A2 (G135S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610678	NM_003041.4(SLC5A2):c.1594G>C (p.Val532Leu)	SLC5A2 (V532L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603288	NM_003041.4(SLC5A2):c.1042C>A (p.Pro348Thr)	SLC5A2 (P348T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585535	NM_003041.4(SLC5A2):c.1532G>C (p.Cys511Ser)	SLC5A2 (C511S)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 2584610	NM_003041.4(SLC5A2):c.350A>G (p.Tyr117Cys)	SLC5A2 (Y117C)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 2584562	NM_003041.4(SLC5A2):c.1792+2T>C	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 2582381	NM_003041.4(SLC5A2):c.776G>A (p.Arg259Gln)	SLC5A2 (R259Q)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 2581055	NM_003041.4(SLC5A2):c.1616T>G (p.Leu539Arg)	SLC5A2 (L539R)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 2579624	NM_003041.4(SLC5A2):c.190T>G (p.Trp64Gly)	SLC5A2 (W64G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2577432	NM_003041.4(SLC5A2):c.1555_1576del (p.Ala519fs)	SLC5A2 (A519fs)	Deletion (frameshift variant +1 more)	SLC5A2-related condition	GLikely pathogenic
Select item 2577426	NM_003041.4(SLC5A2):c.469-2A>T	SLC5A2	Single nucleotide variant (splice acceptor variant)	Familial renal glucosuria	GPathogenic
Select item 2565724	NM_003041.4(SLC5A2):c.758G>A (p.Ser253Asn)	SLC5A2 (S253N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514529	NM_003041.4(SLC5A2):c.394C>A (p.Arg132Ser)	SLC5A2 (R132S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2502266	NM_003041.4(SLC5A2):c.1036G>A (p.Val346Met)	SLC5A2 (V346M)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 2502163	NM_003041.4(SLC5A2):c.655+5G>A	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria	GUncertain significance
Select item 2502154	NM_003041.4(SLC5A2):c.226A>G (p.Ile76Val)	SLC5A2 (I76V)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 2496484	NM_003041.4(SLC5A2):c.1729G>A (p.Glu577Lys)	RUSF1, SLC5A2 (E577K)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2487516	NM_003041.4(SLC5A2):c.254C>A (p.Ala85Glu)	SLC5A2 (A85E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485677	NM_003041.4(SLC5A2):c.477G>A (p.Met159Ile)	SLC5A2 (M159I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474836	NM_003041.4(SLC5A2):c.1514C>T (p.Ser505Phe)	SLC5A2 (S505F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2436063	NM_003041.4(SLC5A2):c.1373C>T (p.Ala458Val)	SLC5A2 (A458V)	Single nucleotide variant (missense variant)	Familial renal glucosuria	GUncertain significance
Select item 2433567	NM_003041.4(SLC5A2):c.1153_1162del (p.Val385fs)	SLC5A2 (V385fs)	Deletion (frameshift variant)	Familial renal glucosuria	GLikely pathogenic
Select item 2395417	NM_003041.4(SLC5A2):c.767A>G (p.Tyr256Cys)	SLC5A2 (Y256C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393140	NM_003041.4(SLC5A2):c.406C>T (p.Arg136Cys)	SLC5A2 (R136C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367490	NM_003041.4(SLC5A2):c.1399G>A (p.Val467Met)	SLC5A2 (V467M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364775	NM_003041.4(SLC5A2):c.52G>C (p.Ala18Pro)	SLC5A2 (A18P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326549	NM_003041.4(SLC5A2):c.599C>T (p.Thr200Met)	SLC5A2 (T200M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312480	NM_003041.4(SLC5A2):c.1353G>C (p.Gln451His)	SLC5A2 (Q451H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308311	NM_003041.4(SLC5A2):c.1496G>C (p.Arg499Pro)	SLC5A2 (R499P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305059	NM_003041.4(SLC5A2):c.602A>G (p.Asp201Gly)	SLC5A2 (D201G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297229	NM_003041.4(SLC5A2):c.1288G>A (p.Val430Met)	SLC5A2 (V430M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272170	NM_003041.4(SLC5A2):c.407G>A (p.Arg136His)	SLC5A2 (R136H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2271601	NM_003041.4(SLC5A2):c.1876C>T (p.Pro626Ser)	RUSF1, SLC5A2 (P626S)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2264460	NM_003041.4(SLC5A2):c.4G>A (p.Glu2Lys)	SLC5A2 (E2K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264334	NM_003041.4(SLC5A2):c.1816C>T (p.Leu606Phe)	RUSF1, SLC5A2 (L606F)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2245422	NM_003041.4(SLC5A2):c.1742C>T (p.Ser581Phe)	RUSF1, SLC5A2 (S581F)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2208322	NM_003041.4(SLC5A2):c.1415T>C (p.Val472Ala)	SLC5A2 (V472A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1803924	NM_003041.4(SLC5A2):c.1690C>T (p.Arg564Trp)	RUSF1, SLC5A2 (R564W)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 1803821	NM_003041.4(SLC5A2):c.673G>A (p.Gly225Arg)	SLC5A2 (G225R)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria +1 more	GUncertain significance
Select item 1705713	NM_003041.4(SLC5A2):c.683G>T (p.Gly228Val)	SLC5A2 (G228V)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 1675620	NM_003041.4(SLC5A2):c.1386C>G (p.Tyr462Ter)	SLC5A2 (Y462*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1334520	NM_003041.4(SLC5A2):c.968C>A (p.Thr323Lys)	SLC5A2 (T323K)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria +1 more	GUncertain significance
Select item 1326666	NM_003041.4(SLC5A2):c.295G>C (p.Glu99Gln)	SLC5A2 (E99Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1325096	NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val)	SLC5A2 (A344V)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GConflicting classifications of pathogenicity
Select item 1297591	NM_003041.4(SLC5A2):c.1280+1G>A	SLC5A2	Single nucleotide variant (splice donor variant)	Familial renal glucosuria	GLikely pathogenic
Select item 1285213	NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp)	SLC5A2 (R368W)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GLikely pathogenic
Select item 1241803	NM_003041.4(SLC5A2):c.127-323G>C	SLC5A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232557	NM_003041.4(SLC5A2):c.574+212A>T	SLC5A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1003213	NM_003041.4(SLC5A2):c.1559T>C (p.Phe520Ser)	SLC5A2 (F520S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 992906	NM_003041.4(SLC5A2):c.1388T>C (p.Leu463Pro)	SLC5A2 (L463P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 992433	NM_003041.4(SLC5A2):c.1652T>C (p.Ile551Thr)	SLC5A2 (I551T)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 992419	NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His)	SLC5A2 (R336H)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 992418	NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu)	SLC5A2 (I151L)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 992414	NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys)	SLC5A2 (E421K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 992379	NM_003041.4(SLC5A2):c.371C>T (p.Thr124Met)	SLC5A2 (T124M)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 976092	NM_003041.4(SLC5A2):c.1274T>A (p.Val425Glu)	SLC5A2 (V425E)	Single nucleotide variant (missense variant)	Familial renal glucosuria	GUncertain significance
Select item 887973	NM_003041.4(SLC5A2):c.1845T>C (p.Cys615=)	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 887972	NM_003041.4(SLC5A2):c.1807G>A (p.Ala603Thr)	RUSF1, SLC5A2 (A603T)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 887971	NM_003041.4(SLC5A2):c.1806G>C (p.Pro602=)	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 887919	NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala)	SLC5A2 (V385A)	Single nucleotide variant (missense variant)	Familial renal glucosuria	GUncertain significance
Select item 887918	NM_003041.4(SLC5A2):c.1129+6G>A	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria	GUncertain significance
Select item 887917	NM_003041.4(SLC5A2):c.1021+14C>T	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria	GUncertain significance
Select item 887916	NM_003041.4(SLC5A2):c.1008C>T (p.Arg336=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	Familial renal glucosuria	GUncertain significance

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