ClinVar for MedGen (Select 757652) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376922	NM_003041.4(SLC5A2):c.1449+5G>C	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria	GUncertain significance
Select item 3256906	NM_003041.4(SLC5A2):c.400G>A (p.Gly134Ser)	SLC5A2 (G134S)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 3256905	NM_003041.4(SLC5A2):c.1830C>A (p.Cys610Ter)	RUSF1, SLC5A2 (C610*)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GLikely pathogenic
Select item 3256903	NM_003041.4(SLC5A2):c.1023C>G (p.Asp341Glu)	SLC5A2 (D341E)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 3256638	NM_003041.4(SLC5A2):c.434T>G (p.Leu145Arg)	SLC5A2 (L145R)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GLikely pathogenic
Select item 3256631	NM_003041.4(SLC5A2):c.1360G>C (p.Asp454His)	SLC5A2 (D454H)	Single nucleotide variant (missense variant)	Familial renal glucosuria +1 more	GUncertain significance
Select item 3256614	NM_003041.4(SLC5A2):c.1665+1del	SLC5A2	Deletion (splice donor variant)	Familial renal glucosuria	GPathogenic
Select item 3236792	NM_003041.4(SLC5A2):c.1163C>T (p.Ala388Val)	SLC5A2 (A388V)	Single nucleotide variant (missense variant)	Familial renal glucosuria	GUncertain significance
Select item 3236174	NM_003041.4(SLC5A2):c.910G>A (p.Gly304Arg)	SLC5A2 (G304R)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 3236083	NM_003041.4(SLC5A2):c.484G>A (p.Gly162Arg)	SLC5A2 (G162R)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GLikely pathogenic
Select item 3236035	NM_003041.4(SLC5A2):c.1376T>C (p.Val459Ala)	SLC5A2 (V459A)	Single nucleotide variant (missense variant)	Familial renal glucosuria	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 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 2577432	NM_003041.4(SLC5A2):c.1555_1576del (p.Ala519fs)	SLC5A2 (A519fs)	Deletion (frameshift variant +1 more)	SLC5A2-related disorder +1 more	GPathogenic/Likely 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 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 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 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 1334520	NM_003041.4(SLC5A2):c.968C>A (p.Thr323Lys)	SLC5A2 (T323K)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria +2 more	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 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)	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)	SLC5A2, RUSF1 (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
Select item 887915	NM_003041.4(SLC5A2):c.886G>C (p.Val296Leu)	SLC5A2 (V296L)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 886718	NM_003041.4(SLC5A2):c.1791T>C (p.Asn597=)	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 886717	NM_003041.4(SLC5A2):c.1665+13G>A	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria +1 more	GBenign/Likely benign
Select item 886716	NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr)	SLC5A2 (A549T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 886663	NM_003041.4(SLC5A2):c.152C>T (p.Thr51Ile)	SLC5A2 (T51I)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 886662	NM_003041.4(SLC5A2):c.19G>A (p.Ala7Thr)	SLC5A2 (A7T)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 885765	NM_003041.4(SLC5A2):c.*160C>T	SLC5A2, RUSF1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 885764	NM_003041.4(SLC5A2):c.*70C>G	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 885763	NM_003041.4(SLC5A2):c.*48G>A	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial renal glucosuria	GLikely benign
Select item 885710	NM_003041.4(SLC5A2):c.1449+13C>A	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria	GUncertain significance
Select item 885709	NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu)	SLC5A2 (P478L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 884837	NM_003041.4(SLC5A2):c.*33C>G	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 884836	NM_003041.4(SLC5A2):c.2013T>C (p.Tyr671=)	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 884835	NM_003041.4(SLC5A2):c.2012A>T (p.Tyr671Phe)	RUSF1, SLC5A2 (Y671F)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria +1 more	GUncertain significance
Select item 884769	NM_003041.4(SLC5A2):c.1417C>A (p.Leu473Met)	SLC5A2 (L473M)	Single nucleotide variant (missense variant)	Familial renal glucosuria	GUncertain significance
Select item 884768	NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala)	SLC5A2 (V470A)	Single nucleotide variant (missense variant)	Familial renal glucosuria +1 more	GUncertain significance
Select item 884767	NM_003041.4(SLC5A2):c.1366A>C (p.Ile456Leu)	SLC5A2 (I456L)	Single nucleotide variant (missense variant)	Familial renal glucosuria	GUncertain significance
Select item 884766	NM_003041.4(SLC5A2):c.1275G>A (p.Val425=)	SLC5A2	Single nucleotide variant (synonymous variant)	Familial renal glucosuria	GUncertain significance
Select item 884765	NM_003041.4(SLC5A2):c.1265T>C (p.Leu422Pro)	SLC5A2 (L422P)	Single nucleotide variant (missense variant)	Familial renal glucosuria	GUncertain significance
Select item 829885	NM_003041.4(SLC5A2):c.227T>A (p.Ile76Asn)	SLC5A2 (I76N)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 804477	NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs)	SLC5A2 (E99fs)	Insertion (frameshift variant +1 more)	Familial renal glucosuria	GLikely pathogenic
Select item 785785	NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 777013	NM_003041.4(SLC5A2):c.60T>C (p.Ile20=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 638410	NM_003041.4(SLC5A2):c.655+6G>C	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria	GUncertain significance
Select item 632249	NM_003041.4(SLC5A2):c.885+5G>A	SLC5A2, LOC130058907	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 522721	NM_003041.4(SLC5A2):c.416G>A (p.Arg139His)	SLC5A2 (R139H)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 522538	NM_003041.4(SLC5A2):c.1291del (p.Val431fs)	SLC5A2 (V431fs)	Deletion (frameshift variant)	Familial renal glucosuria	GPathogenic
Select item 522416	NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys)	SLC5A2 (G449C)	Single nucleotide variant (missense variant)	Familial renal glucosuria	GLikely pathogenic
Select item 438656	NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp)	SLC5A2 (G484D)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GLikely pathogenic
Select item 420178	NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del)	SLC5A2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 319084	NM_003041.4(SLC5A2):c.*63G>A	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 319083	NM_003041.4(SLC5A2):c.1982T>C (p.Met661Thr)	RUSF1, SLC5A2 (M661T)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 319082	NM_003041.4(SLC5A2):c.1933G>A (p.Glu645Lys)	SLC5A2, RUSF1 (E645K)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 319081	NM_003041.4(SLC5A2):c.1926C>T (p.Asp642=)	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GLikely benign
Select item 319080	NM_003041.4(SLC5A2):c.1902G>A (p.Ala634=)	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 319079	NM_003041.4(SLC5A2):c.1895A>C (p.Glu632Ala)	RUSF1, SLC5A2 (E632A)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 319078	NM_003041.4(SLC5A2):c.1889AGG[2] (p.Glu632del)	RUSF1, SLC5A2 (E632del)	Microsatellite (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 319077	NM_003041.4(SLC5A2):c.1885A>G (p.Thr629Ala)	RUSF1, SLC5A2 (T629A)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria +1 more	GBenign
Select item 319076	NM_003041.4(SLC5A2):c.1877C>T (p.Pro626Leu)	RUSF1, SLC5A2 (P626L)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 319075	NM_003041.4(SLC5A2):c.1844G>C (p.Cys615Ser)	RUSF1, SLC5A2 (C615S)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 319074	NM_003041.4(SLC5A2):c.1792+12T>C	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 319073	NM_003041.4(SLC5A2):c.1773G>T (p.Glu591Asp)	RUSF1, SLC5A2 (E591D)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 319072	NM_003041.4(SLC5A2):c.1719G>T (p.Leu573=)	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 319071	NM_003041.4(SLC5A2):c.1692G>A (p.Arg564=)	SLC5A2, RUSF1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria +1 more	GConflicting classifications of pathogenicity
Select item 319070	NM_003041.4(SLC5A2):c.1626C>G (p.Leu542=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	Familial renal glucosuria +1 more	GBenign
Select item 319069	NM_003041.4(SLC5A2):c.1603T>G (p.Phe535Val)	SLC5A2 (F535V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 319068	NM_003041.4(SLC5A2):c.1594G>A (p.Val532Met)	SLC5A2 (V532M)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 319067	NM_003041.4(SLC5A2):c.1455C>T (p.Ala485=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 319066	NM_003041.4(SLC5A2):c.1450-4G>A	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria	GUncertain significance
Select item 319065	NM_003041.4(SLC5A2):c.1450-14T>C	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria	GUncertain significance
Select item 319064	NM_003041.4(SLC5A2):c.1449+14G>A	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria	GUncertain significance

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