Related gene-specific medical variations for Gene (Select 64755) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2271601	NM_003041.4(SLC5A2):c.1876C>T (p.Pro626Ser)	SLC5A2, RUSF1 (P626S)	Single nucleotide variant (3 prime UTR variant +2 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)	SLC5A2, RUSF1 (S581F)	Single nucleotide variant (3 prime UTR variant +2 more)	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 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 886718	NM_003041.4(SLC5A2):c.1791T>C (p.Asn597=)	RUSF1, SLC5A2	Single nucleotide variant (synonymous variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 885765	NM_003041.4(SLC5A2):c.*160C>T	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 885764	NM_003041.4(SLC5A2):c.*70C>G	SLC5A2, RUSF1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 885763	NM_003041.4(SLC5A2):c.*48G>A	SLC5A2, RUSF1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial renal glucosuria	GLikely benign
Select item 884837	NM_003041.4(SLC5A2):c.*33C>G	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial renal glucosuria	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	GUncertain significance
Select item 319084	NM_003041.4(SLC5A2):c.*63G>A	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial renal glucosuria	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)	RUSF1, SLC5A2 (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)	SLC5A2-related condition +1 more	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)	not provided +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=)	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GUncertain significance
Select item 92012	NM_022744.4(RUSF1):c.831C>G (p.Arg277=)	RUSF1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 12905	NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser)	RUSF1, SLC5A2 (N654S)	Single nucleotide variant (3 prime UTR variant +2 more)	SLC5A2-related condition +3 more	GConflicting classifications of pathogenicity

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Items: 34