RUSF1[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
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 disorder	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 319071	NM_003041.4(SLC5A2):c.1692G>A (p.Arg564=)	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 3350344	NM_022744.4(RUSF1):c.*601C>G	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +1 more)	C16orf58-related condition	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 3320043	NM_003041.4(SLC5A2):c.1901C>T (p.Ala634Val)	RUSF1, SLC5A2 (A634V)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	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 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 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 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 3320039	NM_003041.4(SLC5A2):c.1951C>G (p.Arg651Gly)	RUSF1, SLC5A2 (R651G)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	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)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 3157237	NM_022744.4(RUSF1):c.947C>T (p.Pro316Leu)	RUSF1 (P316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157236	NM_022744.4(RUSF1):c.890A>G (p.Lys297Arg)	RUSF1 (K297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157235	NM_022744.4(RUSF1):c.864C>A (p.Asn288Lys)	RUSF1 (N288K)	Single nucleotide variant (missense variant)	not specified	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 3157234	NM_022744.4(RUSF1):c.442G>A (p.Val148Ile)	RUSF1 (V148I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221519	GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3	AHSP, ARMC5 +15 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 57