"Ambry Genetics"[submitter] AND "RUSF1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 3157234	NM_022744.4(RUSF1):c.442G>A (p.Val148Ile)	RUSF1 (V148I)	Single nucleotide variant (missense variant)	not specified	GLikely benign