"Ambry Genetics"[submitter] AND "SETMAR"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2532231	NM_006515.4(SETMAR):c.23C>G (p.Thr8Arg)	SETMAR, SUMF1 (T8R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405805	NM_006515.4(SETMAR):c.28C>T (p.Arg10Trp)	SETMAR, SUMF1 (R10W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348386	NM_006515.4(SETMAR):c.43G>A (p.Ala15Thr)	SUMF1, SETMAR (A15T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605275	NM_006515.4(SETMAR):c.67G>A (p.Ala23Thr)	SETMAR, SUMF1 (A23T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358953	NM_006515.4(SETMAR):c.116T>G (p.Val39Gly)	SUMF1, SETMAR (W11G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230214	NM_006515.4(SETMAR):c.151T>G (p.Phe51Val)	SETMAR, SUMF1 (F51V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2316333	NM_006515.4(SETMAR):c.192C>G (p.Asp64Glu)	SETMAR, SUMF1 (D64E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2608522	NM_006515.4(SETMAR):c.239C>T (p.Thr80Ile)	SETMAR, SUMF1 (T80I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2204532	NM_006515.4(SETMAR):c.433A>G (p.Lys145Glu)	SETMAR, SUMF1 (K145E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2401031	NM_006515.4(SETMAR):c.460C>T (p.Arg154Cys)	SETMAR, SUMF1 (R154C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2238235	NM_006515.4(SETMAR):c.479C>T (p.Pro160Leu)	SETMAR, SUMF1 (R50* +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2621831	NM_006515.4(SETMAR):c.497G>C (p.Cys166Ser)	SETMAR, SUMF1 (C166S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383894	NM_006515.4(SETMAR):c.533T>C (p.Val178Ala)	SUMF1, SETMAR (V178A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524808	NM_006515.4(SETMAR):c.707G>A (p.Arg236Gln)	SETMAR, SUMF1 (R236Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270482	NM_006515.4(SETMAR):c.742G>A (p.Ala248Thr)	SETMAR, SUMF1 (A248T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536843	NM_006515.4(SETMAR):c.763G>A (p.Glu255Lys)	SETMAR, SUMF1 (E255K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376612	NM_006515.4(SETMAR):c.839A>T (p.His280Leu)	SUMF1, SETMAR (H280L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265458	NM_006515.4(SETMAR):c.842G>A (p.Gly281Glu)	SETMAR, SUMF1 (G281E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403619	NM_006515.4(SETMAR):c.899T>A (p.Phe300Tyr)	SETMAR, SUMF1 (F300Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2304213	NM_006515.4(SETMAR):c.922G>A (p.Val308Ile)	SETMAR, SUMF1 (V169I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328643	NM_006515.4(SETMAR):c.967A>C (p.Met323Leu)	SUMF1, SETMAR (M323L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488782	NM_006515.4(SETMAR):c.1009T>A (p.Leu337Met)	SETMAR, SUMF1 (L81M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607395	NM_006515.4(SETMAR):c.1012A>G (p.Thr338Ala)	SETMAR, SUMF1 (T338A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 23