"Ambry Genetics"[submitter] AND "SOD2"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2548485	NM_000636.4(SOD2):c.656C>T (p.Ala219Val)	SOD2 (A159V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294693	NM_000636.4(SOD2):c.633G>T (p.Glu211Asp)	SOD2 (E165D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228878	NM_000636.4(SOD2):c.631G>A (p.Glu211Lys)	SOD2 (E165K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346784	NM_000636.4(SOD2):c.550G>A (p.Val184Met)	SOD2 (V138M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211268	NM_000636.4(SOD2):c.467G>A (p.Arg156Gln)	SOD2 (R117Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2359682	NM_000636.4(SOD2):c.424G>T (p.Val142Phe)	SOD2 (V103F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281066	NM_000636.4(SOD2):c.412G>T (p.Ala138Ser)	SOD2 (A99S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167445	NM_000636.4(SOD2):c.399G>C (p.Glu133Asp)	SOD2 (E94D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167444	NM_000636.4(SOD2):c.371A>T (p.Asp124Val)	SOD2 (D124V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167443	NM_000636.4(SOD2):c.367C>T (p.Arg123Cys)	SOD2 (R123C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167442	NM_000636.4(SOD2):c.365A>T (p.Lys122Ile)	SOD2 (K122I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368800	NM_000636.4(SOD2):c.346G>C (p.Glu116Gln)	SOD2 (E116Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241947	NM_000636.4(SOD2):c.230A>T (p.Asp77Val)	SOD2 (D31V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260690	NM_000636.4(SOD2):c.182A>C (p.Asn61Thr)	SOD2 (N61T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167441	NM_000636.4(SOD2):c.131C>G (p.Ala44Gly)	SOD2 (A44G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303139	NM_000636.4(SOD2):c.113T>A (p.Leu38Gln)	SOD2 (L38Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365972	NM_001270531.2(WTAP):c.311G>C (p.Ser104Thr)	SOD2, WTAP (S104T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333291	NM_001270531.2(WTAP):c.367A>G (p.Lys123Glu)	SOD2, WTAP (K123E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285043	NM_001270531.2(WTAP):c.369A>T (p.Lys123Asn)	SOD2, WTAP (K123N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339582	NM_001270531.2(WTAP):c.790G>A (p.Glu264Lys)	SOD2, WTAP (E264K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339583	NM_001270531.2(WTAP):c.791A>G (p.Glu264Gly)	SOD2, WTAP (E264G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214515	NM_001270531.2(WTAP):c.793G>A (p.Ala265Thr)	SOD2, WTAP (A265T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412553	NM_001270531.2(WTAP):c.850C>T (p.Arg284Cys)	SOD2, WTAP (R284C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190840	NM_001270531.2(WTAP):c.860C>T (p.Thr287Met)	SOD2, WTAP (T287M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333292	NM_001270531.2(WTAP):c.1087C>G (p.Gln363Glu)	SOD2, WTAP (Q363E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 25