"Ambry Genetics"[submitter] AND "MAGED2"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3122179	NM_177433.3(MAGED2):c.128C>T (p.Pro43Leu)	MAGED2 (P43L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619319	NM_177433.3(MAGED2):c.251C>T (p.Ser84Leu)	MAGED2 (S84L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237419	NM_177433.3(MAGED2):c.344C>T (p.Ala115Val)	MAGED2 (A115V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122181	NM_177433.3(MAGED2):c.377T>A (p.Val126Asp)	MAGED2 (V126D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331618	NM_177433.3(MAGED2):c.449C>A (p.Ala150Glu)	MAGED2 (A150E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122182	NM_177433.3(MAGED2):c.506G>A (p.Arg169Gln)	MAGED2 (R169Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122183	NM_177433.3(MAGED2):c.613G>A (p.Val205Ile)	MAGED2 (V205I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309205	NM_177433.3(MAGED2):c.629T>C (p.Met210Thr)	MAGED2 (M210T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292660	NM_177433.3(MAGED2):c.692G>A (p.Arg231Lys)	MAGED2 (R231K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292661	NM_177433.3(MAGED2):c.767G>A (p.Arg256His)	MAGED2 (R256H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230660	NM_177433.3(MAGED2):c.812C>A (p.Pro271Gln)	MAGED2 (P271Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532554	NM_177433.3(MAGED2):c.821G>A (p.Arg274Gln)	MAGED2 (R274Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721789	NM_177433.3(MAGED2):c.887C>T (p.Thr296Met)	MAGED2 (T296M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2304039	NM_177433.3(MAGED2):c.991-6C>T	MAGED2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2180197	NM_177433.3(MAGED2):c.1166C>G (p.Ala389Gly)	MAGED2 (A389G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 764396	NM_177433.3(MAGED2):c.1212A>G (p.Ile404Met)	MAGED2 (I404M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2487050	NM_177433.3(MAGED2):c.1238A>G (p.Lys413Arg)	MAGED2 (K413R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292663	NM_177433.3(MAGED2):c.1670A>G (p.Asn557Ser)	MAGED2 (N557S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122180	NM_177433.3(MAGED2):c.1718C>T (p.Ala573Val)	MAGED2 (A573V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299028	NM_177433.3(MAGED2):c.1762G>A (p.Gly588Ser)	MAGED2 (G588S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2533558	NM_177433.3(MAGED2):c.1768G>A (p.Ala590Thr)	MAGED2 (A590T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 21