"Revvity Omics, Revvity"[submitter] AND "MAGEL2"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2428911	NM_019066.5(MAGEL2):c.3727A>G (p.Thr1243Ala)	MAGEL2 (T1243A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2689392	NM_019066.5(MAGEL2):c.3720C>A (p.His1240Gln)	MAGEL2 (H1240Q)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2433604	NM_019066.5(MAGEL2):c.3633C>A (p.Ser1211Arg)	MAGEL2 (S1211R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2062869	NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp)	MAGEL2 (A1086D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2433611	NM_019066.5(MAGEL2):c.3035T>A (p.Val1012Glu)	MAGEL2 (V1012E)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2433616	NM_019066.5(MAGEL2):c.2745G>T (p.Glu915Asp)	MAGEL2 (E915D)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2433618	NM_019066.5(MAGEL2):c.2701C>T (p.His901Tyr)	MAGEL2 (H901Y)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 598332	NM_019066.5(MAGEL2):c.2572A>T (p.Thr858Ser)	MAGEL2 (T858S)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +1 more	GUncertain significance
Select item 2433610	NM_019066.5(MAGEL2):c.2296C>G (p.Arg766Gly)	MAGEL2 (R766G)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2433612	NM_019066.5(MAGEL2):c.2120C>T (p.Pro707Leu)	MAGEL2 (P707L)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2433624	NM_019066.5(MAGEL2):c.2119C>T (p.Pro707Ser)	MAGEL2 (P707S)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2433621	NM_019066.5(MAGEL2):c.2107G>C (p.Ala703Pro)	MAGEL2 (A703P)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2441313	NM_019066.5(MAGEL2):c.2055del (p.Trp686fs)	MAGEL2 (W686fs)	Deletion (frameshift variant)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 190122	NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)	MAGEL2 (Q666fs)	Duplication (frameshift variant)	Neurodevelopmental delay +5 more	GPathogenic
Select item 265643	NM_019066.5(MAGEL2):c.1996C>T (p.Gln666Ter)	MAGEL2 (Q666*)	Single nucleotide variant (nonsense)	Schaaf-Yang syndrome +1 more	GPathogenic
Select item 2634284	NM_019066.5(MAGEL2):c.1963T>C (p.Ser655Pro)	MAGEL2 (S655P)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +2 more	GUncertain significance
Select item 2306671	NM_019066.5(MAGEL2):c.1923dup (p.Val643fs)	MAGEL2 (V643fs)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2433606	NM_019066.5(MAGEL2):c.1895C>A (p.Ala632Asp)	MAGEL2 (A632D)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 1963170	NM_019066.5(MAGEL2):c.1784C>T (p.Pro595Leu)	MAGEL2 (P595L)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +1 more	GUncertain significance
Select item 1981209	NM_019066.5(MAGEL2):c.1772A>G (p.Lys591Arg)	MAGEL2 (K591R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2186139	NM_019066.5(MAGEL2):c.1742A>C (p.His581Pro)	MAGEL2 (H581P)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +2 more	GUncertain significance
Select item 2433607	NM_019066.5(MAGEL2):c.1430C>G (p.Pro477Arg)	MAGEL2 (P477R)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 193402	NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser)	MAGEL2 (A475S)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2433603	NM_019066.5(MAGEL2):c.1321C>T (p.Pro441Ser)	MAGEL2 (P441S)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2433615	NM_019066.5(MAGEL2):c.1298C>A (p.Ala433Asp)	MAGEL2 (A433D)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2228647	NM_019066.5(MAGEL2):c.1249C>T (p.Arg417Cys)	MAGEL2 (R417C)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +2 more	GUncertain significance
Select item 2433609	NM_019066.5(MAGEL2):c.1248C>T (p.Ile416=)	MAGEL2	Single nucleotide variant (synonymous variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2433608	NM_019066.5(MAGEL2):c.1171A>T (p.Thr391Ser)	MAGEL2 (T391S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2433617	NM_019066.5(MAGEL2):c.1112C>T (p.Thr371Ile)	MAGEL2 (T371I)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +1 more	GUncertain significance
Select item 1926134	NM_019066.5(MAGEL2):c.959C>T (p.Ala320Val)	MAGEL2 (A320V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1319713	NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala)	MAGEL2 (V180A)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2689391	NM_019066.5(MAGEL2):c.465G>A (p.Pro155=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2433623	NM_019066.5(MAGEL2):c.451C>A (p.His151Asn)	MAGEL2 (H151N)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2433620	NM_019066.5(MAGEL2):c.272C>T (p.Pro91Leu)	MAGEL2 (P91L)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2433619	NM_019066.5(MAGEL2):c.220G>C (p.Ala74Pro)	MAGEL2 (A74P)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2433613	NM_019066.5(MAGEL2):c.16A>G (p.Lys6Glu)	MAGEL2 (K6E)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance

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Items: 36