Related gene-specific medical variations for Gene (Select 54551) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361885	NM_019066.5(MAGEL2):c.1924T>G (p.Leu642Val)	MAGEL2 (L642V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361759	NM_019066.5(MAGEL2):c.169G>C (p.Ala57Pro)	MAGEL2 (A57P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361311	NM_019066.5(MAGEL2):c.2113A>C (p.Asn705His)	MAGEL2 (N705H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360958	NM_019066.5(MAGEL2):c.497G>A (p.Gly166Glu)	MAGEL2 (G166E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359311	NM_019066.5(MAGEL2):c.313C>A (p.Pro105Thr)	MAGEL2 (P105T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248527	NM_019066.5(MAGEL2):c.368C>T (p.Pro123Leu)	MAGEL2 (P123L)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GLikely benign
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 2672223	NM_019066.5(MAGEL2):c.2840delinsTTT (p.Glu947fs)	MAGEL2 (E947fs)	Indel (frameshift variant)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 2665038	NM_019066.5(MAGEL2):c.992C>T (p.Pro331Leu)	MAGEL2 (P331L)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2576153	NM_019066.5(MAGEL2):c.3131C>G (p.Ser1044Trp)	MAGEL2 (S1044W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441837	NM_019066.5(MAGEL2):c.113G>A (p.Arg38Gln)	MAGEL2 (R38Q)	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 2433623	NM_019066.5(MAGEL2):c.451C>A (p.His151Asn)	MAGEL2 (H151N)	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 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 2433618	NM_019066.5(MAGEL2):c.2701C>T (p.His901Tyr)	MAGEL2 (H901Y)	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
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 2433610	NM_019066.5(MAGEL2):c.2296C>G (p.Arg766Gly)	MAGEL2 (R766G)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	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 2433606	NM_019066.5(MAGEL2):c.1895C>A (p.Ala632Asp)	MAGEL2 (A632D)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
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 2429984	NM_019066.5(MAGEL2):c.2036del (p.Thr679fs)	MAGEL2 (T679fs)	Deletion (frameshift variant)	Developmental disorder	GPathogenic
Select item 2429983	NM_019066.5(MAGEL2):c.843TCCAGG[1] (p.282PG[1])	MAGEL2	Microsatellite (inframe_deletion)	Autism spectrum disorder	GUncertain significance
Select item 1803853	NM_019066.5(MAGEL2):c.623C>A (p.Pro208Gln)	MAGEL2 (P208Q)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 1701744	NM_019066.5(MAGEL2):c.3559C>T (p.Arg1187Ter)	MAGEL2 (R1187*)	Single nucleotide variant (nonsense)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 1696497	NM_019066.5(MAGEL2):c.2363G>T (p.Ser788Ile)	MAGEL2 (S788I)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 1676556	NM_019066.5(MAGEL2):c.2161T>A (p.Cys721Ser)	MAGEL2 (C721S)	Single nucleotide variant	not provided	GUncertain significance
Select item 1676414	NM_019066.5(MAGEL2):c.551C>A (p.Pro184His)	MAGEL2 (P184H)	Single nucleotide variant	not provided	GUncertain significance
Select item 1325548	NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr)	MAGEL2 (A74T)	Single nucleotide variant (missense variant)	Prader-Willi syndrome +1 more	GUncertain significance
Select item 1319714	NM_019066.5(MAGEL2):c.3075T>A (p.Asn1025Lys)	MAGEL2 (N1025K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098692	NM_019066.5(MAGEL2):c.2746A>G (p.Asn916Asp)	MAGEL2 (N916D)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 1028141	NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr)	MAGEL2 (A658T)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +1 more	GUncertain significance
Select item 1028138	NM_019066.5(MAGEL2):c.1188G>A (p.Trp396Ter)	MAGEL2 (W396*)	Single nucleotide variant (nonsense)	Schaaf-Yang syndrome	GUncertain significance
Select item 983392	NM_019066.5(MAGEL2):c.2498C>A (p.Ala833Glu)	MAGEL2 (A833E)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 974880	NM_019066.5(MAGEL2):c.1808C>G (p.Ser603Ter)	MAGEL2 (S603*)	Single nucleotide variant (nonsense)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 930673	NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu)	MAGEL2 (S1044L)	Single nucleotide variant (missense variant)	Prader-Willi syndrome	GUncertain significance
Select item 930278	NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer)	MAGEL2	Microsatellite (nonsense)	Prader-Willi syndrome	GLikely pathogenic

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Links from Gene

Items: 39