ClinVar for MedGen (Select 1807366) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251961	NM_019066.5(MAGEL2):c.3628C>T (p.Gln1210Ter)	MAGEL2 (Q1210*)	Single nucleotide variant (nonsense)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 3250448	NM_019066.5(MAGEL2):c.476T>C (p.Met159Thr)	MAGEL2 (M159T)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	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 3048699	NM_019066.5(MAGEL2):c.477G>A (p.Met159Ile)	MAGEL2 (M159I)	Single nucleotide variant (missense variant)	MAGEL2-related disorder +1 more	GUncertain significance
Select item 2786992	NM_019066.5(MAGEL2):c.2941C>T (p.Leu981Phe)	MAGEL2 (L981F)	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 2689391	NM_019066.5(MAGEL2):c.465G>A (p.Pro155=)	MAGEL2	Single nucleotide variant (synonymous variant)	Schaaf-Yang syndrome +1 more	GConflicting classifications of pathogenicity
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 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 2626921	NM_019066.5(MAGEL2):c.2319del (p.Ala772_Trp773insTer)	MAGEL2	Deletion (nonsense)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 2584558	NM_019066.5(MAGEL2):c.293_294delinsAT (p.Pro98His)	MAGEL2 (P98H)	Indel (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2572401	NM_019066.5(MAGEL2):c.1656del (p.Ala553fs)	MAGEL2 (A553fs)	Deletion (frameshift variant)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 2499594	NM_019066.5(MAGEL2):c.2895G>A (p.Trp965Ter)	MAGEL2 (W965*)	Single nucleotide variant (nonsense)	Schaaf-Yang syndrome	GPathogenic
Select item 2441898	NM_019066.5(MAGEL2):c.2147C>T (p.Thr716Ile)	MAGEL2 (T716I)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +1 more	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 2433624	NM_019066.5(MAGEL2):c.2119C>T (p.Pro707Ser)	MAGEL2 (P707S)	Single nucleotide variant (missense variant)	MAGEL2-related disorder +1 more	GUncertain significance
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 2433617	NM_019066.5(MAGEL2):c.1112C>T (p.Thr371Ile)	MAGEL2 (T371I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2433616	NM_019066.5(MAGEL2):c.2745G>T (p.Glu915Asp)	MAGEL2 (E915D)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +1 more	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 2433613	NM_019066.5(MAGEL2):c.16A>G (p.Lys6Glu)	MAGEL2 (K6E)	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 +1 more	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 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 2433607	NM_019066.5(MAGEL2):c.1430C>G (p.Pro477Arg)	MAGEL2 (P477R)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +1 more	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 2433604	NM_019066.5(MAGEL2):c.3633C>A (p.Ser1211Arg)	MAGEL2 (S1211R)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +2 more	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 2431936	NM_019066.5(MAGEL2):c.1051G>A (p.Val351Ile)	MAGEL2 (V351I)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
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 2306671	NM_019066.5(MAGEL2):c.1923dup (p.Val643fs)	MAGEL2 (V643fs)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 2203764	NM_019066.5(MAGEL2):c.2587C>A (p.Gln863Lys)	MAGEL2 (Q863K)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 2186139	NM_019066.5(MAGEL2):c.1742A>C (p.His581Pro)	MAGEL2 (H581P)	Single nucleotide variant (missense variant)	not provided +3 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 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 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 1926134	NM_019066.5(MAGEL2):c.959C>T (p.Ala320Val)	MAGEL2 (A320V)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +2 more	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 1802612	NM_019066.5(MAGEL2):c.1597del (p.Ala533fs)	MAGEL2 (A533fs)	Deletion (frameshift variant)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 1709234	NM_019066.5(MAGEL2):c.1766C>A (p.Ala589Asp)	MAGEL2 (A589D)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 1704048	NM_019066.5(MAGEL2):c.626T>C (p.Met209Thr)	MAGEL2 (M209T)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +1 more	GUncertain significance
Select item 1701775	NM_019066.5(MAGEL2):c.3661G>A (p.Ala1221Thr)	MAGEL2 (A1221T)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1701757	NM_019066.5(MAGEL2):c.1445C>T (p.Ala482Val)	MAGEL2 (A482V)	Single nucleotide variant (missense variant)	not provided +1 more	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 1696552	NM_019066.5(MAGEL2):c.3384G>C (p.Arg1128Ser)	MAGEL2 (R1128S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1696363	NM_019066.5(MAGEL2):c.3449_3450del (p.Phe1150fs)	MAGEL2 (F1150fs)	Deletion (frameshift variant)	Schaaf-Yang syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1691868	NM_019066.5(MAGEL2):c.1687C>T (p.Gln563Ter)	MAGEL2 (Q563*)	Single nucleotide variant (nonsense)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 1687344	NM_019066.5(MAGEL2):c.2057G>A (p.Trp686Ter)	MAGEL2 (W686*)	Single nucleotide variant (nonsense)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 1684524	NM_019066.5(MAGEL2):c.3131C>A (p.Ser1044Ter)	MAGEL2 (S1044*)	Single nucleotide variant (nonsense)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 1684505	NM_019066.5(MAGEL2):c.1262C>G (p.Pro421Arg)	MAGEL2 (P421R)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 1328528	NM_019066.5(MAGEL2):c.48G>T (p.Glu16Asp)	MAGEL2 (E16D)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	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 1320254	NM_019066.5(MAGEL2):c.2216del (p.Ser738_Ser739insTer)	MAGEL2	Deletion (nonsense)	Schaaf-Yang syndrome	GPathogenic
Select item 1319713	NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala)	MAGEL2 (V180A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1284465	NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu)	MAGEL2 (P664L)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1233505	NM_019066.5(MAGEL2):c.2611_2612delinsTT (p.Ala871Phe)	MAGEL2 (A871F)	Indel (missense variant)	Schaaf-Yang syndrome +2 more	GBenign/Likely benign
Select item 1197059	NM_019066.5(MAGEL2):c.2212_2232dup (p.Ser738_Ala744dup)	MAGEL2	Duplication (inframe_insertion)	Schaaf-Yang syndrome +1 more	GUncertain significance
Select item 1184407	NM_019066.5(MAGEL2):c.2343G>T (p.Glu781Asp)	MAGEL2 (E781D)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +1 more	GUncertain significance
Select item 1184373	NM_019066.5(MAGEL2):c.509_510delinsTG (p.Ala170Val)	MAGEL2 (A170V)	Indel (missense variant)	Schaaf-Yang syndrome +1 more	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 1098312	NM_019066.5(MAGEL2):c.1104G>A (p.Trp368Ter)	MAGEL2 (W368*)	Single nucleotide variant (nonsense)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 1098311	NM_019066.5(MAGEL2):c.2646del (p.Gly883fs)	MAGEL2 (G883fs)	Deletion (frameshift variant)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 1098310	NM_019066.5(MAGEL2):c.648del (p.Thr217fs)	MAGEL2 (T217fs)	Deletion (frameshift variant)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 1098309	NM_019066.5(MAGEL2):c.1015C>T (p.Gln339Ter)	MAGEL2 (Q339*)	Single nucleotide variant (nonsense)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 1098308	NM_019066.5(MAGEL2):c.3583del (p.Met1195fs)	MAGEL2 (M1195fs)	Deletion (frameshift variant)	Schaaf-Yang syndrome	GLikely pathogenic
Select item 1065480	NM_019066.5(MAGEL2):c.277C>T (p.Pro93Ser)	MAGEL2 (P93S)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GPathogenic
Select item 1028143	NM_019066.5(MAGEL2):c.877G>A (p.Gly293Ser)	MAGEL2 (G293S)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 1028142	NM_019066.5(MAGEL2):c.2839G>C (p.Glu947Gln)	MAGEL2 (E947Q)	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 1028140	NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu)	MAGEL2 (P547L)	Single nucleotide variant (missense variant)	Prader-Willi syndrome +1 more	GUncertain significance
Select item 1028139	NM_019066.5(MAGEL2):c.1276G>A (p.Gly426Ser)	MAGEL2 (G426S)	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 1028137	NM_019066.5(MAGEL2):c.1145_1147dup (p.Trp382_Gln383insArg)	MAGEL2	Duplication (inframe_insertion)	Schaaf-Yang syndrome	GUncertain significance
Select item 986880	NM_019066.5(MAGEL2):c.2847_2883del (p.Ser950fs)	MAGEL2 (S950fs)	Deletion (frameshift variant)	Schaaf-Yang syndrome +1 more	GPathogenic/Likely pathogenic
Select item 983128	NM_019066.5(MAGEL2):c.494C>T (p.Pro165Leu)	MAGEL2 (P165L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 981450	NM_019066.5(MAGEL2):c.1930C>T (p.Gln644Ter)	MAGEL2 (Q644*)	Single nucleotide variant (nonsense)	Intellectual disability +1 more	GPathogenic/Likely pathogenic
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 973315	NM_019066.5(MAGEL2):c.1468C>G (p.Pro490Ala)	MAGEL2 (P490A)	Single nucleotide variant (missense variant)	MAGEL2-related disorder +3 more	GUncertain significance
Select item 973031	NM_019066.5(MAGEL2):c.1601del (p.Pro534fs)	MAGEL2 (P534fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 870506	NM_019066.5(MAGEL2):c.1613C>A (p.Ala538Glu)	MAGEL2 (A538E)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome	GPathogenic
Select item 816928	NM_019066.5(MAGEL2):c.3246del (p.Asn1084fs)	MAGEL2 (N1084fs)	Deletion (frameshift variant)	Schaaf-Yang syndrome	GPathogenic
Select item 803054	NM_019066.5(MAGEL2):c.2199del (p.Glu734fs)	MAGEL2 (E734fs)	Deletion (frameshift variant)	Schaaf-Yang syndrome	GPathogenic
Select item 692038	NM_019066.5(MAGEL2):c.188dup (p.Ala64fs)	MAGEL2 (A64fs)	Duplication (frameshift variant)	Schaaf-Yang syndrome	GPathogenic
Select item 599395	NM_019066.5(MAGEL2):c.2170_2232dup (p.Ser724_Ala744dup)	MAGEL2	Duplication (inframe_insertion)	Schaaf-Yang syndrome	GUncertain significance
Select item 598332	NM_019066.5(MAGEL2):c.2572A>T (p.Thr858Ser)	MAGEL2 (T858S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 548683	NM_019066.5(MAGEL2):c.1762C>T (p.Gln588Ter)	MAGEL2 (Q588*)	Single nucleotide variant (nonsense)	Schaaf-Yang syndrome	GPathogenic
Select item 548682	NM_019066.5(MAGEL2):c.1761G>A (p.Trp587Ter)	MAGEL2 (W587*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 440466	NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter)	MAGEL2 (Q541*)	Single nucleotide variant (nonsense)	Schaaf-Yang syndrome	GPathogenic/Likely pathogenic
Select item 440464	NM_019066.5(MAGEL2):c.2118del (p.Leu708fs)	MAGEL2 (L708fs)	Deletion (frameshift variant)	Schaaf-Yang syndrome	GPathogenic
Select item 440463	NM_019066.5(MAGEL2):c.1996del (p.Gln666fs)	MAGEL2 (Q666fs)	Deletion (frameshift variant)	Generalized hypotonia +4 more	GPathogenic

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