ClinVar Miner

List of variants in gene MAGEL2 reported as uncertain significance for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_019066.5(MAGEL2):c.959C>A (p.Ala320Asp) rs541606785 0.00070
NM_019066.5(MAGEL2):c.494C>T (p.Pro165Leu) rs572249702 0.00045
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser) rs760039339 0.00040
NM_019066.5(MAGEL2):c.717G>A (p.Met239Ile) rs552582918 0.00019
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln) rs199772480 0.00014
NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala) rs58729661 0.00014
NM_019066.5(MAGEL2):c.1468C>G (p.Pro490Ala) rs933647897 0.00009
NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu) rs1267794670 0.00002
NM_019066.5(MAGEL2):c.1145_1147dup (p.Trp382_Gln383insArg) rs1397065690 0.00001
NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu) rs964772041 0.00001
NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr) rs1216919340 0.00001
NM_019066.5(MAGEL2):c.2343G>T (p.Glu781Asp) rs772413215 0.00001
NM_019066.5(MAGEL2):c.2363G>T (p.Ser788Ile) rs984557516 0.00001
NM_019066.5(MAGEL2):c.1051G>A (p.Val351Ile)
NM_019066.5(MAGEL2):c.1112C>T (p.Thr371Ile)
NM_019066.5(MAGEL2):c.113G>A (p.Arg38Gln)
NM_019066.5(MAGEL2):c.1171A>T (p.Thr391Ser)
NM_019066.5(MAGEL2):c.1188G>A (p.Trp396Ter) rs1890410630
NM_019066.5(MAGEL2):c.1248C>T (p.Ile416=)
NM_019066.5(MAGEL2):c.1249C>T (p.Arg417Cys)
NM_019066.5(MAGEL2):c.1262C>G (p.Pro421Arg) rs2140716697
NM_019066.5(MAGEL2):c.1276G>A (p.Gly426Ser) rs1890407784
NM_019066.5(MAGEL2):c.1298C>A (p.Ala433Asp)
NM_019066.5(MAGEL2):c.1321C>T (p.Pro441Ser)
NM_019066.5(MAGEL2):c.1430C>G (p.Pro477Arg)
NM_019066.5(MAGEL2):c.1445C>T (p.Ala482Val) rs2140716042
NM_019066.5(MAGEL2):c.16A>G (p.Lys6Glu)
NM_019066.5(MAGEL2):c.1715C>T (p.Ala572Val) rs1064797195
NM_019066.5(MAGEL2):c.1742A>C (p.His581Pro)
NM_019066.5(MAGEL2):c.1766C>A (p.Ala589Asp)
NM_019066.5(MAGEL2):c.1772A>G (p.Lys591Arg)
NM_019066.5(MAGEL2):c.1784C>T (p.Pro595Leu)
NM_019066.5(MAGEL2):c.1895C>A (p.Ala632Asp)
NM_019066.5(MAGEL2):c.1963T>C (p.Ser655Pro)
NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr) rs1890385864
NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu) rs201935129
NM_019066.5(MAGEL2):c.2107G>C (p.Ala703Pro)
NM_019066.5(MAGEL2):c.2119C>T (p.Pro707Ser)
NM_019066.5(MAGEL2):c.2120C>T (p.Pro707Leu)
NM_019066.5(MAGEL2):c.2147C>T (p.Thr716Ile)
NM_019066.5(MAGEL2):c.2170_2232dup (p.Ser724_Ala744dup) rs1566784117
NM_019066.5(MAGEL2):c.220G>C (p.Ala74Pro)
NM_019066.5(MAGEL2):c.2212_2232dup (p.Ser738_Ala744dup) rs768384701
NM_019066.5(MAGEL2):c.2296C>G (p.Arg766Gly)
NM_019066.5(MAGEL2):c.2572A>T (p.Thr858Ser) rs1343066533
NM_019066.5(MAGEL2):c.2587C>A (p.Gln863Lys)
NM_019066.5(MAGEL2):c.2701C>T (p.His901Tyr)
NM_019066.5(MAGEL2):c.272C>T (p.Pro91Leu)
NM_019066.5(MAGEL2):c.2745G>T (p.Glu915Asp)
NM_019066.5(MAGEL2):c.2746A>G (p.Asn916Asp) rs2140713261
NM_019066.5(MAGEL2):c.2839G>C (p.Glu947Gln) rs1890360315
NM_019066.5(MAGEL2):c.293_294delinsAT (p.Pro98His)
NM_019066.5(MAGEL2):c.3035T>A (p.Val1012Glu)
NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu) rs1267004913
NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp)
NM_019066.5(MAGEL2):c.3384G>C (p.Arg1128Ser) rs1357977229
NM_019066.5(MAGEL2):c.353C>T (p.Pro118Leu) rs1131691985
NM_019066.5(MAGEL2):c.3633C>A (p.Ser1211Arg)
NM_019066.5(MAGEL2):c.3661G>A (p.Ala1221Thr) rs779840896
NM_019066.5(MAGEL2):c.3720C>A (p.His1240Gln)
NM_019066.5(MAGEL2):c.3727A>G (p.Thr1243Ala)
NM_019066.5(MAGEL2):c.451C>A (p.His151Asn)
NM_019066.5(MAGEL2):c.465G>A (p.Pro155=)
NM_019066.5(MAGEL2):c.48G>T (p.Glu16Asp) rs2140719597
NM_019066.5(MAGEL2):c.509_510delinsTG (p.Ala170Val) rs2140718561
NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del) rs779748148
NM_019066.5(MAGEL2):c.623C>A (p.Pro208Gln)
NM_019066.5(MAGEL2):c.626T>C (p.Met209Thr)
NM_019066.5(MAGEL2):c.843TCCAGG[1] (p.282PG[1])
NM_019066.5(MAGEL2):c.877G>A (p.Gly293Ser) rs983547801
NM_019066.5(MAGEL2):c.959C>T (p.Ala320Val)
NM_019066.5(MAGEL2):c.992C>T (p.Pro331Leu)

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