ClinVar Miner

List of variants studied for Pelizaeus-Merzbacher disease

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ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24238
NM_000533.5(PLP1):c.622+28C>G rs16984053 0.01887
NM_000533.5(PLP1):c.-31C>T rs2233695 0.00152
NC_000023.11:g.(103477300_103776506)_(104039333_104817980)dup
NC_000023.11:g.(?_103776506)_(103799000_104817980)del
NC_000023.11:g.(?_103776942)_(103790556_?)dup
NM_000533.5(PLP1):c.103T>C (p.Cys35Arg)
NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr) rs1569427275
NM_000533.5(PLP1):c.105T>A (p.Cys35Ter)
NM_000533.5(PLP1):c.110A>C (p.His37Pro)
NM_000533.5(PLP1):c.113_115del (p.Glu38del)
NM_000533.5(PLP1):c.119T>A (p.Leu40His)
NM_000533.5(PLP1):c.121A>C (p.Thr41Pro)
NM_000533.5(PLP1):c.125G>A (p.Gly42Asp)
NM_000533.5(PLP1):c.128C>T (p.Thr43Ile) rs132630289
NM_000533.5(PLP1):c.137T>C (p.Leu46Pro)
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) rs1060500909
NM_000533.5(PLP1):c.151T>G (p.Phe51Val)
NM_000533.5(PLP1):c.166C>T (p.Gln56Ter) rs1569427311
NM_000533.5(PLP1):c.169G>T (p.Asp57Tyr) rs132630296
NM_000533.5(PLP1):c.173A>G (p.Tyr58Cys) rs2074490307
NM_000533.5(PLP1):c.175G>T (p.Glu59Ter) rs1060499653
NM_000533.5(PLP1):c.191+4A>G
NM_000533.5(PLP1):c.191+6T>C
NM_000533.5(PLP1):c.192-2A>C
NM_000533.5(PLP1):c.192-2A>G
NM_000533.5(PLP1):c.1A>G (p.Met1Val) rs797045064
NM_000533.5(PLP1):c.206A>T (p.Gln69Leu)
NM_000533.5(PLP1):c.212T>A (p.Val71Asp)
NM_000533.5(PLP1):c.21T>A (p.Cys7Ter) rs1038021317
NM_000533.5(PLP1):c.220G>A (p.Gly74Arg) rs132630285
NM_000533.5(PLP1):c.221G>A (p.Gly74Glu)
NM_000533.5(PLP1):c.223A>C (p.Thr75Pro)
NM_000533.5(PLP1):c.226G>C (p.Ala76Pro) rs2147764222
NM_000533.5(PLP1):c.226_231dup (p.Ser77_Phe78insAlaSer)
NM_000533.5(PLP1):c.230C>A (p.Ser77Tyr)
NM_000533.5(PLP1):c.232TTC[2] (p.Phe80del) rs2074497991
NM_000533.5(PLP1):c.242T>G (p.Leu81Arg)
NM_000533.5(PLP1):c.254T>G (p.Leu85Arg)
NM_000533.5(PLP1):c.254dup (p.Leu86fs)
NM_000533.5(PLP1):c.260T>C (p.Leu87Pro)
NM_000533.5(PLP1):c.282del (p.Gly95fs)
NM_000533.5(PLP1):c.286G>A (p.Ala96Thr)
NM_000533.5(PLP1):c.295C>T (p.Gln99Ter) rs1602382829
NM_000533.5(PLP1):c.2T>A (p.Met1Lys)
NM_000533.5(PLP1):c.2T>G (p.Met1Arg) rs864622194
NM_000533.5(PLP1):c.347C>A (p.Thr116Lys)
NM_000533.5(PLP1):c.354_355del (p.Gly120fs) rs1556267123
NM_000533.5(PLP1):c.359del (p.Gly120fs)
NM_000533.5(PLP1):c.377C>T (p.Ser126Phe)
NM_000533.5(PLP1):c.378C>T (p.Ser126=)
NM_000533.5(PLP1):c.380_392del (p.Arg127fs)
NM_000533.5(PLP1):c.384C>T (p.Gly128=)
NM_000533.5(PLP1):c.384_393del (p.Gln129fs) rs1556267215
NM_000533.5(PLP1):c.385C>T (p.Gln129Ter)
NM_000533.5(PLP1):c.4+1del rs1602373055
NM_000533.5(PLP1):c.4+5G>A
NM_000533.5(PLP1):c.406_422del (p.Glu136fs)
NM_000533.5(PLP1):c.409C>G (p.Arg137Gly)
NM_000533.5(PLP1):c.409C>T (p.Arg137Trp) rs132630295
NM_000533.5(PLP1):c.410G>A (p.Arg137Gln)
NM_000533.5(PLP1):c.412del (p.Val138fs)
NM_000533.5(PLP1):c.418C>T (p.His140Tyr) rs132630287
NM_000533.5(PLP1):c.425dup (p.Leu142fs)
NM_000533.5(PLP1):c.430A>T (p.Lys144Ter)
NM_000533.5(PLP1):c.434G>A (p.Trp145Ter) rs132630292
NM_000533.5(PLP1):c.436C>T (p.Leu146=) rs2147764616
NM_000533.5(PLP1):c.441A>T (p.Gly147=) rs1602383021
NM_000533.5(PLP1):c.442C>T (p.His148Tyr) rs2147764634
NM_000533.5(PLP1):c.446C>T (p.Pro149Leu)
NM_000533.5(PLP1):c.44C>T (p.Pro15Leu) rs11543022
NM_000533.5(PLP1):c.453+159G>A rs1602383261
NM_000533.5(PLP1):c.453+164G>A rs1602383268
NM_000533.5(PLP1):c.453+28_453+46del
NM_000533.5(PLP1):c.453+2T>C rs1556267388
NM_000533.5(PLP1):c.453+4A>G rs1569427707
NM_000533.5(PLP1):c.453+7A>G
NM_000533.5(PLP1):c.453G>A (p.Lys151=) rs886044450
NM_000533.5(PLP1):c.453G>T (p.Lys151Asn)
NM_000533.5(PLP1):c.454-1G>A
NM_000533.5(PLP1):c.454-1G>T
NM_000533.5(PLP1):c.454-20C>A rs1328774826
NM_000533.5(PLP1):c.454-2A>G
NM_000533.5(PLP1):c.454-312C>G rs1602383723
NM_000533.5(PLP1):c.454-314T>A
NM_000533.5(PLP1):c.458del (p.Val153fs)
NM_000533.5(PLP1):c.467C>T (p.Thr156Ile) rs132630280
NM_000533.5(PLP1):c.476T>C (p.Leu159Pro)
NM_000533.5(PLP1):c.487T>C (p.Trp163Arg) rs132630279
NM_000533.5(PLP1):c.49G>A (p.Ala17Thr) rs797045890
NM_000533.5(PLP1):c.505T>C (p.Cys169Arg)
NM_000533.5(PLP1):c.517C>T (p.Pro173Ser)
NM_000533.5(PLP1):c.518C>G (p.Pro173Arg) rs1556269029
NM_000533.5(PLP1):c.51_54del (p.Ser18fs)
NM_000533.5(PLP1):c.543G>C (p.Trp181Cys) rs2147766040
NM_000533.5(PLP1):c.544A>C (p.Thr182Pro) rs132630282
NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr) rs1602384238
NM_000533.5(PLP1):c.554_564del (p.Gln185fs)
NM_000533.5(PLP1):c.560T>C (p.Ile187Thr) rs132630288
NM_000533.5(PLP1):c.56T>C (p.Leu19Pro)
NM_000533.5(PLP1):c.584C>A (p.Ala195Asp)
NM_000533.5(PLP1):c.607G>A (p.Asp203Asn) rs132630284
NM_000533.5(PLP1):c.607G>C (p.Asp203His) rs132630284
NM_000533.5(PLP1):c.613del (p.Arg205fs)
NM_000533.5(PLP1):c.617T>G (p.Met206Arg) rs1556269487
NM_000533.5(PLP1):c.619T>A (p.Tyr207Asn)
NM_000533.5(PLP1):c.619T>C (p.Tyr207His)
NM_000533.5(PLP1):c.623-2A>C
NM_000533.5(PLP1):c.628C>T (p.Leu210Phe)
NM_000533.5(PLP1):c.634T>C (p.Trp212Arg) rs2147766937
NM_000533.5(PLP1):c.644del (p.Phe215fs)
NM_000533.5(PLP1):c.646C>T (p.Pro216Ser) rs132630278
NM_000533.5(PLP1):c.647C>T (p.Pro216Leu) rs2147766958
NM_000533.5(PLP1):c.655G>T (p.Val219Phe) rs132630281
NM_000533.5(PLP1):c.656T>G (p.Val219Gly)
NM_000533.5(PLP1):c.658T>C (p.Cys220Arg)
NM_000533.5(PLP1):c.658T>G (p.Cys220Gly) rs1556270312
NM_000533.5(PLP1):c.665C>G (p.Ser222Cys) rs2147766999
NM_000533.5(PLP1):c.671T>C (p.Leu224Pro) rs132630283
NM_000533.5(PLP1):c.676T>C (p.Ser226Pro)
NM_000533.5(PLP1):c.694G>A (p.Glu232Lys)
NM_000533.5(PLP1):c.696+1G>A rs113897548
NM_000533.5(PLP1):c.697-2A>C
NM_000533.5(PLP1):c.697-3C>A
NM_000533.5(PLP1):c.697-54_711delinsTTTATT
NM_000533.5(PLP1):c.709T>G (p.Phe237Val) rs1602385663
NM_000533.5(PLP1):c.710T>C (p.Phe237Ser) rs132630291
NM_000533.5(PLP1):c.728C>A (p.Ala243Glu)
NM_000533.5(PLP1):c.728C>T (p.Ala243Val)
NM_000533.5(PLP1):c.730T>G (p.Phe244Val)
NM_000533.5(PLP1):c.736G>T (p.Gly246Trp)
NM_000533.5(PLP1):c.737G>C (p.Gly246Ala) rs398123467
NM_000533.5(PLP1):c.743C>A (p.Ala248Glu) rs917348091
NM_000533.5(PLP1):c.74G>T (p.Cys25Phe) rs2147762985
NM_000533.5(PLP1):c.752T>C (p.Leu251Pro)
NM_000533.5(PLP1):c.754del (p.Val252fs)
NM_000533.5(PLP1):c.758C>T (p.Ser253Phe)
NM_000533.5(PLP1):c.761T>C (p.Leu254Pro)
NM_000533.5(PLP1):c.762+1G>A rs2147768084
NM_000533.5(PLP1):c.762+3G>T rs1569428537
NM_000533.5(PLP1):c.762G>A (p.Leu254=)
NM_000533.5(PLP1):c.763-1G>T
NM_000533.5(PLP1):c.817C>T (p.Arg273Ter) rs1556273167
NM_000533.5(PLP1):c.834A>G (p.Ter278Trp)
NM_000533.5(PLP1):c.834A>T (p.Ter278Cys)
NM_000533.5(PLP1):c.83G>A (p.Gly28Glu)
NM_000533.5(PLP1):c.92T>G (p.Leu31Arg)
NM_000533.5(PLP1):c.94T>C (p.Phe32Leu)
NM_000533.5(PLP1):c.98G>T (p.Cys33Phe) rs1064794255
NM_020435.4(GJC2):c.591dup (p.His198fs) rs1455411788
Single allele

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