List of variants reported as uncertain significance for Deficiency of malonyl-CoA decarboxylase

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 189

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HGVS	dbSNP	gnomAD frequency
NM_012213.3(MLYCD):c.13G>A (p.Gly5Arg)	rs745604653	0.00064
NM_012213.3(MLYCD):c.1236C>T (p.Arg412=)	rs370278897	0.00055
NM_012213.3(MLYCD):c.1098C>T (p.Ile366=)	rs199549095	0.00048
NM_012213.3(MLYCD):c.*130G>T	rs551713915	0.00045
NM_012213.3(MLYCD):c.1074G>A (p.Ser358=)	rs377161125	0.00043
NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val)	rs375935118	0.00042
NM_012213.3(MLYCD):c.*286G>T	rs573672482	0.00039
NM_012213.3(MLYCD):c.*504C>A	rs534037213	0.00038
NM_012213.3(MLYCD):c.*82C>G	rs531927478	0.00038
NM_012213.3(MLYCD):c.1294C>T (p.Arg432Cys)	rs35124955	0.00032
NM_012213.3(MLYCD):c.*135A>G	rs571831745	0.00027
NM_012213.3(MLYCD):c.1328G>C (p.Gly443Ala)	rs200278015	0.00025
NM_012213.3(MLYCD):c.641+11C>T	rs200841672	0.00019
NM_012213.3(MLYCD):c.135C>T (p.Arg45=)	rs767969074	0.00018
NM_012213.3(MLYCD):c.1433A>G (p.Glu478Gly)	rs200078965	0.00015
NM_012213.3(MLYCD):c.892C>G (p.Leu298Val)	rs563907654	0.00013
NM_012213.3(MLYCD):c.787A>G (p.Ser263Gly)	rs570550620	0.00012
NM_012213.3(MLYCD):c.1335C>T (p.Thr445=)	rs373675093	0.00011
NM_012213.3(MLYCD):c.741G>T (p.Gly247=)	rs376948469	0.00011
NM_012213.3(MLYCD):c.641+3A>C	rs370078811	0.00010
NM_012213.3(MLYCD):c.577G>A (p.Gly193Arg)	rs369616872	0.00009
NM_012213.3(MLYCD):c.703A>G (p.Arg235Gly)	rs369427189	0.00009
NM_012213.3(MLYCD):c.446G>A (p.Gly149Asp)	rs773196234	0.00008
NM_012213.3(MLYCD):c.763G>A (p.Val255Met)	rs377566911	0.00008
NM_012213.3(MLYCD):c.*591G>A	rs764367632	0.00006
NM_012213.3(MLYCD):c.1097T>A (p.Ile366Asn)	rs376504760	0.00006
NM_012213.3(MLYCD):c.1174C>T (p.Arg392Trp)	rs530627828	0.00006
NM_012213.3(MLYCD):c.1295G>A (p.Arg432His)	rs201973830	0.00006
NM_012213.3(MLYCD):c.592G>A (p.Glu198Lys)	rs201780465	0.00006
NM_012213.3(MLYCD):c.901G>C (p.Val301Leu)	rs199656023	0.00006
NM_012213.3(MLYCD):c.1373T>C (p.Leu458Pro)	rs768566945	0.00005
NM_012213.3(MLYCD):c.497C>T (p.Ala166Val)	rs774598772	0.00005
NM_012213.3(MLYCD):c.637A>T (p.Ser213Cys)	rs552425982	0.00005
NM_012213.3(MLYCD):c.*391A>T	rs527889514	0.00004
NM_012213.3(MLYCD):c.1345G>A (p.Gly449Ser)	rs752955481	0.00004
NM_012213.3(MLYCD):c.515G>A (p.Gly172Glu)	rs891464883	0.00004
NM_012213.3(MLYCD):c.880A>G (p.Thr294Ala)	rs200365808	0.00004
NM_012213.3(MLYCD):c.887A>C (p.Gln296Pro)	rs199761233	0.00004
NM_012213.3(MLYCD):c.*213G>A	rs886052360	0.00003
NM_012213.3(MLYCD):c.*42C>T	rs768055540	0.00003
NM_012213.3(MLYCD):c.*653A>C	rs372689737	0.00003
NM_012213.3(MLYCD):c.1160C>G (p.Ser387Trp)	rs376324546	0.00003
NM_012213.3(MLYCD):c.1241A>G (p.Tyr414Cys)	rs368099850	0.00003
NM_012213.3(MLYCD):c.1255G>A (p.Val419Met)	rs773101554	0.00003
NM_012213.3(MLYCD):c.1336G>A (p.Gly446Ser)	rs377075332	0.00003
NM_012213.3(MLYCD):c.1344C>T (p.Cys448=)	rs534173407	0.00003
NM_012213.3(MLYCD):c.505C>T (p.Leu169=)	rs771885443	0.00003
NM_012213.3(MLYCD):c.64C>T (p.Pro22Ser)	rs915124487	0.00003
NM_012213.3(MLYCD):c.762C>T (p.His254=)	rs773274796	0.00003
NM_012213.3(MLYCD):c.1004C>A (p.Thr335Asn)	rs76060070	0.00002
NM_012213.3(MLYCD):c.1058A>C (p.Glu353Ala)	rs966540879	0.00002
NM_012213.3(MLYCD):c.1081A>G (p.Lys361Glu)	rs1287261177	0.00002
NM_012213.3(MLYCD):c.1276A>G (p.Asn426Asp)	rs771229830	0.00002
NM_012213.3(MLYCD):c.208G>A (p.Asp70Asn)	rs1336491665	0.00002
NM_012213.3(MLYCD):c.*304C>G	rs1212069217	0.00001
NM_012213.3(MLYCD):c.-11T>C	rs886052355	0.00001
NM_012213.3(MLYCD):c.1013T>C (p.Leu338Pro)	rs374073138	0.00001
NM_012213.3(MLYCD):c.1027A>T (p.Asn343Tyr)	rs1306974380	0.00001
NM_012213.3(MLYCD):c.1153G>A (p.Val385Met)	rs747617187	0.00001
NM_012213.3(MLYCD):c.1300A>G (p.Asn434Asp)	rs758793233	0.00001
NM_012213.3(MLYCD):c.1472G>T (p.Ser491Ile)	rs751002859	0.00001
NM_012213.3(MLYCD):c.355G>T (p.Ala119Ser)	rs779658559	0.00001
NM_012213.3(MLYCD):c.372G>T (p.Gln124His)	rs748979749	0.00001
NM_012213.3(MLYCD):c.463G>T (p.Val155Leu)	rs764848387	0.00001
NM_012213.3(MLYCD):c.482T>C (p.Leu161Pro)	rs780734812	0.00001
NM_012213.3(MLYCD):c.526C>T (p.Arg176Trp)	rs766257090	0.00001
NM_012213.3(MLYCD):c.553A>T (p.Met185Leu)	rs1212880594	0.00001
NM_012213.3(MLYCD):c.596G>A (p.Arg199Gln)	rs780910334	0.00001
NM_012213.3(MLYCD):c.613C>T (p.Pro205Ser)	rs759089126	0.00001
NM_012213.3(MLYCD):c.630G>C (p.Gln210His)	rs761614015	0.00001
NM_012213.3(MLYCD):c.691G>A (p.Val231Ile)	rs774892514	0.00001
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp)	rs121908081	0.00001
NM_012213.3(MLYCD):c.907C>A (p.Leu303Met)	rs766903457	0.00001
NM_012213.3(MLYCD):c.913A>G (p.Thr305Ala)	rs200745228	0.00001
NM_012213.3(MLYCD):c.997G>A (p.Gly333Ser)	rs746782812	0.00001
NM_012213.3(MLYCD):c.*218C>A	rs556228149
NM_012213.3(MLYCD):c.*220A>G	rs576158206
NM_012213.3(MLYCD):c.*281G>A	rs886052361
NM_012213.3(MLYCD):c.*382G>A	rs545195059
NM_012213.3(MLYCD):c.*430C>T	rs530020302
NM_012213.3(MLYCD):c.*437G>C	rs1325108986
NM_012213.3(MLYCD):c.*671C>A	rs74830340
NM_012213.3(MLYCD):c.1012C>G (p.Leu338Val)	rs1211916115
NM_012213.3(MLYCD):c.1031C>T (p.Ser344Leu)	rs1294536971
NM_012213.3(MLYCD):c.1039_1041del (p.Lys347del)
NM_012213.3(MLYCD):c.1047T>G (p.His349Gln)
NM_012213.3(MLYCD):c.104C>T (p.Ala35Val)
NM_012213.3(MLYCD):c.1073C>G (p.Ser358Trp)	rs200573073
NM_012213.3(MLYCD):c.1073C>T (p.Ser358Leu)
NM_012213.3(MLYCD):c.1077A>C (p.Glu359Asp)	rs2151060004
NM_012213.3(MLYCD):c.1106G>T (p.Gly369Val)	rs2151060022
NM_012213.3(MLYCD):c.1109C>A (p.Pro370His)	rs759839871
NM_012213.3(MLYCD):c.1129CTC[2] (p.Leu379del)
NM_012213.3(MLYCD):c.1139G>T (p.Ser380Ile)
NM_012213.3(MLYCD):c.1147G>C (p.Glu383Gln)
NM_012213.3(MLYCD):c.1158G>T (p.Gln386His)	rs1907329665
NM_012213.3(MLYCD):c.1160C>T (p.Ser387Leu)	rs376324546
NM_012213.3(MLYCD):c.1175G>A (p.Arg392Gln)	rs201576638
NM_012213.3(MLYCD):c.1178C>G (p.Ala393Gly)	rs200750439
NM_012213.3(MLYCD):c.1207G>T (p.Ala403Ser)
NM_012213.3(MLYCD):c.1237G>C (p.Gly413Arg)	rs374608119
NM_012213.3(MLYCD):c.123C>A (p.Asp41Glu)
NM_012213.3(MLYCD):c.1243G>A (p.Ala415Thr)	rs372255821
NM_012213.3(MLYCD):c.1277A>G (p.Asn426Ser)	rs777032506
NM_012213.3(MLYCD):c.1289T>C (p.Leu430Pro)
NM_012213.3(MLYCD):c.1334C>G (p.Thr445Ser)
NM_012213.3(MLYCD):c.134G>T (p.Arg45Leu)
NM_012213.3(MLYCD):c.1351A>G (p.Met451Val)	rs1567637203
NM_012213.3(MLYCD):c.1363C>T (p.Arg455Cys)
NM_012213.3(MLYCD):c.1364G>T (p.Arg455Leu)
NM_012213.3(MLYCD):c.1380G>C (p.Glu460Asp)	rs2151060214
NM_012213.3(MLYCD):c.1382C>G (p.Thr461Arg)
NM_012213.3(MLYCD):c.1396A>G (p.Thr466Ala)
NM_012213.3(MLYCD):c.1400C>G (p.Ser467Cys)
NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg)	rs200413924
NM_012213.3(MLYCD):c.1427C>T (p.Ala476Val)	rs1239750288
NM_012213.3(MLYCD):c.1448T>C (p.Leu483Pro)
NM_012213.3(MLYCD):c.1481dup (p.Ter494TrpextTer?)
NM_012213.3(MLYCD):c.14G>C (p.Gly5Ala)
NM_012213.3(MLYCD):c.160T>A (p.Tyr54Asn)
NM_012213.3(MLYCD):c.164A>T (p.Glu55Val)	rs1906688843
NM_012213.3(MLYCD):c.178A>G (p.Thr60Ala)	rs886052356
NM_012213.3(MLYCD):c.190G>A (p.Ala64Thr)	rs2151053170
NM_012213.3(MLYCD):c.193G>A (p.Glu65Lys)
NM_012213.3(MLYCD):c.197G>A (p.Gly66Asp)
NM_012213.3(MLYCD):c.213C>G (p.Phe71Leu)	rs780815688
NM_012213.3(MLYCD):c.219C>G (p.Ser73Arg)	rs1906691947
NM_012213.3(MLYCD):c.226G>A (p.Gly76Ser)	rs1238223514
NM_012213.3(MLYCD):c.226G>T (p.Gly76Cys)	rs1238223514
NM_012213.3(MLYCD):c.253G>A (p.Ala85Thr)
NM_012213.3(MLYCD):c.292G>A (p.Asp98Asn)	rs1906695424
NM_012213.3(MLYCD):c.315G>C (p.Gln105His)
NM_012213.3(MLYCD):c.322G>A (p.Gly108Ser)	rs1906696637
NM_012213.3(MLYCD):c.323G>T (p.Gly108Val)
NM_012213.3(MLYCD):c.32G>A (p.Arg11Lys)	rs774717448
NM_012213.3(MLYCD):c.383G>T (p.Arg128Leu)
NM_012213.3(MLYCD):c.394G>T (p.Ala132Ser)	rs775855312
NM_012213.3(MLYCD):c.404C>T (p.Pro135Leu)	rs767436209
NM_012213.3(MLYCD):c.416_417delinsTT (p.Gly139Val)	rs2151053320
NM_012213.3(MLYCD):c.41T>G (p.Leu14Arg)	rs956352614
NM_012213.3(MLYCD):c.445G>A (p.Gly149Ser)	rs767254883
NM_012213.3(MLYCD):c.467A>G (p.Gln156Arg)
NM_012213.3(MLYCD):c.468G>C (p.Gln156His)	rs886052357
NM_012213.3(MLYCD):c.470T>C (p.Leu157Pro)
NM_012213.3(MLYCD):c.473G>C (p.Arg158Pro)
NM_012213.3(MLYCD):c.475del (p.Ala159fs)	rs796051991
NM_012213.3(MLYCD):c.476C>T (p.Ala159Val)	rs1440583341
NM_012213.3(MLYCD):c.491C>G (p.Ala164Gly)	rs1044258796
NM_012213.3(MLYCD):c.495G>A (p.Gln165=)	rs1183339497
NM_012213.3(MLYCD):c.58C>T (p.Pro20Ser)	rs1292718330
NM_012213.3(MLYCD):c.620A>T (p.Glu207Val)	rs2151056698
NM_012213.3(MLYCD):c.622G>A (p.Val208Met)	rs1419499874
NM_012213.3(MLYCD):c.638G>T (p.Ser213Ile)
NM_012213.3(MLYCD):c.649G>A (p.Ala217Thr)
NM_012213.3(MLYCD):c.658C>T (p.Pro220Ser)	rs1295250260
NM_012213.3(MLYCD):c.675G>A (p.Met225Ile)
NM_012213.3(MLYCD):c.722C>G (p.Ser241Cys)
NM_012213.3(MLYCD):c.726C>G (p.His242Gln)
NM_012213.3(MLYCD):c.734C>G (p.Thr245Ser)	rs886052358
NM_012213.3(MLYCD):c.73C>A (p.Pro25Thr)
NM_012213.3(MLYCD):c.744G>C (p.Glu248Asp)	rs202012613
NM_012213.3(MLYCD):c.744G>T (p.Glu248Asp)
NM_012213.3(MLYCD):c.748C>G (p.Leu250Val)	rs762362836
NM_012213.3(MLYCD):c.754G>A (p.Val252Ile)	rs1555538351
NM_012213.3(MLYCD):c.76C>T (p.Arg26Trp)
NM_012213.3(MLYCD):c.793A>G (p.Ile265Val)
NM_012213.3(MLYCD):c.798+17A>G
NM_012213.3(MLYCD):c.7G>A (p.Gly3Ser)
NM_012213.3(MLYCD):c.802A>T (p.Ile268Phe)
NM_012213.3(MLYCD):c.805G>A (p.Val269Met)
NM_012213.3(MLYCD):c.814C>T (p.His272Tyr)	rs112428248
NM_012213.3(MLYCD):c.826G>C (p.Glu276Gln)
NM_012213.3(MLYCD):c.830C>T (p.Thr277Ile)
NM_012213.3(MLYCD):c.837GAA[1] (p.Lys280del)
NM_012213.3(MLYCD):c.843C>G (p.Asn281Lys)
NM_012213.3(MLYCD):c.859A>G (p.Ile287Val)
NM_012213.3(MLYCD):c.85A>C (p.Ser29Arg)
NM_012213.3(MLYCD):c.862T>C (p.Phe288Leu)
NM_012213.3(MLYCD):c.869C>T (p.Ser290Phe)
NM_012213.3(MLYCD):c.875G>A (p.Ser292Asn)	rs139159660
NM_012213.3(MLYCD):c.8G>T (p.Gly3Val)	rs121908081
NM_012213.3(MLYCD):c.904G>A (p.Glu302Lys)
NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln)	rs146465073
NM_012213.3(MLYCD):c.929G>C (p.Arg310Pro)	rs146465073
NM_012213.3(MLYCD):c.934G>A (p.Val312Ile)
NM_012213.3(MLYCD):c.942G>T (p.Glu314Asp)
NM_012213.3(MLYCD):c.984G>T (p.Leu328=)	rs765416276
NM_012213.3(MLYCD):c.998G>T (p.Gly333Val)	rs886052359
NM_012213.3(MLYCD):c.[130G>T;220A>G286G>T504C>A*82C>G]

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