ClinVar Miner

List of variants reported as likely pathogenic for Propionyl-CoA carboxylase deficiency

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ClinVar version:
Total variants: 84
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HGVS dbSNP
NC_000013.11:g.(?_100301460)_(100425731_?)del
NM_000282.3(PCCA):c.1209+3A>G rs1467680142
NM_000282.3(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896
NM_000282.3(PCCA):c.1284+1G>A rs752761437
NM_000282.3(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.3(PCCA):c.1540+1G>C rs199604072
NM_000282.3(PCCA):c.1540+2T>A rs1555422449
NM_000282.3(PCCA):c.1747-1G>C rs879253803
NM_000282.3(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.3(PCCA):c.183+2T>C rs1555342593
NM_000282.3(PCCA):c.1846-1G>A rs1555298451
NM_000282.3(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272
NM_000282.3(PCCA):c.1891G>C (p.Gly631Arg) rs796052018
NM_000282.3(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.3(PCCA):c.2027delA (p.Lys676Serfs) rs1555327702
NM_000282.3(PCCA):c.2040+1G>T rs1555327732
NM_000282.3(PCCA):c.2041-2A>G rs776281864
NM_000282.3(PCCA):c.2056G>T (p.Glu686Ter) rs1241896966
NM_000282.3(PCCA):c.2103delT (p.Thr704Leufs) rs1555331314
NM_000282.3(PCCA):c.2119-9A>G rs1389933015
NM_000282.3(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.3(PCCA):c.2dup (p.Met1Ilefs) rs1179536678
NM_000282.3(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.3(PCCA):c.440delC (p.Ser147Terfs) rs1555361758
NM_000282.3(PCCA):c.69_78del10 (p.Gln23Hisfs) rs781030239
NM_000282.3(PCCA):c.722delG (p.Gly241Valfs) rs745571507
NM_000282.3(PCCA):c.775_779delCTAAT (p.Leu259Argfs) rs794726976
NM_000282.3(PCCA):c.843delT (p.Asn281Lysfs) rs1555400381
NM_000282.3(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.3(PCCA):c.915-1G>C rs367615795
NM_000282.4(PCCA):c.1066G>C (p.Val356Leu)
NM_000282.4(PCCA):c.1075_1077del (p.Pro359del)
NM_000282.4(PCCA):c.2077A>T (p.Met693Leu)
NM_000282.4(PCCA):c.2159_2162dup (p.Asp722Argfs)
NM_000282.4(PCCA):c.524G>A (p.Gly175Asp)
NM_000282.4(PCCA):c.683G>T (p.Gly228Val)
NM_000282.4(PCCA):c.803G>T (p.Arg268Leu)
NM_000282.4(PCCA):c.869G>A (p.Cys290Tyr)
NM_000282.4(PCCA):c.872C>T (p.Ser291Leu)
NM_000532.4(PCCB):c.1090+2T>C rs1553782779
NM_000532.4(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.4(PCCB):c.1260dup (p.Glu421Terfs) rs1553784569
NM_000532.4(PCCB):c.1300-2A>C rs1553784684
NM_000532.4(PCCB):c.1301C>T (p.Ala434Val) rs751538672
NM_000532.4(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.4(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436
NM_000532.4(PCCB):c.1379_1385del7 (p.Ile460Thrfs) rs1553784721
NM_000532.4(PCCB):c.1398+1G>T rs794727092
NM_000532.4(PCCB):c.1429G>T (p.Glu477Ter) rs1553784921
NM_000532.4(PCCB):c.14T>G (p.Leu5Ter) rs1292452485
NM_000532.4(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.4(PCCB):c.1606A>G (p.Asn536Asp) rs202247823
NM_000532.4(PCCB):c.184-1G>A rs886044246
NM_000532.4(PCCB):c.184-2A>G rs1553774015
NM_000532.4(PCCB):c.196delG (p.Ala66Profs) rs1553774018
NM_000532.4(PCCB):c.331C>T (p.Arg111Ter) rs753981900
NM_000532.4(PCCB):c.372+2T>C rs879253814
NM_000532.4(PCCB):c.429+1G>A rs1317017233
NM_000532.4(PCCB):c.487_488dup (p.Ala164Glufs) rs1553774884
NM_000532.4(PCCB):c.493C>T (p.Arg165Trp) rs879253815
NM_000532.4(PCCB):c.494G>A (p.Arg165Gln) rs1304714042
NM_000532.4(PCCB):c.502G>A (p.Glu168Lys) rs121964960
NM_000532.4(PCCB):c.517_518delTT (p.Leu173Glyfs) rs755776820
NM_000532.4(PCCB):c.544-2A>G rs752377212
NM_000532.4(PCCB):c.553dup (p.Thr185Asnfs) rs777455573
NM_000532.4(PCCB):c.562G>A (p.Gly188Arg) rs746102997
NM_000532.4(PCCB):c.601_602insGG (p.Ala201Glyfs) rs1553777571
NM_000532.4(PCCB):c.654+1G>C rs1553777590
NM_000532.4(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000532.4(PCCB):c.763+1G>A rs1553778912
NM_000532.4(PCCB):c.763+2T>A rs1553778914
NM_000532.4(PCCB):c.838dup (p.Leu280Profs) rs769968548
NM_000532.4(PCCB):c.884+1G>C rs1553779458
NM_000532.4(PCCB):c.885-2A>G rs1553780163
NM_000532.4(PCCB):c.942C>A (p.Tyr314Ter) rs572246667
NM_000532.4(PCCB):c.967-2A>C rs1553782747
NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser)
NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe)
NM_000532.5(PCCB):c.1373C>T (p.Ala458Val)
NM_000532.5(PCCB):c.365T>C (p.Phe122Ser)
NM_000532.5(PCCB):c.410A>G (p.His137Arg)
NM_000532.5(PCCB):c.703A>C (p.Thr235Pro)
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
NM_000532.5(PCCB):c.800C>A (p.Ala267Asp)

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