ClinVar Miner

List of variants reported as likely pathogenic for Carnitine palmitoyltransferase II deficiency, infantile

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Total variants: 48
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HGVS dbSNP
NM_000098.3(CPT2):c.1021_1024delinsTTG (p.Asn341fs) rs1553169720
NM_000098.3(CPT2):c.102C>G (p.Tyr34Ter) rs1317793581
NM_000098.3(CPT2):c.1046_1047del (p.Asn349fs) rs1553169726
NM_000098.3(CPT2):c.1046dup (p.Asn349fs) rs1057517515
NM_000098.3(CPT2):c.1053G>A (p.Trp351Ter) rs761438840
NM_000098.3(CPT2):c.108_109GC[3] (p.Ser38fs) rs754363068
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295
NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter) rs1057517492
NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter) rs1057517525
NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter) rs755395180
NM_000098.3(CPT2):c.1359_1362del (p.Lys453fs) rs1057517507
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329
NM_000098.3(CPT2):c.1375C>T (p.Gln459Ter) rs1553169771
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565
NM_000098.3(CPT2):c.1432C>T (p.Gln478Ter) rs1469108369
NM_000098.3(CPT2):c.1446_1447del (p.Val483fs) rs1553169787
NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs) rs1057517477
NM_000098.3(CPT2):c.1563del (p.Arg522fs) rs1229197873
NM_000098.3(CPT2):c.1608dup (p.Lys537fs) rs1553169813
NM_000098.3(CPT2):c.1614C>A (p.Tyr538Ter) rs1057517517
NM_000098.3(CPT2):c.1645+2T>G rs1057517473
NM_000098.3(CPT2):c.1767del (p.Ser590fs) rs1553169973
NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs) rs767004984
NM_000098.3(CPT2):c.1859G>A (p.Trp620Ter) rs1553170005
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer) rs1553170029
NM_000098.3(CPT2):c.1933dup (p.Glu645fs) rs1553170033
NM_000098.3(CPT2):c.302del (p.Ala101fs) rs1553169106
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226
NM_000098.3(CPT2):c.38del (p.Gly13fs) rs786204647
NM_000098.3(CPT2):c.401_404del (p.Phe134fs) rs1553169598
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674
NM_000098.3(CPT2):c.520G>T (p.Glu174Ter) rs28936674
NM_000098.3(CPT2):c.54_72dup (p.Leu25fs) rs1057517510
NM_000098.3(CPT2):c.606T>A (p.Tyr202Ter) rs755830520
NM_000098.3(CPT2):c.606T>G (p.Tyr202Ter) rs755830520
NM_000098.3(CPT2):c.627_630dup (p.Pro211fs) rs1553169629
NM_000098.3(CPT2):c.670del (p.Thr224fs) rs762366252
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298
NM_000098.3(CPT2):c.725del (p.His242fs) rs1553169666
NM_000098.3(CPT2):c.72_97del (p.Leu25fs) rs1553168850
NM_000098.3(CPT2):c.748_749del (p.Asn250fs) rs1187631754
NM_000098.3(CPT2):c.75del (p.Ser26fs) rs1057517493
NM_000098.3(CPT2):c.879_880del (p.Ser293fs) rs1195259425
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887
NM_000098.3(CPT2):c.95del (p.Gly32fs) rs1057517494
NM_000098.3(CPT2):c.989dup (p.Ile332fs) rs1553169716

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