Sugi Variant

Sugi Variant/CPT1A

CPT1A — 1090 ClinVar variants

All ClinVar germline CPT1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 285 flagged for review →

56 Pathogenic · 24 Pathogenic/Likely pathogenic · 94 Likely pathogenic · 28 Conflicting · 56 Benign · 8 Benign/Likely benign · 532 Likely benign · 292 Uncertain significance

Full CPT1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 285

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 16

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 132

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 136

The independent predictors disagree with each other — read with care.

All CPT1A variants

Pathogenic 56

  • c.281+1G>A Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Arg160Ter Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Arg245Ter Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Arg339Ter Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Gln100Ter Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Glu525fs Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Gly710Glu Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.1164-2A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1876-1G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg365fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asn404fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asn511fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Cys613Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Gln188fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Gln406Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Gln688Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Gln691Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Glu196fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Glu26Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Glu599fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.His642fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ile156fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ile51fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ile558fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Leu223Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Leu248fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Leu347fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Leu540fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Leu632Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Leu684fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Lys180fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Lys41fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Met619fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Phe554fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Pro177fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Pro479fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ser34fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Thr182fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Trp308Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Trp391Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Tyr239Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Tyr498fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Tyr514Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Tyr55Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Tyr666Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Tyr74Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Val183fs Single submitter
  • p.Val336Glu Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Val570fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Val662fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1575+533_1575+534del No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.(?_1744 No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • p.Asp454Gly No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • p.Glu360Gly No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • p.Gly709Glu No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • p.Ile317fs No assertion criteria carnitine palmitoyl transferase 1A deficiency

Pathogenic/Likely pathogenic 24

  • c.1163+1G>A Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.1163+2T>C Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.693+1G>A Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Ala414Val Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Arg243Ter Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Arg447Ter Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Arg598Ter Multiple submitters Inborn genetic diseases
  • p.Gln188Ter Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Glu197Ter Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Glu531fs Multiple submitters CPT1A-related disorder
  • p.Glu627Ter Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Leu444fs Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Lys455Thr Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Met1Arg Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Phe462fs Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Pro247Leu Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Pro479Leu Multiple submitters Inborn genetic diseases
  • p.Pro56Leu Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Pro672_Phe673insTer Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Ser456Ter Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Trp135Ter Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Trp219Ter Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Trp235Ter Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Tyr589Ter Multiple submitters carnitine palmitoyl transferase 1A deficiency

Likely pathogenic 94

  • c.1459-1G>A Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.1575+1G>T Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.2028+2T>G Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.771+1G>A Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.771+1G>C Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Arg357Trp Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg395Pro Multiple submitters Inborn genetic diseases
  • p.Gly465Arg Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Gly465Glu Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Thr314Ile Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Tyr449Ter Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.1352+1G>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1575+1G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1576-2A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1576-9_1587del Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1740+1G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1740+1G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1741-1G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2028+1G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2029-1G>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2142+2T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.281+1G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.453+1dup Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.453+1G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.453+2T>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.694-2A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.967+1G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.967+2T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.968-1G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg316Gln Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg595Trp Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg683Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Cys659Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Gln207Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Gln571Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Gln628fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Gln6Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Glu139fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Glu372fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Glu377fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Glu412Lys Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Glu525Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Gly111fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Gly340Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Gly710Arg Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Leu281_Tyr282insTer Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Leu353fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Leu469fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Leu574fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Leu754dup Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Leu81Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Lys161fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Lys405Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Lys42fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Lys455Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Lys639fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Lys665fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Phe167fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Phe209fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Phe569fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Phe712fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Phe734Ser Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Pro162fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Pro672fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Pro681fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ser34Phe Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser456Leu Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ser612Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ser687Arg Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Thr121fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Thr564fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Thr610fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Trp150fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Trp150Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Trp235fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Trp346Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Trp39Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Trp62Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Tyr231fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Tyr261Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Tyr337Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Tyr498Cys Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Tyr724Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Val120fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Val620fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1348_1352+4del No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.1458+1G>A No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.1876-1G>C No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.282-1G>A No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.693+1G>C No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.693+1G>T No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.772-1G>A No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.772-2A>G No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • p.Gln307Ter No assertion criteria carnitine palmitoyl transferase 1A deficiency

Conflicting classifications of pathogenicity 28

  • c.1576-11T>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2235+4T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg123Cys Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg145His Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg22Gln Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg316Trp Single submitter ⚠
  • p.Arg447Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg89Gln Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Asn733Ser Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Asp614Asn Single submitter Inborn genetic diseases ⚠
  • p.Gln364= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Glu139Asp Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Glu321Lys Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gly212Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly49Ser Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.His483Gln Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ile653Thr Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Lys200Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys285Gln Single submitter Inborn genetic diseases ⚠
  • p.Phe343Val Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro714= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ser106Asn Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser34Pro Single submitter CPT1A-related disorder ⚠
  • p.Ser533Pro Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Tyr165= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Val179Ile Single submitter Inborn genetic diseases ⚠
  • p.Val481Met Single submitter Inborn genetic diseases ⚠
  • p.Val54Leu Single submitter Inborn genetic diseases ⚠

Benign 56

Benign/Likely benign 8

  • c.142-16G>A Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.1575+8C>T Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.2142+8C>T Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.453+9G>A Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Ala275Thr Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Arg288Gln Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Thr101Met Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Thr112= Multiple submitters carnitine palmitoyl transferase 1A deficiency

Likely benign 532

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1163+5G>A Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.1352+14C>A Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.1353-4G>A Multiple submitters Inborn genetic diseases
  • c.2142+9G>A Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.282-14G>A Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.694-10C>T Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.694-9G>A Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.771+13G>A Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.771+17G>C Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.772-33A>G Multiple submitters
  • c.967+11C>G Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.967+37G>T Multiple submitters
  • c.*68A>G Multiple submitters
  • p.Ala573= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Arg617Gln Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Asn464= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Asn48= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Glu590= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Gly506= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Ile119= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Ile64= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Leu164= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Leu754= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Pro175= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Pro247= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Thr169= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Thr434= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Thr604= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Tyr487= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Tyr661= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Val616= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.1163+12A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1163+18C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1163+20T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1163+8G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1164-121A>T Single submitter
  • c.1164-13A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1164-20G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1164-36C>G Single submitter
  • c.1352+10T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1352+13C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1352+14C>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1352+254C>A Single submitter
  • c.1353-13G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1353-15G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1353-15G>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1353-15GT[2] Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1353-16T>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1353-17_1353-16del Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1353-20C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1353-27A>C Single submitter
  • c.1353-4G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1353-5C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1353-8T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.141+10G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.141+13T>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.141+17T>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.142-12G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.142-13T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.142-13T>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.142-14G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.142-14G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.142-15G>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.142-17C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.142-18C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.142-20G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1458+17T>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1458+17T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1458+19C>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1458+20A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1458+8T>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1458+9T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1459-4A>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1459-5G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1459-6dup Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1575+10G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1575+13T>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1575+14A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1575+16C>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1575+19A>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1575+9G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1576-12C>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1576-19T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1576-20T>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1576-6C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1576-8C>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1576-8C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1576-9TC[4] Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1740+10G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1740+12C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1740+13C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1740+14G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1740+15C>T Single submitter
  • c.1740+19G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1740+19G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1740+20G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1740+8C>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1740+9T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1741-12C>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1741-15C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1741-4C>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1741-4C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1741-5C>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1741-8T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1875+10C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1875+11A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1875+12T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1875+13C>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1875+18T>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1875+19G>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1875+6G>A Single submitter
  • c.1875+9C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1876-10T>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1876-17C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1876-19C>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1876-6A>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1876-9del Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2028+11T>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2028+19_2028+21del Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2028+19T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2028+7C>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2028+9C>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2028+9C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2029-10C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2029-11del Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2029-14G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2029-14G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2029-16C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2029-7T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2029-8C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2029-9A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2142+11C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2142+12G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2142+19G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2142+7G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2142+8C>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2143-12C>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2143-4C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2143-6C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2143-87G>A Single submitter
  • c.2235+14G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2235+14G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2235+15A>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2235+16A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2235+178A>G Single submitter
  • c.2235+20C>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2235+8T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2235+9G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2236-10T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2236-11T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2236-14T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2236-14T>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2236-16_2236-10dup Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2236-16T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2236-7A>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.2236-7A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.281+13G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.281+7A>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.281+8A>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.282-10G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.282-10G>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.282-14G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.282-6C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.453+18T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.453+20G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.453+7G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.453+9G>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.454-10C>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.454-10C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.454-12C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.454-12CT[3] Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.454-14T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.454-16A>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.454-5T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.454-6C>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.454-6C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.454-71G>A Single submitter
  • c.454-7T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.555+155del Single submitter
  • c.555+156C>T Single submitter
  • c.555+9G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.556-18T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.556-4C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.556-5C>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.556-7A>T Single submitter
  • c.693+10T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.693+11A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.693+14C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.693+15A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.693+16C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.693+259A>T Single submitter
  • c.693+7C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.693+9G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.693+9G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.694-15G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.694-17G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.694-193C>A Single submitter
  • c.694-20C>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.694-4C>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.694-5A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.694-6C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.694-8C>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.771+10C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.771+12C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.771+12del Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.771+15C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.771+16C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.771+17G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.771+18G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.771+19G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.771+20C>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.771+20C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.771+31C>T Single submitter
  • c.771+8C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.771+9A>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.772-10C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.772-12G>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.772-20C>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.772-289A>G Single submitter
  • c.772-4T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.772-7T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.772-8C>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.772-8C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.772-9G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.772-9G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.879+10C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.879+17C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.880-15A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.880-16T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.880-17A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.880-19A>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.880-233T>C Single submitter
  • c.880-9T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.967+10G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.967+10G>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.967+13T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.967+20G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.967+9A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.968-11G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.968-12C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.968-18A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.968-4T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.968-5C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.968-9C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.-49T>C Single submitter
  • c.-49TGCCGC[1] Single submitter
  • c.-49TGCCGC[2] Single submitter
  • c.-49TGCCGC[4] Single submitter
  • c.-49TGCCGC[5] Single submitter
  • c.-70CGC[8] Single submitter
  • c.-70CGC[9] Single submitter
  • p.Ala178= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala204= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala256= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala272= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala278= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala397Thr Single submitter Inborn genetic diseases
  • p.Ala415= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala440= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala471= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala478= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala499= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala568= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala57= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala577= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala618= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala623= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala647= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala716= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala757= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg173= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg185= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg191= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg201= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg243= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg283= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg310= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg352= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg379= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg428= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg595= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg606= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg617= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Arg683= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asn103= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asn251= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asn253= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asn274= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asn470= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asn509Ser Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Asn538= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asn701= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asn730= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asn95= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asp17= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asp323= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asp330= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asp350= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asp368= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Asp409= Single submitter carnitine palmitoyl transferase 1A deficiency

Uncertain significance 292

  • c.1352+6G>A Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.1875+5T>C Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • c.2029-3T>C Multiple submitters Inborn genetic diseases
  • c.2142+6T>C Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Ala478Val Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ala499Val Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ala568Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala75Thr Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg145Gly Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg160Gln Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg173Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg201Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg284His Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg288Trp Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg295Cys Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg295His Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg310Trp Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg316Gly Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg401Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg595Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg598Gln Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg89Trp Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Asn770Ser Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Asn88Ser Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Asp387Val Multiple submitters Inborn genetic diseases ⚠
  • p.Asp654Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Glu425del Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Gly113Ser Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gly141Ser Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gly298Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly600Ala Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.His656Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Ile19Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile530Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile83Val Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Leu469Phe Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Leu574Phe Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Met136Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met153Val Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Met489Ile Multiple submitters ⚠
  • p.Pro16Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro59Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser371Leu Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser708Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser737Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Ser80Leu Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Thr147Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr745= Multiple submitters carnitine palmitoyl transferase 1A deficiency
  • p.Thr93Met Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Trp39Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr487Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Val389Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val54Met Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Val552Ile Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Val605Met Multiple submitters carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Val626Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val65Ala Multiple submitters ⚠
  • p.Val662Met Multiple submitters Inborn genetic diseases ⚠
  • c.1163+4C>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1163+5G>T Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.1352+5C>A Single submitter
  • c.141+6C>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.454-2A>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.555+6T>C Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.968-11G>A Single submitter carnitine palmitoyl transferase 1A deficiency
  • c.968-3C>G Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Ala228Gly Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ala256Val Single submitter Inborn genetic diseases ⚠
  • p.Ala272Thr Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ala306Thr Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ala306Val Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ala385Thr Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ala471Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala541Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala553Val Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ala636Val Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ala647Thr Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ala668Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala94Val Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg123His Single submitter Inborn genetic diseases ⚠
  • p.Arg145Cys Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg201Trp Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg243Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg245Gln Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg271Gly Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg284Leu Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg310Gln Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg329Lys Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg352Trp Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg357Gln Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg388Lys Single submitter ⚠
  • p.Arg395Cys Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg563His Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg563Leu Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg598Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg606His Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg645Cys Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg655Cys Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg655Gly Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg749Cys Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg749His Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg749Leu Single submitter ⚠
  • p.Asn103Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn313Asp Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Asn733Asp Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Asp258Tyr Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Asp368Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp421Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp450Asn Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Asp477Asn Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Asp492His Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Asp621Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp717Asn Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Asp746Glu Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Asp746Tyr Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Cys562Ser Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Cys742Ter Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Gln495His Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gln624His Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gln691His Single submitter Inborn genetic diseases ⚠
  • p.Glu309Asp Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Glu360Lys Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Glu377Asp Single submitter ⚠
  • p.Glu377Lys Single submitter ⚠
  • p.Glu525= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Glu590Lys Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Glu638Lys Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Glu695Gly Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Glu700Gly Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gly107Ser Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gly134Arg Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gly152Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly18Arg Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gly212Val Single submitter Inborn genetic diseases ⚠
  • p.Gly273Ser Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gly298Val Single submitter Inborn genetic diseases ⚠
  • p.Gly340Arg Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gly400Ala Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gly555Asp Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gly650Ser Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gly652Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly709Arg Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gly713Val Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gly82Arg Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.His133Pro Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.His140Tyr Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.His25Arg Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.His349Arg Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.His656Arg Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.His748Leu Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ile149Thr Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ile291Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile491Val Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ile512Met Single submitter Inborn genetic diseases ⚠
  • p.Ile512Val Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ile559Val Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ile762Val Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ile84Thr Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Leu130Phe Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Leu164Ser Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Leu281Val Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Leu534Val Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Leu596Pro Single submitter ⚠
  • p.Leu657Pro Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Leu674Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu754Met Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Lys102Gln Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Lys40Arg Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Lys631Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys634Arg Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Met153Ile Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Met311Ile Single submitter Inborn genetic diseases ⚠
  • p.Met311Val Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Met359Ile Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Met489Val Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Met582Arg Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Met643Val Single submitter Inborn genetic diseases ⚠
  • p.Met648Val Single submitter Inborn genetic diseases ⚠
  • p.Met97Thr Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Met97Val Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Phe416Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe43Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe462Leu Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Phe46Leu Single submitter ⚠
  • p.Phe697Ser Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Phe740Cys Single submitter Inborn genetic diseases ⚠
  • p.Phe765Leu Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro175Leu Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro177Leu Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro293= Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Pro510Ala Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro510Ser Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro510Thr Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro513Leu Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro523Ala Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro523Arg Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro523Leu Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro622Leu Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro703Leu Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro703Thr Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser299Cys Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser331Gly Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser442Tyr Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser474Phe Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser565Ile Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser592Phe Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser637Ala Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser707Cys Single submitter ⚠
  • p.Ser708Arg Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser723Leu Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser769Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser98Thr Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Thr13Met Single submitter Inborn genetic diseases ⚠
  • p.Thr300Met Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Thr324Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr423Ile Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Thr434Met Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Thr532Asn Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Thr602Met Single submitter Inborn genetic diseases ⚠
  • p.Thr610Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr625Met Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Thr649Ile Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Thr71Ala Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Thr745fs Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Thr93Pro Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Tyr186Cys Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Tyr32Ser Single submitter Inborn genetic diseases ⚠
  • p.Tyr398His Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Tyr55His Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Tyr74_Ser80del Single submitter carnitine palmitoyl transferase 1A deficiency
  • p.Val104Met Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Val108Met Single submitter Inborn genetic diseases ⚠
  • p.Val154Phe Single submitter Inborn genetic diseases ⚠
  • p.Val335Ile Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Val345Ile Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Val418Met Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Val461Gly Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Val544Met Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Val570Leu Single submitter Inborn genetic diseases ⚠
  • p.Val616Ala Single submitter Inborn genetic diseases ⚠
  • p.Val626Ala Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Val65Met Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Val669Leu Single submitter carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Val69Met Single submitter ⚠
  • p.Val706Met Single submitter Inborn genetic diseases ⚠
  • c.1163+9C>G No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.1575+517_1575+521dup No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.1575+527_1575+534del No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.1575+531_1575+534del No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.1576-4C>T No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.2236-1G>A No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.771+3G>A No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.-14+11934T>A No assertion criteria metabolic disease
  • c.-6C>A No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • c.-6C>G No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • p.Ala306= No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • p.Ala757Thr No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg216Lys No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Arg401Leu No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Asn369Asp No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Cys394Ser No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gln207Arg No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gln326= No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • p.Glu139Val No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Glu320Lys No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Glu486Asp No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Glu638Gly No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Glu729Gln No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Gly555= No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • p.Gly583= No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • p.Gly650Arg No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ile508Phe No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ile50Leu No assertion criteria CPT1A-related disorder ⚠
  • p.Ile732= No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • p.Lys102Glu No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Lys180= No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • p.Lys505= No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • p.Lys665Glu No assertion criteria ⚠
  • p.Met758Val No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro162Ser No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro192Leu No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Pro59Leu No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser144Asn No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser490Phe No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Ser493Thr No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Thr121Pro No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Thr763Ile No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Tyr427His No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Val335fs No assertion criteria
  • p.Val54= No assertion criteria carnitine palmitoyl transferase 1A deficiency
  • p.Val663Met No assertion criteria carnitine palmitoyl transferase 1A deficiency ⚠
  • p.Val67del No assertion criteria carnitine palmitoyl transferase 1A deficiency