Sugi Variant

Sugi Variant/SLC22A5

SLC22A5 — 1251 ClinVar variants

All ClinVar germline SLC22A5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 410 flagged for review →

91 Pathogenic · 82 Pathogenic/Likely pathogenic · 88 Likely pathogenic · 95 Conflicting · 33 Benign · 9 Benign/Likely benign · 431 Likely benign · 422 Uncertain significance

Full SLC22A5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 410

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 6

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

Predictors agree, ClinVar conflicts 55

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

Predictors lean, ClinVar uncertain 256

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 256

Predictors split 93

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

All SLC22A5 variants

Pathogenic 91

  • c.652+1G>A Multiple submitters Carnitine deficiency
  • c.653-2A>C Multiple submitters systemic primary carnitine deficiency disease
  • c.825-52G>A Multiple submitters systemic primary carnitine deficiency disease
  • p.Ala301Asp Multiple submitters systemic primary carnitine deficiency disease
  • p.Arg254Ter Multiple submitters Carnitine deficiency
  • p.Arg282Gln Multiple submitters Carnitine deficiency
  • p.Arg289Ter Multiple submitters SLC22A5-related disorder
  • p.Arg399Gln Multiple submitters Carnitine deficiency
  • p.Asn32Ser Multiple submitters Carnitine deficiency ⚠
  • p.Cys50fs Multiple submitters systemic primary carnitine deficiency disease
  • p.Gln418Ter Multiple submitters systemic primary carnitine deficiency disease
  • p.Gly435fs Multiple submitters systemic primary carnitine deficiency disease
  • p.His369fs Multiple submitters systemic primary carnitine deficiency disease
  • p.His79fs Multiple submitters systemic primary carnitine deficiency disease
  • p.Ile521fs Multiple submitters systemic primary carnitine deficiency disease
  • p.Ile89fs Multiple submitters systemic primary carnitine deficiency disease
  • p.Leu173fs Multiple submitters systemic primary carnitine deficiency disease
  • p.Leu269fs Multiple submitters systemic primary carnitine deficiency disease
  • p.Phe17Leu Multiple submitters Carnitine deficiency
  • p.Thr440Met Multiple submitters SLC22A5-related disorder
  • p.Trp132Ter Multiple submitters Carnitine deficiency
  • p.Tyr387Ter Multiple submitters systemic primary carnitine deficiency disease
  • p.Tyr401Ter Multiple submitters systemic primary carnitine deficiency disease
  • p.Val153fs Multiple submitters Carnitine deficiency
  • c.1053-3_1053-2delinsTC Single submitter
  • c.1053-6T>C Single submitter systemic primary carnitine deficiency disease
  • c.1451-1G>T Single submitter systemic primary carnitine deficiency disease
  • c.1586+1G>A Single submitter systemic primary carnitine deficiency disease
  • c.1586+2T>G Single submitter systemic primary carnitine deficiency disease
  • c.393+1G>T Single submitter systemic primary carnitine deficiency disease
  • c.394-2A>T Single submitter systemic primary carnitine deficiency disease
  • c.497+1G>T Single submitter systemic primary carnitine deficiency disease
  • c.652+1G>T Single submitter systemic primary carnitine deficiency disease
  • c.653-2A>G Single submitter systemic primary carnitine deficiency disease
  • p.Ala94fs Single submitter systemic primary carnitine deficiency disease
  • p.Arg169Pro Single submitter systemic primary carnitine deficiency disease
  • p.Arg282Pro Single submitter systemic primary carnitine deficiency disease
  • p.Arg488fs Single submitter systemic primary carnitine deficiency disease
  • p.Arg75fs Single submitter systemic primary carnitine deficiency disease
  • p.Asn32fs Single submitter systemic primary carnitine deficiency disease
  • p.Asp165fs Single submitter systemic primary carnitine deficiency disease
  • p.Asp364fs Single submitter systemic primary carnitine deficiency disease
  • p.Asp423fs Single submitter systemic primary carnitine deficiency disease
  • p.Cys376fs Single submitter systemic primary carnitine deficiency disease
  • p.Cys81fs Single submitter systemic primary carnitine deficiency disease
  • p.Gln110Ter Single submitter systemic primary carnitine deficiency disease
  • p.Gln162Ter Single submitter systemic primary carnitine deficiency disease
  • p.Gln180Ter Single submitter systemic primary carnitine deficiency disease
  • p.Gln207Arg Single submitter systemic primary carnitine deficiency disease
  • p.Gln287fs Single submitter systemic primary carnitine deficiency disease
  • p.Gln326Ter Single submitter systemic primary carnitine deficiency disease
  • p.Glu118Ter Single submitter systemic primary carnitine deficiency disease
  • p.Glu13Ter Single submitter systemic primary carnitine deficiency disease
  • p.Glu279Ter Single submitter systemic primary carnitine deficiency disease
  • p.Gly152fs Single submitter systemic primary carnitine deficiency disease
  • p.Ile354fs Single submitter systemic primary carnitine deficiency disease
  • p.Leu476fs Single submitter systemic primary carnitine deficiency disease
  • p.Met1Val Single submitter systemic primary carnitine deficiency disease
  • p.Met445fs Single submitter systemic primary carnitine deficiency disease
  • p.Phe150fs Single submitter systemic primary carnitine deficiency disease
  • p.Phe196fs Single submitter systemic primary carnitine deficiency disease
  • p.Phe200fs Single submitter systemic primary carnitine deficiency disease
  • p.Phe23del Single submitter systemic primary carnitine deficiency disease
  • p.Phe252fs Single submitter systemic primary carnitine deficiency disease
  • p.Pro143fs Single submitter systemic primary carnitine deficiency disease
  • p.Pro31Leu Single submitter systemic primary carnitine deficiency disease
  • p.Ser160Ter Single submitter systemic primary carnitine deficiency disease
  • p.Ser280fs Single submitter systemic primary carnitine deficiency disease
  • p.Ser38Tyr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ser470Tyr Single submitter systemic primary carnitine deficiency disease
  • p.Thr35_Ala44delinsAsnGlyMetSerValValPheLeuAlaGly Single submitter systemic primary carnitine deficiency disease
  • p.Thr506fs Single submitter systemic primary carnitine deficiency disease
  • p.Thr8fs Single submitter systemic primary carnitine deficiency disease
  • p.Trp140Ter Single submitter
  • p.Trp14Arg Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Trp256Ter Single submitter systemic primary carnitine deficiency disease
  • p.Trp391Ter Single submitter systemic primary carnitine deficiency disease
  • p.Trp62Ter Single submitter systemic primary carnitine deficiency disease
  • p.Tyr449Ter Single submitter systemic primary carnitine deficiency disease
  • p.Tyr479Ter Single submitter systemic primary carnitine deficiency disease
  • p.Tyr482Ter Single submitter systemic primary carnitine deficiency disease
  • p.Tyr486Ter Single submitter systemic primary carnitine deficiency disease
  • p.Val430fs Single submitter systemic primary carnitine deficiency disease
  • p.Val465_Ser470del Single submitter systemic primary carnitine deficiency disease
  • c.33_1427del No assertion criteria systemic primary carnitine deficiency disease
  • c.654_825del No assertion criteria systemic primary carnitine deficiency disease
  • p.Arg2fs No assertion criteria systemic primary carnitine deficiency disease
  • p.Thr219fs No assertion criteria systemic primary carnitine deficiency disease
  • p.Thr456fs No assertion criteria systemic primary carnitine deficiency disease
  • p.Trp351Arg No assertion criteria systemic primary carnitine deficiency disease
  • p.Tyr396Ter No assertion criteria systemic primary carnitine deficiency disease

Pathogenic/Likely pathogenic 82

  • c.1053-2A>C Multiple submitters SLC22A5-related disorder
  • c.1451-2A>G Multiple submitters systemic primary carnitine deficiency disease
  • c.1586+1G>T Multiple submitters systemic primary carnitine deficiency disease
  • c.393+1G>A Multiple submitters systemic primary carnitine deficiency disease
  • c.394-1G>T Multiple submitters systemic primary carnitine deficiency disease
  • c.394-2A>C Multiple submitters systemic primary carnitine deficiency disease
  • c.497+1G>A Multiple submitters systemic primary carnitine deficiency disease
  • c.497+2T>A Multiple submitters systemic primary carnitine deficiency disease
  • c.825-1G>C Multiple submitters Carnitine deficiency
  • c.952-5_955del Multiple submitters systemic primary carnitine deficiency disease
  • p.Ala380Val Multiple submitters Carnitine deficiency
  • p.Ala442Ile Multiple submitters Carnitine deficiency
  • p.Ala451fs Multiple submitters Carnitine deficiency
  • p.Ala56fs Multiple submitters systemic primary carnitine deficiency disease
  • p.Arg169Gln Multiple submitters Carnitine deficiency
  • p.Arg169Trp Multiple submitters Carnitine deficiency
  • p.Arg19Pro Multiple submitters Carnitine deficiency
  • p.Arg227His Multiple submitters Carnitine deficiency
  • p.Arg282fs Multiple submitters systemic primary carnitine deficiency disease
  • p.Arg282Ter Multiple submitters Carnitine deficiency
  • p.Arg336Ter Multiple submitters SLC22A5-related disorder
  • p.Arg399Trp Multiple submitters Carnitine deficiency
  • p.Arg471Cys Multiple submitters SLC22A5-related disorder
  • p.Arg471His Multiple submitters Carnitine deficiency
  • p.Arg471Pro Multiple submitters systemic primary carnitine deficiency disease
  • p.Arg83Leu Multiple submitters Carnitine deficiency
  • p.Asn210Ser Multiple submitters Carnitine deficiency ⚠
  • p.Asp519fs Multiple submitters Carnitine deficiency
  • p.Cys113Tyr Multiple submitters Carnitine deficiency
  • p.Gln121Ter Multiple submitters SLC22A5-related disorder
  • p.Gln18fs Multiple submitters systemic primary carnitine deficiency disease
  • p.Gln287Ter Multiple submitters systemic primary carnitine deficiency disease
  • p.Glu294fs Multiple submitters Carnitine deficiency
  • p.Glu6Ter Multiple submitters Carnitine deficiency
  • p.Gly152Asp Multiple submitters Inborn genetic diseases
  • p.Gly15Trp Multiple submitters Carnitine deficiency
  • p.Gly234Arg Multiple submitters systemic primary carnitine deficiency disease
  • p.Gly242Val Multiple submitters Carnitine deficiency
  • p.Leu24fs Multiple submitters systemic primary carnitine deficiency disease
  • p.Leu273Pro Multiple submitters systemic primary carnitine deficiency disease
  • p.Leu414fs Multiple submitters Carnitine deficiency
  • p.Leu507Ser Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Lys224fs Multiple submitters systemic primary carnitine deficiency disease
  • p.Met1Thr Multiple submitters systemic primary carnitine deficiency disease
  • p.Met417fs Multiple submitters systemic primary carnitine deficiency disease
  • p.Met433Thr Multiple submitters systemic primary carnitine deficiency disease
  • p.Phe230Leu Multiple submitters systemic primary carnitine deficiency disease
  • p.Pro143Leu Multiple submitters Carnitine deficiency
  • p.Pro247Arg Multiple submitters systemic primary carnitine deficiency disease
  • p.Pro266Leu Multiple submitters systemic primary carnitine deficiency disease
  • p.Pro398Leu Multiple submitters inborn errors of metabolism
  • p.Pro455Arg Multiple submitters Carnitine deficiency
  • p.Pro46Ser Multiple submitters SLC22A5-related disorder
  • p.Pro478Leu Multiple submitters Carnitine deficiency
  • p.Ser26Asn Multiple submitters Carnitine deficiency
  • p.Ser280Phe Multiple submitters Carnitine deficiency
  • p.Ser28Ile Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Ser362fs Multiple submitters systemic primary carnitine deficiency disease
  • p.Ser467Cys Multiple submitters SLC22A5-related disorder
  • p.Ser470Phe Multiple submitters Carnitine deficiency
  • p.Thr232Met Multiple submitters Acute rhabdomyolysis ⚠
  • p.Thr264Arg Multiple submitters SLC22A5-related disorder
  • p.Thr468Arg Multiple submitters SLC22A5-related disorder
  • p.Trp117Ter Multiple submitters SLC22A5-related disorder
  • p.Trp14Ter Multiple submitters systemic primary carnitine deficiency disease
  • p.Trp275Ter Multiple submitters Carnitine deficiency
  • p.Trp283Arg Multiple submitters systemic primary carnitine deficiency disease
  • p.Trp283fs Multiple submitters systemic primary carnitine deficiency disease
  • p.Tyr211Cys Multiple submitters Carnitine deficiency
  • p.Tyr211His Multiple submitters systemic primary carnitine deficiency disease
  • p.Tyr358Asn Multiple submitters Carnitine deficiency
  • p.Tyr358Cys Multiple submitters systemic primary carnitine deficiency disease
  • p.Tyr387fs Multiple submitters systemic primary carnitine deficiency disease
  • p.Tyr387His Multiple submitters systemic primary carnitine deficiency disease
  • p.Tyr447Cys Multiple submitters Carnitine deficiency
  • p.Tyr4Ter Multiple submitters Carnitine deficiency
  • p.Val261_Pro266del Multiple submitters Carnitine deficiency
  • p.Val268fs Multiple submitters Carnitine deficiency
  • p.Val446Phe Multiple submitters Carnitine deficiency
  • p.Val448_Tyr449insTer Multiple submitters Carnitine deficiency
  • c.1451-1G>A No assertion criteria systemic primary carnitine deficiency disease
  • p.Met1Ile No assertion criteria systemic primary carnitine deficiency disease

Likely pathogenic 88

  • c.1450+1G>A Multiple submitters systemic primary carnitine deficiency disease
  • c.498-1G>C Multiple submitters systemic primary carnitine deficiency disease
  • p.Arg227Cys Multiple submitters systemic primary carnitine deficiency disease
  • p.Arg471Leu Multiple submitters systemic primary carnitine deficiency disease
  • p.Arg471Ser Multiple submitters systemic primary carnitine deficiency disease
  • p.Gly462Asp Multiple submitters systemic primary carnitine deficiency disease
  • c.1267+1G>T Single submitter Carnitine deficiency
  • c.1268-2A>G Single submitter systemic primary carnitine deficiency disease
  • c.394-141T>C Single submitter systemic primary carnitine deficiency disease
  • c.394-2A>G Single submitter systemic primary carnitine deficiency disease
  • c.652+2T>A Single submitter systemic primary carnitine deficiency disease
  • c.824+1G>A Single submitter systemic primary carnitine deficiency disease
  • c.824+1G>T Single submitter systemic primary carnitine deficiency disease
  • c.825-2A>G Single submitter systemic primary carnitine deficiency disease
  • c.951+1G>A Single submitter systemic primary carnitine deficiency disease
  • c.952-1G>T Single submitter systemic primary carnitine deficiency disease
  • c.952-2A>G Single submitter systemic primary carnitine deficiency disease
  • p.Ala213Glu Single submitter systemic primary carnitine deficiency disease
  • p.Ala240Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg227fs Single submitter systemic primary carnitine deficiency disease
  • p.Arg227Gly Single submitter systemic primary carnitine deficiency disease
  • p.Arg227Leu Single submitter systemic primary carnitine deficiency disease
  • p.Arg227Ser Single submitter systemic primary carnitine deficiency disease
  • p.Arg282Gly Single submitter systemic primary carnitine deficiency disease
  • p.Arg289fs Single submitter systemic primary carnitine deficiency disease
  • p.Arg399fs Single submitter systemic primary carnitine deficiency disease
  • p.Arg83Cys Single submitter systemic primary carnitine deficiency disease
  • p.Asn32Asp Single submitter systemic primary carnitine deficiency disease
  • p.Asn91Thr Single submitter systemic primary carnitine deficiency disease
  • p.Cys50Tyr Single submitter systemic primary carnitine deficiency disease
  • p.Gln110fs Single submitter Carnitine deficiency
  • p.Gln121fs Single submitter systemic primary carnitine deficiency disease
  • p.Gln187Lys Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gln207Ter Single submitter Carnitine deficiency
  • p.Glu131Ter Single submitter systemic primary carnitine deficiency disease
  • p.Glu137fs Single submitter systemic primary carnitine deficiency disease
  • p.Glu383Ter Single submitter systemic primary carnitine deficiency disease
  • p.Glu47fs Single submitter systemic primary carnitine deficiency disease
  • p.Glu98Ter Single submitter systemic primary carnitine deficiency disease
  • p.Gly12Arg Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly15Arg Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly168Ala Single submitter systemic primary carnitine deficiency disease
  • p.Gly168Asp Single submitter systemic primary carnitine deficiency disease
  • p.Gly462Ser Single submitter systemic primary carnitine deficiency disease
  • p.Gly529Ter Single submitter systemic primary carnitine deficiency disease
  • p.Ile159fs Single submitter systemic primary carnitine deficiency disease
  • p.Ile345fs Single submitter systemic primary carnitine deficiency disease
  • p.Ile493fs Single submitter systemic primary carnitine deficiency disease
  • p.Leu144Pro Single submitter systemic primary carnitine deficiency disease
  • p.Leu155fs Single submitter Carnitine deficiency
  • p.Leu263Arg Single submitter systemic primary carnitine deficiency disease
  • p.Met177fs Single submitter Carnitine deficiency
  • p.Met1fs Single submitter systemic primary carnitine deficiency disease
  • p.Pro143Ser Single submitter systemic primary carnitine deficiency disease
  • p.Pro281Leu Single submitter systemic primary carnitine deficiency disease
  • p.Pro46Ala Single submitter systemic primary carnitine deficiency disease
  • p.Pro478Ser Single submitter systemic primary carnitine deficiency disease
  • p.Pro68Gln Single submitter systemic primary carnitine deficiency disease
  • p.Ser26Arg Single submitter systemic primary carnitine deficiency disease
  • p.Ser26Gly Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ser28Arg Single submitter systemic primary carnitine deficiency disease
  • p.Ser28fs Single submitter systemic primary carnitine deficiency disease
  • p.Ser28Gly Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ser467Pro Single submitter systemic primary carnitine deficiency disease
  • p.Ser93Ter Single submitter systemic primary carnitine deficiency disease
  • p.Thr337_Trp338insTer Single submitter Carnitine deficiency
  • p.Trp274Ter Single submitter systemic primary carnitine deficiency disease
  • p.Trp283Cys Single submitter systemic primary carnitine deficiency disease
  • p.Tyr358Ter Single submitter systemic primary carnitine deficiency disease
  • p.Tyr84Asn Single submitter systemic primary carnitine deficiency disease
  • p.Tyr84Ter Single submitter systemic primary carnitine deficiency disease
  • p.Val103Gly Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Val129fs Single submitter systemic primary carnitine deficiency disease
  • p.Val420fs Single submitter systemic primary carnitine deficiency disease
  • c.1052+1G>T No assertion criteria systemic primary carnitine deficiency disease
  • c.1267+1G>A No assertion criteria systemic primary carnitine deficiency disease
  • c.1587-1G>C No assertion criteria systemic primary carnitine deficiency disease
  • c.1587-2A>G No assertion criteria systemic primary carnitine deficiency disease
  • p.Asp5fs No assertion criteria systemic primary carnitine deficiency disease
  • p.Glu220Val No assertion criteria systemic primary carnitine deficiency disease
  • p.Gly438Glu No assertion criteria systemic primary carnitine deficiency disease
  • p.Met1Arg No assertion criteria systemic primary carnitine deficiency disease
  • p.Met1Leu No assertion criteria systemic primary carnitine deficiency disease
  • p.Met205Arg No assertion criteria systemic primary carnitine deficiency disease
  • p.Pro46fs No assertion criteria systemic primary carnitine deficiency disease
  • p.Pro516fs No assertion criteria systemic primary carnitine deficiency disease
  • p.Ser164Ter No assertion criteria systemic primary carnitine deficiency disease
  • p.Tyr486fs No assertion criteria systemic primary carnitine deficiency disease

Conflicting classifications of pathogenicity 95

  • c.1052+5G>A Single submitter systemic primary carnitine deficiency disease
  • c.1053-3C>T Single submitter systemic primary carnitine deficiency disease
  • c.1587-11T>G Single submitter systemic primary carnitine deficiency disease
  • c.394-16T>A Single submitter Carnitine deficiency
  • c.497+19G>A Single submitter systemic primary carnitine deficiency disease
  • c.952-14T>C Single submitter systemic primary carnitine deficiency disease
  • c.-26G>A Single submitter systemic primary carnitine deficiency disease
  • p.Ala142Ser Single submitter Carnitine deficiency ⚠
  • p.Ala214Gly Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala214Val Single submitter SLC22A5-related disorder ⚠
  • p.Ala301Gly Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala301Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala380Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala44Val Single submitter SLC22A5-related disorder ⚠
  • p.Ala90Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg19Cys Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg19Ser Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg254= Single submitter systemic primary carnitine deficiency disease
  • p.Arg254Gln Single submitter SLC22A5-related disorder ⚠
  • p.Arg257Trp Single submitter SLC22A5-related disorder ⚠
  • p.Arg400Cys Single submitter systemic primary carnitine deficiency disease
  • p.Arg400His Single submitter SLC22A5-related disorder ⚠
  • p.Arg459= Single submitter systemic primary carnitine deficiency disease
  • p.Arg488Cys Single submitter SLC22A5-related disorder
  • p.Arg488His Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg548Lys Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg83Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Asn192Ser Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Asn32His Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Asn460= Single submitter systemic primary carnitine deficiency disease
  • p.Asn91Ser Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Asp122Tyr Single submitter Carnitine deficiency ⚠
  • p.Asp138= Single submitter systemic primary carnitine deficiency disease
  • p.Asp139Asn Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Asp371= Single submitter systemic primary carnitine deficiency disease
  • p.Gln180Glu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gln207His Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Glu452Lys Single submitter Carnitine deficiency ⚠
  • p.Glu511Gln Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly12Ser Single submitter Decreased circulating carnitine concentration ⚠
  • p.Gly15Glu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly360_Leu361dup Single submitter systemic primary carnitine deficiency disease
  • p.Gly410Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly484Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly96Ala Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile229Leu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile312Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile348Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile551Val Single submitter Inborn genetic diseases ⚠
  • p.Leu134= Single submitter systemic primary carnitine deficiency disease
  • p.Leu186Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu202Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu20His Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu25= Single submitter systemic primary carnitine deficiency disease
  • p.Leu284= Single submitter systemic primary carnitine deficiency disease
  • p.Leu363Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu394del Single submitter Carnitine deficiency
  • p.Leu507Phe Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Lys191Arg Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Lys302Glu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Met177Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Met381Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Met433Ile Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Met541Leu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Phe174= Single submitter Inborn genetic diseases
  • p.Phe41Cys Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Phe480= Single submitter systemic primary carnitine deficiency disease
  • p.Pro266Arg Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Pro455Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Pro46Leu Single submitter Carnitine deficiency ⚠
  • p.Pro536fs Single submitter systemic primary carnitine deficiency disease
  • p.Pro68Ser Single submitter systemic primary carnitine deficiency disease
  • p.Ser157Phe Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ser280Tyr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ser355Leu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ser362Leu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ser38Cys Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ser39Ala Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ser537Gly Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Thr232Ala Single submitter Carnitine deficiency ⚠
  • p.Thr468Lys Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Thr66Ile Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Thr66Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Trp117Arg Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Trp14Cys Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Tyr124Cys Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Tyr243Ser Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Tyr449Asp Single submitter Acute rhabdomyolysis ⚠
  • p.Tyr449Cys Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Tyr454His Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Val151Met Single submitter SLC22A5-related disorder ⚠
  • p.Val175Met Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Val198Leu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Val481Ile Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Val527Leu Single submitter systemic primary carnitine deficiency disease ⚠

Benign 33

Benign/Likely benign 9

  • c.1052+101A>G Multiple submitters systemic primary carnitine deficiency disease
  • c.1451-16G>A Multiple submitters systemic primary carnitine deficiency disease
  • p.Asn375= Multiple submitters systemic primary carnitine deficiency disease
  • p.Leu144Phe Multiple submitters systemic primary carnitine deficiency disease
  • p.Met417Val Multiple submitters systemic primary carnitine deficiency disease
  • p.Met530Ile Multiple submitters systemic primary carnitine deficiency disease
  • p.Pro478= Multiple submitters systemic primary carnitine deficiency disease
  • p.Pro549Ser Multiple submitters systemic primary carnitine deficiency disease
  • p.Thr456= Multiple submitters systemic primary carnitine deficiency disease

Likely benign 431

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

  • c.1267+14G>A Multiple submitters systemic primary carnitine deficiency disease
  • c.1267+20A>G Multiple submitters systemic primary carnitine deficiency disease
  • c.1268-136C>A Multiple submitters
  • c.1586+7A>C Multiple submitters systemic primary carnitine deficiency disease
  • c.1587-15T>A Multiple submitters systemic primary carnitine deficiency disease
  • c.394-18C>G Multiple submitters systemic primary carnitine deficiency disease
  • c.498-266A>T Multiple submitters
  • c.825-4C>T Multiple submitters systemic primary carnitine deficiency disease
  • c.952-107C>T Multiple submitters
  • c.*1142C>T Multiple submitters systemic primary carnitine deficiency disease
  • p.Ala380= Multiple submitters systemic primary carnitine deficiency disease
  • p.Ala390= Multiple submitters systemic primary carnitine deficiency disease
  • p.Arg82= Multiple submitters Inborn genetic diseases
  • p.Asp314= Multiple submitters systemic primary carnitine deficiency disease
  • p.Asp73= Multiple submitters systemic primary carnitine deficiency disease
  • p.Gln121= Multiple submitters systemic primary carnitine deficiency disease
  • p.Gln395= Multiple submitters systemic primary carnitine deficiency disease
  • p.Glu511= Multiple submitters systemic primary carnitine deficiency disease
  • p.Gly106= Multiple submitters systemic primary carnitine deficiency disease
  • p.Gly267= Multiple submitters systemic primary carnitine deficiency disease
  • p.Gly360= Multiple submitters systemic primary carnitine deficiency disease
  • p.Leu505= Multiple submitters systemic primary carnitine deficiency disease
  • p.Leu69= Multiple submitters systemic primary carnitine deficiency disease
  • p.Lys191Asn Multiple submitters systemic primary carnitine deficiency disease
  • p.Phe513= Multiple submitters systemic primary carnitine deficiency disease
  • p.Pro266= Multiple submitters systemic primary carnitine deficiency disease
  • p.Pro31= Multiple submitters systemic primary carnitine deficiency disease
  • p.Ser190= Multiple submitters systemic primary carnitine deficiency disease
  • p.Thr264= Multiple submitters systemic primary carnitine deficiency disease
  • p.Tyr239= Multiple submitters systemic primary carnitine deficiency disease
  • p.Tyr447= Multiple submitters systemic primary carnitine deficiency disease
  • p.Val135= Multiple submitters systemic primary carnitine deficiency disease
  • c.1052+10A>G Single submitter systemic primary carnitine deficiency disease
  • c.1052+11G>T Single submitter systemic primary carnitine deficiency disease
  • c.1052+18G>T Single submitter systemic primary carnitine deficiency disease
  • c.1052+19C>T Single submitter systemic primary carnitine deficiency disease
  • c.1052+49T>A Single submitter
  • c.1052+7A>T Single submitter systemic primary carnitine deficiency disease
  • c.1053-10T>C Single submitter systemic primary carnitine deficiency disease
  • c.1053-12A>G Single submitter systemic primary carnitine deficiency disease
  • c.1053-13_1053-7del Single submitter systemic primary carnitine deficiency disease
  • c.1053-14G>A Single submitter systemic primary carnitine deficiency disease
  • c.1053-16C>A Single submitter systemic primary carnitine deficiency disease
  • c.1053-17T>C Single submitter systemic primary carnitine deficiency disease
  • c.1053-17T>G Single submitter systemic primary carnitine deficiency disease
  • c.1053-19C>A Single submitter systemic primary carnitine deficiency disease
  • c.1053-19C>T Single submitter systemic primary carnitine deficiency disease
  • c.1053-20T>C Single submitter systemic primary carnitine deficiency disease
  • c.1053-292T>G Single submitter
  • c.1053-7_1053-6del Single submitter systemic primary carnitine deficiency disease
  • c.1053-7G>A Single submitter systemic primary carnitine deficiency disease
  • c.1053-7G>T Single submitter systemic primary carnitine deficiency disease
  • c.1267+12G>A Single submitter systemic primary carnitine deficiency disease
  • c.1267+14G>C Single submitter systemic primary carnitine deficiency disease
  • c.1267+15C>G Single submitter systemic primary carnitine deficiency disease
  • c.1267+16A>C Single submitter systemic primary carnitine deficiency disease
  • c.1267+279G>A Single submitter
  • c.1267+9C>T Single submitter systemic primary carnitine deficiency disease
  • c.1268-15_1268-11dup Single submitter systemic primary carnitine deficiency disease
  • c.1268-15C>A Single submitter systemic primary carnitine deficiency disease
  • c.1268-16del Single submitter systemic primary carnitine deficiency disease
  • c.1268-19C>T Single submitter systemic primary carnitine deficiency disease
  • c.1268-20T>A Single submitter systemic primary carnitine deficiency disease
  • c.1268-212G>A Single submitter
  • c.1268-4C>A Single submitter systemic primary carnitine deficiency disease
  • c.1268-4C>T Single submitter systemic primary carnitine deficiency disease
  • c.1268-9C>A Single submitter systemic primary carnitine deficiency disease
  • c.1268-9C>T Single submitter systemic primary carnitine deficiency disease
  • c.1450+10A>G Single submitter systemic primary carnitine deficiency disease
  • c.1450+18A>C Single submitter systemic primary carnitine deficiency disease
  • c.1450+18A>G Single submitter systemic primary carnitine deficiency disease
  • c.1450+20G>A Single submitter systemic primary carnitine deficiency disease
  • c.1450+7C>A Single submitter systemic primary carnitine deficiency disease
  • c.1450+7C>T Single submitter systemic primary carnitine deficiency disease
  • c.1450+8C>A Single submitter systemic primary carnitine deficiency disease
  • c.1450+8C>G Single submitter systemic primary carnitine deficiency disease
  • c.1451-10T>G Single submitter systemic primary carnitine deficiency disease
  • c.1451-11C>G Single submitter systemic primary carnitine deficiency disease
  • c.1451-14del Single submitter systemic primary carnitine deficiency disease
  • c.1451-17C>T Single submitter systemic primary carnitine deficiency disease
  • c.1451-18C>G Single submitter systemic primary carnitine deficiency disease
  • c.1451-3T>C Single submitter
  • c.1451-4A>G Single submitter systemic primary carnitine deficiency disease
  • c.1451-53A>T Single submitter
  • c.1451-5C>T Single submitter systemic primary carnitine deficiency disease
  • c.1586+11C>T Single submitter systemic primary carnitine deficiency disease
  • c.1586+12T>C Single submitter systemic primary carnitine deficiency disease
  • c.1586+13C>T Single submitter systemic primary carnitine deficiency disease
  • c.1586+14_1586+16del Single submitter systemic primary carnitine deficiency disease
  • c.1586+15T>C Single submitter systemic primary carnitine deficiency disease
  • c.1586+19T>C Single submitter systemic primary carnitine deficiency disease
  • c.1586+9A>C Single submitter systemic primary carnitine deficiency disease
  • c.1587-11del Single submitter systemic primary carnitine deficiency disease
  • c.1587-12T>C Single submitter systemic primary carnitine deficiency disease
  • c.1587-13C>T Single submitter systemic primary carnitine deficiency disease
  • c.1587-14G>C Single submitter systemic primary carnitine deficiency disease
  • c.1587-18T>A Single submitter systemic primary carnitine deficiency disease
  • c.1587-18T>C Single submitter systemic primary carnitine deficiency disease
  • c.1587-18T>G Single submitter systemic primary carnitine deficiency disease
  • c.1587-4A>G Single submitter systemic primary carnitine deficiency disease
  • c.1587-6T>C Single submitter systemic primary carnitine deficiency disease
  • c.1587-7T>A Single submitter systemic primary carnitine deficiency disease
  • c.1587-8T>G Single submitter systemic primary carnitine deficiency disease
  • c.393+10G>A Single submitter systemic primary carnitine deficiency disease
  • c.393+12C>T Single submitter systemic primary carnitine deficiency disease
  • c.393+15C>T Single submitter systemic primary carnitine deficiency disease
  • c.393+17G>T Single submitter systemic primary carnitine deficiency disease
  • c.393+7G>T Single submitter systemic primary carnitine deficiency disease
  • c.393+8C>T Single submitter systemic primary carnitine deficiency disease
  • c.393+9C>G Single submitter systemic primary carnitine deficiency disease
  • c.393+9C>T Single submitter systemic primary carnitine deficiency disease
  • c.394-10C>T Single submitter systemic primary carnitine deficiency disease
  • c.394-11T>C Single submitter systemic primary carnitine deficiency disease
  • c.394-11T>G Single submitter systemic primary carnitine deficiency disease
  • c.394-12C>T Single submitter systemic primary carnitine deficiency disease
  • c.394-15T>G Single submitter systemic primary carnitine deficiency disease
  • c.394-9A>G Single submitter systemic primary carnitine deficiency disease
  • c.497+10C>T Single submitter systemic primary carnitine deficiency disease
  • c.497+11T>C Single submitter systemic primary carnitine deficiency disease
  • c.497+12G>A Single submitter systemic primary carnitine deficiency disease
  • c.497+19G>C Single submitter systemic primary carnitine deficiency disease
  • c.497+7T>C Single submitter systemic primary carnitine deficiency disease
  • c.497+8G>A Single submitter systemic primary carnitine deficiency disease
  • c.497+9T>A Single submitter systemic primary carnitine deficiency disease
  • c.497+9T>C Single submitter systemic primary carnitine deficiency disease
  • c.498-17T>C Single submitter systemic primary carnitine deficiency disease
  • c.498-18C>T Single submitter systemic primary carnitine deficiency disease
  • c.498-4C>A Single submitter systemic primary carnitine deficiency disease
  • c.498-4C>T Single submitter systemic primary carnitine deficiency disease
  • c.498-5C>T Single submitter systemic primary carnitine deficiency disease
  • c.498-6T>C Single submitter systemic primary carnitine deficiency disease
  • c.498-8C>T Single submitter systemic primary carnitine deficiency disease
  • c.652+11C>G Single submitter systemic primary carnitine deficiency disease
  • c.652+18G>A Single submitter systemic primary carnitine deficiency disease
  • c.652+9A>T Single submitter systemic primary carnitine deficiency disease
  • c.653-10T>A Single submitter systemic primary carnitine deficiency disease
  • c.653-10T>C Single submitter systemic primary carnitine deficiency disease
  • c.653-18C>T Single submitter systemic primary carnitine deficiency disease
  • c.653-203G>A Single submitter
  • c.653-7T>C Single submitter systemic primary carnitine deficiency disease
  • c.824+11C>A Single submitter systemic primary carnitine deficiency disease
  • c.824+12C>T Single submitter systemic primary carnitine deficiency disease
  • c.824+14T>C Single submitter systemic primary carnitine deficiency disease
  • c.824+15G>A Single submitter systemic primary carnitine deficiency disease
  • c.824+16T>C Single submitter systemic primary carnitine deficiency disease
  • c.824+18C>T Single submitter systemic primary carnitine deficiency disease
  • c.824+19C>A Single submitter systemic primary carnitine deficiency disease
  • c.824+7G>A Single submitter systemic primary carnitine deficiency disease
  • c.824+8_824+9del Single submitter systemic primary carnitine deficiency disease
  • c.824+8T>A Single submitter systemic primary carnitine deficiency disease
  • c.824+8T>C Single submitter systemic primary carnitine deficiency disease
  • c.824+8T>G Single submitter systemic primary carnitine deficiency disease
  • c.824+9G>C Single submitter systemic primary carnitine deficiency disease
  • c.825-10G>A Single submitter systemic primary carnitine deficiency disease
  • c.825-13C>A Single submitter systemic primary carnitine deficiency disease
  • c.825-14C>A Single submitter systemic primary carnitine deficiency disease
  • c.825-18T>C Single submitter systemic primary carnitine deficiency disease
  • c.825-19T>C Single submitter systemic primary carnitine deficiency disease
  • c.825-5G>A Single submitter systemic primary carnitine deficiency disease
  • c.825-67C>G Single submitter
  • c.825-6T>C Single submitter systemic primary carnitine deficiency disease
  • c.825-8_825-6dup Single submitter systemic primary carnitine deficiency disease
  • c.825-8A>G Single submitter systemic primary carnitine deficiency disease
  • c.825-8A>T Single submitter systemic primary carnitine deficiency disease
  • c.951+10_951+15del Single submitter systemic primary carnitine deficiency disease
  • c.951+10A>G Single submitter systemic primary carnitine deficiency disease
  • c.951+10A>T Single submitter systemic primary carnitine deficiency disease
  • c.951+11T>C Single submitter systemic primary carnitine deficiency disease
  • c.951+13T>G Single submitter systemic primary carnitine deficiency disease
  • c.951+14G>A Single submitter systemic primary carnitine deficiency disease
  • c.951+15G>C Single submitter systemic primary carnitine deficiency disease
  • c.951+18G>T Single submitter systemic primary carnitine deficiency disease
  • c.951+20G>T Single submitter systemic primary carnitine deficiency disease
  • c.951+7A>C Single submitter systemic primary carnitine deficiency disease
  • c.951+9C>T Single submitter systemic primary carnitine deficiency disease
  • c.952-10_952-8del Single submitter systemic primary carnitine deficiency disease
  • c.952-10G>A Single submitter systemic primary carnitine deficiency disease
  • c.952-13G>A Single submitter systemic primary carnitine deficiency disease
  • c.952-15_952-14insCGTATGA Single submitter systemic primary carnitine deficiency disease
  • c.952-15A>T Single submitter systemic primary carnitine deficiency disease
  • c.952-17T>C Single submitter systemic primary carnitine deficiency disease
  • c.952-19T>C Single submitter systemic primary carnitine deficiency disease
  • c.952-6C>A Single submitter systemic primary carnitine deficiency disease
  • c.*1179G>T Single submitter systemic primary carnitine deficiency disease
  • c.*271T>G Single submitter
  • p.Ala142= Single submitter systemic primary carnitine deficiency disease
  • p.Ala214= Single submitter systemic primary carnitine deficiency disease
  • p.Ala240= Single submitter systemic primary carnitine deficiency disease
  • p.Ala250= Single submitter systemic primary carnitine deficiency disease
  • p.Ala262= Single submitter systemic primary carnitine deficiency disease
  • p.Ala27= Single submitter systemic primary carnitine deficiency disease
  • p.Ala272= Single submitter systemic primary carnitine deficiency disease
  • p.Ala272Pro Single submitter systemic primary carnitine deficiency disease
  • p.Ala301= Single submitter systemic primary carnitine deficiency disease
  • p.Ala386= Single submitter systemic primary carnitine deficiency disease
  • p.Ala404= Single submitter systemic primary carnitine deficiency disease
  • p.Ala406= Single submitter systemic primary carnitine deficiency disease
  • p.Ala44= Single submitter systemic primary carnitine deficiency disease
  • p.Ala441= Single submitter systemic primary carnitine deficiency disease
  • p.Ala442= Single submitter systemic primary carnitine deficiency disease
  • p.Ala451= Single submitter systemic primary carnitine deficiency disease
  • p.Ala503= Single submitter systemic primary carnitine deficiency disease
  • p.Ala55= Single submitter systemic primary carnitine deficiency disease
  • p.Ala55Val Single submitter systemic primary carnitine deficiency disease
  • p.Ala61= Single submitter systemic primary carnitine deficiency disease
  • p.Ala9= Single submitter systemic primary carnitine deficiency disease
  • p.Ala90= Single submitter systemic primary carnitine deficiency disease
  • p.Arg101= Single submitter systemic primary carnitine deficiency disease
  • p.Arg2= Single submitter systemic primary carnitine deficiency disease
  • p.Arg257= Single submitter systemic primary carnitine deficiency disease
  • p.Arg282= Single submitter systemic primary carnitine deficiency disease
  • p.Arg289= Single submitter systemic primary carnitine deficiency disease
  • p.Arg298= Single submitter systemic primary carnitine deficiency disease
  • p.Arg336= Single submitter systemic primary carnitine deficiency disease
  • p.Arg341= Single submitter systemic primary carnitine deficiency disease
  • p.Arg471= Single submitter systemic primary carnitine deficiency disease
  • p.Arg49= Single submitter systemic primary carnitine deficiency disease
  • p.Arg51= Single submitter systemic primary carnitine deficiency disease
  • p.Arg526= Single submitter systemic primary carnitine deficiency disease
  • p.Arg540= Single submitter systemic primary carnitine deficiency disease
  • p.Arg548= Single submitter systemic primary carnitine deficiency disease
  • p.Arg72= Single submitter systemic primary carnitine deficiency disease
  • p.Arg85= Single submitter systemic primary carnitine deficiency disease
  • p.Asn133= Single submitter systemic primary carnitine deficiency disease
  • p.Asn171= Single submitter
  • p.Asn192= Single submitter systemic primary carnitine deficiency disease
  • p.Asn304= Single submitter systemic primary carnitine deficiency disease
  • p.Asn339= Single submitter systemic primary carnitine deficiency disease
  • p.Asn367= Single submitter systemic primary carnitine deficiency disease
  • p.Asn57= Single submitter systemic primary carnitine deficiency disease
  • p.Asp102= Single submitter systemic primary carnitine deficiency disease
  • p.Asp104= Single submitter systemic primary carnitine deficiency disease
  • p.Asp115= Single submitter systemic primary carnitine deficiency disease
  • p.Asp122= Single submitter systemic primary carnitine deficiency disease
  • p.Asp255= Single submitter systemic primary carnitine deficiency disease
  • p.Asp487= Single submitter systemic primary carnitine deficiency disease
  • p.Asp522= Single submitter systemic primary carnitine deficiency disease
  • p.Asp54= Single submitter systemic primary carnitine deficiency disease
  • p.Asp544= Single submitter systemic primary carnitine deficiency disease
  • p.Cys113= Single submitter
  • p.Cys270= Single submitter systemic primary carnitine deficiency disease
  • p.Cys50= Single submitter systemic primary carnitine deficiency disease
  • p.Cys81= Single submitter systemic primary carnitine deficiency disease
  • p.Gln110= Single submitter systemic primary carnitine deficiency disease
  • p.Gln187= Single submitter systemic primary carnitine deficiency disease
  • p.Gln523= Single submitter systemic primary carnitine deficiency disease
  • p.Gln546= Single submitter systemic primary carnitine deficiency disease
  • p.Glu111= Single submitter systemic primary carnitine deficiency disease
  • p.Glu118= Single submitter systemic primary carnitine deficiency disease
  • p.Glu13= Single submitter systemic primary carnitine deficiency disease
  • p.Glu383= Single submitter systemic primary carnitine deficiency disease
  • p.Glu47= Single submitter systemic primary carnitine deficiency disease
  • p.Glu6= Single submitter systemic primary carnitine deficiency disease
  • p.Glu76= Single submitter systemic primary carnitine deficiency disease
  • p.Gly100= Single submitter systemic primary carnitine deficiency disease
  • p.Gly12= Single submitter systemic primary carnitine deficiency disease
  • p.Gly15= Single submitter systemic primary carnitine deficiency disease
  • p.Gly156= Single submitter systemic primary carnitine deficiency disease
  • p.Gly182= Single submitter systemic primary carnitine deficiency disease
  • p.Gly182Val Single submitter systemic primary carnitine deficiency disease
  • p.Gly206= Single submitter systemic primary carnitine deficiency disease
  • p.Gly288= Single submitter systemic primary carnitine deficiency disease
  • p.Gly305= Single submitter systemic primary carnitine deficiency disease
  • p.Gly36= Single submitter systemic primary carnitine deficiency disease
  • p.Gly462= Single submitter systemic primary carnitine deficiency disease
  • p.Gly464= Single submitter systemic primary carnitine deficiency disease
  • p.Gly473= Single submitter systemic primary carnitine deficiency disease
  • p.Gly484= Single submitter systemic primary carnitine deficiency disease
  • p.His369= Single submitter systemic primary carnitine deficiency disease
  • p.His48= Single submitter systemic primary carnitine deficiency disease
  • p.His532= Single submitter systemic primary carnitine deficiency disease
  • p.His538= Single submitter systemic primary carnitine deficiency disease
  • p.His65= Single submitter systemic primary carnitine deficiency disease
  • p.Ile128= Single submitter systemic primary carnitine deficiency disease
  • p.Ile146= Single submitter systemic primary carnitine deficiency disease
  • p.Ile188= Single submitter systemic primary carnitine deficiency disease
  • p.Ile188Val Single submitter systemic primary carnitine deficiency disease
  • p.Ile21= Single submitter systemic primary carnitine deficiency disease
  • p.Ile221= Single submitter systemic primary carnitine deficiency disease
  • p.Ile277= Single submitter systemic primary carnitine deficiency disease
  • p.Ile29= Single submitter systemic primary carnitine deficiency disease
  • p.Ile296= Single submitter systemic primary carnitine deficiency disease
  • p.Ile297= Single submitter systemic primary carnitine deficiency disease
  • p.Ile30= Single submitter systemic primary carnitine deficiency disease
  • p.Ile312Leu Single submitter systemic primary carnitine deficiency disease
  • p.Ile331= Single submitter
  • p.Ile345= Single submitter systemic primary carnitine deficiency disease
  • p.Ile475= Single submitter systemic primary carnitine deficiency disease
  • p.Ile500= Single submitter systemic primary carnitine deficiency disease
  • p.Ile504= Single submitter systemic primary carnitine deficiency disease
  • p.Ile521= Single submitter systemic primary carnitine deficiency disease
  • p.Ile551= Single submitter systemic primary carnitine deficiency disease
  • p.Ile89= Single submitter systemic primary carnitine deficiency disease
  • p.Leu105= Single submitter systemic primary carnitine deficiency disease
  • p.Leu11= Single submitter systemic primary carnitine deficiency disease
  • p.Leu114= Single submitter systemic primary carnitine deficiency disease
  • p.Leu125= Single submitter systemic primary carnitine deficiency disease
  • p.Leu144= Single submitter systemic primary carnitine deficiency disease
  • p.Leu148= Single submitter systemic primary carnitine deficiency disease
  • p.Leu154= Single submitter systemic primary carnitine deficiency disease

Uncertain significance 422

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

  • c.652+3A>G Multiple submitters systemic primary carnitine deficiency disease
  • c.-25C>T Multiple submitters systemic primary carnitine deficiency disease
  • c.*1214G>A Multiple submitters systemic primary carnitine deficiency disease
  • c.*1244C>T Multiple submitters systemic primary carnitine deficiency disease
  • c.*678G>T Multiple submitters systemic primary carnitine deficiency disease
  • c.*959A>C Multiple submitters systemic primary carnitine deficiency disease
  • p.Ala213Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala44Thr Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Ala56Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala9Val Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Arg257Gln Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Arg289Gln Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Arg298Cys Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Arg298Gly Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Arg298His Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Arg298Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg336Gln Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Arg341Trp Multiple submitters systemic primary carnitine deficiency disease
  • p.Arg51Gln Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Arg70Trp Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Arg75Pro Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Arg82Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg82Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg85Gln Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Asn133His Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Asn57Lys Multiple submitters systemic primary carnitine deficiency disease
  • p.Asn64Ile Multiple submitters Inborn genetic diseases
  • p.Asp102Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp115Gly Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Asp138Asn Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Asp138Tyr Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Asp255Asn Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Asp544Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp544Val Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Asp73His Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Cys236Arg Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Cys50Trp Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Gln121His Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Gln18Glu Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Gln287Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln523Arg Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Glu109Gln Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Glu131Lys Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Glu13Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu292Val Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Glu317= Multiple submitters systemic primary carnitine deficiency disease
  • p.Glu317Lys Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Glu511Asp Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Gly100Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly12Asp Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Gly267Ala Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Gly267Glu Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Gly410Ser Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Gly464Glu Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Gly529Val Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Gly545Val Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Ile285Phe Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Ile345Met Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Ile348Lys Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Ile372Met Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Leu284Phe Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Leu321Val Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Leu332_Ile340del Multiple submitters systemic primary carnitine deficiency disease
  • p.Leu334Val Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Leu361Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Leu407Phe Multiple submitters systemic primary carnitine deficiency disease
  • p.Leu409Val Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Leu424Ser Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Leu498Met Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Leu517Phe Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Lys324Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Met177Thr Multiple submitters systemic primary carnitine deficiency disease
  • p.Met205Leu Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Met352Arg Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Met417Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met495Val Multiple submitters Inborn genetic diseases ⚠
  • p.Phe10Leu Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Phe149Leu Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Phe252Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe359Leu Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Phe437Ser Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Pro421Leu Multiple submitters systemic primary carnitine deficiency disease
  • p.Pro516Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro518Ala Multiple submitters systemic primary carnitine deficiency disease
  • p.Pro518Ser Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Pro78Leu Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Pro78Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser126Tyr Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Ser412Arg Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Ser554Gly Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Ser59Asn Multiple submitters systemic primary carnitine deficiency disease
  • p.Thr264Met Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Thr311Ser Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Thr337Ile Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Thr45Asn Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Trp275Cys Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Tyr479Ser Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Tyr492Cys Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Val123Gly Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Val198Met Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Val203Ala Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Val226Asp Multiple submitters systemic primary carnitine deficiency disease
  • p.Val235Gly Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Val268Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val271Met Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Val308Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val374Met Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Val40Met Multiple submitters systemic primary carnitine deficiency disease
  • p.Val413Gly Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Val420Leu Multiple submitters systemic primary carnitine deficiency disease
  • p.Val448Met Multiple submitters systemic primary carnitine deficiency disease
  • p.Val458Ala Multiple submitters systemic primary carnitine deficiency disease ⚠
  • p.Val465Gly Multiple submitters systemic primary carnitine deficiency disease
  • p.Val481Phe Multiple submitters systemic primary carnitine deficiency disease ⚠
  • c.1052+3A>G Single submitter systemic primary carnitine deficiency disease
  • c.1053-11C>G Single submitter systemic primary carnitine deficiency disease
  • c.1053-6T>G Single submitter systemic primary carnitine deficiency disease
  • c.1267+3_1267+24del Single submitter systemic primary carnitine deficiency disease
  • c.1267+5G>A Single submitter systemic primary carnitine deficiency disease
  • c.1450+5G>A Single submitter systemic primary carnitine deficiency disease
  • c.1451-3T>A Single submitter systemic primary carnitine deficiency disease
  • c.1586+6A>C Single submitter systemic primary carnitine deficiency disease
  • c.393+5G>A Single submitter systemic primary carnitine deficiency disease
  • c.394-151C>G Single submitter systemic primary carnitine deficiency disease
  • c.394-171A>G Single submitter
  • c.394-26A>G Single submitter SLC22A5-related disorder
  • c.497+5G>T Single submitter systemic primary carnitine deficiency disease
  • c.498-3C>T Single submitter systemic primary carnitine deficiency disease
  • c.824+4A>C Single submitter
  • c.951+3A>C Single submitter systemic primary carnitine deficiency disease
  • c.951+5G>C Single submitter systemic primary carnitine deficiency disease
  • c.952-17T>G Single submitter systemic primary carnitine deficiency disease
  • c.-30G>C Single submitter systemic primary carnitine deficiency disease
  • c.-6G>A Single submitter
  • c.*1020C>G Single submitter systemic primary carnitine deficiency disease
  • c.*1062G>A Single submitter systemic primary carnitine deficiency disease
  • c.*17G>A Single submitter systemic primary carnitine deficiency disease
  • c.*195G>T Single submitter systemic primary carnitine deficiency disease
  • c.*196A>T Single submitter systemic primary carnitine deficiency disease
  • c.*322C>A Single submitter systemic primary carnitine deficiency disease
  • c.*417T>A Single submitter systemic primary carnitine deficiency disease
  • c.*484G>A Single submitter systemic primary carnitine deficiency disease
  • c.*5G>A Single submitter systemic primary carnitine deficiency disease
  • c.*637T>C Single submitter systemic primary carnitine deficiency disease
  • c.*654G>C Single submitter systemic primary carnitine deficiency disease
  • c.*705A>G Single submitter systemic primary carnitine deficiency disease
  • c.*74G>A Single submitter systemic primary carnitine deficiency disease
  • c.*957A>T Single submitter systemic primary carnitine deficiency disease
  • p.Ala142Thr Single submitter ⚠
  • p.Ala240Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala262Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala272Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala27Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala27Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala293Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala300Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala300Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala386Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala390Gly Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala390Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala442Thr Single submitter systemic primary carnitine deficiency disease
  • p.Ala44Glu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala44Gly Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala485Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala55Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala55Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala61Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala61Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala90Ser Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala94Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ala9Gly Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg166Gly Single submitter systemic primary carnitine deficiency disease
  • p.Arg166Lys Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg19= Single submitter
  • p.Arg19Gly Single submitter ⚠
  • p.Arg2Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg341Gln Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg488Gly Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg49Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg548Gly Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg63Gly Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg63Ser Single submitter
  • p.Arg72Gln Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg72Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg72Trp Single submitter ⚠
  • p.Arg75Ser Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Arg82Cys Single submitter systemic primary carnitine deficiency disease
  • p.Arg83His Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Asn304Ser Single submitter systemic primary carnitine deficiency disease
  • p.Asn339Ser Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Asn339Tyr Single submitter ⚠
  • p.Asn367Asp Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Asn460Lys Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Asp102Glu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Asp122Glu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Asp165Asn Single submitter ⚠
  • p.Asp165Glu Single submitter ⚠
  • p.Asp165His Single submitter ⚠
  • p.Asp487Asn Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Asp54Asn Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Asp54Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp73Asn Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Cys236Phe Single submitter systemic primary carnitine deficiency disease
  • p.Cys236Ser Single submitter systemic primary carnitine deficiency disease
  • p.Cys376Phe Single submitter Inborn genetic diseases ⚠
  • p.Cys376Ser Single submitter
  • p.Cys81Tyr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gln110His Single submitter systemic primary carnitine deficiency disease
  • p.Gln18Arg Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gln287His Single submitter systemic primary carnitine deficiency disease
  • p.Gln326Glu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gln326Lys Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gln327Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gln546Ter Single submitter systemic primary carnitine deficiency disease
  • p.Glu109Asp Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Glu111Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu13Asp Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Glu279Gln Single submitter ⚠
  • p.Glu279Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Glu291Gly Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Glu47Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Glu547Asp Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Glu98Lys Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly178Asp Single submitter ⚠
  • p.Gly182Cys Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly218Arg Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly370Glu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly411Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly435Ser Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly438Arg Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly464Arg Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly484Asp Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly496Arg Single submitter ⚠
  • p.Gly514Asp Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly514Ser Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly529Ala Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly74Arg Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Gly74Asp Single submitter ⚠
  • p.Gly96Arg Single submitter systemic primary carnitine deficiency disease
  • p.His369Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.His532fs Single submitter systemic primary carnitine deficiency disease
  • p.His532Tyr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.His65Leu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.His65Pro Single submitter systemic primary carnitine deficiency disease
  • p.His79Asn Single submitter systemic primary carnitine deficiency disease ⚠
  • p.His79Gln Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile128Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile159dup Single submitter systemic primary carnitine deficiency disease
  • p.Ile159Leu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile159Thr Single submitter systemic primary carnitine deficiency disease
  • p.Ile229Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile285Asn Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile296Met Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile340Phe Single submitter systemic primary carnitine deficiency disease
  • p.Ile348Met Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile354Met Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile354Thr Single submitter ⚠
  • p.Ile354Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile493Leu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile504Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile521Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Ile89Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu114Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu11Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu154Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu173Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu199Pro Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu321Arg Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu363His Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu37Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu419Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu507Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu58Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu71Met Single submitter systemic primary carnitine deficiency disease
  • p.Leu95Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu97Met Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Leu97Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Lys141Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Lys224Met Single submitter systemic primary carnitine deficiency disease
  • p.Lys528Gln Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Lys528Ter Single submitter systemic primary carnitine deficiency disease
  • p.Met195Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Met244Leu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Met258Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Met346Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Met346Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Met349Thr Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Met352Thr Single submitter systemic primary carnitine deficiency disease
  • p.Met403Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Met530Val Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Phe10Tyr Single submitter systemic primary carnitine deficiency disease
  • p.Phe189Leu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Phe230del Single submitter systemic primary carnitine deficiency disease
  • p.Phe290Cys Single submitter ⚠
  • p.Phe313Leu Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Phe359Ser Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Phe373Ser Single submitter systemic primary carnitine deficiency disease ⚠
  • p.Phe416Val Single submitter Inborn genetic diseases ⚠
  • p.Phe41Leu Single submitter systemic primary carnitine deficiency disease ⚠