SLC25A20 — 347 ClinVar variants
All ClinVar germline SLC25A20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
33 Pathogenic · 13 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 9 Conflicting · 4 Benign · 4 Benign/Likely benign · 143 Likely benign · 114 Uncertain significance
Full SLC25A20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
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 agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SLC25A20 p.Gly17Arg
Conflicting
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Gly220Arg
Conflicting
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Gly28Cys
Conflicting
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Ser120Pro
Conflicting
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Thr239Pro
Conflicting
Single submitter
carnitine-acylcarnitine translocase deficiency
Predictors lean, ClinVar uncertain 59
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SLC25A20 p.Ala142Gly
Uncertain significance
Multiple submitters
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Ala16Val
Uncertain significance
Multiple submitters
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Ala76Pro
Uncertain significance
Multiple submitters
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Ala87Val
Uncertain significance
Multiple submitters
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Arg211Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC25A20 p.Asp179Gly
Uncertain significance
Multiple submitters
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Leu294Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC25A20 p.Met85Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC25A20 p.Thr69Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC25A20 p.Val122Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC25A20 p.Val122Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC25A20 p.Ala142Thr
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
- SLC25A20 p.Ala142Val Uncertain significance Single submitter
-
SLC25A20 p.Ala290Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Ala290Thr
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Arg178Gly
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Arg236Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Arg254Lys
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
- SLC25A20 p.Arg37Pro Uncertain significance Single submitter
-
SLC25A20 p.Arg73Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Arg73Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Asn195Ser
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Asn223Ser
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Asn300Ser
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
- SLC25A20 p.Asp32Asn Uncertain significance Single submitter
- SLC25A20 p.Cys155Arg Uncertain significance Single submitter
-
SLC25A20 p.Gln112His
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC25A20 p.Gly216Trp Uncertain significance Single submitter
-
SLC25A20 p.Gly216Val
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
- SLC25A20 p.Gly21Ser Uncertain significance Single submitter
-
SLC25A20 p.Gly268Ala
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Gly268Val
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Gly28Asp
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
- SLC25A20 p.Gly54Trp Uncertain significance Single submitter
-
SLC25A20 p.Ile127Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Ile196Thr
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Ile228Val
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Ile257Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Leu153Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Leu207Phe
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Leu24Val
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Leu285Arg
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Leu38Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Leu63Val
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Lys158Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Met128Val
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Pro10Ser
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Pro181Gln
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Pro181Ser
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Pro278Ser
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Pro78Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Pro7His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Ser235Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Ser264Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Ser44Asn
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
- SLC25A20 p.Thr55Ala Uncertain significance Single submitter
-
SLC25A20 p.Val204Ala
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Val25Met
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Pro7Ser
Uncertain significance
No assertion criteria
SLC25A20-related disorder
Predictors split 31
The independent predictors disagree with each other — read with care.
-
SLC25A20 p.Arg258Gln
Benign/Likely benign
Multiple submitters
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Arg258Trp
Uncertain significance
Multiple submitters
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Arg60Gln
Uncertain significance
Multiple submitters
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Phe163Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC25A20 p.Pro241Thr
Uncertain significance
Multiple submitters
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Pro30Ala
Uncertain significance
Multiple submitters
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Pro42Ser
Uncertain significance
Multiple submitters
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Ala271Val
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Arg166Gln
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
- SLC25A20 p.Arg60Trp Uncertain significance Single submitter
-
SLC25A20 p.Asp251Gly
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Glu255Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC25A20 p.Glu66Gly Uncertain significance Single submitter
-
SLC25A20 p.Leu233Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC25A20 p.Leu45Phe Likely benign Single submitter
-
SLC25A20 p.Lys170Gln
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Met118Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC25A20 p.Met75Thr Uncertain significance Single submitter
-
SLC25A20 p.Met75Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Phe56Ser
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Pro199Leu
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Pro230Leu
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Pro241Leu
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Pro299Ala
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Pro30Ser
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Ser183Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Thr150Ile
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
-
SLC25A20 p.Thr152Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC25A20 p.Thr172Ala
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
- SLC25A20 p.Tyr169Cys Uncertain significance Single submitter
-
SLC25A20 p.Val88Met
Uncertain significance
Single submitter
carnitine-acylcarnitine translocase deficiency
All SLC25A20 variants
Pathogenic 33
- c.199-10T>G Multiple submitters SLC25A20-related disorder
- c.326+1del Multiple submitters carnitine-acylcarnitine translocase deficiency
- c.718+1G>C Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Arg166Ter Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Arg178Ter Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Arg236Ter Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Gln101Ter Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Gln238Arg Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.His29fs Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Leu63_Phe64insTer Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Met177fs Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Phe269fs Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Phe91fs Multiple submitters carnitine-acylcarnitine translocase deficiency
- c.106-2A>G Single submitter carnitine-acylcarnitine translocase deficiency
- c.199-2A>C Single submitter
- c.843+4_843+50del Single submitter carnitine-acylcarnitine translocase deficiency
- p.Asp57fs Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gln139Ter Single submitter carnitine-acylcarnitine translocase deficiency
- p.Glu132Ter Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gly17fs Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gly54_Thr55delinsTrpAla Single submitter carnitine-acylcarnitine translocase deficiency
- p.Ile134fs Single submitter carnitine-acylcarnitine translocase deficiency
- p.Leu71fs Single submitter carnitine-acylcarnitine translocase deficiency
- p.Leu99fs Single submitter carnitine-acylcarnitine translocase deficiency
- p.Lys244fs Single submitter carnitine-acylcarnitine translocase deficiency
- p.Lys61fs Single submitter carnitine-acylcarnitine translocase deficiency
- p.Lys98Ter Single submitter carnitine-acylcarnitine translocase deficiency
- p.Met1Val Single submitter carnitine-acylcarnitine translocase deficiency
- p.Tyr169fs Single submitter carnitine-acylcarnitine translocase deficiency
- p.Tyr72Ter Single submitter carnitine-acylcarnitine translocase deficiency
- c.106-2A>T No assertion criteria carnitine-acylcarnitine translocase deficiency
- c.200_326+1del No assertion criteria carnitine-acylcarnitine translocase deficiency
- p.Trp192Ter No assertion criteria carnitine-acylcarnitine translocase deficiency
Pathogenic/Likely pathogenic 13
- p.Ala281Val Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Arg133Trp Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Arg275Gln Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Arg275Ter Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Arg37Ter Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Asn300fs Multiple submitters SLC25A20-related disorder
- p.Asp231His Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Gln41Ter Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Gln4Ter Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Gly216fs Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Pro181fs Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Pro42fs Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Val82fs Multiple submitters carnitine-acylcarnitine translocase deficiency
Likely pathogenic 27
- c.105+1G>T Multiple submitters carnitine-acylcarnitine translocase deficiency
- c.198+2T>C Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Phe114fs Multiple submitters carnitine-acylcarnitine translocase deficiency
- c.105+2T>G Single submitter carnitine-acylcarnitine translocase deficiency
- c.326+1G>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.329_348del Single submitter carnitine-acylcarnitine translocase deficiency
- c.417+1G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.417+2T>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.418-1G>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.536-1G>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.608+1G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.608+2T>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.719-7_719dup Single submitter carnitine-acylcarnitine translocase deficiency
- p.Ala209fs Single submitter carnitine-acylcarnitine translocase deficiency
- p.Arg178Gln Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gln100fs Single submitter carnitine-acylcarnitine translocase deficiency
- p.Glu288Ter Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gly167fs Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gly81Arg Single submitter carnitine-acylcarnitine translocase deficiency
- p.His103fs Single submitter carnitine-acylcarnitine translocase deficiency
- p.Ile218fs Single submitter carnitine-acylcarnitine translocase deficiency
- p.Phe90Cys Single submitter SLC25A20-related disorder
- p.Pro230Arg Single submitter carnitine-acylcarnitine translocase deficiency
- p.Ser143fs Single submitter carnitine-acylcarnitine translocase deficiency
- p.Ser235Ter Single submitter carnitine-acylcarnitine translocase deficiency
- p.Thr172fs Single submitter carnitine-acylcarnitine translocase deficiency
- p.Trp224Ter Single submitter carnitine-acylcarnitine translocase deficiency
Conflicting classifications of pathogenicity 9
- c.535+6C>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.719-10T>C Single submitter carnitine-acylcarnitine translocase deficiency
- p.Glu260del Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gly17Arg Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Gly220Arg Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Gly28Cys Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Ser120Pro Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Thr239Pro Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Thr298= Single submitter carnitine-acylcarnitine translocase deficiency
Benign 4
- c.417+213G>C Single submitter
- c.418-255C>T Single submitter
- c.*357C>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.*698G>A Single submitter carnitine-acylcarnitine translocase deficiency
Benign/Likely benign 4
- c.535+18C>T Multiple submitters carnitine-acylcarnitine translocase deficiency
- c.536-18T>C Multiple submitters carnitine-acylcarnitine translocase deficiency
- c.843+20G>T Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Arg258Gln Multiple submitters carnitine-acylcarnitine translocase deficiency ⚠
Likely benign 143
- c.106-61A>G Multiple submitters
- c.198+13T>C Multiple submitters carnitine-acylcarnitine translocase deficiency
- c.327-13G>C Multiple submitters carnitine-acylcarnitine translocase deficiency
- c.327-75C>G Multiple submitters
- c.327-99T>G Multiple submitters
- c.608+12A>G Multiple submitters carnitine-acylcarnitine translocase deficiency
- c.719-18T>C Multiple submitters carnitine-acylcarnitine translocase deficiency
- c.719-9G>A Multiple submitters carnitine-acylcarnitine translocase deficiency
- c.844-19C>T Multiple submitters carnitine-acylcarnitine translocase deficiency
- c.-12G>A Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Ala240= Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Ala87= Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Gly164= Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Lys102= Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Pro199= Multiple submitters carnitine-acylcarnitine translocase deficiency
- c.105+14G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.105+15G>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.105+18G>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.105+7_105+10dup Single submitter carnitine-acylcarnitine translocase deficiency
- c.105+7G>T Single submitter
- c.105+8A>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.106-11T>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.106-20A>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.106-20A>G Single submitter carnitine-acylcarnitine translocase deficiency
- c.106-4T>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.106-7T>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.106-8G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.106-8G>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.198+11G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.198+12G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.198+14G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.198+15C>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.198+19G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.198+19G>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.198+7A>G Single submitter carnitine-acylcarnitine translocase deficiency
- c.198+7A>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.198+9A>G Single submitter carnitine-acylcarnitine translocase deficiency
- c.199-14G>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.199-15T>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.199-20G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.199-5del Single submitter carnitine-acylcarnitine translocase deficiency
- c.199-6T>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.199-7C>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.326+11A>G Single submitter carnitine-acylcarnitine translocase deficiency
- c.326+15G>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.326+16T>G Single submitter carnitine-acylcarnitine translocase deficiency
- c.326+8C>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.327-20G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.327-7A>G Single submitter carnitine-acylcarnitine translocase deficiency
- c.417+13T>C Single submitter
- c.417+18G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.417+19G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.417+9G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.418-11C>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.418-14C>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.418-3C>T Single submitter
- c.418-8C>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.535+10C>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.535+13G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.536-10C>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.536-13_536-3del Single submitter carnitine-acylcarnitine translocase deficiency
- c.536-18T>G Single submitter carnitine-acylcarnitine translocase deficiency
- c.536-20C>G Single submitter carnitine-acylcarnitine translocase deficiency
- c.536-20del Single submitter carnitine-acylcarnitine translocase deficiency
- c.536-282C>T Single submitter
- c.608+13_608+14del Single submitter
- c.608+9A>G Single submitter carnitine-acylcarnitine translocase deficiency
- c.609-12G>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.609-14T>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.609-19T>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.609-5T>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.718+12G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.718+12G>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.719-5C>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.844-11T>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.844-12A>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.844-34G>T Single submitter
- c.844-5C>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.844-6T>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.-37C>T Single submitter
- c.*274C>T Single submitter carnitine-acylcarnitine translocase deficiency
- p.Arg178= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Arg236= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Arg65= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Arg73= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Asn13= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Asn223= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Asp57= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Cys136= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gln4Glu Single submitter
- p.Glu162= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Glu200= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gly121= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gly151= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gly17= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gly261= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gly67= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gly70= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gly96= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Ile134= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Ile218= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Ile257= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Ile79= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Ile80= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Leu108= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Leu11= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Leu137= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Leu24= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Leu256= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Leu294= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Leu301= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Leu31= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Leu38= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Leu45Phe Single submitter ⚠
- p.Leu71= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Leu99= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Lys61= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Lys98= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Phe197= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Phe287= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Pro10= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Pro246= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Pro30= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Pro43= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Pro5Ala Single submitter Inborn genetic diseases
- p.Ser144= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Ser183= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Ser53= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Ser9= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Thr125= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Thr172= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Thr175= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Thr33= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Thr40= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Thr69= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Tyr190= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Val173= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Val180= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Val204= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Val272= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Val88= Single submitter
- c.199-3C>T No assertion criteria SLC25A20-related disorder
- c.*9G>T No assertion criteria SLC25A20-related disorder
Uncertain significance 114
- c.327-6A>G Multiple submitters Inborn genetic diseases
- c.-80G>C Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Ala142Gly Multiple submitters carnitine-acylcarnitine translocase deficiency ⚠
- p.Ala16Val Multiple submitters carnitine-acylcarnitine translocase deficiency ⚠
- p.Ala76Pro Multiple submitters carnitine-acylcarnitine translocase deficiency ⚠
- p.Ala87Val Multiple submitters carnitine-acylcarnitine translocase deficiency ⚠
- p.Arg211Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg258Trp Multiple submitters carnitine-acylcarnitine translocase deficiency ⚠
- p.Arg60Gln Multiple submitters carnitine-acylcarnitine translocase deficiency ⚠
- p.Asp179Gly Multiple submitters carnitine-acylcarnitine translocase deficiency ⚠
- p.Glu255Met Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Leu294Pro Multiple submitters Inborn genetic diseases ⚠
- p.Met85Lys Multiple submitters Inborn genetic diseases ⚠
- p.Phe163Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro10Leu Multiple submitters carnitine-acylcarnitine translocase deficiency
- p.Pro241Thr Multiple submitters carnitine-acylcarnitine translocase deficiency ⚠
- p.Pro30Ala Multiple submitters carnitine-acylcarnitine translocase deficiency ⚠
- p.Pro42Ser Multiple submitters carnitine-acylcarnitine translocase deficiency ⚠
- p.Thr69Met Multiple submitters Inborn genetic diseases ⚠
- p.Val122Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val122Leu Multiple submitters Inborn genetic diseases ⚠
- c.198+4G>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.418-1102T>G Single submitter
- c.418-3C>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.843+4A>G Single submitter carnitine-acylcarnitine translocase deficiency
- c.-2C>A Single submitter carnitine-acylcarnitine translocase deficiency
- c.-71G>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.-9G>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.*211T>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.*235T>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.*311C>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.*359C>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.*371T>G Single submitter carnitine-acylcarnitine translocase deficiency
- c.*476G>T Single submitter carnitine-acylcarnitine translocase deficiency
- c.*710G>C Single submitter carnitine-acylcarnitine translocase deficiency
- c.*782T>C Single submitter carnitine-acylcarnitine translocase deficiency
- p.Ala142Thr Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Ala142Val Single submitter ⚠
- p.Ala271Val Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Ala290Pro Single submitter Inborn genetic diseases ⚠
- p.Ala290Thr Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Arg166Gln Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Arg178Gly Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Arg236Gln Single submitter Inborn genetic diseases ⚠
- p.Arg254Lys Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Arg37Pro Single submitter ⚠
- p.Arg60Trp Single submitter ⚠
- p.Arg73Gln Single submitter Inborn genetic diseases ⚠
- p.Arg73Trp Single submitter Inborn genetic diseases ⚠
- p.Asn195Ser Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Asn223Ser Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Asn300Ser Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Asp251Gly Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Asp32Asn Single submitter ⚠
- p.Cys155Arg Single submitter ⚠
- p.Gln112His Single submitter Inborn genetic diseases ⚠
- p.Glu255Lys Single submitter Inborn genetic diseases
- p.Glu255Val Single submitter Inborn genetic diseases ⚠
- p.Glu66= Single submitter carnitine-acylcarnitine translocase deficiency
- p.Glu66Gly Single submitter ⚠
- p.Gly216Trp Single submitter ⚠
- p.Gly216Val Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Gly21Ser Single submitter ⚠
- p.Gly268Ala Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Gly268Val Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Gly28Asp Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Gly47_Pro49del Single submitter carnitine-acylcarnitine translocase deficiency
- p.Gly54Trp Single submitter ⚠
- p.Ile127Val Single submitter Inborn genetic diseases ⚠
- p.Ile196Thr Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Ile228Val Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Ile257Leu Single submitter Inborn genetic diseases ⚠
- p.Leu153Trp Single submitter Inborn genetic diseases ⚠
- p.Leu207Phe Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Leu233Phe Single submitter Inborn genetic diseases ⚠
- p.Leu24Val Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Leu285Arg Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Leu38Val Single submitter Inborn genetic diseases ⚠
- p.Leu63Val Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Lys158Gln Single submitter Inborn genetic diseases ⚠
- p.Lys170Gln Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Met118Ile Single submitter Inborn genetic diseases ⚠
- p.Met128Val Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Met291Thr Single submitter
- p.Met75Thr Single submitter ⚠
- p.Met75Val Single submitter Inborn genetic diseases ⚠
- p.Phe56Ser Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Pro10Ser Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Pro181Gln Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Pro181Ser Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Pro199Leu Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Pro230Leu Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Pro241Leu Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Pro278Ser Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Pro299Ala Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Pro30Ser Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Pro46= Single submitter
- p.Pro78Leu Single submitter Inborn genetic diseases ⚠
- p.Pro7His Single submitter Inborn genetic diseases ⚠
- p.Ser183Asn Single submitter Inborn genetic diseases ⚠
- p.Ser235Phe Single submitter Inborn genetic diseases ⚠
- p.Ser264Ala Single submitter Inborn genetic diseases ⚠
- p.Ser44Asn Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Ter302Trp Single submitter carnitine-acylcarnitine translocase deficiency
- p.Thr150Ile Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Thr152Ile Single submitter Inborn genetic diseases ⚠
- p.Thr172Ala Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Thr239Ala Single submitter carnitine-acylcarnitine translocase deficiency
- p.Thr55Ala Single submitter ⚠
- p.Tyr169Cys Single submitter ⚠
- p.Val204Ala Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Val25Met Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Val88Met Single submitter carnitine-acylcarnitine translocase deficiency ⚠
- p.Pro7Ser No assertion criteria SLC25A20-related disorder ⚠