LIAS — 437 ClinVar variants

All ClinVar germline LIAS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 166 flagged for review →

19 Pathogenic · 2 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 13 Conflicting · 39 Benign · 7 Benign/Likely benign · 164 Likely benign · 182 Uncertain significance

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

⚑ Evidence disagreements 166

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 6

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

LIAS p.Arg249His Conflicting Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg26Gly Conflicting Single submitter
lipoic acid synthetase deficiency
LIAS p.His236Gln Conflicting Single submitter
lipoic acid synthetase deficiency
LIAS p.Phe328Tyr Conflicting Single submitter
LIAS p.Thr11Ser Conflicting Single submitter
Inborn genetic diseases
LIAS p.Thr58Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 139

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

LIAS p.Ala126Thr Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Ala149Gly Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Ala291Val Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Ala8Val Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Ala9Ser Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Arg110Leu Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Arg252Trp Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Arg297Cys Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Arg315Cys Uncertain significance Multiple submitters
Inborn genetic diseases
LIAS p.Asn101Asp Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Asn41Ser Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Asp215Asn Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Asp302Gly Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Asp7Val Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Cys111Ser Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Gln257Glu Uncertain significance Multiple submitters
Inborn genetic diseases
LIAS p.Gln269His Uncertain significance Multiple submitters
Inborn genetic diseases
LIAS p.Glu116Asp Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Glu284Lys Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Gly13Glu Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Gly51Asp Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Lys34Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LIAS p.Lys36Asn Uncertain significance Multiple submitters
Inborn genetic diseases
LIAS p.Met310Ile Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Pro251Ser Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Pro27Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LIAS p.Ser145Thr Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Ser30Phe Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Thr163Ile Uncertain significance Multiple submitters
Inborn genetic diseases
LIAS p.Tyr330His Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Val197Ile Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Ala235Pro Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Ala295Thr Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Ala9Val Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg142Lys Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg15Gln Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg15Pro Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg19Thr Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg260His Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg297Ser Uncertain significance Single submitter
Inborn genetic diseases
LIAS p.Arg314Thr Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg350Cys Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg350His Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg4Cys Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg4Leu Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg98Gln Uncertain significance Single submitter
Inborn genetic diseases
LIAS p.Arg98Trp Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asn162Ser Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asn237Asp Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asn89Ile Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asp135His Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asp181Val Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asp183Gly Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asp184Glu Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asp215Glu Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asp232His Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asp250Asn Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asp286His Uncertain significance Single submitter
LIAS p.Asp371Glu Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asp371Val Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asp47Gly Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asp55Asn Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asp55Glu Uncertain significance Single submitter
LIAS p.Asp7Asn Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Cys117Ser Uncertain significance Single submitter
LIAS p.Cys137Tyr Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Cys211Phe Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Cys22Trp Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Cys5Ser Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Cys5Trp Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Gln257Arg Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Gln40His Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Glu202Lys Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Glu298Asp Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Glu37Val Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Gly120Asp Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Gly121Arg Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Gly13Arg Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Gly140Asp Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Gly346Asp Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Gly6Glu Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.His236Tyr Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.His264Tyr Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.His316Arg Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Ile114Thr Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Ile167Val Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Ile207Ser Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Ile207Val Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Ile273Val Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Ile278Leu Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Ile278Thr Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Leu172Pro Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Leu200Val Uncertain significance Single submitter
LIAS p.Leu228Pro Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Leu306Ser Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Leu348Ser Uncertain significance Single submitter
Inborn genetic diseases
LIAS p.Leu372Phe Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Leu53His Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Leu76Pro Uncertain significance Single submitter
Inborn genetic diseases
LIAS p.Lys206Glu Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Lys225Glu Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Lys263Arg Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Lys294Glu Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Lys366Gln Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Lys366Glu Uncertain significance Single submitter
Inborn genetic diseases
LIAS p.Lys81Arg Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Lys92Thr Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Met131Ile Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Met131Val Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Met133Ile Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Met310Val Uncertain significance Single submitter
Inborn genetic diseases
LIAS p.Met86Thr Uncertain significance Single submitter
Inborn genetic diseases
LIAS p.Phe17Ser Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Pro14His Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Pro242Arg Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Pro242Leu Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Pro24Ala Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Ser158Thr Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Ser198Thr Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Ser2Phe Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Ser2Pro Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Ser57Thr Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Thr129Met Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Thr213Ile Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Thr276Ile Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Thr58Asn Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Thr82Ala Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Thr96Ser Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Trp118Cys Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Tyr199Cys Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Tyr199His Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Tyr20His Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Tyr234Phe Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Tyr290Phe Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Tyr309His Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Tyr353His Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Val180Met Uncertain significance Single submitter
Inborn genetic diseases
LIAS p.Val25Leu Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Val268Ile Uncertain significance Single submitter
lipoic acid synthetase deficiency

Predictors split 21

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

LIAS p.Arg217Gln Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Met293Val Uncertain significance Multiple submitters
lipoic acid synthetase deficiency
LIAS p.Thr213Ala Uncertain significance Multiple submitters
Inborn genetic diseases
LIAS p.Ala295Val Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg10Cys Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg10His Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg297His Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg315His Conflicting Single submitter
lipoic acid synthetase deficiency
LIAS p.Arg73Gly Uncertain significance Single submitter
Inborn genetic diseases
LIAS p.Arg73Thr Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Asp219Glu Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Gly171Asp Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Gly171Ser Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Gly64Glu Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.His103Arg Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Ile223Met Uncertain significance Single submitter
Inborn genetic diseases
LIAS p.Leu12Gln Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Leu220Pro Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Leu338Phe Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Leu74Phe Uncertain significance Single submitter
lipoic acid synthetase deficiency
LIAS p.Lys266Arg Uncertain significance Single submitter
lipoic acid synthetase deficiency

All LIAS variants

Pathogenic 19

p.Asn89fs Multiple submitters lipoic acid synthetase deficiency
p.Glu37fs Multiple submitters lipoic acid synthetase deficiency
p.Lys92_Leu93insTer Multiple submitters lipoic acid synthetase deficiency
p.Thr148fs Multiple submitters lipoic acid synthetase deficiency
p.Ala222Ter Single submitter lipoic acid synthetase deficiency
p.Arg110Ter Single submitter lipoic acid synthetase deficiency
p.Arg73fs Single submitter
p.Asp44fs Single submitter lipoic acid synthetase deficiency
p.Cys22fs Single submitter lipoic acid synthetase deficiency
p.Glu122fs Single submitter lipoic acid synthetase deficiency
p.Glu37Ter Single submitter lipoic acid synthetase deficiency
p.Gly71fs Single submitter lipoic acid synthetase deficiency
p.Leu132fs Single submitter lipoic acid synthetase deficiency
p.Leu231Ter Single submitter Inborn genetic diseases
p.Lys94Ter Single submitter lipoic acid synthetase deficiency
p.Tyr161fs Single submitter lipoic acid synthetase deficiency
p.Tyr174fs Single submitter lipoic acid synthetase deficiency
p.Val334fs Single submitter lipoic acid synthetase deficiency
p.Glu159Lys No assertion criteria lipoic acid synthetase deficiency

Pathogenic/Likely pathogenic 2

p.Arg217Ter Multiple submitters lipoic acid synthetase deficiency
p.Lys34Ter Multiple submitters LIAS-related disorders

Likely pathogenic 11

c.218+1G>A Multiple submitters lipoic acid synthetase deficiency
c.954+1G>A Multiple submitters lipoic acid synthetase deficiency
c.313-38_367del Single submitter lipoic acid synthetase deficiency
c.737+1G>A Single submitter lipoic acid synthetase deficiency
c.884-1G>A Single submitter lipoic acid synthetase deficiency
p.Ala253Pro Single submitter
p.Asp215fs Single submitter lipoic acid synthetase deficiency
p.Thr196Asn Single submitter lipoic acid synthetase deficiency
p.Trp79Ter Single submitter lipoic acid synthetase deficiency
p.Ala355Pro No assertion criteria lipoic acid synthetase deficiency
p.Glu239fs No assertion criteria

Conflicting classifications of pathogenicity 13

c.393+4G>A Single submitter Inborn genetic diseases
c.46-5T>C Single submitter Inborn genetic diseases
c.884-5T>A Single submitter lipoic acid synthetase deficiency
c.-1A>G Single submitter
p.Arg249His Single submitter lipoic acid synthetase deficiency ⚠
p.Arg26Gly Single submitter lipoic acid synthetase deficiency ⚠
p.Arg315His Single submitter lipoic acid synthetase deficiency ⚠
p.His236Gln Single submitter lipoic acid synthetase deficiency ⚠
p.Phe328Tyr Single submitter ⚠
p.Thr11Ser Single submitter Inborn genetic diseases ⚠
p.Thr125= Single submitter lipoic acid synthetase deficiency
p.Thr369fs Single submitter lipoic acid synthetase deficiency
p.Thr58Ile Single submitter Inborn genetic diseases ⚠

Benign 39

c.1066+37G>A Multiple submitters
c.394-27A>G Multiple submitters
c.45+15G>A Multiple submitters lipoic acid synthetase deficiency
c.737+13A>T Multiple submitters lipoic acid synthetase deficiency
c.737+150C>G Multiple submitters
c.884-14T>A Multiple submitters lipoic acid synthetase deficiency
c.884-60T>A Multiple submitters
c.*141T>C Multiple submitters
c.*211C>T Multiple submitters
c.*97G>A Multiple submitters
p.Glu169= Multiple submitters lipoic acid synthetase deficiency
p.Leu102= Multiple submitters lipoic acid synthetase deficiency
c.1066+243A>C Single submitter
c.1066+329G>A Single submitter
c.1067-294G>A Single submitter
c.46-238del Single submitter
c.46-238dup Single submitter
c.609-125T>C Single submitter
c.609-184C>T Single submitter
c.738-234A>C Single submitter
c.884-298_884-297insAACA Single submitter
c.954+146C>T Single submitter
c.954+188C>T Single submitter
c.954+226_954+238del Single submitter
c.954+235_954+238dup Single submitter
c.954+236_954+238dup Single submitter
c.954+236T>C Single submitter
c.954+237_954+238dup Single submitter
c.954+238del Single submitter
c.954+241G>C Single submitter
c.954+244G>A Single submitter
c.954+254T>C Single submitter
c.954+260G>A Single submitter
c.954+269G>A Single submitter
c.954+36_954+37del Single submitter
c.954+37del Single submitter
c.954+37dup Single submitter
c.-32A>T Single submitter
c.-35C>T Single submitter

Benign/Likely benign 7

c.393+10G>A Multiple submitters lipoic acid synthetase deficiency
c.393+8C>A Multiple submitters lipoic acid synthetase deficiency
c.*14C>A Multiple submitters
p.Arg19Ser Multiple submitters lipoic acid synthetase deficiency
p.Asn99= Multiple submitters lipoic acid synthetase deficiency
p.Pro242= Multiple submitters lipoic acid synthetase deficiency
p.Pro43= Multiple submitters lipoic acid synthetase deficiency

Likely benign 164

c.1066+17G>A Multiple submitters lipoic acid synthetase deficiency
c.1066+20A>G Multiple submitters lipoic acid synthetase deficiency
c.313-152C>A Multiple submitters
c.45+161C>T Multiple submitters
c.884-18G>A Multiple submitters lipoic acid synthetase deficiency
c.954+35_954+37del Multiple submitters
p.Gln269= Multiple submitters lipoic acid synthetase deficiency
p.Gly6= Multiple submitters lipoic acid synthetase deficiency
p.Leu38= Multiple submitters lipoic acid synthetase deficiency
p.Thr129= Multiple submitters lipoic acid synthetase deficiency
p.Thr343= Multiple submitters lipoic acid synthetase deficiency
p.Tyr20= Multiple submitters lipoic acid synthetase deficiency
c.1066+12T>C Single submitter lipoic acid synthetase deficiency
c.1066+16G>A Single submitter lipoic acid synthetase deficiency
c.1066+18G>T Single submitter lipoic acid synthetase deficiency
c.1066+19C>T Single submitter lipoic acid synthetase deficiency
c.1066+65C>T Single submitter
c.1067-11T>C Single submitter lipoic acid synthetase deficiency
c.1067-15C>G Single submitter lipoic acid synthetase deficiency
c.1067-258T>A Single submitter
c.218+14T>A Single submitter lipoic acid synthetase deficiency
c.218+15G>A Single submitter lipoic acid synthetase deficiency
c.218+19T>C Single submitter lipoic acid synthetase deficiency
c.218+29G>A Single submitter
c.218+43T>C Single submitter
c.218+7_218+13dup Single submitter lipoic acid synthetase deficiency
c.219-11G>A Single submitter lipoic acid synthetase deficiency
c.219-6C>T Single submitter lipoic acid synthetase deficiency
c.312+15T>A Single submitter lipoic acid synthetase deficiency
c.312+168A>C Single submitter
c.312+17T>G Single submitter lipoic acid synthetase deficiency
c.312+8G>T Single submitter lipoic acid synthetase deficiency
c.313-12T>G Single submitter lipoic acid synthetase deficiency
c.313-14C>T Single submitter lipoic acid synthetase deficiency
c.313-19C>T Single submitter lipoic acid synthetase deficiency
c.313-6A>G Single submitter lipoic acid synthetase deficiency
c.313-7C>T Single submitter lipoic acid synthetase deficiency
c.393+147del Single submitter
c.393+17C>T Single submitter lipoic acid synthetase deficiency
c.393+20C>G Single submitter lipoic acid synthetase deficiency
c.393+7C>A Single submitter lipoic acid synthetase deficiency
c.393+7C>T Single submitter lipoic acid synthetase deficiency
c.45+10G>A Single submitter lipoic acid synthetase deficiency
c.45+12G>A Single submitter lipoic acid synthetase deficiency
c.45+18C>T Single submitter lipoic acid synthetase deficiency
c.45+19G>T Single submitter lipoic acid synthetase deficiency
c.45+20G>T Single submitter lipoic acid synthetase deficiency
c.45+7G>A Single submitter lipoic acid synthetase deficiency
c.46-13A>T Single submitter lipoic acid synthetase deficiency
c.46-16T>C Single submitter lipoic acid synthetase deficiency
c.46-17A>G Single submitter lipoic acid synthetase deficiency
c.46-20A>G Single submitter lipoic acid synthetase deficiency
c.46-239_46-238dup Single submitter
c.46-7T>C Single submitter lipoic acid synthetase deficiency
c.550+11C>T Single submitter lipoic acid synthetase deficiency
c.550+12A>G Single submitter lipoic acid synthetase deficiency
c.550+16T>C Single submitter lipoic acid synthetase deficiency
c.550+20C>T Single submitter lipoic acid synthetase deficiency
c.550+9G>A Single submitter lipoic acid synthetase deficiency
c.551-16A>T Single submitter lipoic acid synthetase deficiency
c.551-19T>C Single submitter lipoic acid synthetase deficiency
c.608+13G>A Single submitter lipoic acid synthetase deficiency
c.608+7A>C Single submitter lipoic acid synthetase deficiency
c.609-13C>T Single submitter lipoic acid synthetase deficiency
c.609-19T>C Single submitter lipoic acid synthetase deficiency
c.609-6C>T Single submitter lipoic acid synthetase deficiency
c.737+10T>G Single submitter lipoic acid synthetase deficiency
c.737+11G>A Single submitter lipoic acid synthetase deficiency
c.737+15A>C Single submitter lipoic acid synthetase deficiency
c.737+20A>T Single submitter lipoic acid synthetase deficiency
c.737+6dup Single submitter lipoic acid synthetase deficiency
c.737+8C>T Single submitter lipoic acid synthetase deficiency
c.737+9G>A Single submitter lipoic acid synthetase deficiency
c.738-14C>T Single submitter lipoic acid synthetase deficiency
c.738-20A>G Single submitter lipoic acid synthetase deficiency
c.738-243A>G Single submitter
c.738-304_738-301del Single submitter
c.738-4C>T Single submitter
c.738-9G>A Single submitter lipoic acid synthetase deficiency
c.883+10T>C Single submitter lipoic acid synthetase deficiency
c.883+15_883+56del Single submitter lipoic acid synthetase deficiency
c.883+15A>T Single submitter lipoic acid synthetase deficiency
c.883+17A>G Single submitter lipoic acid synthetase deficiency
c.883+278A>G Single submitter
c.884-4A>G Single submitter lipoic acid synthetase deficiency
c.954+11C>A Single submitter lipoic acid synthetase deficiency
c.954+123G>A Single submitter
c.954+18dup Single submitter lipoic acid synthetase deficiency
c.954+20C>G Single submitter lipoic acid synthetase deficiency
c.954+20C>T Single submitter lipoic acid synthetase deficiency
c.954+238dup Single submitter
c.954+32T>A Single submitter
c.954+36_954+37dup Single submitter
c.954+8T>C Single submitter lipoic acid synthetase deficiency
c.954+9A>G Single submitter lipoic acid synthetase deficiency
c.955-11T>C Single submitter lipoic acid synthetase deficiency
c.955-13T>G Single submitter lipoic acid synthetase deficiency
c.955-4C>G Single submitter lipoic acid synthetase deficiency
c.955-65A>G Single submitter
c.955-7A>T Single submitter lipoic acid synthetase deficiency
c.-12C>T Single submitter
c.-29C>T Single submitter
c.-45T>C Single submitter
p.Ala126= Single submitter lipoic acid synthetase deficiency
p.Ala227= Single submitter lipoic acid synthetase deficiency
p.Ala235= Single submitter lipoic acid synthetase deficiency
p.Ala355= Single submitter lipoic acid synthetase deficiency
p.Ala8= Single submitter lipoic acid synthetase deficiency
p.Ala9= Single submitter lipoic acid synthetase deficiency
p.Arg110= Single submitter lipoic acid synthetase deficiency
p.Arg56= Single submitter lipoic acid synthetase deficiency
p.Arg98= Single submitter lipoic acid synthetase deficiency
p.Asp135= Single submitter lipoic acid synthetase deficiency
p.Asp300= Single submitter lipoic acid synthetase deficiency
p.Asp371= Single submitter lipoic acid synthetase deficiency
p.Asp47= Single submitter lipoic acid synthetase deficiency
p.Asp7= Single submitter lipoic acid synthetase deficiency
p.Gln308= Single submitter lipoic acid synthetase deficiency
p.Gln40= Single submitter lipoic acid synthetase deficiency
p.Gln46= Single submitter lipoic acid synthetase deficiency
p.Glu321= Single submitter lipoic acid synthetase deficiency
p.Gly140= Single submitter lipoic acid synthetase deficiency
p.Gly18= Single submitter lipoic acid synthetase deficiency
p.Gly283= Single submitter lipoic acid synthetase deficiency
p.Gly356= Single submitter lipoic acid synthetase deficiency
p.His341= Single submitter lipoic acid synthetase deficiency
p.Ile114= Single submitter lipoic acid synthetase deficiency
p.Ile278= Single submitter lipoic acid synthetase deficiency
p.Leu155= Single submitter lipoic acid synthetase deficiency
p.Leu177= Single submitter lipoic acid synthetase deficiency
p.Leu200= Single submitter lipoic acid synthetase deficiency
p.Leu280= Single submitter lipoic acid synthetase deficiency
p.Leu306= Single submitter lipoic acid synthetase deficiency
p.Leu31= Single submitter lipoic acid synthetase deficiency
p.Leu338= Single submitter lipoic acid synthetase deficiency
p.Leu372= Single submitter lipoic acid synthetase deficiency
p.Leu66= Single submitter lipoic acid synthetase deficiency
p.Leu97= Single submitter lipoic acid synthetase deficiency
p.Lys263= Single submitter lipoic acid synthetase deficiency
p.Lys267= Single submitter lipoic acid synthetase deficiency
p.Lys333= Single submitter lipoic acid synthetase deficiency
p.Lys35= Single submitter lipoic acid synthetase deficiency
p.Lys366= Single submitter lipoic acid synthetase deficiency
p.Phe48= Single submitter lipoic acid synthetase deficiency
p.Pro154= Single submitter lipoic acid synthetase deficiency
p.Pro205= Single submitter lipoic acid synthetase deficiency
p.Pro27= Single submitter lipoic acid synthetase deficiency
p.Pro325= Single submitter lipoic acid synthetase deficiency
p.Pro347= Single submitter lipoic acid synthetase deficiency
p.Pro77= Single submitter lipoic acid synthetase deficiency
p.Pro78= Single submitter lipoic acid synthetase deficiency
p.Ser23= Single submitter lipoic acid synthetase deficiency
p.Ter373= Single submitter lipoic acid synthetase deficiency
p.Thr136= Single submitter
p.Thr196= Single submitter lipoic acid synthetase deficiency
p.Tyr199= Single submitter lipoic acid synthetase deficiency
p.Tyr330= Single submitter lipoic acid synthetase deficiency
p.Tyr62= Single submitter lipoic acid synthetase deficiency
p.Val105= Single submitter lipoic acid synthetase deficiency
p.Val238= Single submitter lipoic acid synthetase deficiency
p.Val241= Single submitter lipoic acid synthetase deficiency
p.Val289= Single submitter lipoic acid synthetase deficiency
p.Val49= Single submitter lipoic acid synthetase deficiency
c.608+9T>G No assertion criteria LIAS-related disorder

Uncertain significance 182

p.Ala126Thr Multiple submitters lipoic acid synthetase deficiency ⚠
p.Ala149Gly Multiple submitters lipoic acid synthetase deficiency ⚠
p.Ala291Val Multiple submitters lipoic acid synthetase deficiency ⚠
p.Ala8Val Multiple submitters lipoic acid synthetase deficiency ⚠
p.Ala9Ser Multiple submitters lipoic acid synthetase deficiency ⚠
p.Arg110Leu Multiple submitters lipoic acid synthetase deficiency ⚠
p.Arg217Gln Multiple submitters lipoic acid synthetase deficiency ⚠
p.Arg252Trp Multiple submitters lipoic acid synthetase deficiency ⚠
p.Arg297Cys Multiple submitters lipoic acid synthetase deficiency ⚠
p.Arg315Cys Multiple submitters Inborn genetic diseases ⚠
p.Asn101Asp Multiple submitters lipoic acid synthetase deficiency ⚠
p.Asn41Ser Multiple submitters lipoic acid synthetase deficiency ⚠
p.Asp215Asn Multiple submitters lipoic acid synthetase deficiency ⚠
p.Asp302Gly Multiple submitters lipoic acid synthetase deficiency ⚠
p.Asp7Val Multiple submitters lipoic acid synthetase deficiency ⚠
p.Cys111Ser Multiple submitters lipoic acid synthetase deficiency ⚠
p.Gln257Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln269His Multiple submitters Inborn genetic diseases ⚠
p.Glu116Asp Multiple submitters lipoic acid synthetase deficiency ⚠
p.Glu284Lys Multiple submitters lipoic acid synthetase deficiency ⚠
p.Gly13Glu Multiple submitters lipoic acid synthetase deficiency ⚠
p.Gly189Val Multiple submitters lipoic acid synthetase deficiency
p.Gly51Asp Multiple submitters lipoic acid synthetase deficiency ⚠
p.Lys34Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys36Asn Multiple submitters Inborn genetic diseases ⚠
p.Met293Val Multiple submitters lipoic acid synthetase deficiency ⚠
p.Met310Ile Multiple submitters lipoic acid synthetase deficiency ⚠
p.Pro251Ser Multiple submitters lipoic acid synthetase deficiency ⚠
p.Pro27Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser145Thr Multiple submitters lipoic acid synthetase deficiency ⚠
p.Ser30Phe Multiple submitters lipoic acid synthetase deficiency ⚠
p.Thr163Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr213Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr343Ile Multiple submitters Inborn genetic diseases
p.Tyr330His Multiple submitters lipoic acid synthetase deficiency ⚠
p.Val197Ile Multiple submitters lipoic acid synthetase deficiency ⚠
c.218+4A>G Single submitter lipoic acid synthetase deficiency
c.299+1682_299+1690del Single submitter lipoic acid synthetase deficiency
c.393+6G>T Single submitter lipoic acid synthetase deficiency
c.393+7C>G Single submitter lipoic acid synthetase deficiency
c.394-5T>C Single submitter
c.394-6T>C Single submitter lipoic acid synthetase deficiency
c.550+4A>G Single submitter lipoic acid synthetase deficiency
c.883+6G>T Single submitter lipoic acid synthetase deficiency
c.884-3C>A Single submitter lipoic acid synthetase deficiency
c.954+2dup Single submitter lipoic acid synthetase deficiency
c.954+3A>G Single submitter lipoic acid synthetase deficiency
c.955-3T>G Single submitter lipoic acid synthetase deficiency
p.Ala235Pro Single submitter lipoic acid synthetase deficiency ⚠
p.Ala295Thr Single submitter lipoic acid synthetase deficiency ⚠
p.Ala295Val Single submitter lipoic acid synthetase deficiency ⚠
p.Ala9Val Single submitter lipoic acid synthetase deficiency ⚠
p.Arg10Cys Single submitter lipoic acid synthetase deficiency ⚠
p.Arg10His Single submitter lipoic acid synthetase deficiency ⚠
p.Arg110Gln Single submitter lipoic acid synthetase deficiency
p.Arg142Lys Single submitter lipoic acid synthetase deficiency ⚠
p.Arg15Gln Single submitter lipoic acid synthetase deficiency ⚠
p.Arg15Pro Single submitter lipoic acid synthetase deficiency ⚠
p.Arg19Thr Single submitter lipoic acid synthetase deficiency ⚠
p.Arg260His Single submitter lipoic acid synthetase deficiency ⚠
p.Arg297His Single submitter lipoic acid synthetase deficiency ⚠
p.Arg297Ser Single submitter Inborn genetic diseases ⚠
p.Arg314Thr Single submitter lipoic acid synthetase deficiency ⚠
p.Arg350Cys Single submitter lipoic acid synthetase deficiency ⚠
p.Arg350His Single submitter lipoic acid synthetase deficiency ⚠
p.Arg4Cys Single submitter lipoic acid synthetase deficiency ⚠
p.Arg4Leu Single submitter lipoic acid synthetase deficiency ⚠
p.Arg73Gly Single submitter Inborn genetic diseases ⚠
p.Arg73Thr Single submitter lipoic acid synthetase deficiency ⚠
p.Arg98Gln Single submitter Inborn genetic diseases ⚠
p.Arg98Trp Single submitter lipoic acid synthetase deficiency ⚠
p.Asn162Ser Single submitter lipoic acid synthetase deficiency ⚠
p.Asn237Asp Single submitter lipoic acid synthetase deficiency ⚠
p.Asn89Ile Single submitter lipoic acid synthetase deficiency ⚠
p.Asp135His Single submitter lipoic acid synthetase deficiency ⚠
p.Asp156Tyr Single submitter lipoic acid synthetase deficiency
p.Asp181Val Single submitter lipoic acid synthetase deficiency ⚠
p.Asp183Gly Single submitter lipoic acid synthetase deficiency ⚠
p.Asp184Glu Single submitter lipoic acid synthetase deficiency ⚠
p.Asp215Glu Single submitter lipoic acid synthetase deficiency ⚠
p.Asp219Glu Single submitter lipoic acid synthetase deficiency ⚠
p.Asp232His Single submitter lipoic acid synthetase deficiency ⚠
p.Asp250Asn Single submitter lipoic acid synthetase deficiency ⚠
p.Asp286His Single submitter ⚠
p.Asp371Glu Single submitter lipoic acid synthetase deficiency ⚠
p.Asp371Val Single submitter lipoic acid synthetase deficiency ⚠
p.Asp47Gly Single submitter lipoic acid synthetase deficiency ⚠
p.Asp55Asn Single submitter lipoic acid synthetase deficiency ⚠
p.Asp55Glu Single submitter ⚠
p.Asp7Asn Single submitter lipoic acid synthetase deficiency ⚠
p.Cys117Ser Single submitter ⚠
p.Cys137Tyr Single submitter lipoic acid synthetase deficiency ⚠
p.Cys211Phe Single submitter lipoic acid synthetase deficiency ⚠
p.Cys22Trp Single submitter lipoic acid synthetase deficiency ⚠
p.Cys5Ser Single submitter lipoic acid synthetase deficiency ⚠
p.Cys5Trp Single submitter lipoic acid synthetase deficiency ⚠
p.Gln245Glu Single submitter Inborn genetic diseases
p.Gln257Arg Single submitter lipoic acid synthetase deficiency ⚠
p.Gln40His Single submitter lipoic acid synthetase deficiency ⚠
p.Glu202Lys Single submitter lipoic acid synthetase deficiency ⚠
p.Glu298Asp Single submitter lipoic acid synthetase deficiency ⚠
p.Glu37Val Single submitter lipoic acid synthetase deficiency ⚠
p.Gly120_Gly121del Single submitter lipoic acid synthetase deficiency
p.Gly120Asp Single submitter lipoic acid synthetase deficiency ⚠
p.Gly121Arg Single submitter lipoic acid synthetase deficiency ⚠
p.Gly13Arg Single submitter lipoic acid synthetase deficiency ⚠
p.Gly140Asp Single submitter lipoic acid synthetase deficiency ⚠
p.Gly171Asp Single submitter lipoic acid synthetase deficiency ⚠
p.Gly171Ser Single submitter lipoic acid synthetase deficiency ⚠
p.Gly188Ala Single submitter lipoic acid synthetase deficiency
p.Gly346Asp Single submitter lipoic acid synthetase deficiency ⚠
p.Gly64Glu Single submitter lipoic acid synthetase deficiency ⚠
p.Gly6Glu Single submitter lipoic acid synthetase deficiency ⚠
p.His103Arg Single submitter lipoic acid synthetase deficiency ⚠
p.His236Tyr Single submitter lipoic acid synthetase deficiency ⚠
p.His264Tyr Single submitter lipoic acid synthetase deficiency ⚠
p.His316Arg Single submitter lipoic acid synthetase deficiency ⚠
p.Ile114Thr Single submitter lipoic acid synthetase deficiency ⚠
p.Ile167Val Single submitter lipoic acid synthetase deficiency ⚠
p.Ile207Ser Single submitter lipoic acid synthetase deficiency ⚠
p.Ile207Val Single submitter lipoic acid synthetase deficiency ⚠
p.Ile223Met Single submitter Inborn genetic diseases ⚠
p.Ile273Val Single submitter lipoic acid synthetase deficiency ⚠
p.Ile278Leu Single submitter lipoic acid synthetase deficiency ⚠
p.Ile278Thr Single submitter lipoic acid synthetase deficiency ⚠
p.Leu100Ile Single submitter lipoic acid synthetase deficiency
p.Leu12Gln Single submitter lipoic acid synthetase deficiency ⚠
p.Leu172Pro Single submitter lipoic acid synthetase deficiency ⚠
p.Leu200Val Single submitter ⚠
p.Leu220Pro Single submitter lipoic acid synthetase deficiency ⚠
p.Leu228Pro Single submitter lipoic acid synthetase deficiency ⚠
p.Leu306Ser Single submitter lipoic acid synthetase deficiency ⚠
p.Leu338Phe Single submitter lipoic acid synthetase deficiency ⚠
p.Leu348Ser Single submitter Inborn genetic diseases ⚠
p.Leu372Phe Single submitter lipoic acid synthetase deficiency ⚠
p.Leu53His Single submitter lipoic acid synthetase deficiency ⚠
p.Leu74Phe Single submitter lipoic acid synthetase deficiency ⚠
p.Leu76Pro Single submitter Inborn genetic diseases ⚠
p.Lys206Glu Single submitter lipoic acid synthetase deficiency ⚠
p.Lys225Glu Single submitter lipoic acid synthetase deficiency ⚠
p.Lys263Arg Single submitter lipoic acid synthetase deficiency ⚠
p.Lys266Arg Single submitter lipoic acid synthetase deficiency ⚠
p.Lys294Glu Single submitter lipoic acid synthetase deficiency ⚠
p.Lys366Gln Single submitter lipoic acid synthetase deficiency ⚠
p.Lys366Glu Single submitter Inborn genetic diseases ⚠
p.Lys81Arg Single submitter lipoic acid synthetase deficiency ⚠
p.Lys92Thr Single submitter lipoic acid synthetase deficiency ⚠
p.Met131Ile Single submitter lipoic acid synthetase deficiency ⚠
p.Met131Val Single submitter lipoic acid synthetase deficiency ⚠
p.Met133Ile Single submitter lipoic acid synthetase deficiency ⚠
p.Met1Leu Single submitter lipoic acid synthetase deficiency
p.Met310Val Single submitter Inborn genetic diseases ⚠
p.Met86Thr Single submitter Inborn genetic diseases ⚠
p.Phe17Ser Single submitter lipoic acid synthetase deficiency ⚠
p.Pro14His Single submitter lipoic acid synthetase deficiency ⚠
p.Pro242Arg Single submitter lipoic acid synthetase deficiency ⚠
p.Pro242Leu Single submitter lipoic acid synthetase deficiency ⚠
p.Pro24Ala Single submitter lipoic acid synthetase deficiency ⚠
p.Ser158Thr Single submitter lipoic acid synthetase deficiency ⚠
p.Ser198Thr Single submitter lipoic acid synthetase deficiency ⚠
p.Ser2Phe Single submitter lipoic acid synthetase deficiency ⚠
p.Ser2Pro Single submitter lipoic acid synthetase deficiency ⚠
p.Ser57Thr Single submitter lipoic acid synthetase deficiency ⚠
p.Thr104= Single submitter lipoic acid synthetase deficiency
p.Thr129Met Single submitter lipoic acid synthetase deficiency ⚠
p.Thr213Ile Single submitter lipoic acid synthetase deficiency ⚠
p.Thr276Ile Single submitter lipoic acid synthetase deficiency ⚠
p.Thr58Asn Single submitter lipoic acid synthetase deficiency ⚠
p.Thr82Ala Single submitter lipoic acid synthetase deficiency ⚠
p.Thr96Ser Single submitter lipoic acid synthetase deficiency ⚠
p.Trp118Cys Single submitter lipoic acid synthetase deficiency ⚠
p.Tyr199Cys Single submitter lipoic acid synthetase deficiency ⚠
p.Tyr199His Single submitter lipoic acid synthetase deficiency ⚠
p.Tyr20His Single submitter lipoic acid synthetase deficiency ⚠
p.Tyr234Phe Single submitter lipoic acid synthetase deficiency ⚠
p.Tyr290Phe Single submitter lipoic acid synthetase deficiency ⚠
p.Tyr309His Single submitter lipoic acid synthetase deficiency ⚠
p.Tyr353His Single submitter lipoic acid synthetase deficiency ⚠
p.Val105Ile Single submitter lipoic acid synthetase deficiency
p.Val180Met Single submitter Inborn genetic diseases ⚠
p.Val25Leu Single submitter lipoic acid synthetase deficiency ⚠
p.Val268Ile Single submitter lipoic acid synthetase deficiency ⚠