Sugi Variant

Sugi Variant/FARS2

FARS2 — 541 ClinVar variants

All ClinVar germline FARS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 239 flagged for review →

24 Pathogenic · 10 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 24 Conflicting · 35 Benign · 10 Benign/Likely benign · 170 Likely benign · 245 Uncertain significance

Full FARS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 239

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 16

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

Predictors lean, ClinVar uncertain 151

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 151

Predictors split 66

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

All FARS2 variants

Pathogenic 24

  • p.Gln216Ter Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Tyr144Cys Multiple submitters FARS2-related disorder
  • p.Tyr267Ter Multiple submitters combined oxidative phosphorylation defect type 14
  • c.1218-73_1289delinsC Single submitter combined oxidative phosphorylation defect type 14
  • p.Asp142fs Single submitter combined oxidative phosphorylation defect type 14
  • p.Asp142Tyr Single submitter hereditary spastic paraplegia 77
  • p.Gln296Ter Single submitter combined oxidative phosphorylation defect type 14
  • p.Glu91Ter Single submitter combined oxidative phosphorylation defect type 14
  • p.Gly292_Val293insTer Single submitter combined oxidative phosphorylation defect type 14
  • p.His22fs Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu168fs Single submitter combined oxidative phosphorylation defect type 14
  • p.Met1Val Single submitter combined oxidative phosphorylation defect type 14
  • p.Ser4Ter Single submitter combined oxidative phosphorylation defect type 14
  • p.Thr232fs Single submitter combined oxidative phosphorylation defect type 14
  • p.Thr271fs Single submitter combined oxidative phosphorylation defect type 14
  • p.Trp310Ter Single submitter combined oxidative phosphorylation defect type 14
  • p.Trp333Ter Single submitter combined oxidative phosphorylation defect type 14
  • p.Trp370_Leu371delinsTer Single submitter combined oxidative phosphorylation defect type 14
  • p.Trp370Ter Single submitter combined oxidative phosphorylation defect type 14
  • p.Trp87Ter Single submitter combined oxidative phosphorylation defect type 14
  • p.Tyr376Ter Single submitter combined oxidative phosphorylation defect type 14
  • c.(?_-4 No assertion criteria combined oxidative phosphorylation defect type 14
  • p.His84Pro No assertion criteria combined oxidative phosphorylation defect type 14
  • p.Leu371Phe No assertion criteria combined oxidative phosphorylation defect type 14 ⚠

Pathogenic/Likely pathogenic 10

  • p.Arg307Ter Multiple submitters FARS2-related disorder
  • p.Arg386Ter Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Arg419Cys Multiple submitters hereditary spastic paraplegia 77 ⚠
  • p.Arg419His Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Asp265fs Multiple submitters Leigh syndrome
  • p.Gln100Ter Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Gly309Ser Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Leu316fs Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Pro361Leu Multiple submitters Inborn genetic diseases
  • p.Thr156Met Multiple submitters FARS2-related disorder ⚠

Likely pathogenic 23

  • c.613-2A>G Single submitter combined oxidative phosphorylation defect type 14
  • c.772+2T>A Single submitter combined oxidative phosphorylation defect type 14
  • c.904+1G>T Single submitter
  • c.905-1G>A Single submitter combined oxidative phosphorylation defect type 14
  • p.Arg318fs Single submitter combined oxidative phosphorylation defect type 14
  • p.Arg415His Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg419Leu Single submitter combined oxidative phosphorylation defect type 14
  • p.Asp142Asn Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asp142Gly Single submitter combined oxidative phosphorylation defect type 14
  • p.Asp181Asn Single submitter combined oxidative phosphorylation defect type 14
  • p.Asp325Tyr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asp391Val Single submitter combined oxidative phosphorylation defect type 14
  • p.Gly309Arg Single submitter combined oxidative phosphorylation defect type 14
  • p.His135Asp Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.His83fs Single submitter Leigh syndrome
  • p.Ile329Thr Single submitter combined oxidative phosphorylation defect type 14
  • p.Ile388Ser Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Phe402Ser Single submitter combined oxidative phosphorylation defect type 14
  • p.Pro47fs Single submitter FARS2-related disorder
  • p.Ser274fs Single submitter combined oxidative phosphorylation defect type 14
  • p.Ser426Ter Single submitter combined oxidative phosphorylation defect type 14
  • p.Val120_Thr121del Single submitter combined oxidative phosphorylation defect type 14
  • p.Val177Asp Single submitter combined oxidative phosphorylation defect type 14

Conflicting classifications of pathogenicity 24

  • p.Ala154Val Single submitter hereditary spastic paraplegia 77 ⚠
  • p.Ala166Val Single submitter hereditary spastic paraplegia 77 ⚠
  • p.Ala170Gly Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala377Thr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg223Cys Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg338His Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg386Gly Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg7Ser Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asn115Ser Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asp169Val Single submitter combined oxidative phosphorylation defect type 14
  • p.Cys334Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln427Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.His159Pro Single submitter hereditary spastic paraplegia 77 ⚠
  • p.His226Tyr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ile209Val Single submitter Inborn genetic diseases ⚠
  • p.Ile89Met Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Lys351Gln Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Lys353Gln Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Met251Val Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Pro136His Single submitter FARS2-related disorder ⚠
  • p.Pro85Ala Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ser34Leu Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Thr407Met Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Val197Met Single submitter combined oxidative phosphorylation defect type 14

Benign 35

Benign/Likely benign 10

  • p.Ala154= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Arg338= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Asp61= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Cys291= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.His96= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Lys202= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Pro273= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Ser57Cys Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Thr246Met Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Val173= Multiple submitters combined oxidative phosphorylation defect type 14

Likely benign 170

  • c.1066-15C>G Multiple submitters combined oxidative phosphorylation defect type 14
  • c.1218-67C>A Multiple submitters
  • c.612+261G>A Multiple submitters
  • p.Ala166= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Ala196= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Ala207= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Ala225= Multiple submitters Inborn genetic diseases
  • p.Ala436= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Arg318= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Asp328= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Gln124= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Glu448= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Gly315= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.His165= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.His282= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.His432= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Leu71= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Lys69= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Phe200= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Pro108= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Pro118= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Pro361= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Ser24= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Thr232= Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Tyr376= Multiple submitters combined oxidative phosphorylation defect type 14
  • c.1065+14C>G Single submitter combined oxidative phosphorylation defect type 14
  • c.1066-10G>A Single submitter combined oxidative phosphorylation defect type 14
  • c.1066-12_1066-11del Single submitter combined oxidative phosphorylation defect type 14
  • c.1066-12T>A Single submitter combined oxidative phosphorylation defect type 14
  • c.1066-12T>C Single submitter combined oxidative phosphorylation defect type 14
  • c.1066-13C>T Single submitter combined oxidative phosphorylation defect type 14
  • c.1066-15C>T Single submitter combined oxidative phosphorylation defect type 14
  • c.1066-17T>C Single submitter combined oxidative phosphorylation defect type 14
  • c.1066-19T>C Single submitter combined oxidative phosphorylation defect type 14
  • c.1066-20T>G Single submitter combined oxidative phosphorylation defect type 14
  • c.1066-225T>C Single submitter
  • c.1066-5G>T Single submitter combined oxidative phosphorylation defect type 14
  • c.1066-7_1066-3del Single submitter combined oxidative phosphorylation defect type 14
  • c.1066-9T>G Single submitter combined oxidative phosphorylation defect type 14
  • c.1217+11del Single submitter
  • c.1218-5T>C Single submitter combined oxidative phosphorylation defect type 14
  • c.1218-7T>C Single submitter combined oxidative phosphorylation defect type 14
  • c.1218-9T>A Single submitter combined oxidative phosphorylation defect type 14
  • c.612+10G>C Single submitter
  • c.612+12G>A Single submitter combined oxidative phosphorylation defect type 14
  • c.612+14T>A Single submitter combined oxidative phosphorylation defect type 14
  • c.612+19C>A Single submitter combined oxidative phosphorylation defect type 14
  • c.612+48T>G Single submitter
  • c.613-10T>G Single submitter combined oxidative phosphorylation defect type 14
  • c.613-11T>A Single submitter combined oxidative phosphorylation defect type 14
  • c.613-11T>C Single submitter combined oxidative phosphorylation defect type 14
  • c.613-13T>C Single submitter combined oxidative phosphorylation defect type 14
  • c.613-15C>A Single submitter combined oxidative phosphorylation defect type 14
  • c.613-16del Single submitter combined oxidative phosphorylation defect type 14
  • c.613-18T>C Single submitter combined oxidative phosphorylation defect type 14
  • c.613-4A>G Single submitter combined oxidative phosphorylation defect type 14
  • c.613-9G>C Single submitter combined oxidative phosphorylation defect type 14
  • c.772+11A>T Single submitter combined oxidative phosphorylation defect type 14
  • c.772+17A>C Single submitter combined oxidative phosphorylation defect type 14
  • c.772+20T>C Single submitter combined oxidative phosphorylation defect type 14
  • c.772+25G>A Single submitter
  • c.772+7G>A Single submitter combined oxidative phosphorylation defect type 14
  • c.773-17C>T Single submitter combined oxidative phosphorylation defect type 14
  • c.773-7T>C Single submitter combined oxidative phosphorylation defect type 14
  • c.773-9A>C Single submitter combined oxidative phosphorylation defect type 14
  • c.904+11A>T Single submitter combined oxidative phosphorylation defect type 14
  • c.904+142G>A Single submitter
  • c.904+16A>G Single submitter combined oxidative phosphorylation defect type 14
  • c.904+16del Single submitter combined oxidative phosphorylation defect type 14
  • c.904+18A>G Single submitter combined oxidative phosphorylation defect type 14
  • c.904+9G>C Single submitter combined oxidative phosphorylation defect type 14
  • c.904+9G>T Single submitter combined oxidative phosphorylation defect type 14
  • c.905-10C>T Single submitter combined oxidative phosphorylation defect type 14
  • c.905-20A>C Single submitter combined oxidative phosphorylation defect type 14
  • c.905-40G>A Single submitter
  • c.905-45A>G Single submitter
  • c.905-5C>T Single submitter combined oxidative phosphorylation defect type 14
  • c.-21-272C>T Single submitter
  • c.-22+62G>C Single submitter
  • p.Ala158= Single submitter combined oxidative phosphorylation defect type 14
  • p.Ala235= Single submitter combined oxidative phosphorylation defect type 14
  • p.Ala302= Single submitter combined oxidative phosphorylation defect type 14
  • p.Ala311= Single submitter combined oxidative phosphorylation defect type 14
  • p.Ala42= Single submitter combined oxidative phosphorylation defect type 14
  • p.Ala46= Single submitter combined oxidative phosphorylation defect type 14
  • p.Arg104= Single submitter combined oxidative phosphorylation defect type 14
  • p.Arg148= Single submitter combined oxidative phosphorylation defect type 14
  • p.Arg223= Single submitter combined oxidative phosphorylation defect type 14
  • p.Arg262= Single submitter combined oxidative phosphorylation defect type 14
  • p.Arg423= Single submitter combined oxidative phosphorylation defect type 14
  • p.Arg431= Single submitter combined oxidative phosphorylation defect type 14
  • p.Arg45Gly Single submitter Inborn genetic diseases
  • p.Arg68= Single submitter combined oxidative phosphorylation defect type 14
  • p.Arg76= Single submitter
  • p.Asn347= Single submitter combined oxidative phosphorylation defect type 14
  • p.Asn77= Single submitter combined oxidative phosphorylation defect type 14
  • p.Asp114= Single submitter combined oxidative phosphorylation defect type 14
  • p.Asp162= Single submitter combined oxidative phosphorylation defect type 14
  • p.Asp242= Single submitter combined oxidative phosphorylation defect type 14
  • p.Asp336= Single submitter combined oxidative phosphorylation defect type 14
  • p.Asp400= Single submitter combined oxidative phosphorylation defect type 14
  • p.Cys266= Single submitter combined oxidative phosphorylation defect type 14
  • p.Gln100= Single submitter combined oxidative phosphorylation defect type 14
  • p.Gln182= Single submitter combined oxidative phosphorylation defect type 14
  • p.Gln245= Single submitter combined oxidative phosphorylation defect type 14
  • p.Gln28= Single submitter combined oxidative phosphorylation defect type 14
  • p.Gln297= Single submitter combined oxidative phosphorylation defect type 14
  • p.Glu258= Single submitter combined oxidative phosphorylation defect type 14
  • p.Glu284= Single submitter combined oxidative phosphorylation defect type 14
  • p.Glu337= Single submitter combined oxidative phosphorylation defect type 14
  • p.Glu40= Single submitter combined oxidative phosphorylation defect type 14
  • p.Gly256= Single submitter combined oxidative phosphorylation defect type 14
  • p.Gly292= Single submitter combined oxidative phosphorylation defect type 14
  • p.Gly303= Single submitter
  • p.His150= Single submitter combined oxidative phosphorylation defect type 14
  • p.Ile183= Single submitter combined oxidative phosphorylation defect type 14
  • p.Ile190= Single submitter combined oxidative phosphorylation defect type 14
  • p.Ile261Val Single submitter combined oxidative phosphorylation defect type 14
  • p.Ile279= Single submitter combined oxidative phosphorylation defect type 14
  • p.Ile308= Single submitter combined oxidative phosphorylation defect type 14
  • p.Ile348= Single submitter combined oxidative phosphorylation defect type 14
  • p.Ile364= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu109= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu129= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu130= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu164= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu199= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu215= Single submitter
  • p.Leu217= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu250= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu259= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu286= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu298= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu314= Single submitter
  • p.Leu319= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu331= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu425= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu54= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu78= Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu88= Single submitter combined oxidative phosphorylation defect type 14
  • p.Lys353= Single submitter
  • p.Lys90= Single submitter combined oxidative phosphorylation defect type 14
  • p.Phe126= Single submitter combined oxidative phosphorylation defect type 14
  • p.Phe171= Single submitter combined oxidative phosphorylation defect type 14
  • p.Phe268= Single submitter combined oxidative phosphorylation defect type 14
  • p.Phe312= Single submitter combined oxidative phosphorylation defect type 14
  • p.Phe354= Single submitter combined oxidative phosphorylation defect type 14
  • p.Pro132= Single submitter
  • p.Pro136= Single submitter combined oxidative phosphorylation defect type 14
  • p.Pro36= Single submitter combined oxidative phosphorylation defect type 14
  • p.Pro372= Single submitter combined oxidative phosphorylation defect type 14
  • p.Pro47= Single submitter combined oxidative phosphorylation defect type 14
  • p.Ser111= Single submitter combined oxidative phosphorylation defect type 14
  • p.Ser185= Single submitter combined oxidative phosphorylation defect type 14
  • p.Ser224= Single submitter combined oxidative phosphorylation defect type 14
  • p.Ter452= Single submitter combined oxidative phosphorylation defect type 14
  • p.Thr121= Single submitter combined oxidative phosphorylation defect type 14
  • p.Thr246= Single submitter combined oxidative phosphorylation defect type 14
  • p.Thr407= Single submitter combined oxidative phosphorylation defect type 14
  • p.Thr410= Single submitter combined oxidative phosphorylation defect type 14
  • p.Thr417= Single submitter combined oxidative phosphorylation defect type 14
  • p.Thr67= Single submitter combined oxidative phosphorylation defect type 14
  • p.Tyr324= Single submitter combined oxidative phosphorylation defect type 14
  • p.Tyr98= Single submitter combined oxidative phosphorylation defect type 14
  • p.Val2= Single submitter combined oxidative phosphorylation defect type 14
  • p.Val345= Single submitter
  • p.Val403= Single submitter combined oxidative phosphorylation defect type 14
  • p.Val447= Single submitter combined oxidative phosphorylation defect type 14
  • p.Val50= Single submitter combined oxidative phosphorylation defect type 14
  • p.Gly3Val No assertion criteria intellectual disability

Uncertain significance 245

  • p.Ala10Thr Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala166Thr Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala225Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala235Val Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala252Gly Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg104Cys Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg104His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg148Gln Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg180Cys Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Arg330Cys Multiple submitters hereditary spastic paraplegia 77 ⚠
  • p.Arg330His Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg330Ser Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg338Cys Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg338Ser Multiple submitters Inborn genetic diseases
  • p.Arg415Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg423Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg423Trp Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg68Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn300Ser Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Asn365Ser Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Asp184Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp325Asn Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Asp62Tyr Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Glu213Gly Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Glu234Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu337Lys Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Glu95Gly Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Gly292Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly303Ser Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Gly390_Asp391del Multiple submitters combined oxidative phosphorylation defect type 14
  • p.Gly449Arg Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.His27Arg Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Ile261Leu Multiple submitters hereditary spastic paraplegia 77 ⚠
  • p.Leu172Pro Multiple submitters hereditary spastic paraplegia 77 ⚠
  • p.Leu319Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Leu357Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu6Pro Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Lys210Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys244Gln Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Lys69Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Met233Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met251Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met421Val Multiple submitters Inborn genetic diseases ⚠
  • p.Pro108Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro47Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser137Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser301Leu Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Thr121Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr121Met Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr324Cys Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Val174del Multiple submitters hereditary spastic paraplegia 77
  • p.Val236Met Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Val352Leu Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • p.Val396Ile Multiple submitters combined oxidative phosphorylation defect type 14 ⚠
  • c.1065+5G>A Single submitter
  • c.1065+9040A>G Single submitter
  • c.1066-3T>G Single submitter combined oxidative phosphorylation defect type 14
  • c.1217+44796C>T Single submitter
  • c.1217+4A>G Single submitter combined oxidative phosphorylation defect type 14
  • c.1217+73642G>T Single submitter
  • c.1217+75319G>C Single submitter
  • c.1218-33495A>G Single submitter
  • c.772+3A>G Single submitter combined oxidative phosphorylation defect type 14
  • c.772+4A>C Single submitter combined oxidative phosphorylation defect type 14
  • c.772+4A>G Single submitter combined oxidative phosphorylation defect type 14
  • c.773-6T>A Single submitter Inborn genetic diseases
  • c.773-9A>G Single submitter
  • c.904+3A>G Single submitter combined oxidative phosphorylation defect type 14
  • c.-21-16757A>G Single submitter
  • c.-21-42351G>A Single submitter
  • c.-21A>G Single submitter
  • c.*4C>T Single submitter combined oxidative phosphorylation defect type 14
  • p.Ala154Thr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala170Thr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala170Val Single submitter FARS2-related disorder ⚠
  • p.Ala196Ser Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala207Ser Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala225Thr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala252Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala252Thr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala302Ser Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala302Val Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala304Val Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala311Val Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala31Thr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala320Ser Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala320Thr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala362Ser Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala362Thr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala38Glu Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala42Val Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala436Ser Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ala436Thr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg104Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg138Lys Single submitter ⚠
  • p.Arg148Trp Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg180His Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg198Gln Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg198Leu Single submitter combined oxidative phosphorylation defect type 14
  • p.Arg198Trp Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg223His Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg223Pro Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg307Gln Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg307Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg386Gln Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg428Gly Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg431Ser Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Arg7Lys Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asn147Lys Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asn365His Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asn65Ile Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asn77Ile Single submitter combined oxidative phosphorylation defect type 14
  • p.Asp114Asn Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asp142Glu Single submitter combined oxidative phosphorylation defect type 14
  • p.Asp176Glu Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asp211Asn Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asp257= Single submitter combined oxidative phosphorylation defect type 14
  • p.Asp306Tyr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asp336Asn Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asp380Tyr Single submitter autosomal dominant Alport syndrome ⚠
  • p.Asp391Glu Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asp400Gly Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asp61Glu Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Asp62Asn Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Cys344Tyr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gln182Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gln193Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gln216Glu Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gln228Pro Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gln305Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gln30Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln350His Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gln355Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gln438Glu Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gln438Lys Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gln44Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Glu195= Single submitter combined oxidative phosphorylation defect type 14
  • p.Glu219Gln Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Glu284Asp Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Glu335Val Single submitter hereditary spastic paraplegia 77 ⚠
  • p.Glu374Asp Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Glu374Lys Single submitter ⚠
  • p.Glu394Gly Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Glu40Asp Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gly103Ala Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gly103Val Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gly106Val Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gly212Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gly390Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly3Ser Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Gly75Val Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.His135Gln Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.His159Gln Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.His159Tyr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.His192Pro Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.His226Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.His231Leu Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.His253Arg Single submitter Inborn genetic diseases ⚠
  • p.His272Pro Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.His29Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.His404Gln Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.His404Tyr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.His408Pro Single submitter ⚠
  • p.His412Arg Single submitter Inborn genetic diseases ⚠
  • p.His420Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.His63Asn Single submitter ⚠
  • p.Ile209Thr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ile23Asn Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ile308Val Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ile326Val Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ile329Val Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ile388Thr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Leu130Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Leu130Phe Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Leu152Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Leu199Phe Single submitter
  • p.Leu217Val Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Leu250Phe Single submitter combined oxidative phosphorylation defect type 14
  • p.Leu298Val Single submitter Inborn genetic diseases ⚠
  • p.Leu392Val Single submitter Inborn genetic diseases ⚠
  • p.Leu398His Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Leu444fs Single submitter
  • p.Leu444Pro Single submitter combined oxidative phosphorylation defect type 14
  • p.Lys210Asn Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Lys227Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys353Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Lys406= Single submitter combined oxidative phosphorylation defect type 14
  • p.Lys406Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Lys409Asn Single submitter
  • p.Lys56Ile Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Lys94Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys99Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Lys99Asn Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Met151Ile Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Met233Thr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Met251Ile Single submitter Inborn genetic diseases ⚠
  • p.Met294Ile Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Met321Val Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Met421Thr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Phe191Leu Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Phe255Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe270Leu Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Pro132Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro132Ser Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Pro136Leu Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Pro405Ser Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ser128Cys Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ser128Gly Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ser137Thr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ser24Thr Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ser34Trp Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ser358Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser49Asn Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Ser64Asn Single submitter ⚠
  • p.Thr121Lys Single submitter Inborn genetic diseases ⚠
  • p.Thr122Ala Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Thr149Ser Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Thr232Ala Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Thr417Met Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Thr424Ala Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Thr424Ser Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Trp32Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Trp333Arg Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Trp333Cys Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Trp87Cys Single submitter combined oxidative phosphorylation defect type 14
  • p.Trp87Gly Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Tyr188Cys Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Tyr188His Single submitter combined oxidative phosphorylation defect type 14
  • p.Tyr360Phe Single submitter ⚠
  • p.Tyr376His Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Tyr382Cys Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Tyr58His Single submitter combined oxidative phosphorylation defect type 14
  • p.Val14Ile Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Val239Ala Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Val2Leu Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Val363Met Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Val385Ala Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Val385Leu Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Val403Ala Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Val430Ala Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Val51Leu Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • p.Val70Phe Single submitter combined oxidative phosphorylation defect type 14 ⚠
  • c.1218-32980_1218-32942del No assertion criteria schizophrenia
  • p.Gly141Glu No assertion criteria hereditary spastic paraplegia 77 ⚠
  • p.Val288Leu No assertion criteria hereditary spastic paraplegia 77 ⚠