Sugi Variant

Sugi Variant/AARS1

AARS1 — 1615 ClinVar variants

All ClinVar germline AARS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 801 flagged for review →

49 Pathogenic · 9 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 79 Conflicting · 42 Benign · 22 Benign/Likely benign · 570 Likely benign · 819 Uncertain significance

Full AARS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 801

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 20

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

Predictors lean, ClinVar uncertain 420

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 420

Predictors split 360

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 360

All AARS1 variants

Pathogenic 49

  • p.Arg330Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.962+1del Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala347fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala656fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg326Pro Single submitter Charcot-Marie-Tooth disease axonal type 2N
  • p.Arg333_Tyr334insTer Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg569Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg597Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg598Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg840Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln124Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln221Ter Single submitter Inborn genetic diseases
  • p.Gln381Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln523Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln541fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln567Ter Single submitter Inborn genetic diseases
  • p.Gln647fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln809Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu337Lys Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu444Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu560fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu661Ter Single submitter developmental and epileptic encephalopathy, 29
  • p.Glu721fs Single submitter Charcot-Marie-Tooth disease axonal type 2N
  • p.Glu99Gly Single submitter developmental and epileptic encephalopathy, 29
  • p.Gly241fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly275fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly408Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly426fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly626fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.His605fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu673fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu877fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys231Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys846_Gln847delinsAsnTer Single submitter Charcot-Marie-Tooth disease type 2
  • p.Phe345fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Phe534fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Phe636fs Single submitter developmental and epileptic encephalopathy, 29
  • p.Ser188Leu Single submitter developmental and epileptic encephalopathy, 29
  • p.Ser249fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ser711fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ser775fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Thr38fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Thr4fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Thr668fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Tyr497Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Tyr690Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Val218fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Cys901Tyr No assertion criteria trichothiodystrophy 8, nonphotosensitive
  • p.Tyr690fs No assertion criteria developmental and epileptic encephalopathy, 29

Pathogenic/Likely pathogenic 9

  • c.2177+1G>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg13Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg246Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg329His Multiple submitters Hereditary neuropathy or pain disorder
  • p.Arg333Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Trp104Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2N
  • p.Tyr109_Lys111delinsTer Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Tyr322Ter Multiple submitters Inborn genetic diseases
  • p.Cys152Phe No assertion criteria leukoencephalopathy, hereditary diffuse, with spheroids 2

Likely pathogenic 25

  • c.817-1G>A Multiple submitters Inborn genetic diseases
  • p.Arg329Cys Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gly102Arg Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1071+1G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1493-2A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1992+1G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1993-1G>A Single submitter trichothiodystrophy 8, nonphotosensitive
  • c.334-6_338del Single submitter Charcot-Marie-Tooth disease type 2
  • c.479+1G>T Single submitter Charcot-Marie-Tooth disease axonal type 2N
  • c.672-565_760delinsCATAGTTGTCAT Single submitter Charcot-Marie-Tooth disease type 2
  • c.962+1G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.963-2A>G Single submitter developmental and epileptic encephalopathy, 29
  • p.Ala746fs Single submitter
  • p.Cys525Tyr Single submitter developmental and epileptic encephalopathy, 29
  • p.Gln648Ter Single submitter developmental and epileptic encephalopathy, 29
  • p.Glu225Gln Single submitter trichothiodystrophy 8, nonphotosensitive ⚠
  • p.His605Gln Single submitter Charcot-Marie-Tooth disease axonal type 2N
  • p.Lys81Thr Single submitter Charcot-Marie-Tooth disease axonal type 2N
  • p.Thr608Lys Single submitter
  • p.Thr6fs Single submitter
  • p.Tyr93fs Single submitter Charcot-Marie-Tooth disease axonal type 2N
  • p.Arg633fs No assertion criteria developmental and epileptic encephalopathy, 29
  • p.Gly321Arg No assertion criteria leukoencephalopathy, hereditary diffuse, with spheroids 2
  • p.Phe110Leu No assertion criteria Charcot-Marie-Tooth disease axonal type 2N
  • p.Phe958Ser No assertion criteria developmental and epileptic encephalopathy, 29

Conflicting classifications of pathogenicity 79

  • c.1493-7T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1786-5T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.2401-11A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2521-3C>T Single submitter Inborn genetic diseases
  • c.2521-5T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.333+3A>C Single submitter Inborn genetic diseases
  • c.480-12C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.480-8T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.817-4A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.962+15C>T Single submitter Charcot-Marie-Tooth disease axonal type 2N
  • p.Ala144Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala200= Single submitter Inborn genetic diseases
  • p.Ala276= Single submitter Charcot-Marie-Tooth disease axonal type 2N
  • p.Ala302Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ala469Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala614= Single submitter Inborn genetic diseases
  • p.Ala835= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg20Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg277Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg326Trp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg391Cys Single submitter Charcot-Marie-Tooth disease axonal type 2N ⚠
  • p.Arg391Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg695Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg729Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg729Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg751Gly Single submitter AARS-related disorder ⚠
  • p.Asn21= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asn340Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Asn894Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Asn911Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp173Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp359= Single submitter Inborn genetic diseases
  • p.Asp836Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Gln206His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Glu524= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu759Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly160= Single submitter Inborn genetic diseases
  • p.Gly275Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly581Ser Single submitter developmental and epileptic encephalopathy, 29 ⚠
  • p.Gly865= Single submitter Inborn genetic diseases
  • p.Gly865Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Gly913Asp Single submitter developmental and epileptic encephalopathy, 29 ⚠
  • p.His27Arg Single submitter Inborn genetic diseases ⚠
  • p.His336Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ile32Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ile579Met Single submitter Inborn genetic diseases ⚠
  • p.Ile807= Single submitter Inborn genetic diseases
  • p.Leu167= Single submitter Charcot-Marie-Tooth disease axonal type 2N
  • p.Leu529= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu860= Single submitter Inborn genetic diseases
  • p.Lys235Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Met370Val Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Phe722Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro129Ala Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Ser494Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ser555Ile Single submitter Inborn genetic diseases ⚠
  • p.Ser731Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser731Trp Single submitter Charcot-Marie-Tooth disease axonal type 2N ⚠
  • p.Ser769Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ser924Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Thr260Ala Single submitter developmental and epileptic encephalopathy, 29 ⚠
  • p.Thr425= Single submitter Inborn genetic diseases
  • p.Thr502Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr505= Single submitter Inborn genetic diseases
  • p.Thr532= Single submitter Inborn genetic diseases
  • p.Thr608Met Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Thr741Met Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Thr891= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Tyr334Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Tyr418Cys Single submitter Inborn genetic diseases ⚠
  • p.Val307Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Val353= Single submitter Charcot-Marie-Tooth disease axonal type 2N
  • p.Val354Ile Single submitter Inborn genetic diseases ⚠
  • p.Val503= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Val516Leu Single submitter Inborn genetic diseases ⚠
  • p.Val666Ala Single submitter developmental and epileptic encephalopathy, 29 ⚠
  • p.Val685Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Val703= Single submitter Inborn genetic diseases
  • p.Asn71Tyr No assertion criteria Charcot-Marie-Tooth disease axonal type 2N ⚠

Benign 42

Benign/Likely benign 22

  • c.1672-4T>A Multiple submitters Inborn genetic diseases
  • c.1993-4G>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.2608-6C>A Multiple submitters Inborn genetic diseases
  • c.*251A>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2N
  • p.Arg476= Multiple submitters Inborn genetic diseases
  • p.Asp544= Multiple submitters Inborn genetic diseases
  • p.Asp552= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Cys187= Multiple submitters Inborn genetic diseases
  • p.Glu22Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2N
  • p.Glu444= Multiple submitters Inborn genetic diseases
  • p.Gly931Ser Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ile470= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ile579= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu247= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Lys820Arg Multiple submitters Inborn genetic diseases
  • p.Lys967Met Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
  • p.Pro234Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser864= Multiple submitters Charcot-Marie-Tooth disease axonal type 2N
  • p.Thr562Ile Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Thr900= Multiple submitters Charcot-Marie-Tooth disease axonal type 2N
  • p.Tyr468= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids 2
  • p.Val248= Multiple submitters Charcot-Marie-Tooth disease type 2

Likely benign 570

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

  • c.1223-90C>T Multiple submitters
  • c.1348-9T>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.145-17C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1493-168C>T Multiple submitters
  • c.1671+10C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1672-10C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1672-5C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1993-13_1993-11del Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.2178-14G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2N
  • c.2178-9G>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.2287-16C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.2401-11A>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.2521-10T>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.2607+13C>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.480-17C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.480-8T>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.480-9C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.671+12T>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.672-5T>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.817-7T>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.962+12G>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.962+16A>G Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.-21-11dup Multiple submitters Charcot-Marie-Tooth disease axonal type 2N
  • c.-22+127G>A Multiple submitters
  • p.Ala294= Multiple submitters Inborn genetic diseases
  • p.Ala448= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala665= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala676= Multiple submitters Inborn genetic diseases
  • p.Ala746= Multiple submitters Inborn genetic diseases
  • p.Ala758= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala910= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg13= Multiple submitters Inborn genetic diseases
  • p.Asn612= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asp199= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asp207= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asp289Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp466= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Cys947= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gln904= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu151= Multiple submitters Inborn genetic diseases
  • p.Glu430= Multiple submitters Inborn genetic diseases
  • p.Gly139= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gly319= Multiple submitters Inborn genetic diseases
  • p.His27= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ile739= Multiple submitters Inborn genetic diseases
  • p.Ile849= Multiple submitters Inborn genetic diseases
  • p.Leu251= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu298= Multiple submitters Inborn genetic diseases
  • p.Leu473= Multiple submitters Inborn genetic diseases
  • p.Leu634= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu682= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu822= Multiple submitters
  • p.Lys844= Multiple submitters Inborn genetic diseases
  • p.Lys90= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Phe175= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Phe613= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Pro278= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Pro407= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Pro702= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Pro710= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ser3= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Thr181= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Thr410= Multiple submitters Inborn genetic diseases
  • p.Thr502= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Thr521= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Thr718= Multiple submitters Inborn genetic diseases
  • p.Tyr322= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Tyr334= Multiple submitters Inborn genetic diseases
  • p.Val283= Multiple submitters Inborn genetic diseases
  • p.Val563= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Val568= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Val666Ile Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
  • p.Val755= Multiple submitters Inborn genetic diseases
  • p.Val776= Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1071+15C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1071+15C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1071+195_1071+197del Single submitter
  • c.1072-10C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1072-10C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1072-12C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1072-13T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1072-15C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1072-16G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1072-17T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1072-18T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1072-20T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1072-6T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1222+17G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1222+18C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1222+19C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1222+7_1222+8insTTGC Single submitter Charcot-Marie-Tooth disease type 2
  • c.1222+7A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1222+7A>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1223-12T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1223-15C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1223-18C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1223-256G>A Single submitter
  • c.1223-9G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1347+10T>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1347+10T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1347+13G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1347+16A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1347+19G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1347+7A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1347+9C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1348-10T>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1348-10T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1348-11C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1348-11C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1348-17G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1348-20C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1348-20C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.144+14C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.144+19T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.144+21C>A Single submitter
  • c.144+289dup Single submitter
  • c.144+7G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.144+8T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.145-123A>C Single submitter
  • c.145-15G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.145-17C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.145-18G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.145-295C>T Single submitter
  • c.145-4T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.145-7C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1492+10T>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1492+10TG[3] Single submitter Charcot-Marie-Tooth disease type 2
  • c.1492+13G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1492+14C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1492+15T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1492+19T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1492+215_1492+216dup Single submitter
  • c.1492+302C>A Single submitter
  • c.1492+7T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1492+8G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1493-10C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1493-15A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1493-172C>T Single submitter
  • c.1493-19A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1493-8T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1493-9C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1671+12G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1671+19C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1671+20T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1671+7C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1671+8_1671+15del Single submitter Charcot-Marie-Tooth disease type 2
  • c.1671+9A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1672-100T>C Single submitter
  • c.1672-15C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1672-24G>C Single submitter
  • c.1672-33T>G Single submitter
  • c.1672-7C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1672-7C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1785+10del Single submitter Charcot-Marie-Tooth disease type 2
  • c.1785+10G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1785+16G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1785+20C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1785+257G>A Single submitter
  • c.1785+293G>T Single submitter
  • c.1786-17C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1786-7T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1992+11C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1992+12G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1992+14C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1992+15G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1992+181del Single submitter
  • c.1992+189C>T Single submitter
  • c.1992+19G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1992+7T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1993-16C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1993-18G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1993-7C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1993-8T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1993-9G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.2177+11C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2177+130A>G Single submitter
  • c.2177+13del Single submitter Charcot-Marie-Tooth disease type 2
  • c.2177+20A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2177+9T>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2177+9T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2178-11C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2178-14G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2178-17del Single submitter Charcot-Marie-Tooth disease type 2
  • c.2178-17T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.2178-4dup Single submitter Charcot-Marie-Tooth disease type 2
  • c.2178-5T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.2178-7C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2286+174A>G Single submitter
  • c.2286+18G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2286+200_2286+201del Single submitter
  • c.2286+7A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2286+8G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2287-10C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2287-12G>A Single submitter
  • c.2287-12G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2287-15G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2287-7C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2400+15C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2400+18C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2400+20C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2400+7G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2400+8C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2400+8C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2400+8C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2400+9G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2401-11A>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2401-13C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2401-15G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2401-16C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2401-16C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2401-17T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.2401-18G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2401-19G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2520+12C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2520+18C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2520+19A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2520+7C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2521-11T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.2521-12T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.2521-16G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2521-19C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2521-41_2521-16del Single submitter Charcot-Marie-Tooth disease type 2
  • c.2607+12G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.2607+14C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2607+17G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2607+18G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2607+18G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2607+20C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2607+8A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2608-11C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2608-14G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2608-16C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2608-17C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2608-17C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2608-18G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2721+12C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2721+14C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2721+15G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2721+15G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.2721+15G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2721+17A>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2721+20A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2721+8C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2722-12C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2722-133_2722-132del Single submitter
  • c.2722-13T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2722-16C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2722-20C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2722-7C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2722-7C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2722-9del Single submitter Charcot-Marie-Tooth disease type 2
  • c.333+125G>A Single submitter
  • c.333+12G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.333+15G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.333+17A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.333+18_333+20del Single submitter Charcot-Marie-Tooth disease type 2
  • c.333+9A>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.334-10C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.334-13_334-9del Single submitter Charcot-Marie-Tooth disease type 2
  • c.334-14T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.334-15C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.334-17C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.334-19C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.334-19CT[2] Single submitter Charcot-Marie-Tooth disease type 2
  • c.479+10C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.479+10C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.479+12C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.479+195C>A Single submitter
  • c.479+196T>A Single submitter
  • c.480-18T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.480-307G>A Single submitter
  • c.480-68G>A Single submitter
  • c.480-70C>G Single submitter
  • c.671+10G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.671+15C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.671+18C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.671+269C>G Single submitter
  • c.671+4G>T Single submitter
  • c.671+78C>T Single submitter
  • c.672-15T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.672-16C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.672-19C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.672-19C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.672-21_672-19del Single submitter Charcot-Marie-Tooth disease type 2
  • c.672-5T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.672-9A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.816+10C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.816+13T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.816+15G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.816+203dup Single submitter
  • c.816+20C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.816+9G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.816+9G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.817-11C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.817-11C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.817-16del Single submitter Charcot-Marie-Tooth disease type 2
  • c.817-20C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.817-3dup Single submitter Charcot-Marie-Tooth disease type 2
  • c.817-4A>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.962+10C>G Single submitter Charcot-Marie-Tooth disease type 2

Uncertain significance 819

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