Sugi Variant

Sugi Variant/PRX

PRX — 1424 ClinVar variants

All ClinVar germline PRX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 795 flagged for review →

41 Pathogenic · 20 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 81 Conflicting · 17 Benign · 26 Benign/Likely benign · 388 Likely benign · 825 Uncertain significance

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

⚑ Evidence disagreements 795

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 38

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

Predictors lean, ClinVar uncertain 511

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 511

Predictors split 246

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 246

All PRX variants

Pathogenic 41

  • p.Ala210fs Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Arg364Ter Multiple submitters PRX-related disorder
  • p.Arg953Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Tyr77Ter Multiple submitters Inborn genetic diseases
  • c.27+1G>T Single submitter PRX-related disorder
  • p.Arg1020fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg215fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg69Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asp1053fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asp327fs Single submitter Charcot-Marie-Tooth disease type 4F
  • p.Gln203Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gln684Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gln868fs Single submitter
  • p.Glu1034fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu40_Gly41insGluAlaAlaArg Single submitter Charcot-Marie-Tooth disease
  • p.Glu553fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly334fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ile42fs Single submitter Charcot-Marie-Tooth disease
  • p.Ile727fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu1204fs Single submitter
  • p.Leu391fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu595delinsPheLeuArgTer Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu667fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu768fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu861fs Single submitter Charcot-Marie-Tooth disease type 4F
  • p.Leu998fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys118fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys39fs Single submitter Charcot-Marie-Tooth disease type 4F
  • p.Lys788Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro153fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro518fs Single submitter Charcot-Marie-Tooth disease type 3
  • p.Ser1124Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ser259fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ser751Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ser816Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ser939fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Val1092fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Val223fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala338fs No assertion criteria Charcot-Marie-Tooth disease type 3
  • p.Arg392fs No assertion criteria Charcot-Marie-Tooth disease
  • p.Glu1235Ter No assertion criteria Charcot-Marie-Tooth disease type 4F

Pathogenic/Likely pathogenic 20

  • p.Arg1070Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Arg196Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Arg368Ter Multiple submitters Inborn genetic diseases
  • p.Arg392Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Arg464Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Arg897Ter Multiple submitters Charcot-Marie-Tooth disease type 3
  • p.Asp765fs Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Cys715Ter Multiple submitters Inborn genetic diseases
  • p.Gln60fs Multiple submitters Charcot-Marie-Tooth disease
  • p.Gln622Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Glu197Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Gly952fs Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ile1096fs Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Lys1006fs Multiple submitters Charcot-Marie-Tooth disease type 4F
  • p.Lys1127Ter Multiple submitters Progressive peripheral neuropathy
  • p.Lys926Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Lys930fs Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Phe1066fs Multiple submitters Charcot-Marie-Tooth disease
  • p.Thr1033fs Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Val525fs Multiple submitters Charcot-Marie-Tooth disease type 4

Likely pathogenic 26

Conflicting classifications of pathogenicity 81

Benign 17

Benign/Likely benign 26

  • c.381+18G>A Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala244Val Multiple submitters Charcot-Marie-Tooth disease
  • p.Ala612= Multiple submitters Inborn genetic diseases
  • p.Ala823= Multiple submitters Inborn genetic diseases
  • p.Arg165Cys Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Arg185His Multiple submitters Charcot-Marie-Tooth disease
  • p.Arg542Gln Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Cys95= Multiple submitters Inborn genetic diseases
  • p.Glu1360_Glu1361del Multiple submitters Charcot-Marie-Tooth disease
  • p.Glu495Gln Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Gly1132Arg Multiple submitters Charcot-Marie-Tooth disease
  • p.Gly1234= Multiple submitters Charcot-Marie-Tooth disease type 4F
  • p.Gly1286Ser Multiple submitters Inborn genetic diseases
  • p.Gly1348= Multiple submitters Charcot-Marie-Tooth disease type 4F
  • p.Ile427= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ile921Met Multiple submitters Charcot-Marie-Tooth disease
  • p.Pro1083Arg Multiple submitters Charcot-Marie-Tooth disease
  • p.Pro180= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Pro497= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Pro513= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Pro655Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Pro681= Multiple submitters Inborn genetic diseases
  • p.Ser1284= Multiple submitters Inborn genetic diseases
  • p.Thr102= Multiple submitters Charcot-Marie-Tooth disease
  • p.Val701Met Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Val925= Multiple submitters Inborn genetic diseases

Likely benign 388

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

  • c.27+12C>T Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.-199+7G>A Multiple submitters
  • c.-20A>C Multiple submitters Charcot-Marie-Tooth disease
  • c.-236G>A Multiple submitters Charcot-Marie-Tooth disease type 4F
  • c.-99-20C>G Multiple submitters
  • c.*144C>T Multiple submitters Charcot-Marie-Tooth disease type 4F
  • p.Ala1012= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala1117= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala1141= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala1252= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala1268= Multiple submitters Inborn genetic diseases
  • p.Ala1320= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala1384= Multiple submitters Inborn genetic diseases
  • p.Ala209= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala257= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala648= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala700= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala873= Multiple submitters Inborn genetic diseases
  • p.Ala910= Multiple submitters Inborn genetic diseases
  • p.Arg194Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg542Trp Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg881= Multiple submitters Inborn genetic diseases
  • p.Asp651= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Asp765= Multiple submitters Charcot-Marie-Tooth disease
  • p.Gln1122= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Gln203= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Glu1108= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Glu1295= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Glu1322= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Glu371= Multiple submitters Charcot-Marie-Tooth disease
  • p.Glu638= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Glu883= Multiple submitters Charcot-Marie-Tooth disease
  • p.Gly1125= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Gly265Val Multiple submitters Charcot-Marie-Tooth disease
  • p.Gly334= Multiple submitters Inborn genetic diseases
  • p.Gly972= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Gly981= Multiple submitters Inborn genetic diseases
  • p.Ile1096= Multiple submitters Inborn genetic diseases
  • p.Leu312= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Leu360= Multiple submitters Inborn genetic diseases
  • p.Leu417= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Leu631= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Leu747= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Leu755= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Leu96= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Lys118= Multiple submitters Inborn genetic diseases
  • p.Lys1400= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Lys630= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Lys800= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Pro1277= Multiple submitters Inborn genetic diseases
  • p.Pro1402= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Pro1408= Multiple submitters Inborn genetic diseases
  • p.Pro1450= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Pro191= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Pro249= Multiple submitters Inborn genetic diseases
  • p.Pro258= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Pro278= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Pro280= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Pro331= Multiple submitters
  • p.Pro487= Multiple submitters Inborn genetic diseases
  • p.Pro565= Multiple submitters Charcot-Marie-Tooth disease
  • p.Pro575= Multiple submitters Inborn genetic diseases
  • p.Pro583= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Pro609= Multiple submitters Inborn genetic diseases
  • p.Pro619= Multiple submitters Charcot-Marie-Tooth disease
  • p.Pro645= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Pro660= Multiple submitters Inborn genetic diseases
  • p.Pro756= Multiple submitters Inborn genetic diseases
  • p.Pro764= Multiple submitters Inborn genetic diseases
  • p.Pro769= Multiple submitters Charcot-Marie-Tooth disease
  • p.Pro899= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ser1124= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ser1349= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ser526= Multiple submitters Charcot-Marie-Tooth disease
  • p.Ser552= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ser560= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ser7= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ser928= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ser939= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Thr1173= Multiple submitters Charcot-Marie-Tooth disease
  • p.Val1102= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Val112= Multiple submitters Charcot-Marie-Tooth disease
  • p.Val1256= Multiple submitters Charcot-Marie-Tooth disease
  • p.Val34= Multiple submitters Inborn genetic diseases
  • p.Val621= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Val662= Multiple submitters Charcot-Marie-Tooth disease
  • p.Val832= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Val847= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Val971= Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.184+10C>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.184+11C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.184+12C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.184+13G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.184+19T>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.184+7G>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.184+9G>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.185-11C>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.185-13A>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.185-167C>T Single submitter
  • c.185-4G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.185-4G>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.185-5C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.185-6C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.185-7C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.185-8G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.185-9C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.27+12C>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.27+13G>A Single submitter
  • c.27+15G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.27+19T>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.27+8C>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.381+15C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.381+16C>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.381+17C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.381+21C>T Single submitter
  • c.382-17C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.382-19C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.382-20C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.382-96C>T Single submitter
  • c.-19G>A Single submitter
  • c.-211A>C Single submitter
  • c.-243+159C>A Single submitter
  • c.-9A>C Single submitter
  • p.Ala1087= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1112= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1131= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1177= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1233= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala125= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1252Thr Single submitter Inborn genetic diseases
  • p.Ala1289= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1294= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1300= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1367= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1459= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala172= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala199= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala208= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala210= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala256= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala262= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala267= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala285= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala287= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala369= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala373= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala375= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala485= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala563= Single submitter
  • p.Ala674= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala8= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg1020= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg1270= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg1315Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg1370= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg1375= Single submitter Inborn genetic diseases
  • p.Arg1377= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg1391= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg1414= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg196= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg206= Single submitter
  • p.Arg359= Single submitter Charcot-Marie-Tooth disease
  • p.Arg385= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg4= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg679= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg953= Single submitter
  • p.Arg970= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asn128= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asn74= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asp1079= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asp1224= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asp1278= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asp336= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asp615= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asp739= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gln1107= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gln250= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gln60= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gln604= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu1034= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu1088= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu1098= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu1162= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu1297= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu1324= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu1358= Single submitter
  • p.Glu222= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu245= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu296= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu457= Single submitter
  • p.Glu467= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu540= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu602= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu646= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu698= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu726= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu734= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu947= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu976= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1030= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1084= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1105= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1132= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1149= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1161= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1179= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1196= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1202= Single submitter
  • p.Gly1239= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1242= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1251= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1267= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1366= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1382= Single submitter Charcot-Marie-Tooth disease
  • p.Gly1392= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1395= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly1455= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly274= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly36= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly843= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly863= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly879= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly884= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly940= Single submitter
  • p.His269= Single submitter Charcot-Marie-Tooth disease type 4
  • p.His617= Single submitter Charcot-Marie-Tooth disease type 4
  • p.His653Arg Single submitter Inborn genetic diseases
  • p.Ile290= Single submitter
  • p.Leu1038= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu1045= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu1068= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu1157= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu1192= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu1227= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu1243= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu1245= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu1250= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu1281= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu1313= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu1333= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu1378= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu1417= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu145= Single submitter
  • p.Leu193= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu236= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu273= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu337= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu355= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu415= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu425= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu470= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu491= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu523= Single submitter
  • p.Leu595= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu659= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu680= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu809= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu908= Single submitter Charcot-Marie-Tooth disease
  • p.Leu966= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu986= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu989= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu991= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys1006= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys1246= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys162= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys176= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys216= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys414= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys472= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys532= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys576= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys589= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys625= Single submitter
  • p.Lys728= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys749= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys762= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys785= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys808= Single submitter Charcot-Marie-Tooth disease
  • p.Lys926= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys956= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Phe158= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Phe163= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Phe75= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Phe931= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro1019= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro1040= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro1059= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro1083= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro1097= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro1147= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro1153= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro1195= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro120= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro1352= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro1438= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro148= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro213= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro214= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro239= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro254= Single submitter Charcot-Marie-Tooth disease type 4

Uncertain significance 825

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