Sugi Variant

Sugi Variant/SLC5A7

SLC5A7 — 563 ClinVar variants

All ClinVar germline SLC5A7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 282 flagged for review →

6 Pathogenic · 13 Likely pathogenic · 18 Conflicting · 21 Benign · 6 Benign/Likely benign · 193 Likely benign · 306 Uncertain significance

Full SLC5A7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 282

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 2

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

Predictors agree, ClinVar conflicts 12

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 227

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 227

Predictors split 39

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

All SLC5A7 variants

Pathogenic 6

  • p.Gly45fs Single submitter congenital myasthenic syndrome 20
  • p.Phe279fs Single submitter congenital myasthenic syndrome 20
  • p.Ser34fs Single submitter congenital myasthenic syndrome 20
  • p.Trp240Ter Single submitter congenital myasthenic syndrome 20
  • p.Tyr122fs Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Asp48Gly No assertion criteria congenital myasthenic syndrome 20

Likely pathogenic 13

  • c.895+1G>C Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • c.1113+2T>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.179-2A>G Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.292+1G>A Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.742-2A>G Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ala41_Ile42insTer Single submitter congenital myasthenic syndrome 20
  • p.Arg361Gln Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Asp411Asn Single submitter
  • p.Ile294Thr Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Phe502fs Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.178+2T>C No assertion criteria congenital myasthenic syndrome 20
  • p.Gly450Glu No assertion criteria congenital myasthenic syndrome 20
  • p.Tyr403His No assertion criteria congenital myasthenic syndrome 20 ⚠

Conflicting classifications of pathogenicity 18

Benign 21

Benign/Likely benign 6

  • p.Asp158= Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Ile415= Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Leu276= Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Lys480= Multiple submitters congenital myasthenic syndrome 20
  • p.Tyr238Cys Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Val159= Multiple submitters Inborn genetic diseases

Likely benign 193

  • c.178+51G>A Multiple submitters
  • c.179-107G>A Multiple submitters
  • c.449-151A>G Multiple submitters
  • c.598-211A>G Multiple submitters
  • c.742-7C>T Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Ala288= Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Ala342= Multiple submitters congenital myasthenic syndrome 20
  • p.Ala390= Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Gly64= Multiple submitters congenital myasthenic syndrome 20
  • p.His162= Multiple submitters congenital myasthenic syndrome 20
  • p.Ile166= Multiple submitters Inborn genetic diseases
  • p.Leu130= Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Leu207= Multiple submitters congenital myasthenic syndrome 20
  • p.Leu249= Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Leu422= Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Pro321= Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Ser168= Multiple submitters Inborn genetic diseases
  • p.Ser34= Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Ser373= Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Thr399= Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Thr401= Multiple submitters congenital myasthenic syndrome 20
  • p.Tyr433= Multiple submitters congenital myasthenic syndrome 20
  • p.Val212= Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • c.1113+13del Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.1113+14C>A Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.1113+14del Single submitter congenital myasthenic syndrome 20
  • c.1113+195G>T Single submitter
  • c.1113+9A>G Single submitter congenital myasthenic syndrome 20
  • c.1114-13C>A Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.1114-14G>A Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.1114-16_1114-15del Single submitter congenital myasthenic syndrome 20
  • c.178+13G>A Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.178+16G>A Single submitter congenital myasthenic syndrome 20
  • c.178+16G>C Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.178+17C>A Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.178+18C>T Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.178+273T>C Single submitter
  • c.179-164A>G Single submitter
  • c.179-19A>C Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.179-20C>T Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.292+11G>A Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.292+11G>C Single submitter congenital myasthenic syndrome 20
  • c.292+137A>G Single submitter
  • c.293-121T>A Single submitter
  • c.293-17A>T Single submitter congenital myasthenic syndrome 20
  • c.293-18C>G Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.448+109A>G Single submitter
  • c.448+12C>T Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.448+16G>A Single submitter congenital myasthenic syndrome 20
  • c.448+17T>C Single submitter congenital myasthenic syndrome 20
  • c.448+7A>G Single submitter congenital myasthenic syndrome 20
  • c.448+9C>A Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.448+9C>T Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.449-11G>A Single submitter congenital myasthenic syndrome 20
  • c.449-13_449-12del Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.449-13T>C Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.449-14C>G Single submitter
  • c.449-14C>T Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.449-19A>G Single submitter congenital myasthenic syndrome 20
  • c.449-24A>G Single submitter
  • c.449-296T>G Single submitter
  • c.449-9_449-8del Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.597+14C>A Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.597+14C>T Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.597+7G>A Single submitter congenital myasthenic syndrome 20
  • c.598-18T>G Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.598-207_598-206del Single submitter
  • c.598-207del Single submitter
  • c.598-225C>A Single submitter
  • c.598-3C>T Single submitter congenital myasthenic syndrome 20
  • c.598-7G>A Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.598-7G>C Single submitter congenital myasthenic syndrome 20
  • c.741+11C>G Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.741+11C>T Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.741+12T>C Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.741+8A>C Single submitter congenital myasthenic syndrome 20
  • c.742-10T>C Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.742-15G>A Single submitter congenital myasthenic syndrome 20
  • c.742-17T>C Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.742-19C>A Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.742-20T>A Single submitter
  • c.742-6G>A Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.742-6G>T Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.895+12G>A Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.895+17T>C Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.895+17T>G Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.895+19C>T Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.895+20A>G Single submitter congenital myasthenic syndrome 20
  • c.895+310G>A Single submitter
  • c.896-13T>C Single submitter congenital myasthenic syndrome 20
  • c.896-17T>C Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.896-18G>T Single submitter congenital myasthenic syndrome 20
  • c.896-5A>G Single submitter congenital myasthenic syndrome 20
  • p.Ala134= Single submitter
  • p.Ala143= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ala185= Single submitter congenital myasthenic syndrome 20
  • p.Ala256= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ala270= Single submitter congenital myasthenic syndrome 20
  • p.Ala296= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ala304= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ala394= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ala435= Single submitter congenital myasthenic syndrome 20
  • p.Ala483= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ala543= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ala60= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Arg107= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Arg28= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Asn301= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Asn362= Single submitter congenital myasthenic syndrome 20
  • p.Asn534= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Asn536= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Asn559= Single submitter congenital myasthenic syndrome 20
  • p.Asn69= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Asp577= Single submitter congenital myasthenic syndrome 20
  • p.Cys423= Single submitter congenital myasthenic syndrome 20
  • p.Gln255= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Glu523= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Gly127= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Gly180= Single submitter congenital myasthenic syndrome 20
  • p.Gly198= Single submitter congenital myasthenic syndrome 20
  • p.Gly216= Single submitter congenital myasthenic syndrome 20
  • p.Gly280= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Gly434= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Gly442= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Gly46= Single submitter congenital myasthenic syndrome 20
  • p.Gly50= Single submitter congenital myasthenic syndrome 20
  • p.Gly572= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Gly66= Single submitter congenital myasthenic syndrome 20
  • p.Gly7= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Gly98= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Gly99= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ile12= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ile157= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ile18= Single submitter congenital myasthenic syndrome 20
  • p.Ile201= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ile215= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ile252= Single submitter congenital myasthenic syndrome 20
  • p.Ile417= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ile530= Single submitter
  • p.Ile68= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Leu100= Single submitter congenital myasthenic syndrome 20
  • p.Leu149= Single submitter congenital myasthenic syndrome 20
  • p.Leu177= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Leu181= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Leu262= Single submitter congenital myasthenic syndrome 20
  • p.Leu327= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Leu454= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Leu489= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Leu501= Single submitter congenital myasthenic syndrome 20
  • p.Leu511= Single submitter congenital myasthenic syndrome 20
  • p.Leu52= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Leu539= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Leu553= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Leu95= Single submitter congenital myasthenic syndrome 20
  • p.Lys499= Single submitter congenital myasthenic syndrome 20
  • p.Phe118= Single submitter congenital myasthenic syndrome 20
  • p.Phe131= Single submitter congenital myasthenic syndrome 20
  • p.Phe279= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Pro117= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Pro210= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Pro227= Single submitter
  • p.Pro253= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Pro419= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Pro463= Single submitter congenital myasthenic syndrome 20
  • p.Pro478= Single submitter congenital myasthenic syndrome 20
  • p.Ser108= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ser147= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ser154= Single submitter congenital myasthenic syndrome 20
  • p.Ser243= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ser264= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ser265= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ser341= Single submitter congenital myasthenic syndrome 20
  • p.Ser495= Single submitter congenital myasthenic syndrome 20
  • p.Thr176= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Thr313= Single submitter congenital myasthenic syndrome 20
  • p.Thr430= Single submitter congenital myasthenic syndrome 20
  • p.Thr575= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Tyr111= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Tyr238= Single submitter congenital myasthenic syndrome 20
  • p.Tyr326= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Tyr414= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Tyr465= Single submitter congenital myasthenic syndrome 20
  • p.Val13= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Val178= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Val189= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Val190= Single submitter congenital myasthenic syndrome 20
  • p.Val197= Single submitter congenital myasthenic syndrome 20
  • p.Val220= Single submitter
  • p.Val237= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Val387= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Val427Ile Single submitter Inborn genetic diseases
  • p.Val532= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Val77= Single submitter neuronopathy, distal hereditary motor, type 7A

Uncertain significance 306

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

  • c.178+4C>G Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • c.178+6T>C Multiple submitters Inborn genetic diseases
  • c.293-10T>C Multiple submitters congenital myasthenic syndrome 20
  • c.895+4A>G Multiple submitters Inborn genetic diseases
  • p.Ala134Val Multiple submitters congenital myasthenic syndrome 20 ⚠
  • p.Ala143Thr Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ala222Val Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ala35Thr Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ala394Gly Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ala562Asp Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Arg125Cys Multiple submitters Inborn genetic diseases
  • p.Arg361Trp Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Arg382Gln Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Arg548Ter Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Asp158Asn Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Asp374Glu Multiple submitters congenital myasthenic syndrome 20 ⚠
  • p.Glu40Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Glu40Lys Multiple submitters congenital myasthenic syndrome 20 ⚠
  • p.Gly429Arg Multiple submitters neuronopathy, distal hereditary motor, type 7A
  • p.Gly64Arg Multiple submitters congenital myasthenic syndrome 20 ⚠
  • p.Gly79Val Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Gly98Ser Multiple submitters Inborn genetic diseases ⚠
  • p.His209Asn Multiple submitters Inborn genetic diseases ⚠
  • p.His209Tyr Multiple submitters congenital myasthenic syndrome 20 ⚠
  • p.Ile11Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile291Thr Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ile472Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile89Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Leu246Ser Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Leu482Phe Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Leu544Phe Multiple submitters congenital myasthenic syndrome 20 ⚠
  • p.Leu93Phe Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Lys476Arg Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Met248Leu Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Met381Ile Multiple submitters SLC5A7-related disorder ⚠
  • p.Phe193Val Multiple submitters Inborn genetic diseases ⚠
  • p.Phe418Leu Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Phe479Cys Multiple submitters congenital myasthenic syndrome 20 ⚠
  • p.Pro105Arg Multiple submitters congenital myasthenic syndrome 20
  • p.Pro227Ala Multiple submitters congenital myasthenic syndrome 20 ⚠
  • p.Pro570Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser239Phe Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ser243Arg Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ser373Leu Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ser495Cys Multiple submitters congenital myasthenic syndrome 20 ⚠
  • p.Thr399Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr558fs Multiple submitters congenital myasthenic syndrome 20
  • p.Tyr433Cys Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Tyr496Cys Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Val272Ala Multiple submitters congenital myasthenic syndrome 20 ⚠
  • p.Val378Ile Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Val485Ile Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Val77Ile Multiple submitters neuronopathy, distal hereditary motor, type 7A ⚠
  • c.1113+6A>G Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.1114-10T>C Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.178+1G>C Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.292+5G>C Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.448+6G>A Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.449-3C>T Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.597+16C>G Single submitter congenital myasthenic syndrome 20
  • c.598-12T>C Single submitter neuronopathy, distal hereditary motor, type 7A
  • c.742-3C>T Single submitter congenital myasthenic syndrome 20
  • p.Ala143Glu Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ala144Glu Single submitter ⚠
  • p.Ala151Thr Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ala219Val Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ala25Val Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ala267Val Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ala288Pro Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ala293Thr Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ala293Val Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ala296Thr Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ala343Thr Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ala372Asp Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ala396Val Single submitter Inborn genetic diseases ⚠
  • p.Ala41Thr Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ala483fs Single submitter
  • p.Ala498Gly Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ala519Gly Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ala543Glu Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ala543Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala562Gly Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ala87Val Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Arg107Cys Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Arg260Met Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Arg382Ter Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Arg38Cys Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Arg38His Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Arg38Leu Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Arg520Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn371= Single submitter congenital myasthenic syndrome 20
  • p.Asn431Lys Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Asn470Ser Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Asn534fs Single submitter
  • p.Asn534Ser Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Asn536Ser Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Asn559Ser Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Asp158His Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Asp233Gly Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Asp299Glu Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Asp317Tyr Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Asp349Gly Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Asp468Tyr Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Asp469Asn Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Asp48Asn Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Asp515His Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Asp527Glu Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Asp567Tyr Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Gln191Arg Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Gln191Glu Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Gln302Lys Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Gln365Arg Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Gln370Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln475His Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Gln475Lys Single submitter ⚠
  • p.Gln549Lys Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Glu37Gly Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Glu541Val Single submitter Inborn genetic diseases ⚠
  • p.Glu576Lys Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Glu576Ter Single submitter
  • p.Glu576Val Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Gly128Arg Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Gly128Glu Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Gly198Glu Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Gly216Arg Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Gly338Cys Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Gly429Glu Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Gly434Arg Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Gly438Ala Single submitter ⚠
  • p.Gly46Val Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Gly471Asp Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Gly50Cys Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Gly574= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Gly574Val Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Gly65Glu Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Gly79Asp Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Gly79Ser Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Gly7Arg Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Gly7Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly98Asp Single submitter Inborn genetic diseases ⚠
  • p.His209Leu Single submitter congenital myasthenic syndrome 20 ⚠
  • p.His221Arg Single submitter congenital myasthenic syndrome 20 ⚠
  • p.His221Gln Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.His4Asp Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.His4Gln Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ile12Thr Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ile12Val Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ile153Val Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ile156Phe Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ile156Val Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ile167Phe Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ile195Val Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ile201Met Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ile201Val Single submitter Inborn genetic diseases ⚠
  • p.Ile294Val Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ile322Val Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ile352Val Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ile383Met Single submitter Inborn genetic diseases ⚠
  • p.Ile417Val Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ile43Val Single submitter Inborn genetic diseases ⚠
  • p.Ile472Arg Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ile472Met Single submitter Inborn genetic diseases ⚠
  • p.Ile494_Ser495insCysIle Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ile494Met Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ile49Phe Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ile49Thr Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ile537Thr Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ile9Thr Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ile9Val Single submitter ⚠
  • p.Leu100Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu149Phe Single submitter ⚠
  • p.Leu16Ile Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Leu16Val Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Leu177Met Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Leu245Met Single submitter Inborn genetic diseases ⚠
  • p.Leu247Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu276Pro Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Leu290Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu307Phe Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Leu366Ile Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Leu421Pro Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Leu425Pro Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Leu459Ser Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Leu51Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu564Val Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Leu93Arg Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Leu93Ile Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Lys311Gln Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Lys510Ile Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Lys510Ter Single submitter congenital myasthenic syndrome 20
  • p.Lys528Ter Single submitter congenital myasthenic syndrome 20
  • p.Lys538Arg Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Lys546Arg Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Met126Ile Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Met126Leu Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Met126Thr Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Met126Val Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Met136Val Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Met139Ile Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Met318Val Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Met345Leu Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Met358Ile Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Met358Leu Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Met395Thr Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Met526Thr Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Met526Val Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Phe118Leu Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Phe140Cys Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Phe14Leu Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Phe196Ser Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Phe217Ile Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Phe244Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe258Leu Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Phe3Ser Single submitter congenital myasthenic syndrome 20
  • p.Phe488Leu Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Phe557Ser Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Pro105Ser Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Pro227Ser Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Pro321Ala Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Pro452Ser Single submitter ⚠
  • p.Pro458Leu Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Pro463Ser Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Pro467Thr Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Pro509Arg Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Pro509His Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Pro570fs Single submitter congenital myasthenic syndrome 20
  • p.Ser154Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser168Ala Single submitter Inborn genetic diseases ⚠
  • p.Ser168Pro Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ser235Ala Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ser235Cys Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ser239Ala Single submitter Inborn genetic diseases ⚠
  • p.Ser243Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser263Cys Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ser266Leu Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ser32Asn Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ser347Ter Single submitter
  • p.Ser34Arg Single submitter ⚠
  • p.Ser39Arg Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Ser441Ala Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ser441Phe Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ser504Gly Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ser522Arg Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ser550Asn Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ser555Leu Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Ser568Cys Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ser573Phe Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Ser92Phe Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Thr173Asn Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Thr173Ile Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Thr173Ser Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Thr187Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr218Ala Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Thr384Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr401Ser Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Thr490Ile Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Thr506Ile Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Thr552Asn Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Thr558Ser Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Thr59= Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Thr59Ser Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Trp200Arg Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Trp228Arg Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Trp24Arg Single submitter ⚠
  • p.Trp379Cys Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Tyr224His Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Tyr269Cys Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Tyr305Cys Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Tyr364fs Single submitter
  • p.Tyr407Cys Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Tyr414Asn Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Tyr414Ser Single submitter Inborn genetic diseases ⚠
  • p.Tyr439Phe Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Tyr453His Single submitter congenital myasthenic syndrome 20
  • p.Tyr473Cys Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Tyr500His Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Tyr500Ter Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Tyr80His Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Val13Met Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Val155Leu Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Val155Met Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Val178Met Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Val190Ile Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Val190Leu Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Val203Ile Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Val203Leu Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Val232Ile Single submitter ⚠
  • p.Val330Met Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Val378Phe Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Val380Ile Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Val385Leu Single submitter congenital myasthenic syndrome 20
  • p.Val385Met Single submitter neuronopathy, distal hereditary motor, type 7A
  • p.Val402Met Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Val436Leu Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Val440Ala Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Val485Phe Single submitter congenital myasthenic syndrome 20 ⚠
  • p.Val517Ala Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Val518Ala Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Val518Leu Single submitter neuronopathy, distal hereditary motor, type 7A ⚠
  • p.Val53Ile Single submitter ⚠