PREPL — 783 ClinVar variants

All ClinVar germline PREPL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 337 flagged for review →

35 Pathogenic · 10 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 12 Conflicting · 47 Benign · 7 Benign/Likely benign · 290 Likely benign · 367 Uncertain significance

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

⚑ Evidence disagreements 337

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.

PREPL p.Lys609Asn Likely pathogenic Single submitter
myasthenic syndrome, congenital, 22

Predictors agree, ClinVar conflicts 8

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

PREPL c.-49+1678C>G Conflicting Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1883G>T Conflicting Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg533Leu Conflicting Single submitter
Inborn genetic diseases
PREPL p.Asn314Tyr Conflicting Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp379His Conflicting Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Ile323Val Conflicting Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Ile548Val Conflicting Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Val371Ile Conflicting Single submitter
myasthenic syndrome, congenital, 22

Predictors lean, ClinVar uncertain 279

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 279

PREPL c.-15C>A Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL c.-29A>G Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL c.-49+1676G>C Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL c.-49+1707A>G Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL c.-49+1719C>T Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL c.-49+1839T>C Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL c.-49+1840C>T Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL c.-49+1867G>A Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL c.-49+1881A>G Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Ala334Ser Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Ala3Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Ala432Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Ala471Pro Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Arg151Cys Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Arg154Cys Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Arg174Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Arg174Pro Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Arg293Trp Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Arg324Leu Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Arg353His Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Arg356Cys Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Arg356His Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Arg533Cys Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Arg8Gly Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Asn152Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Asn23Thr Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Asp102Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Asp140Val Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Asp198Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Asp249Glu Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Gln456His Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Gln587Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Glu220Ala Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Glu514Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Gly303Glu Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Gly422Ser Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Ile348Val Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Ile610Phe Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Leu415Ser Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Leu479Ser Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Leu617Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Leu617Val Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Lys150Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Lys313Asn Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Lys562Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Lys615Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Met369Val Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Met503Ile Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Met504Leu Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Pro111Leu Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Pro597Leu Uncertain significance Multiple submitters
PREPL p.Ser291Thr Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Ser93Thr Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Thr170Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Thr185Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Trp430Ser Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Tyr142Cys Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Val105Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Val141Ile Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Val474Met Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL c.-14C>G Uncertain significance Single submitter
Inborn genetic diseases
PREPL c.-23A>T Uncertain significance Single submitter
Inborn genetic diseases
PREPL c.-26A>T Uncertain significance Single submitter
Inborn genetic diseases
PREPL c.-27G>A Uncertain significance Single submitter
Inborn genetic diseases
PREPL c.-2A>G Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-36G>A Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-36G>C Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-41A>G Uncertain significance Single submitter
Inborn genetic diseases
PREPL c.-49+1674A>G Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1689C>T Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1690T>C Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1696C>A Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1708G>C Uncertain significance Single submitter
PREPL c.-49+1720T>A Uncertain significance Single submitter
Inborn genetic diseases
PREPL c.-49+1729G>C Uncertain significance Single submitter
Inborn genetic diseases
PREPL c.-49+1743C>T Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1744A>G Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1749A>T Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1761T>G Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1765C>T Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1780A>G Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1783G>A Uncertain significance Single submitter
Inborn genetic diseases
PREPL c.-49+1783G>C Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1784A>T Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1793G>T Uncertain significance Single submitter
Inborn genetic diseases
PREPL c.-49+1806C>A Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1810C>G Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1830C>T Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1836A>G Uncertain significance Single submitter
Inborn genetic diseases
PREPL c.-49+1839T>A Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1846T>C Uncertain significance Single submitter
Inborn genetic diseases
PREPL c.-49+1857A>G Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1860C>A Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Ala239Val Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Ala3Val Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Ala432Val Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Ala478Val Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Ala48Thr Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Ala576Thr Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Ala576Val Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Ala92Ser Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Arg134Ser Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg137Cys Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg137His Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg151His Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Arg174Cys Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Arg174Gly Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg174His Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg293Gln Uncertain significance Single submitter
PREPL p.Arg324Cys Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg405Lys Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg406Gln Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg406Trp Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg421Gln Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg435Cys Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Arg435His Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg533His Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asn135Lys Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asn135Thr Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asn23Asp Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asn283Ile Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Asn58Asp Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asn600His Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asn600Ser Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp102His Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp126Asn Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Asp192Asn Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp218Asn Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp219Glu Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp241Asn Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp249Gly Uncertain significance Single submitter
PREPL p.Asp307Val Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp311Gly Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp346Glu Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp363Tyr Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp379Glu Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp49Asn Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Asp556Tyr Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp605Glu Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp77His Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp89Gly Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Cys39Phe Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Cys71Ser Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Gln381Pro Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Gln613His Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Glu122Lys Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Glu215Gly Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Glu232Lys Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Glu341Gly Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Glu345Gln Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 49

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

PREPL p.Arg217Gly Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Arg42His Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Cys95Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Gly563Glu Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Gly583Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.His431Gln Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Ile323Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Ile595Phe Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Ile595Thr Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Leu571Val Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Phe110Ser Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Phe233Leu Uncertain significance Multiple submitters
myasthenic syndrome, congenital, 22
PREPL p.Phe273Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Ser115Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Tyr390Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL p.Val188Met Uncertain significance Multiple submitters
Inborn genetic diseases
PREPL c.-49+1686T>C Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL c.-49+1866C>T Likely benign Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg356Leu Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg42Cys Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg558Gly Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Arg73Gly Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asn182Lys Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asn520His Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp410His Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Asp556Asn Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Asp624His Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Cys138Tyr Uncertain significance Single submitter
PREPL p.Gly147Ala Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Gly434Ser Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Gly583Asp Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Ile191Arg Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Ile203Thr Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Ile98Thr Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Leu385Phe Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Leu571Ile Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Leu623His Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Lys84Asn Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Met369Thr Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Phe116Leu Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Phe266Leu Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Phe273Leu Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Pro509Ala Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Thr568Asn Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Thr94Ala Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Tyr586Cys Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Val127Ala Uncertain significance Single submitter
myasthenic syndrome, congenital, 22
PREPL p.Val188Ala Uncertain significance Single submitter
Inborn genetic diseases
PREPL p.Val214Leu Uncertain significance Single submitter
myasthenic syndrome, congenital, 22

All PREPL variants

Pathogenic 35

p.Glu577Ter Multiple submitters myasthenic syndrome, congenital, 22
p.Phe339fs Multiple submitters myasthenic syndrome, congenital, 22
c.76-1G>C Single submitter
c.-31_-28del Single submitter myasthenic syndrome, congenital, 22
c.-49+1740C>T Single submitter myasthenic syndrome, congenital, 22
c.-49+1778C>A Single submitter myasthenic syndrome, congenital, 22
c.-49+1802T>A Single submitter myasthenic syndrome, congenital, 22
c.-49+1826dup Single submitter myasthenic syndrome, congenital, 22
c.-49+1843_-49+1844del Single submitter myasthenic syndrome, congenital, 22
p.Ala48fs Single submitter myasthenic syndrome, congenital, 22
p.Arg143Ter Single submitter myasthenic syndrome, congenital, 22
p.Arg421Ter Single submitter myasthenic syndrome, congenital, 22
p.Asp124fs Single submitter myasthenic syndrome, congenital, 22
p.Asp51fs Single submitter
p.Gln460Ter Single submitter myasthenic syndrome, congenital, 22
p.Gln66Ter Single submitter myasthenic syndrome, congenital, 22
p.Glu25fs Single submitter myasthenic syndrome, congenital, 22
p.Glu378fs Single submitter myasthenic syndrome, congenital, 22
p.Glu447Ter Single submitter myasthenic syndrome, congenital, 22
p.Gly472Ter Single submitter myasthenic syndrome, congenital, 22
p.Leu366Ter Single submitter myasthenic syndrome, congenital, 22
p.Leu492Ter Single submitter myasthenic syndrome, congenital, 22
p.Leu508fs Single submitter myasthenic syndrome, congenital, 22
p.Lys150fs Single submitter myasthenic syndrome, congenital, 22
p.Pro509fs Single submitter
p.Ser291Ter Single submitter
p.Tyr212fs Single submitter myasthenic syndrome, congenital, 22
p.Tyr331Ter Single submitter myasthenic syndrome, congenital, 22
p.Tyr417fs Single submitter myasthenic syndrome, congenital, 22
p.Tyr530Ter Single submitter myasthenic syndrome, congenital, 22
p.Val26fs Single submitter myasthenic syndrome, congenital, 22
p.Ile180_Met181insTer No assertion criteria myasthenic syndrome, congenital, 22
p.Leu446Ter No assertion criteria myasthenic syndrome, congenital, 22
p.Lys205fs No assertion criteria premature menopause
p.Val32fs No assertion criteria myasthenic syndrome, congenital, 22

Pathogenic/Likely pathogenic 10

c.1262+1G>A Multiple submitters myasthenic syndrome, congenital, 22
c.1263-1G>C Multiple submitters myasthenic syndrome, congenital, 22
c.-42del Multiple submitters myasthenic syndrome, congenital, 22
c.-49+1734C>T Multiple submitters myasthenic syndrome, congenital, 22
p.Arg206Ter Multiple submitters myasthenic syndrome, congenital, 22
p.Gln14Ter Multiple submitters PREPL-related disorder
p.Gln456Ter Multiple submitters myasthenic syndrome, congenital, 22
p.Leu56fs Multiple submitters myasthenic syndrome, congenital, 22
p.Phe31fs Multiple submitters myasthenic syndrome, congenital, 22
p.Tyr328fs Multiple submitters myasthenic syndrome, congenital, 22

Likely pathogenic 15

c.1086+2T>C Single submitter myasthenic syndrome, congenital, 22
c.1263-2A>C Single submitter myasthenic syndrome, congenital, 22
c.1412_1479+41del Single submitter myasthenic syndrome, congenital, 22
c.1630-1G>A Single submitter
c.350-1G>T Single submitter myasthenic syndrome, congenital, 22
c.486-2A>C Single submitter
c.703-2A>G Single submitter myasthenic syndrome, congenital, 22
c.-48-2A>G Single submitter myasthenic syndrome, congenital, 22
c.-48-2A>T Single submitter myasthenic syndrome, congenital, 22
p.Ala244fs Single submitter myasthenic syndrome, congenital, 22
p.Glu378Ter Single submitter myasthenic syndrome, congenital, 22
p.Lys609Asn Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Met181fs Single submitter PREPL-related disorder
p.Trp518Ter Single submitter myasthenic syndrome, congenital, 22
p.Tyr53Ter Single submitter PREPL-related disorder

Conflicting classifications of pathogenicity 12

c.1753+1G>T Single submitter myasthenic syndrome, congenital, 22
c.1753+2T>C Single submitter myasthenic syndrome, congenital, 22
c.1827+5G>A Single submitter myasthenic syndrome, congenital, 22
c.888+1G>A Single submitter myasthenic syndrome, congenital, 22
c.-49+1678C>G Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1883G>T Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg533Leu Single submitter Inborn genetic diseases ⚠
p.Asn314Tyr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp379His Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile323Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile548Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Val371Ile Single submitter myasthenic syndrome, congenital, 22 ⚠

Benign 47

c.1087-47A>G Multiple submitters myasthenic syndrome, congenital, 22
c.143-19C>T Multiple submitters myasthenic syndrome, congenital, 22
c.1480-121T>G Multiple submitters
c.1630-15T>C Multiple submitters myasthenic syndrome, congenital, 22
c.1753+135T>C Multiple submitters
c.1828-29A>G Multiple submitters myasthenic syndrome, congenital, 22
c.349+108G>A Multiple submitters
c.349+80G>T Multiple submitters
c.350-12_350-10del Multiple submitters myasthenic syndrome, congenital, 22
c.485+82C>T Multiple submitters
c.76-124C>T Multiple submitters
c.888+43T>A Multiple submitters
c.-48-129A>G Multiple submitters
c.-48-142C>A Multiple submitters
c.-48-95C>G Multiple submitters
c.-48-95C>T Multiple submitters
c.-49+1746T>G Multiple submitters myasthenic syndrome, congenital, 22
c.-49+1898A>G Multiple submitters myasthenic syndrome, congenital, 22
p.Ala552= Multiple submitters myasthenic syndrome, congenital, 22
p.Ala75= Multiple submitters myasthenic syndrome, congenital, 22
p.Asn501Ser Multiple submitters myasthenic syndrome, congenital, 22
c.143-11del Single submitter myasthenic syndrome, congenital, 22
c.143-128_143-126del Single submitter
c.143-185G>A Single submitter
c.1479+117C>T Single submitter
c.1480-3del Single submitter myasthenic syndrome, congenital, 22
c.1629+111T>C Single submitter
c.1629+168G>A Single submitter
c.1753+13dup Single submitter myasthenic syndrome, congenital, 22
c.1754-165T>C Single submitter
c.1754-190C>T Single submitter
c.1828-17dup Single submitter myasthenic syndrome, congenital, 22
c.349+13C>T Single submitter myasthenic syndrome, congenital, 22
c.350-173A>G Single submitter
c.350-49del Single submitter
c.350-63dup Single submitter
c.485+228A>T Single submitter
c.486-191C>G Single submitter
c.75+134_75+139del Single submitter
c.75+17C>G Single submitter myasthenic syndrome, congenital, 22
c.888+167A>G Single submitter
c.888+197C>T Single submitter
c.889-160G>A Single submitter
c.-49+1735A>G Single submitter myasthenic syndrome, congenital, 22
c.-49+1813A>T Single submitter myasthenic syndrome, congenital, 22
p.Asp45= Single submitter myasthenic syndrome, congenital, 22
p.Ser101Arg Single submitter myasthenic syndrome, congenital, 22

Benign/Likely benign 7

c.1086+15C>T Multiple submitters myasthenic syndrome, congenital, 22
c.1479+8C>T Multiple submitters myasthenic syndrome, congenital, 22
c.486-18CT[7] Multiple submitters myasthenic syndrome, congenital, 22
p.Asn50Ser Multiple submitters myasthenic syndrome, congenital, 22
p.Glu229= Multiple submitters myasthenic syndrome, congenital, 22
p.Glu619Lys Multiple submitters myasthenic syndrome, congenital, 22
p.Tyr618= Multiple submitters myasthenic syndrome, congenital, 22

Likely benign 290

c.1827+15C>T Multiple submitters myasthenic syndrome, congenital, 22
c.-49+1740C>A Multiple submitters Inborn genetic diseases
c.-49+1791T>C Multiple submitters myasthenic syndrome, congenital, 22
p.Asn23Ser Multiple submitters myasthenic syndrome, congenital, 22
p.Asn278Ser Multiple submitters myasthenic syndrome, congenital, 22
p.Asp148= Multiple submitters myasthenic syndrome, congenital, 22
p.Asp172= Multiple submitters myasthenic syndrome, congenital, 22
p.Glu485= Multiple submitters myasthenic syndrome, congenital, 22
p.His388= Multiple submitters myasthenic syndrome, congenital, 22
p.Leu250= Multiple submitters myasthenic syndrome, congenital, 22
p.Leu385= Multiple submitters myasthenic syndrome, congenital, 22
p.Lys532Arg Multiple submitters myasthenic syndrome, congenital, 22
p.Pro536= Multiple submitters myasthenic syndrome, congenital, 22
p.Thr507Lys Multiple submitters myasthenic syndrome, congenital, 22
p.Val559= Multiple submitters myasthenic syndrome, congenital, 22
c.1086+11T>A Single submitter myasthenic syndrome, congenital, 22
c.1086+11T>C Single submitter myasthenic syndrome, congenital, 22
c.1086+16T>A Single submitter
c.1086+18C>A Single submitter myasthenic syndrome, congenital, 22
c.1086+19A>G Single submitter myasthenic syndrome, congenital, 22
c.1086+8T>G Single submitter myasthenic syndrome, congenital, 22
c.1087-20T>C Single submitter myasthenic syndrome, congenital, 22
c.1087-22_1087-19del Single submitter myasthenic syndrome, congenital, 22
c.1087-4C>G Single submitter myasthenic syndrome, congenital, 22
c.1087-9C>G Single submitter myasthenic syndrome, congenital, 22
c.1262+11A>G Single submitter myasthenic syndrome, congenital, 22
c.1262+18A>G Single submitter myasthenic syndrome, congenital, 22
c.1262+19C>T Single submitter myasthenic syndrome, congenital, 22
c.1262+20C>G Single submitter myasthenic syndrome, congenital, 22
c.1263-12C>T Single submitter myasthenic syndrome, congenital, 22
c.1263-18T>C Single submitter myasthenic syndrome, congenital, 22
c.142+11A>G Single submitter myasthenic syndrome, congenital, 22
c.142+12T>G Single submitter myasthenic syndrome, congenital, 22
c.142+17C>G Single submitter myasthenic syndrome, congenital, 22
c.142+18T>C Single submitter myasthenic syndrome, congenital, 22
c.142+7C>G Single submitter myasthenic syndrome, congenital, 22
c.143-16A>C Single submitter myasthenic syndrome, congenital, 22
c.143-18G>A Single submitter myasthenic syndrome, congenital, 22
c.143-19C>A Single submitter myasthenic syndrome, congenital, 22
c.143-6A>G Single submitter myasthenic syndrome, congenital, 22
c.1479+20A>G Single submitter myasthenic syndrome, congenital, 22
c.1479+9G>A Single submitter myasthenic syndrome, congenital, 22
c.1480-14T>C Single submitter myasthenic syndrome, congenital, 22
c.1480-15T>C Single submitter myasthenic syndrome, congenital, 22
c.1480-6T>C Single submitter myasthenic syndrome, congenital, 22
c.1480-6T>G Single submitter myasthenic syndrome, congenital, 22
c.1480-7T>C Single submitter myasthenic syndrome, congenital, 22
c.1629+11A>T Single submitter myasthenic syndrome, congenital, 22
c.1629+12C>T Single submitter myasthenic syndrome, congenital, 22
c.1629+13A>G Single submitter myasthenic syndrome, congenital, 22
c.1629+14A>G Single submitter myasthenic syndrome, congenital, 22
c.1629+19dup Single submitter myasthenic syndrome, congenital, 22
c.1629+9A>C Single submitter myasthenic syndrome, congenital, 22
c.1629+9A>G Single submitter myasthenic syndrome, congenital, 22
c.1630-16A>G Single submitter myasthenic syndrome, congenital, 22
c.1630-5T>C Single submitter myasthenic syndrome, congenital, 22
c.1753+10C>G Single submitter myasthenic syndrome, congenital, 22
c.1753+13C>G Single submitter myasthenic syndrome, congenital, 22
c.1753+17A>C Single submitter myasthenic syndrome, congenital, 22
c.1753+7G>C Single submitter myasthenic syndrome, congenital, 22
c.1753+8A>T Single submitter myasthenic syndrome, congenital, 22
c.1754-20C>T Single submitter myasthenic syndrome, congenital, 22
c.1754-7C>T Single submitter myasthenic syndrome, congenital, 22
c.1827+10C>G Single submitter myasthenic syndrome, congenital, 22
c.1827+11A>T Single submitter myasthenic syndrome, congenital, 22
c.1827+16C>T Single submitter myasthenic syndrome, congenital, 22
c.1827+20T>C Single submitter myasthenic syndrome, congenital, 22
c.1827+26G>T Single submitter
c.1827+8A>T Single submitter myasthenic syndrome, congenital, 22
c.1827+9T>C Single submitter myasthenic syndrome, congenital, 22
c.1828-13G>A Single submitter myasthenic syndrome, congenital, 22
c.1828-13G>T Single submitter myasthenic syndrome, congenital, 22
c.1828-14T>C Single submitter myasthenic syndrome, congenital, 22
c.1828-17T>A Single submitter myasthenic syndrome, congenital, 22
c.1828-7C>A Single submitter myasthenic syndrome, congenital, 22
c.1828-7C>T Single submitter myasthenic syndrome, congenital, 22
c.349+12del Single submitter myasthenic syndrome, congenital, 22
c.349+16A>G Single submitter myasthenic syndrome, congenital, 22
c.349+18A>G Single submitter myasthenic syndrome, congenital, 22
c.349+6C>A Single submitter
c.350-10_350-8del Single submitter myasthenic syndrome, congenital, 22
c.350-12A>G Single submitter myasthenic syndrome, congenital, 22
c.350-13T>G Single submitter myasthenic syndrome, congenital, 22
c.350-16C>G Single submitter myasthenic syndrome, congenital, 22
c.350-19T>C Single submitter myasthenic syndrome, congenital, 22
c.350-21_350-19del Single submitter myasthenic syndrome, congenital, 22
c.350-6T>C Single submitter myasthenic syndrome, congenital, 22
c.485+10T>A Single submitter myasthenic syndrome, congenital, 22
c.485+13T>C Single submitter myasthenic syndrome, congenital, 22
c.485+14A>G Single submitter myasthenic syndrome, congenital, 22
c.485+8A>G Single submitter myasthenic syndrome, congenital, 22
c.485+9A>G Single submitter myasthenic syndrome, congenital, 22
c.486-10C>T Single submitter myasthenic syndrome, congenital, 22
c.486-14C>G Single submitter
c.486-18CT[6] Single submitter myasthenic syndrome, congenital, 22
c.486-18CT[9] Single submitter myasthenic syndrome, congenital, 22
c.486-19T>A Single submitter myasthenic syndrome, congenital, 22
c.486-4C>G Single submitter myasthenic syndrome, congenital, 22
c.486-8C>G Single submitter
c.702+10G>A Single submitter myasthenic syndrome, congenital, 22
c.702+16C>T Single submitter myasthenic syndrome, congenital, 22
c.702+17G>A Single submitter myasthenic syndrome, congenital, 22
c.702+17G>T Single submitter myasthenic syndrome, congenital, 22
c.702+19T>A Single submitter myasthenic syndrome, congenital, 22
c.702+20G>T Single submitter myasthenic syndrome, congenital, 22
c.702+7C>T Single submitter myasthenic syndrome, congenital, 22
c.703-20T>G Single submitter myasthenic syndrome, congenital, 22
c.703-4G>A Single submitter myasthenic syndrome, congenital, 22
c.703-4G>T Single submitter myasthenic syndrome, congenital, 22
c.703-5C>T Single submitter myasthenic syndrome, congenital, 22
c.703-6A>G Single submitter myasthenic syndrome, congenital, 22
c.703-7C>G Single submitter myasthenic syndrome, congenital, 22
c.703-8C>G Single submitter
c.75+10C>T Single submitter myasthenic syndrome, congenital, 22
c.75+15G>T Single submitter myasthenic syndrome, congenital, 22
c.75+20del Single submitter myasthenic syndrome, congenital, 22
c.75+9T>C Single submitter myasthenic syndrome, congenital, 22
c.76-10C>T Single submitter myasthenic syndrome, congenital, 22
c.76-14G>A Single submitter myasthenic syndrome, congenital, 22
c.76-17C>T Single submitter myasthenic syndrome, congenital, 22
c.888+10A>T Single submitter myasthenic syndrome, congenital, 22
c.888+12T>G Single submitter myasthenic syndrome, congenital, 22
c.888+13T>C Single submitter myasthenic syndrome, congenital, 22
c.888+8T>C Single submitter myasthenic syndrome, congenital, 22
c.889-17_889-15del Single submitter myasthenic syndrome, congenital, 22
c.889-17C>G Single submitter myasthenic syndrome, congenital, 22
c.889-20T>C Single submitter myasthenic syndrome, congenital, 22
c.-21G>A Single submitter Inborn genetic diseases
c.-22C>T Single submitter myasthenic syndrome, congenital, 22
c.-28A>G Single submitter myasthenic syndrome, congenital, 22
c.-48-10C>T Single submitter myasthenic syndrome, congenital, 22
c.-48-4C>G Single submitter myasthenic syndrome, congenital, 22
c.-48-7T>C Single submitter myasthenic syndrome, congenital, 22
c.-48-9T>C Single submitter myasthenic syndrome, congenital, 22
c.-49+1673G>A Single submitter myasthenic syndrome, congenital, 22
c.-49+1691C>T Single submitter myasthenic syndrome, congenital, 22
c.-49+1724A>C Single submitter myasthenic syndrome, congenital, 22
c.-49+1756A>G Single submitter Inborn genetic diseases
c.-49+1760C>T Single submitter myasthenic syndrome, congenital, 22
c.-49+1763C>T Single submitter myasthenic syndrome, congenital, 22
c.-49+1784A>G Single submitter myasthenic syndrome, congenital, 22
c.-49+1793G>A Single submitter myasthenic syndrome, congenital, 22
c.-49+1806C>T Single submitter myasthenic syndrome, congenital, 22
c.-49+1808A>T Single submitter myasthenic syndrome, congenital, 22
c.-49+1814G>A Single submitter myasthenic syndrome, congenital, 22
c.-49+1820T>C Single submitter myasthenic syndrome, congenital, 22
c.-49+1850A>G Single submitter myasthenic syndrome, congenital, 22
c.-49+1862A>C Single submitter myasthenic syndrome, congenital, 22
c.-49+1866C>T Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1891C>A Single submitter myasthenic syndrome, congenital, 22
c.-49+1893_-49+1896del Single submitter myasthenic syndrome, congenital, 22
p.Ala144= Single submitter myasthenic syndrome, congenital, 22
p.Ala239= Single submitter myasthenic syndrome, congenital, 22
p.Ala3= Single submitter
p.Ala359= Single submitter myasthenic syndrome, congenital, 22
p.Ala432= Single submitter myasthenic syndrome, congenital, 22
p.Ala471= Single submitter myasthenic syndrome, congenital, 22
p.Ala476= Single submitter myasthenic syndrome, congenital, 22
p.Ala478= Single submitter myasthenic syndrome, congenital, 22
p.Ala489= Single submitter myasthenic syndrome, congenital, 22
p.Ala576= Single submitter myasthenic syndrome, congenital, 22
p.Ala83= Single submitter myasthenic syndrome, congenital, 22
p.Ala92= Single submitter myasthenic syndrome, congenital, 22
p.Arg151= Single submitter myasthenic syndrome, congenital, 22
p.Arg237= Single submitter myasthenic syndrome, congenital, 22
p.Arg353= Single submitter myasthenic syndrome, congenital, 22
p.Arg42= Single submitter myasthenic syndrome, congenital, 22
p.Arg435= Single submitter myasthenic syndrome, congenital, 22
p.Arg558= Single submitter myasthenic syndrome, congenital, 22
p.Asn112= Single submitter myasthenic syndrome, congenital, 22
p.Asn182= Single submitter myasthenic syndrome, congenital, 22
p.Asn501= Single submitter myasthenic syndrome, congenital, 22
p.Asn555= Single submitter myasthenic syndrome, congenital, 22
p.Asp121= Single submitter myasthenic syndrome, congenital, 22
p.Asp140= Single submitter myasthenic syndrome, congenital, 22
p.Asp192= Single submitter
p.Asp198= Single submitter myasthenic syndrome, congenital, 22
p.Asp241= Single submitter myasthenic syndrome, congenital, 22
p.Asp264= Single submitter myasthenic syndrome, congenital, 22
p.Asp289= Single submitter myasthenic syndrome, congenital, 22
p.Asp410= Single submitter myasthenic syndrome, congenital, 22
p.Asp411= Single submitter myasthenic syndrome, congenital, 22
p.Asp505= Single submitter myasthenic syndrome, congenital, 22
p.Asp556= Single submitter myasthenic syndrome, congenital, 22
p.Asp581= Single submitter myasthenic syndrome, congenital, 22
p.Asp624= Single submitter myasthenic syndrome, congenital, 22
p.Cys39= Single submitter myasthenic syndrome, congenital, 22
p.Gln35= Single submitter myasthenic syndrome, congenital, 22
p.Gln596= Single submitter myasthenic syndrome, congenital, 22
p.Gln613= Single submitter myasthenic syndrome, congenital, 22
p.Gln66= Single submitter myasthenic syndrome, congenital, 22
p.Glu125= Single submitter myasthenic syndrome, congenital, 22
p.Glu378= Single submitter myasthenic syndrome, congenital, 22
p.Glu46= Single submitter
p.Glu78= Single submitter myasthenic syndrome, congenital, 22
p.Gly193= Single submitter myasthenic syndrome, congenital, 22
p.Gly343= Single submitter myasthenic syndrome, congenital, 22
p.Gly422= Single submitter myasthenic syndrome, congenital, 22
p.Gly434= Single submitter myasthenic syndrome, congenital, 22
p.Gly457= Single submitter myasthenic syndrome, congenital, 22
p.Gly473= Single submitter myasthenic syndrome, congenital, 22
p.Gly519= Single submitter myasthenic syndrome, congenital, 22
p.His139= Single submitter myasthenic syndrome, congenital, 22
p.His276= Single submitter myasthenic syndrome, congenital, 22
p.His431= Single submitter myasthenic syndrome, congenital, 22
p.His527= Single submitter myasthenic syndrome, congenital, 22
p.His549= Single submitter myasthenic syndrome, congenital, 22
p.His578= Single submitter myasthenic syndrome, congenital, 22
p.His601= Single submitter myasthenic syndrome, congenital, 22
p.Ile180= Single submitter myasthenic syndrome, congenital, 22
p.Ile575= Single submitter myasthenic syndrome, congenital, 22
p.Ile72= Single submitter myasthenic syndrome, congenital, 22
p.Leu100= Single submitter myasthenic syndrome, congenital, 22
p.Leu194= Single submitter myasthenic syndrome, congenital, 22
p.Leu224= Single submitter myasthenic syndrome, congenital, 22
p.Leu235= Single submitter myasthenic syndrome, congenital, 22
p.Leu272= Single submitter myasthenic syndrome, congenital, 22
p.Leu295= Single submitter myasthenic syndrome, congenital, 22
p.Leu338= Single submitter myasthenic syndrome, congenital, 22
p.Leu357= Single submitter myasthenic syndrome, congenital, 22
p.Leu380= Single submitter myasthenic syndrome, congenital, 22
p.Leu408= Single submitter myasthenic syndrome, congenital, 22
p.Leu500= Single submitter myasthenic syndrome, congenital, 22
p.Leu571= Single submitter myasthenic syndrome, congenital, 22
p.Leu59= Single submitter myasthenic syndrome, congenital, 22
p.Leu617= Single submitter myasthenic syndrome, congenital, 22
p.Leu621= Single submitter myasthenic syndrome, congenital, 22
p.Leu636= Single submitter myasthenic syndrome, congenital, 22
p.Lys10= Single submitter myasthenic syndrome, congenital, 22
p.Lys120= Single submitter myasthenic syndrome, congenital, 22
p.Lys183= Single submitter myasthenic syndrome, congenital, 22
p.Lys255= Single submitter myasthenic syndrome, congenital, 22
p.Lys275= Single submitter myasthenic syndrome, congenital, 22
p.Lys327= Single submitter myasthenic syndrome, congenital, 22
p.Lys374= Single submitter myasthenic syndrome, congenital, 22
p.Lys383= Single submitter myasthenic syndrome, congenital, 22
p.Lys541= Single submitter myasthenic syndrome, congenital, 22
p.Met306Thr Single submitter myasthenic syndrome, congenital, 22
p.Phe132= Single submitter myasthenic syndrome, congenital, 22
p.Phe155= Single submitter myasthenic syndrome, congenital, 22
p.Phe166= Single submitter myasthenic syndrome, congenital, 22
p.Phe175= Single submitter myasthenic syndrome, congenital, 22
p.Phe304= Single submitter myasthenic syndrome, congenital, 22
p.Phe339= Single submitter myasthenic syndrome, congenital, 22
p.Phe616= Single submitter myasthenic syndrome, congenital, 22
p.Phe629= Single submitter myasthenic syndrome, congenital, 22
p.Pro104= Single submitter myasthenic syndrome, congenital, 22
p.Pro111= Single submitter myasthenic syndrome, congenital, 22
p.Pro368= Single submitter myasthenic syndrome, congenital, 22
p.Pro509= Single submitter myasthenic syndrome, congenital, 22
p.Pro589= Single submitter myasthenic syndrome, congenital, 22
p.Pro597= Single submitter myasthenic syndrome, congenital, 22
p.Ser114= Single submitter myasthenic syndrome, congenital, 22
p.Ser523= Single submitter myasthenic syndrome, congenital, 22
p.Ser90= Single submitter myasthenic syndrome, congenital, 22
p.Thr13= Single submitter myasthenic syndrome, congenital, 22
p.Thr131= Single submitter myasthenic syndrome, congenital, 22
p.Thr145= Single submitter myasthenic syndrome, congenital, 22
p.Thr184= Single submitter myasthenic syndrome, congenital, 22
p.Thr253= Single submitter myasthenic syndrome, congenital, 22
p.Thr258= Single submitter myasthenic syndrome, congenital, 22
p.Thr452= Single submitter myasthenic syndrome, congenital, 22
p.Thr465= Single submitter myasthenic syndrome, congenital, 22
p.Thr551= Single submitter myasthenic syndrome, congenital, 22
p.Thr588Ala Single submitter Inborn genetic diseases
p.Thr9= Single submitter myasthenic syndrome, congenital, 22
p.Thr94= Single submitter myasthenic syndrome, congenital, 22
p.Tyr130= Single submitter myasthenic syndrome, congenital, 22
p.Tyr213= Single submitter myasthenic syndrome, congenital, 22
p.Tyr328= Single submitter myasthenic syndrome, congenital, 22
p.Tyr329= Single submitter
p.Tyr331= Single submitter myasthenic syndrome, congenital, 22
p.Tyr34= Single submitter myasthenic syndrome, congenital, 22
p.Tyr53= Single submitter myasthenic syndrome, congenital, 22
p.Tyr567= Single submitter myasthenic syndrome, congenital, 22
p.Tyr80= Single submitter myasthenic syndrome, congenital, 22
p.Val188= Single submitter myasthenic syndrome, congenital, 22
p.Val210= Single submitter myasthenic syndrome, congenital, 22
p.Val260= Single submitter myasthenic syndrome, congenital, 22
p.Val284= Single submitter myasthenic syndrome, congenital, 22
p.Val371= Single submitter myasthenic syndrome, congenital, 22
p.Val387Ile Single submitter Inborn genetic diseases
p.Val407= Single submitter myasthenic syndrome, congenital, 22
p.Val409= Single submitter myasthenic syndrome, congenital, 22
p.Val602= Single submitter myasthenic syndrome, congenital, 22
p.Val7= Single submitter
c.1480-5T>C No assertion criteria PREPL-related disorder
c.1827+4T>C No assertion criteria PREPL-related disorder
c.-49+1660A>G No assertion criteria PREPL-related disorder
p.Arg293= No assertion criteria PREPL-related disorder

Uncertain significance 367

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

c.1629+30C>T Multiple submitters myasthenic syndrome, congenital, 22
c.-15C>A Multiple submitters myasthenic syndrome, congenital, 22 ⚠
c.-29A>G Multiple submitters Inborn genetic diseases ⚠
c.-49+1676G>C Multiple submitters myasthenic syndrome, congenital, 22 ⚠
c.-49+1707A>G Multiple submitters myasthenic syndrome, congenital, 22 ⚠
c.-49+1719C>T Multiple submitters myasthenic syndrome, congenital, 22 ⚠
c.-49+1839T>C Multiple submitters myasthenic syndrome, congenital, 22 ⚠
c.-49+1840C>T Multiple submitters Inborn genetic diseases ⚠
c.-49+1867G>A Multiple submitters myasthenic syndrome, congenital, 22 ⚠
c.-49+1881A>G Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Ala334Ser Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Ala3Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala432Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala471Pro Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Arg151Cys Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Arg154Cys Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Arg174Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg174Pro Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Arg217Gly Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Arg293Trp Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Arg324Leu Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Arg353His Multiple submitters Inborn genetic diseases ⚠
p.Arg356Cys Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Arg356His Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Arg42His Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Arg533Cys Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Arg558Gln Multiple submitters myasthenic syndrome, congenital, 22
p.Arg8Gly Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Asn152Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn23Thr Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Asp102Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp140Val Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Asp198Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp249Glu Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Cys95Gly Multiple submitters Inborn genetic diseases ⚠
p.Gln456His Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Gln587Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu220Ala Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Glu514Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly303Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly422Ser Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Gly563Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly583Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly599Asp Multiple submitters Inborn genetic diseases
p.His431Gln Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Ile323Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile348Val Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Ile595Phe Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Ile595Thr Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Ile610Phe Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Ile69Thr Multiple submitters myasthenic syndrome, congenital, 22
p.Leu202Phe Multiple submitters Inborn genetic diseases
p.Leu415Ser Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Leu479Ser Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Leu571Val Multiple submitters Inborn genetic diseases ⚠
p.Leu617Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu617Val Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Lys150Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys313Asn Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Lys562Ile Multiple submitters Inborn genetic diseases ⚠
p.Lys615Arg Multiple submitters Inborn genetic diseases ⚠
p.Met369Val Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Met503Ile Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Met504Leu Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Phe110Ser Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Phe233Leu Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Phe273Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro111Leu Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Pro597Leu Multiple submitters ⚠
p.Ser115Ile Multiple submitters Inborn genetic diseases ⚠
p.Ser291Thr Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Ser93Thr Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Thr170Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr185Ala Multiple submitters Inborn genetic diseases ⚠
p.Trp430Ser Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Tyr142Cys Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Tyr390Cys Multiple submitters Inborn genetic diseases ⚠
p.Val105Ile Multiple submitters Inborn genetic diseases ⚠
p.Val141Ile Multiple submitters myasthenic syndrome, congenital, 22 ⚠
p.Val188Met Multiple submitters Inborn genetic diseases ⚠
p.Val474Met Multiple submitters Inborn genetic diseases ⚠
c.1086+4G>A Single submitter myasthenic syndrome, congenital, 22
c.1263-7A>G Single submitter myasthenic syndrome, congenital, 22
c.142+5dup Single submitter myasthenic syndrome, congenital, 22
c.143-3C>A Single submitter myasthenic syndrome, congenital, 22
c.143-3C>T Single submitter myasthenic syndrome, congenital, 22
c.1629+5T>G Single submitter myasthenic syndrome, congenital, 22
c.1630-3del Single submitter myasthenic syndrome, congenital, 22
c.1630-4_1630-3delinsAT Single submitter myasthenic syndrome, congenital, 22
c.1753+5G>A Single submitter myasthenic syndrome, congenital, 22
c.1754-28T>C Single submitter myasthenic syndrome, congenital, 22
c.1827+1_1827+3del Single submitter myasthenic syndrome, congenital, 22
c.1827+3A>G Single submitter myasthenic syndrome, congenital, 22
c.1828-3_1828-2insCACAAATGTCCTATCTATGGGTGAGACCCAGGAGGGGAGGGAGGGACACTGTGTCAATCAAG Single submitter myasthenic syndrome, congenital, 22
c.349+5G>A Single submitter Inborn genetic diseases
c.485+4del Single submitter myasthenic syndrome, congenital, 22
c.703-15C>G Single submitter myasthenic syndrome, congenital, 22
c.75+5G>C Single submitter myasthenic syndrome, congenital, 22
c.888+4del Single submitter myasthenic syndrome, congenital, 22
c.889-11T>A Single submitter myasthenic syndrome, congenital, 22
c.-14C>G Single submitter Inborn genetic diseases ⚠
c.-23A>T Single submitter Inborn genetic diseases ⚠
c.-26A>T Single submitter Inborn genetic diseases ⚠
c.-27_-26delinsAT Single submitter
c.-27G>A Single submitter Inborn genetic diseases ⚠
c.-2A>G Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-36G>A Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-36G>C Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-41A>G Single submitter Inborn genetic diseases ⚠
c.-49+1665A>C Single submitter myasthenic syndrome, congenital, 22
c.-49+1665A>G Single submitter myasthenic syndrome, congenital, 22
c.-49+1674A>G Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1686T>C Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1689C>T Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1690T>C Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1696C>A Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1708G>C Single submitter ⚠
c.-49+1720T>A Single submitter Inborn genetic diseases ⚠
c.-49+1729G>C Single submitter Inborn genetic diseases ⚠
c.-49+1743C>T Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1744A>G Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1749A>T Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1761T>G Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1765C>T Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1780A>G Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1783G>A Single submitter Inborn genetic diseases ⚠
c.-49+1783G>C Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1784A>T Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1793G>T Single submitter Inborn genetic diseases ⚠
c.-49+1806C>A Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1810C>G Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1830C>T Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1836A>G Single submitter Inborn genetic diseases ⚠
c.-49+1839T>A Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1846T>C Single submitter Inborn genetic diseases ⚠
c.-49+1857A>G Single submitter myasthenic syndrome, congenital, 22 ⚠
c.-49+1860C>A Single submitter Inborn genetic diseases ⚠
c.-49+1888G>A Single submitter myasthenic syndrome, congenital, 22
p.Ala239Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ala392Gly Single submitter myasthenic syndrome, congenital, 22
p.Ala3Val Single submitter Inborn genetic diseases ⚠
p.Ala432Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ala478Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ala48Thr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ala576Thr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ala576Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ala92Ser Single submitter Inborn genetic diseases ⚠
p.Arg134Ser Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg137Cys Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg137His Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg151His Single submitter Inborn genetic diseases ⚠
p.Arg174Cys Single submitter Inborn genetic diseases ⚠
p.Arg174Gly Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg174His Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg293Gln Single submitter ⚠
p.Arg324Cys Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg356Leu Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg405Lys Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg406Gln Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg406Trp Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg421Gln Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg42Cys Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg435Cys Single submitter Inborn genetic diseases ⚠
p.Arg435His Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg533His Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg558Gly Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Arg73Gly Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asn135Lys Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asn135Thr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asn182Lys Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asn23Asp Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asn283Ile Single submitter Inborn genetic diseases ⚠
p.Asn520His Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asn58Asp Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asn600His Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asn600Ser Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp102His Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp126Asn Single submitter Inborn genetic diseases ⚠
p.Asp192Asn Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp218Asn Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp219Glu Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp241Asn Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp249Gly Single submitter ⚠
p.Asp307Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp311Gly Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp346Glu Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp363Tyr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp379Glu Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp410His Single submitter Inborn genetic diseases ⚠
p.Asp49Asn Single submitter Inborn genetic diseases ⚠
p.Asp505Gly Single submitter myasthenic syndrome, congenital, 22
p.Asp505His Single submitter Inborn genetic diseases
p.Asp556Asn Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp556Tyr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp605Glu Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp624His Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp77His Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Asp89Gly Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Cys138Tyr Single submitter ⚠
p.Cys39Phe Single submitter Inborn genetic diseases ⚠
p.Cys71Ser Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Gln381Pro Single submitter Inborn genetic diseases ⚠
p.Gln613His Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Glu122Lys Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Glu215Gly Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Glu232Lys Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Glu341Gly Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Glu345Gln Single submitter Inborn genetic diseases ⚠
p.Glu345Lys Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Glu47del Single submitter myasthenic syndrome, congenital, 22
p.Glu516Lys Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Glu60Gly Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Glu88Lys Single submitter Inborn genetic diseases ⚠
p.Gly147Ala Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Gly286Arg Single submitter Inborn genetic diseases ⚠
p.Gly343Ala Single submitter Inborn genetic diseases ⚠
p.Gly412Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Gly427Arg Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Gly434Ser Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Gly457Ser Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Gly583Asp Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Gly598Arg Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Gly599= Single submitter myasthenic syndrome, congenital, 22
p.Gly599Arg Single submitter Inborn genetic diseases
p.His139Pro Single submitter myasthenic syndrome, congenital, 22 ⚠
p.His208Arg Single submitter myasthenic syndrome, congenital, 22 ⚠
p.His276Tyr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.His344Leu Single submitter Inborn genetic diseases ⚠
p.His419Arg Single submitter myasthenic syndrome, congenital, 22 ⚠
p.His454Tyr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.His527Tyr Single submitter Inborn genetic diseases ⚠
p.His544Leu Single submitter myasthenic syndrome, congenital, 22 ⚠
p.His578Arg Single submitter Inborn genetic diseases ⚠
p.His607Tyr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile180Ser Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile180Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile191Arg Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile203Thr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile207Met Single submitter Inborn genetic diseases ⚠
p.Ile305Met Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile348Phe Single submitter Inborn genetic diseases ⚠
p.Ile414Leu Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile414Met Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile531Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile540Thr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile550Val Single submitter Inborn genetic diseases ⚠
p.Ile564Thr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile575Met Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile592del Single submitter myasthenic syndrome, congenital, 22
p.Ile603Thr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile98Thr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Ile98Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Leu100Pro Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Leu11Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Leu136Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Leu169Phe Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Leu169Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Leu272Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Leu297Val Single submitter ⚠
p.Leu319Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Leu338Pro Single submitter myasthenic syndrome, congenital, 22
p.Leu357Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Leu385Phe Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Leu443Phe Single submitter Inborn genetic diseases ⚠
p.Leu466Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Leu475Pro Single submitter Inborn genetic diseases
p.Leu571Ile Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Leu593Val Single submitter Inborn genetic diseases ⚠
p.Leu617Arg Single submitter Inborn genetic diseases ⚠
p.Leu623His Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Lys259Glu Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Lys362Arg Single submitter Inborn genetic diseases ⚠
p.Lys362Glu Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Lys438Glu Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Lys532Glu Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Lys634Asn Single submitter ⚠
p.Lys84Asn Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Met106Ile Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Met106Val Single submitter Inborn genetic diseases ⚠
p.Met1Ile Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Met246Thr Single submitter Inborn genetic diseases ⚠
p.Met254Val Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Met369Thr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Met395Ile Single submitter Inborn genetic diseases ⚠
p.Met395Thr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Met504Ile Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Phe116Leu Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Phe166Ser Single submitter Inborn genetic diseases ⚠
p.Phe266Leu Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Phe273Leu Single submitter Inborn genetic diseases ⚠
p.Phe469Cys Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Phe616Leu Single submitter ⚠
p.Pro111Gln Single submitter Inborn genetic diseases ⚠
p.Pro199Ala Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Pro243Ser Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Pro243Thr Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Pro298Leu Single submitter Inborn genetic diseases
p.Pro312Ser Single submitter myasthenic syndrome, congenital, 22 ⚠
p.Pro326Arg Single submitter myasthenic syndrome, congenital, 22
p.Pro384Ala Single submitter myasthenic syndrome, congenital, 22 ⚠