Sugi Variant

Sugi Variant/CHAT

CHAT — 1018 ClinVar variants

All ClinVar germline CHAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 339 flagged for review →

32 Pathogenic · 24 Pathogenic/Likely pathogenic · 48 Likely pathogenic · 42 Conflicting · 80 Benign · 14 Benign/Likely benign · 461 Likely benign · 317 Uncertain significance

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

⚑ Evidence disagreements 339

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 3

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

Predictors agree, ClinVar conflicts 10

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

Predictors lean, ClinVar uncertain 168

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 168

Predictors split 158

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 158

All CHAT variants

Pathogenic 32

  • p.Arg470Ter Multiple submitters congenital myasthenic syndrome 6
  • p.Gln223fs Multiple submitters congenital myasthenic syndrome 6
  • p.Pro211Ala Multiple submitters congenital myasthenic syndrome 6 ⚠
  • p.Ser694Cys Multiple submitters Gastroesophageal reflux ⚠
  • p.Ala479fs Single submitter congenital myasthenic syndrome 6
  • p.Ala631Thr Single submitter congenital myasthenic syndrome 6 ⚠
  • p.Ala633fs Single submitter congenital myasthenic syndrome 6
  • p.Arg207fs Single submitter congenital myasthenic syndrome 6
  • p.Arg29Ter Single submitter
  • p.Arg482fs Single submitter congenital myasthenic syndrome 6
  • p.Arg548Ter Single submitter congenital myasthenic syndrome 6
  • p.Asn294fs Single submitter congenital myasthenic syndrome 6
  • p.Asp371fs Single submitter congenital myasthenic syndrome 6
  • p.Cys149Ter Single submitter congenital myasthenic syndrome 6
  • p.Cys440Ter Single submitter congenital myasthenic syndrome 6
  • p.Cys635Ter Single submitter congenital myasthenic syndrome 6
  • p.Gln168Ter Single submitter congenital myasthenic syndrome 6
  • p.Glu637Ter Single submitter congenital myasthenic syndrome 6
  • p.Leu175fs Single submitter congenital myasthenic syndrome 6
  • p.Leu249fs Single submitter congenital myasthenic syndrome 6
  • p.Leu541fs Single submitter congenital myasthenic syndrome 6
  • p.Phe159Ter Single submitter congenital myasthenic syndrome 6
  • p.Pro480fs Single submitter congenital myasthenic syndrome 6
  • p.Ser355fs Single submitter congenital myasthenic syndrome 6
  • p.Trp193Ter Single submitter congenital myasthenic syndrome 6
  • p.Trp421Ser Single submitter congenital myasthenic syndrome 6
  • p.Trp421Ter Single submitter congenital myasthenic syndrome 6
  • p.Trp485Ter Single submitter congenital myasthenic syndrome 6
  • p.Tyr514fs Single submitter congenital myasthenic syndrome 6
  • p.Tyr514Ter Single submitter congenital myasthenic syndrome 6
  • p.Val318fs Single submitter congenital myasthenic syndrome 6
  • p.Ile305Thr No assertion criteria congenital myasthenic syndrome 6

Pathogenic/Likely pathogenic 24

  • c.1840-9A>G Multiple submitters congenital myasthenic syndrome
  • p.Ala557Thr Multiple submitters congenital myasthenic syndrome
  • p.Ala593fs Multiple submitters congenital myasthenic syndrome 6
  • p.Arg151Ter Multiple submitters congenital myasthenic syndrome
  • p.Arg207His Multiple submitters congenital myasthenic syndrome ⚠
  • p.Arg481fs Multiple submitters congenital myasthenic syndrome 6
  • p.Arg504Ter Multiple submitters congenital myasthenic syndrome 6
  • p.Arg560His Multiple submitters congenital myasthenic syndrome
  • p.Arg561Ter Multiple submitters congenital myasthenic syndrome 6
  • p.Asp328fs Multiple submitters congenital myasthenic syndrome 6
  • p.Cys453_Glu455delinsTer Multiple submitters congenital myasthenic syndrome 6
  • p.Gln158Ter Multiple submitters congenital myasthenic syndrome 6
  • p.Gln463Ter Multiple submitters congenital myasthenic syndrome 6
  • p.Gln563Ter Multiple submitters congenital myasthenic syndrome 6
  • p.Glu343Ter Multiple submitters congenital myasthenic syndrome 6
  • p.Glu441Lys Multiple submitters congenital myasthenic syndrome
  • p.Glu555Ter Multiple submitters congenital myasthenic syndrome 6
  • p.Gly411Ter Multiple submitters congenital myasthenic syndrome 6
  • p.Gly617fs Multiple submitters congenital myasthenic syndrome 6
  • p.Ile336Thr Multiple submitters congenital myasthenic syndrome 6
  • p.Met202Arg Multiple submitters congenital myasthenic syndrome
  • p.Ser572Trp Multiple submitters congenital myasthenic syndrome
  • p.Thr354Met Multiple submitters congenital myasthenic syndrome 6
  • p.Trp198Ter Multiple submitters congenital myasthenic syndrome 6

Likely pathogenic 48

  • c.1282-2A>T Multiple submitters congenital myasthenic syndrome 6
  • c.698+1G>T Multiple submitters congenital myasthenic syndrome 6
  • c.698+2T>C Multiple submitters congenital myasthenic syndrome 6
  • p.Arg207Gly Multiple submitters congenital myasthenic syndrome 6
  • p.Arg281Trp Multiple submitters congenital myasthenic syndrome 6
  • p.Arg420Cys Multiple submitters congenital myasthenic syndrome
  • p.Arg482Gly Multiple submitters congenital myasthenic syndrome 6
  • p.Glu490fs Multiple submitters congenital myasthenic syndrome 6
  • p.Gly417Arg Multiple submitters congenital myasthenic syndrome
  • p.Pro138fs Multiple submitters congenital myasthenic syndrome 6
  • p.Ser498Pro Multiple submitters congenital myasthenic syndrome
  • c.1112-1G>C Single submitter congenital myasthenic syndrome 6
  • c.1382+2_1382+3del Single submitter congenital myasthenic syndrome 6
  • c.1383-1G>A Single submitter congenital myasthenic syndrome 6
  • c.1383-2A>G Single submitter congenital myasthenic syndrome 6
  • c.1511+1G>A Single submitter congenital myasthenic syndrome 6
  • c.1511+2T>A Single submitter congenital myasthenic syndrome 6
  • c.1776+1G>C Single submitter congenital myasthenic syndrome 6
  • c.1840-2A>G Single submitter congenital myasthenic syndrome 6
  • c.1977+1_1977+9del Single submitter congenital myasthenic syndrome 6
  • c.1978-1G>A Single submitter congenital myasthenic syndrome 6
  • c.286+2T>C Single submitter congenital myasthenic syndrome 6
  • c.698+1G>A Single submitter congenital myasthenic syndrome 6
  • c.698+2T>A Single submitter congenital myasthenic syndrome 6
  • c.753-1G>C Single submitter congenital myasthenic syndrome 6
  • c.753-2A>T Single submitter congenital myasthenic syndrome 6
  • p.Arg186Trp Single submitter congenital myasthenic syndrome ⚠
  • p.Arg28fs Single submitter congenital myasthenic syndrome 6
  • p.Arg432Ter Single submitter congenital myasthenic syndrome 6
  • p.Arg560Cys Single submitter congenital myasthenic syndrome 6
  • p.Asn419fs Single submitter congenital myasthenic syndrome 6
  • p.Cys308fs Single submitter congenital myasthenic syndrome 6
  • p.Glu156delinsAlaThrLeuGlyValTer Single submitter congenital myasthenic syndrome 6
  • p.Glu629Lys Single submitter ⚠
  • p.Glu91fs Single submitter congenital myasthenic syndrome 6
  • p.Ile336Leu Single submitter
  • p.Pro639Leu Single submitter congenital myasthenic syndrome 6
  • p.Ser498Leu Single submitter congenital myasthenic syndrome
  • p.Ser572Ter Single submitter congenital myasthenic syndrome 4C
  • p.Thr354Ser Single submitter congenital myasthenic syndrome 6 ⚠
  • p.Thr574Ile Single submitter congenital myasthenic syndrome 6
  • p.Tyr682Ter Single submitter congenital myasthenic syndrome 6
  • p.Val212Asp Single submitter congenital myasthenic syndrome 6
  • p.Val306Ala Single submitter congenital myasthenic syndrome 6
  • p.Val396_Glu397del Single submitter congenital myasthenic syndrome 6
  • p.Val474fs Single submitter congenital myasthenic syndrome 6
  • p.Val506Leu Single submitter congenital myasthenic syndrome 6
  • c.752+2T>C No assertion criteria congenital myasthenic syndrome 6

Conflicting classifications of pathogenicity 42

Benign 80

Benign/Likely benign 14

  • c.1111+8G>A Multiple submitters congenital myasthenic syndrome 6
  • c.1383-42G>C Multiple submitters
  • c.580-35G>A Multiple submitters congenital myasthenic syndrome 6
  • p.Ala120Thr Multiple submitters congenital myasthenic syndrome 6 ⚠
  • p.Arg561Gln Multiple submitters congenital myasthenic syndrome 6 ⚠
  • p.Asp379His Multiple submitters congenital myasthenic syndrome 6 ⚠
  • p.Asp400Asn Multiple submitters congenital myasthenic syndrome 6 ⚠
  • p.Leu243Phe Multiple submitters congenital myasthenic syndrome 6 ⚠
  • p.Leu249Val Multiple submitters congenital myasthenic syndrome 6
  • p.Leu458Phe Multiple submitters congenital myasthenic syndrome 6 ⚠
  • p.Pro299Leu Multiple submitters congenital myasthenic syndrome 6
  • p.Ser399= Multiple submitters congenital myasthenic syndrome 6
  • p.Thr109= Multiple submitters congenital myasthenic syndrome 6
  • p.Tyr146= Multiple submitters congenital myasthenic syndrome 6

Likely benign 461

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

  • c.1511+11C>T Multiple submitters congenital myasthenic syndrome 6
  • c.1511+19T>G Multiple submitters congenital myasthenic syndrome 6
  • c.1839+12C>T Multiple submitters congenital myasthenic syndrome 6
  • c.286+79C>T Multiple submitters
  • c.287-442C>T Multiple submitters
  • c.388-18A>G Multiple submitters congenital myasthenic syndrome 6
  • c.933+195G>A Multiple submitters
  • p.Asn683= Multiple submitters congenital myasthenic syndrome 6
  • p.Asp391= Multiple submitters Inborn genetic diseases
  • p.Ile535= Multiple submitters congenital myasthenic syndrome 6
  • p.Pro726= Multiple submitters congenital myasthenic syndrome 6
  • p.Thr145= Multiple submitters congenital myasthenic syndrome 6
  • p.Thr728Ile Multiple submitters congenital myasthenic syndrome 6 ⚠
  • c.1111+11G>A Single submitter congenital myasthenic syndrome 6
  • c.1111+13G>A Single submitter congenital myasthenic syndrome 6
  • c.1111+13G>T Single submitter congenital myasthenic syndrome 6
  • c.1111+16C>T Single submitter congenital myasthenic syndrome 6
  • c.1111+19C>T Single submitter congenital myasthenic syndrome 6
  • c.1111+7C>T Single submitter congenital myasthenic syndrome 6
  • c.1112-12C>A Single submitter congenital myasthenic syndrome 6
  • c.1112-12C>T Single submitter congenital myasthenic syndrome 6
  • c.1112-14T>C Single submitter congenital myasthenic syndrome 6
  • c.1112-16C>A Single submitter congenital myasthenic syndrome 6
  • c.1112-16C>T Single submitter congenital myasthenic syndrome 6
  • c.1112-20T>G Single submitter congenital myasthenic syndrome 6
  • c.1112-4G>A Single submitter congenital myasthenic syndrome 6
  • c.1112-54G>A Single submitter
  • c.1112-5T>C Single submitter congenital myasthenic syndrome 6
  • c.1112-6C>A Single submitter congenital myasthenic syndrome 6
  • c.1112-8C>T Single submitter congenital myasthenic syndrome 6
  • c.1281+18C>T Single submitter congenital myasthenic syndrome 6
  • c.1281+7C>T Single submitter congenital myasthenic syndrome 6
  • c.1281+8G>A Single submitter congenital myasthenic syndrome 6
  • c.1282-11T>C Single submitter congenital myasthenic syndrome 6
  • c.1282-13T>C Single submitter congenital myasthenic syndrome 6
  • c.1282-14_1282-13del Single submitter congenital myasthenic syndrome 6
  • c.1282-16C>T Single submitter congenital myasthenic syndrome 6
  • c.1282-19T>C Single submitter congenital myasthenic syndrome 6
  • c.1282-4G>A Single submitter congenital myasthenic syndrome 6
  • c.1282-6T>C Single submitter congenital myasthenic syndrome 6
  • c.1382+120AC[12] Single submitter
  • c.1382+18G>A Single submitter congenital myasthenic syndrome 6
  • c.1382+8T>G Single submitter congenital myasthenic syndrome 6
  • c.1383-16G>T Single submitter congenital myasthenic syndrome 6
  • c.1383-17T>C Single submitter congenital myasthenic syndrome 6
  • c.1383-17T>G Single submitter congenital myasthenic syndrome 6
  • c.1383-20G>A Single submitter congenital myasthenic syndrome 6
  • c.1383-20G>C Single submitter congenital myasthenic syndrome 6
  • c.1383-252C>G Single submitter
  • c.1383-4G>A Single submitter congenital myasthenic syndrome 6
  • c.1383-5C>T Single submitter congenital myasthenic syndrome 6
  • c.1383-7C>T Single submitter congenital myasthenic syndrome 6
  • c.1511+12C>T Single submitter congenital myasthenic syndrome 6
  • c.1511+13G>A Single submitter congenital myasthenic syndrome 6
  • c.1511+13G>C Single submitter congenital myasthenic syndrome 6
  • c.1511+13G>T Single submitter congenital myasthenic syndrome 6
  • c.1511+186T>C Single submitter
  • c.1511+18C>T Single submitter congenital myasthenic syndrome 6
  • c.1511+20C>T Single submitter congenital myasthenic syndrome 6
  • c.1511+8T>C Single submitter congenital myasthenic syndrome 6
  • c.1512-10T>C Single submitter congenital myasthenic syndrome 6
  • c.1512-12T>C Single submitter congenital myasthenic syndrome 6
  • c.1512-14T>A Single submitter congenital myasthenic syndrome 6
  • c.1512-15C>T Single submitter congenital myasthenic syndrome 6
  • c.1512-18T>C Single submitter congenital myasthenic syndrome 6
  • c.1512-20C>A Single submitter congenital myasthenic syndrome 6
  • c.1512-5C>A Single submitter congenital myasthenic syndrome 6
  • c.1512-5C>T Single submitter congenital myasthenic syndrome 6
  • c.1634+11G>C Single submitter congenital myasthenic syndrome 6
  • c.1634+17T>G Single submitter congenital myasthenic syndrome 6
  • c.1634+18G>A Single submitter congenital myasthenic syndrome 6
  • c.1634+20G>C Single submitter congenital myasthenic syndrome 6
  • c.1634+7G>A Single submitter congenital myasthenic syndrome 6
  • c.1635-12C>T Single submitter congenital myasthenic syndrome 6
  • c.1635-13T>C Single submitter congenital myasthenic syndrome 6
  • c.1635-16C>T Single submitter congenital myasthenic syndrome 6
  • c.1635-4G>A Single submitter congenital myasthenic syndrome 6
  • c.1635-5C>T Single submitter congenital myasthenic syndrome 6
  • c.1776+10G>A Single submitter congenital myasthenic syndrome 6
  • c.1776+11C>T Single submitter congenital myasthenic syndrome 6
  • c.1776+12C>T Single submitter congenital myasthenic syndrome 6
  • c.1776+15_1776+17del Single submitter congenital myasthenic syndrome 6
  • c.1776+15A>G Single submitter congenital myasthenic syndrome 6
  • c.1776+16C>A Single submitter congenital myasthenic syndrome 6
  • c.1776+16C>G Single submitter congenital myasthenic syndrome 6
  • c.1776+18C>A Single submitter congenital myasthenic syndrome 6
  • c.1776+7C>A Single submitter congenital myasthenic syndrome 6
  • c.1776+7C>G Single submitter congenital myasthenic syndrome 6
  • c.1776+7C>T Single submitter congenital myasthenic syndrome 6
  • c.1777-11T>C Single submitter congenital myasthenic syndrome 6
  • c.1777-12T>C Single submitter congenital myasthenic syndrome 6
  • c.1777-13G>A Single submitter congenital myasthenic syndrome 6
  • c.1777-14T>G Single submitter congenital myasthenic syndrome 6
  • c.1777-17_1777-16del Single submitter congenital myasthenic syndrome 6
  • c.1777-20C>A Single submitter congenital myasthenic syndrome 6
  • c.1777-7T>C Single submitter congenital myasthenic syndrome 6
  • c.1839+10G>A Single submitter congenital myasthenic syndrome 6
  • c.1839+13G>A Single submitter congenital myasthenic syndrome 6
  • c.1839+14C>T Single submitter congenital myasthenic syndrome 6
  • c.1839+9C>T Single submitter congenital myasthenic syndrome 6
  • c.1840-10A>G Single submitter congenital myasthenic syndrome 6
  • c.1840-13C>T Single submitter congenital myasthenic syndrome 6
  • c.1840-14C>G Single submitter congenital myasthenic syndrome 6
  • c.1840-17T>C Single submitter congenital myasthenic syndrome 6
  • c.1840-192C>G Single submitter
  • c.1840-4A>G Single submitter congenital myasthenic syndrome 6
  • c.1840-7T>C Single submitter congenital myasthenic syndrome 6
  • c.1977+10C>T Single submitter congenital myasthenic syndrome 6
  • c.1977+11G>A Single submitter congenital myasthenic syndrome 6
  • c.1977+15A>G Single submitter congenital myasthenic syndrome 6
  • c.1977+7C>G Single submitter congenital myasthenic syndrome 6
  • c.1978-15T>C Single submitter congenital myasthenic syndrome 6
  • c.1978-20T>C Single submitter congenital myasthenic syndrome 6
  • c.1978-24C>G Single submitter
  • c.1978-5T>C Single submitter congenital myasthenic syndrome 6
  • c.1978-9C>A Single submitter congenital myasthenic syndrome 6
  • c.1978-9C>G Single submitter congenital myasthenic syndrome 6
  • c.1978-9C>T Single submitter congenital myasthenic syndrome 6
  • c.286+11GGGCT[4] Single submitter congenital myasthenic syndrome 6
  • c.286+12G>T Single submitter congenital myasthenic syndrome 6
  • c.286+13G>A Single submitter congenital myasthenic syndrome 6
  • c.286+13G>T Single submitter congenital myasthenic syndrome 6
  • c.286+16G>A Single submitter congenital myasthenic syndrome 6
  • c.286+20_286+28del Single submitter congenital myasthenic syndrome 6
  • c.286+9_286+11del Single submitter congenital myasthenic syndrome 6
  • c.287-10T>C Single submitter congenital myasthenic syndrome 6
  • c.287-12C>T Single submitter congenital myasthenic syndrome 6
  • c.287-16A>T Single submitter congenital myasthenic syndrome 6
  • c.287-441G>A Single submitter
  • c.287-4C>G Single submitter congenital myasthenic syndrome 6
  • c.287-8G>A Single submitter congenital myasthenic syndrome 6
  • c.287-9G>C Single submitter congenital myasthenic syndrome 6
  • c.387+16A>G Single submitter congenital myasthenic syndrome 6
  • c.387+17G>A Single submitter congenital myasthenic syndrome 6
  • c.387+18C>A Single submitter congenital myasthenic syndrome 6
  • c.387+9C>T Single submitter congenital myasthenic syndrome 6
  • c.388-11C>G Single submitter congenital myasthenic syndrome 6
  • c.388-11del Single submitter congenital myasthenic syndrome 6
  • c.388-12C>A Single submitter congenital myasthenic syndrome 6
  • c.388-12C>T Single submitter congenital myasthenic syndrome 6
  • c.388-16G>A Single submitter congenital myasthenic syndrome 6
  • c.388-17T>C Single submitter congenital myasthenic syndrome 6
  • c.388-4C>T Single submitter congenital myasthenic syndrome 6
  • c.388-6T>C Single submitter congenital myasthenic syndrome 6
  • c.579+10G>C Single submitter congenital myasthenic syndrome 6
  • c.579+18G>T Single submitter congenital myasthenic syndrome 6
  • c.579+19G>A Single submitter congenital myasthenic syndrome 6
  • c.579+240T>A Single submitter
  • c.579+37C>T Single submitter
  • c.579+7G>A Single submitter congenital myasthenic syndrome 6
  • c.579+9G>A Single submitter congenital myasthenic syndrome 6
  • c.580-11dup Single submitter congenital myasthenic syndrome 6
  • c.580-13C>A Single submitter congenital myasthenic syndrome 6
  • c.580-16C>T Single submitter congenital myasthenic syndrome 6
  • c.580-17C>G Single submitter congenital myasthenic syndrome 6
  • c.580-5G>C Single submitter congenital myasthenic syndrome 6
  • c.580-6C>G Single submitter congenital myasthenic syndrome 6
  • c.580-6C>T Single submitter congenital myasthenic syndrome 6
  • c.580-8C>T Single submitter congenital myasthenic syndrome 6
  • c.580-9C>G Single submitter congenital myasthenic syndrome 6
  • c.698+10T>C Single submitter congenital myasthenic syndrome 6
  • c.698+137C>T Single submitter
  • c.698+15C>G Single submitter congenital myasthenic syndrome 6
  • c.698+196A>G Single submitter
  • c.698+19T>A Single submitter congenital myasthenic syndrome 6
  • c.698+289G>T Single submitter
  • c.698+303C>A Single submitter
  • c.698+60C>T Single submitter
  • c.698+7C>T Single submitter congenital myasthenic syndrome 6
  • c.699-14C>T Single submitter congenital myasthenic syndrome 6
  • c.699-169G>T Single submitter
  • c.699-18C>T Single submitter congenital myasthenic syndrome 6
  • c.699-4G>T Single submitter congenital myasthenic syndrome 6
  • c.699-5T>C Single submitter congenital myasthenic syndrome 6
  • c.699-6C>T Single submitter congenital myasthenic syndrome 6
  • c.699-9T>G Single submitter congenital myasthenic syndrome 6
  • c.752+19T>C Single submitter congenital myasthenic syndrome 6
  • c.752+55T>A Single submitter
  • c.753-10T>C Single submitter congenital myasthenic syndrome 6
  • c.753-11C>T Single submitter congenital myasthenic syndrome 6
  • c.753-12C>T Single submitter congenital myasthenic syndrome 6
  • c.753-13T>C Single submitter congenital myasthenic syndrome 6
  • c.753-14C>T Single submitter congenital myasthenic syndrome 6
  • c.933+10C>A Single submitter congenital myasthenic syndrome 6
  • c.933+12C>T Single submitter congenital myasthenic syndrome 6
  • c.933+16T>C Single submitter congenital myasthenic syndrome 6
  • c.933+18T>C Single submitter congenital myasthenic syndrome 6
  • c.933+61G>A Single submitter
  • c.933+9C>A Single submitter congenital myasthenic syndrome 6
  • c.934-156C>T Single submitter
  • c.934-15C>T Single submitter congenital myasthenic syndrome 6
  • c.934-16C>A Single submitter congenital myasthenic syndrome 6
  • c.934-181C>T Single submitter
  • c.934-19T>G Single submitter congenital myasthenic syndrome 6
  • c.934-6C>T Single submitter congenital myasthenic syndrome 6
  • c.934-7C>T Single submitter congenital myasthenic syndrome 6
  • c.934-8C>T Single submitter congenital myasthenic syndrome 6
  • p.Ala121= Single submitter congenital myasthenic syndrome 6
  • p.Ala144= Single submitter congenital myasthenic syndrome 6
  • p.Ala164= Single submitter congenital myasthenic syndrome 6
  • p.Ala217= Single submitter congenital myasthenic syndrome 6
  • p.Ala247= Single submitter congenital myasthenic syndrome 6
  • p.Ala362= Single submitter congenital myasthenic syndrome 6
  • p.Ala364= Single submitter congenital myasthenic syndrome 6
  • p.Ala392= Single submitter congenital myasthenic syndrome 6
  • p.Ala404= Single submitter congenital myasthenic syndrome 6
  • p.Ala418= Single submitter congenital myasthenic syndrome 6
  • p.Ala479= Single submitter congenital myasthenic syndrome 6
  • p.Ala496= Single submitter congenital myasthenic syndrome 6
  • p.Ala499= Single submitter congenital myasthenic syndrome 6
  • p.Ala52= Single submitter congenital myasthenic syndrome 6
  • p.Ala538= Single submitter congenital myasthenic syndrome 6
  • p.Ala542= Single submitter congenital myasthenic syndrome 6
  • p.Ala557= Single submitter congenital myasthenic syndrome 6
  • p.Ala577= Single submitter congenital myasthenic syndrome 6
  • p.Ala583= Single submitter congenital myasthenic syndrome 6
  • p.Ala589= Single submitter congenital myasthenic syndrome 6
  • p.Ala6= Single submitter congenital myasthenic syndrome 6
  • p.Ala609= Single submitter congenital myasthenic syndrome 6
  • p.Ala680= Single submitter congenital myasthenic syndrome 6
  • p.Ala76= Single submitter congenital myasthenic syndrome 6
  • p.Ala84= Single submitter congenital myasthenic syndrome 6
  • p.Ala85= Single submitter congenital myasthenic syndrome 6
  • p.Ala87= Single submitter congenital myasthenic syndrome 6
  • p.Arg117Cys Single submitter congenital myasthenic syndrome 6 ⚠
  • p.Arg151= Single submitter congenital myasthenic syndrome 6
  • p.Arg207= Single submitter congenital myasthenic syndrome 6
  • p.Arg222Gln Single submitter congenital myasthenic syndrome 6
  • p.Arg28= Single submitter congenital myasthenic syndrome 6
  • p.Arg281= Single submitter congenital myasthenic syndrome 6
  • p.Arg29= Single submitter congenital myasthenic syndrome 6
  • p.Arg32= Single submitter congenital myasthenic syndrome 6
  • p.Arg322= Single submitter congenital myasthenic syndrome 6
  • p.Arg346= Single submitter congenital myasthenic syndrome 6
  • p.Arg358= Single submitter congenital myasthenic syndrome 6
  • p.Arg375= Single submitter congenital myasthenic syndrome 6
  • p.Arg383= Single submitter congenital myasthenic syndrome 6
  • p.Arg42= Single submitter congenital myasthenic syndrome 6
  • p.Arg466= Single submitter congenital myasthenic syndrome 6
  • p.Arg470= Single submitter congenital myasthenic syndrome 6
  • p.Arg481= Single submitter congenital myasthenic syndrome 6
  • p.Arg484= Single submitter congenital myasthenic syndrome 6
  • p.Arg484Gln Single submitter congenital myasthenic syndrome 6
  • p.Arg566= Single submitter congenital myasthenic syndrome 6
  • p.Arg582= Single submitter congenital myasthenic syndrome 6
  • p.Arg62= Single submitter congenital myasthenic syndrome 6
  • p.Arg652= Single submitter congenital myasthenic syndrome 6
  • p.Arg652Gln Single submitter congenital myasthenic syndrome 6
  • p.Arg66= Single submitter congenital myasthenic syndrome 6
  • p.Arg9= Single submitter congenital myasthenic syndrome 6
  • p.Arg94= Single submitter congenital myasthenic syndrome 6
  • p.Asn206= Single submitter congenital myasthenic syndrome 6
  • p.Asn342= Single submitter congenital myasthenic syndrome 6
  • p.Asn518= Single submitter congenital myasthenic syndrome 6
  • p.Asp229Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp257= Single submitter congenital myasthenic syndrome 6
  • p.Asp328= Single submitter congenital myasthenic syndrome 6
  • p.Asp344= Single submitter congenital myasthenic syndrome 6
  • p.Asp356= Single submitter congenital myasthenic syndrome 6
  • p.Asp379= Single submitter congenital myasthenic syndrome 6
  • p.Asp423= Single submitter congenital myasthenic syndrome 6
  • p.Asp433= Single submitter congenital myasthenic syndrome 6
  • p.Asp446= Single submitter congenital myasthenic syndrome 6
  • p.Asp510= Single submitter congenital myasthenic syndrome 6
  • p.Asp621= Single submitter congenital myasthenic syndrome 6
  • p.Asp717= Single submitter congenital myasthenic syndrome 6
  • p.Cys100= Single submitter congenital myasthenic syndrome 6
  • p.Cys389= Single submitter congenital myasthenic syndrome 6
  • p.Cys440= Single submitter congenital myasthenic syndrome 6
  • p.Cys722= Single submitter congenital myasthenic syndrome 6
  • p.Gln140= Single submitter congenital myasthenic syndrome 6
  • p.Gln148= Single submitter congenital myasthenic syndrome 6
  • p.Gln148Arg Single submitter Inborn genetic diseases
  • p.Gln158= Single submitter congenital myasthenic syndrome 6
  • p.Gln231= Single submitter congenital myasthenic syndrome 6
  • p.Gln266= Single submitter congenital myasthenic syndrome 6
  • p.Gln287= Single submitter congenital myasthenic syndrome 6
  • p.Gln38His Single submitter congenital myasthenic syndrome 6
  • p.Gln452= Single submitter congenital myasthenic syndrome 6
  • p.Gln463= Single submitter congenital myasthenic syndrome 6
  • p.Gln744= Single submitter congenital myasthenic syndrome 6
  • p.Glu360= Single submitter congenital myasthenic syndrome 6
  • p.Glu555= Single submitter congenital myasthenic syndrome 6
  • p.Glu576= Single submitter congenital myasthenic syndrome 6
  • p.Glu595= Single submitter congenital myasthenic syndrome 6
  • p.Glu637= Single submitter congenital myasthenic syndrome 6
  • p.Glu645= Single submitter congenital myasthenic syndrome 6
  • p.Glu665= Single submitter congenital myasthenic syndrome 6
  • p.Glu80= Single submitter congenital myasthenic syndrome 6
  • p.Glu91= Single submitter congenital myasthenic syndrome 6
  • p.Gly10= Single submitter congenital myasthenic syndrome 6
  • p.Gly105= Single submitter congenital myasthenic syndrome 6
  • p.Gly12= Single submitter congenital myasthenic syndrome 6
  • p.Gly14= Single submitter congenital myasthenic syndrome 6
  • p.Gly15= Single submitter congenital myasthenic syndrome 6
  • p.Gly176= Single submitter congenital myasthenic syndrome 6
  • p.Gly227= Single submitter congenital myasthenic syndrome 6
  • p.Gly265= Single submitter congenital myasthenic syndrome 6
  • p.Gly275= Single submitter congenital myasthenic syndrome 6
  • p.Gly327= Single submitter congenital myasthenic syndrome 6

Uncertain significance 317

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