GFPT1 — 627 ClinVar variants
All ClinVar germline GFPT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 149 flagged for review →
25 Pathogenic · 4 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 16 Conflicting · 67 Benign · 6 Benign/Likely benign · 219 Likely benign · 271 Uncertain significance
Full GFPT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 149
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
GFPT1 p.Arg14Gln
Pathogenic/Likely pathogenic
Multiple submitters
congenital myasthenic syndrome 4C
-
GFPT1 p.Thr15Met
Pathogenic
Multiple submitters
congenital myasthenic syndrome 12
-
GFPT1 p.Lys133Arg
Likely pathogenic
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Asp366Tyr
Pathogenic
No assertion criteria
congenital myasthenic syndrome 12
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GFPT1 p.Met358Val
Conflicting
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Phe437Leu
Conflicting
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Val627Met
Conflicting
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Val628Ile
Conflicting
Single submitter
congenital myasthenic syndrome 12
Predictors lean, ClinVar uncertain 112
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GFPT1 p.Ala507Ser
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 12
-
GFPT1 p.Ala92Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFPT1 p.Arg239Gln
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 12
-
GFPT1 p.Asn162His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFPT1 p.Asn46Ser
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 12
-
GFPT1 p.Asn53Ser
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 12
-
GFPT1 p.Asp113Gly
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 12
-
GFPT1 p.Gln110Arg
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 12
-
GFPT1 p.Gln77Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFPT1 p.Gly204Asp
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 12
-
GFPT1 p.Ile334Asn
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 12
-
GFPT1 p.Lys654Asn
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 12
-
GFPT1 p.Met79Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFPT1 p.Thr368Ile
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 12
-
GFPT1 p.Thr643Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFPT1 p.Ala301Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
- GFPT1 p.Ala52Thr Uncertain significance Single submitter
- GFPT1 p.Ala54Ser Uncertain significance Single submitter
- GFPT1 p.Arg16Ser Uncertain significance Single submitter
- GFPT1 p.Arg212Trp Uncertain significance Single submitter
-
GFPT1 p.Arg239Trp
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
- GFPT1 p.Arg290His Uncertain significance Single submitter
-
GFPT1 p.Arg385Gln
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Arg386His
Uncertain significance
Single submitter
hereditary ataxia
-
GFPT1 p.Arg514Trp
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Arg521Cys
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Arg563Gly
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Arg633Gln
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Arg95Cys
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Asn123Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
- GFPT1 p.Asp167Glu Uncertain significance Single submitter
-
GFPT1 p.Asp304Ala
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
- GFPT1 p.Asp366Asn Uncertain significance Single submitter
-
GFPT1 p.Asp36Gly
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Asp512Asn
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Asp542Tyr
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Asp642Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Asp78Asn
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Asp78Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFPT1 p.Cys2Trp
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Gln180Leu
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Gln197Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Gln197Glu
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Gln333Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
- GFPT1 p.Gln77Glu Uncertain significance Single submitter
-
GFPT1 p.Glu269Gly
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Glu295Lys
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Glu31Asp
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Glu51Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFPT1 p.Glu592Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFPT1 p.Glu641Gly
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Gly183Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Gly196Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFPT1 p.Gly360Glu
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Gly393Ala
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Gly39Asp
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Gly39Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Gly562Glu
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.His215Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.His310Leu
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.His657Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.His74Gln
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Ile121Thr
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Ile126Phe
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Ile152Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFPT1 p.Ile178Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFPT1 p.Ile19Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Ile224Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Ile233Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Ile646Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Ile669Phe
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Ile83Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Leu132Phe
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Leu409Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFPT1 p.Leu624Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFPT1 p.Leu666Pro
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Lys313Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
- GFPT1 p.Lys494Asn Uncertain significance Single submitter
-
GFPT1 p.Lys640Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Met358Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFPT1 p.Met358Ile
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Met449Leu
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Phe135Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Phe237Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Phe422Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFPT1 p.Phe42Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Phe437Ile
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
- GFPT1 p.Phe5Tyr Uncertain significance Single submitter
-
GFPT1 p.Pro102Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Pro102His
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Pro13Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFPT1 p.Pro689Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFPT1 p.Ser169Gly
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
- GFPT1 p.Ser191Asn Uncertain significance Single submitter
-
GFPT1 p.Ser218Pro
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Ser395Gly
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Ser471Phe
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Ser516Phe
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Thr219Ala
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Thr447Ala
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Thr569Pro
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Thr652Met
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Trp240Leu
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Tyr10Cys
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Tyr396Phe
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
- GFPT1 p.Tyr684Cys Uncertain significance Single submitter
-
GFPT1 p.Val120Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFPT1 p.Val211Glu
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Val268Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFPT1 p.Val369Met
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Val40Leu
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Val501Ile
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
Predictors split 29
The independent predictors disagree with each other — read with care.
-
GFPT1 p.Arg163Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFPT1 p.Arg452Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFPT1 p.Asp82Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFPT1 p.Gly196Arg
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 12
-
GFPT1 p.Thr15Ala
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 12
-
GFPT1 p.Val105Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFPT1 p.Val462Leu
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 12
-
GFPT1 p.Ala419Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Arg163Gln
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Arg17Gln
Conflicting
Single submitter
congenital myasthenic syndrome 12
- GFPT1 p.Arg403His Uncertain significance Single submitter
-
GFPT1 p.Arg530Trp
Conflicting
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Asp49Tyr
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Asp70Gly
Conflicting
Single submitter
Inborn genetic diseases
-
GFPT1 p.Asp80Gly
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Glu164Gly
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Glu537Ala
Conflicting
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Gly196Glu
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
- GFPT1 p.Gly321Arg Uncertain significance Single submitter
-
GFPT1 p.Gly45Asp
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Gly45Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Ile312Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFPT1 p.Leu217Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Lys154Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Met335Leu
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Met415Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Ser138Cys
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Thr652Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
-
GFPT1 p.Val105Leu
Uncertain significance
Single submitter
congenital myasthenic syndrome 12
All GFPT1 variants
Pathogenic 25
- c.686-2A>G Multiple submitters GFPT1-related disorder
- p.Ala229_Arg230insTer Multiple submitters congenital myasthenic syndrome 12
- p.Gly247fs Multiple submitters congenital myasthenic syndrome 12
- p.Thr15Met Multiple submitters congenital myasthenic syndrome 12 ⚠
- p.Arg239fs Single submitter congenital myasthenic syndrome 12
- p.Arg311Ter Single submitter congenital myasthenic syndrome 12
- p.Arg322Ter Single submitter congenital myasthenic syndrome 12
- p.Arg431fs Single submitter congenital myasthenic syndrome 12
- p.Arg431Ter Single submitter congenital myasthenic syndrome 12
- p.Cys254Ter Single submitter congenital myasthenic syndrome 12
- p.Gln243fs Single submitter congenital myasthenic syndrome 12
- p.Gln328Ter Single submitter congenital myasthenic syndrome 12
- p.Leu30fs Single submitter congenital myasthenic syndrome 12
- p.Lys248fs Single submitter congenital myasthenic syndrome 12
- p.Met1Arg Single submitter congenital myasthenic syndrome 12
- p.Ser257fs Single submitter congenital myasthenic syndrome 12
- p.Trp240Ter Single submitter congenital myasthenic syndrome 12
- p.Tyr617Ter Single submitter congenital myasthenic syndrome 12
- p.Val66fs Single submitter congenital myasthenic syndrome 12
- c.686-1G>A No assertion criteria congenital myasthenic syndrome 12
- p.Arg14Leu No assertion criteria congenital myasthenic syndrome 12
- p.Asp366Tyr No assertion criteria congenital myasthenic syndrome 12 ⚠
- p.Gln76fs No assertion criteria congenital myasthenic syndrome 12
- p.Leu207_Leu208insTer No assertion criteria congenital myasthenic syndrome 12
- p.Thr151Lys No assertion criteria congenital myasthenic syndrome 12
Pathogenic/Likely pathogenic 4
- p.Arg111Cys Multiple submitters congenital myasthenic syndrome
- p.Arg111His Multiple submitters congenital myasthenic syndrome 12
- p.Arg14Gln Multiple submitters congenital myasthenic syndrome 4C ⚠
- p.Arg563Ter Multiple submitters congenital myasthenic syndrome 12
Likely pathogenic 19
- c.408+5G>A Multiple submitters congenital myasthenic syndrome 12
- c.1010-2A>G Single submitter congenital myasthenic syndrome 12
- c.1105+1G>A Single submitter congenital myasthenic syndrome 12
- c.1105+2T>C Single submitter congenital myasthenic syndrome 12
- c.1106-1G>T Single submitter congenital myasthenic syndrome 12
- c.1726-2A>G Single submitter congenital myasthenic syndrome 12
- c.686-1_686delinsAA Single submitter congenital myasthenic syndrome 12
- c.739+1G>A Single submitter congenital myasthenic syndrome
- p.Asp602Gly Single submitter congenital myasthenic syndrome 12
- p.Gln404fs Single submitter
- p.Gln663Ter Single submitter
- p.Glu71Ter Single submitter congenital myasthenic syndrome
- p.Ile285fs Single submitter congenital myasthenic syndrome 12
- p.Lys133Arg Single submitter congenital myasthenic syndrome 12 ⚠
- p.Phe422fs Single submitter
- p.Ser242Ter Single submitter GFPT1-related disorders
- p.Ser253_Cys254insTer Single submitter congenital myasthenic syndrome 12
- c.606-8A>G No assertion criteria
- p.Met509Thr No assertion criteria congenital myasthenic syndrome 12
Conflicting classifications of pathogenicity 16
- c.1010-10A>G Single submitter congenital myasthenic syndrome 12
- c.224-10T>C Single submitter congenital myasthenic syndrome 12
- c.224-12C>T Single submitter congenital myasthenic syndrome 12
- c.*22C>A Single submitter congenital myasthenic syndrome
- p.Arg17Gln Single submitter congenital myasthenic syndrome 12 ⚠
- p.Arg530Trp Single submitter congenital myasthenic syndrome 12 ⚠
- p.Asp543= Single submitter congenital myasthenic syndrome 12
- p.Asp70Gly Single submitter Inborn genetic diseases ⚠
- p.Gln626= Single submitter congenital myasthenic syndrome 4C
- p.Glu537Ala Single submitter congenital myasthenic syndrome 12 ⚠
- p.Lys345= Single submitter congenital myasthenic syndrome 12
- p.Met358Val Single submitter congenital myasthenic syndrome 12 ⚠
- p.Phe437Leu Single submitter congenital myasthenic syndrome 12 ⚠
- p.Ser667= Single submitter congenital myasthenic syndrome 12
- p.Val627Met Single submitter congenital myasthenic syndrome 12 ⚠
- p.Val628Ile Single submitter congenital myasthenic syndrome 12 ⚠
Benign 67
- c.1105+7A>G Multiple submitters congenital myasthenic syndrome 12
- c.1324+13del Multiple submitters congenital myasthenic syndrome 12
- c.1597+125G>A Multiple submitters
- c.2056-11del Multiple submitters congenital myasthenic syndrome 12
- c.2056-12_2056-11del Multiple submitters congenital myasthenic syndrome 12
- c.408+107T>G Multiple submitters
- c.408+30T>C Multiple submitters congenital myasthenic syndrome 12
- c.408+7A>T Multiple submitters congenital myasthenic syndrome 12
- c.408+97G>A Multiple submitters
- c.544-183G>A Multiple submitters
- c.7+36T>C Multiple submitters congenital myasthenic syndrome 12
- c.*2269A>G Multiple submitters congenital myasthenic syndrome 12
- c.*2310A>G Multiple submitters congenital myasthenic syndrome 12
- c.*2669C>T Multiple submitters congenital myasthenic syndrome 12
- c.*2685A>G Multiple submitters congenital myasthenic syndrome 12
- c.*3065G>A Multiple submitters congenital myasthenic syndrome 12
- c.*3091A>C Multiple submitters congenital myasthenic syndrome 12
- c.*3285A>G Multiple submitters congenital myasthenic syndrome 12
- c.*3781G>T Multiple submitters congenital myasthenic syndrome 12
- c.*4053T>A Multiple submitters congenital myasthenic syndrome 12
- c.*4059A>G Multiple submitters congenital myasthenic syndrome 12
- c.*4730G>A Multiple submitters congenital myasthenic syndrome 12
- c.*4826A>C Multiple submitters congenital myasthenic syndrome 12
- c.*5001G>A Multiple submitters congenital myasthenic syndrome 12
- c.*6085C>G Multiple submitters congenital myasthenic syndrome 12
- c.*800G>T Multiple submitters congenital myasthenic syndrome 12
- c.*870C>A Multiple submitters congenital myasthenic syndrome 12
- p.Leu225= Multiple submitters congenital myasthenic syndrome 12
- c.1010-142A>G Single submitter
- c.115+15del Single submitter congenital myasthenic syndrome 12
- c.115+15dup Single submitter congenital myasthenic syndrome 12
- c.1204-146del Single submitter
- c.1204-253_1204-251dup Single submitter
- c.1324+121G>C Single submitter
- c.1325-158A>G Single submitter
- c.1483-13del Single submitter congenital myasthenic syndrome 12
- c.1725+14G>A Single submitter congenital myasthenic syndrome 12
- c.1725+285T>G Single submitter
- c.1726-263G>A Single submitter
- c.1726-280_1726-278dup Single submitter
- c.1726-280dup Single submitter
- c.2056-293T>G Single submitter
- c.349+17dup Single submitter congenital myasthenic syndrome 12
- c.409-15del Single submitter congenital myasthenic syndrome 12
- c.409-315G>T Single submitter
- c.543+285T>C Single submitter
- c.544-11dup Single submitter congenital myasthenic syndrome 12
- c.544-185del Single submitter
- c.544-207T>C Single submitter
- c.605+206C>T Single submitter
- c.606-157dup Single submitter
- c.686-18dup Single submitter congenital myasthenic syndrome 12
- c.7+239T>C Single submitter
- c.7+271A>G Single submitter
- c.8-218dup Single submitter
- c.8-257C>T Single submitter
- c.*1085A>G Single submitter congenital myasthenic syndrome 12
- c.*1244G>T Single submitter congenital myasthenic syndrome 12
- c.*2219C>T Single submitter congenital myasthenic syndrome 12
- c.*2511T>A Single submitter congenital myasthenic syndrome 12
- c.*2907C>T Single submitter congenital myasthenic syndrome 12
- c.*3345C>T Single submitter congenital myasthenic syndrome 12
- c.*4403G>T Single submitter congenital myasthenic syndrome 12
- c.*603G>A Single submitter congenital myasthenic syndrome 12
- c.*6094C>T Single submitter congenital myasthenic syndrome 12
- c.*6366T>C Single submitter congenital myasthenic syndrome 12
- p.Val680= Single submitter congenital myasthenic syndrome 12
Benign/Likely benign 6
- c.116-12A>G Multiple submitters congenital myasthenic syndrome 12
- c.2056-10C>T Multiple submitters congenital myasthenic syndrome 12
- c.2056-11dup Multiple submitters congenital myasthenic syndrome 12
- c.223+5C>T Multiple submitters congenital myasthenic syndrome 12
- p.Asp49= Multiple submitters congenital myasthenic syndrome 12
- p.Gly183= Multiple submitters congenital myasthenic syndrome 12
Likely benign 219
- c.1725+128G>T Multiple submitters
- c.1894-53C>A Multiple submitters
- c.223+19T>C Multiple submitters congenital myasthenic syndrome 12
- c.224-55G>A Multiple submitters
- c.408+19A>G Multiple submitters congenital myasthenic syndrome 12
- c.685+15A>G Multiple submitters congenital myasthenic syndrome 12
- p.Gly140= Multiple submitters congenital myasthenic syndrome 12
- p.Leu423= Multiple submitters congenital myasthenic syndrome 12
- p.Lys578= Multiple submitters congenital myasthenic syndrome 12
- p.Thr15= Multiple submitters congenital myasthenic syndrome 12
- c.1009+17T>A Single submitter congenital myasthenic syndrome 12
- c.1009+232_1009+234del Single submitter
- c.1010-11T>C Single submitter congenital myasthenic syndrome 12
- c.1010-226_1010-224del Single submitter
- c.1010-246del Single submitter
- c.1105+207G>C Single submitter
- c.1105+7A>T Single submitter congenital myasthenic syndrome 12
- c.1106-7A>C Single submitter congenital myasthenic syndrome 12
- c.1106-9T>C Single submitter congenital myasthenic syndrome 12
- c.115+15A>G Single submitter congenital myasthenic syndrome 12
- c.115+16T>A Single submitter congenital myasthenic syndrome 12
- c.115+16T>C Single submitter congenital myasthenic syndrome 12
- c.115+17A>G Single submitter congenital myasthenic syndrome 12
- c.115+20A>G Single submitter congenital myasthenic syndrome 12
- c.115+234A>G Single submitter
- c.115+292T>C Single submitter
- c.116-17A>G Single submitter congenital myasthenic syndrome 12
- c.116-19T>C Single submitter congenital myasthenic syndrome 12
- c.116-20T>G Single submitter congenital myasthenic syndrome 12
- c.116-6G>A Single submitter congenital myasthenic syndrome 12
- c.116-6G>C Single submitter congenital myasthenic syndrome 12
- c.1204-111C>T Single submitter
- c.1204-13_1204-11dup Single submitter congenital myasthenic syndrome 12
- c.1204-13A>G Single submitter congenital myasthenic syndrome 12
- c.1204-19A>G Single submitter congenital myasthenic syndrome 12
- c.1204-253_1204-250dup Single submitter
- c.1204-316G>T Single submitter
- c.1324+10_1324+15del Single submitter congenital myasthenic syndrome 12
- c.1324+9A>C Single submitter congenital myasthenic syndrome 12
- c.1482+138A>G Single submitter
- c.1482+16A>G Single submitter congenital myasthenic syndrome 12
- c.1483-10G>A Single submitter congenital myasthenic syndrome 12
- c.1483-11T>G Single submitter congenital myasthenic syndrome 12
- c.1483-13T>G Single submitter congenital myasthenic syndrome 12
- c.1483-15T>G Single submitter congenital myasthenic syndrome 12
- c.1483-18T>C Single submitter congenital myasthenic syndrome 12
- c.1483-8T>C Single submitter congenital myasthenic syndrome 12
- c.1597+11A>C Single submitter congenital myasthenic syndrome 12
- c.1597+15dup Single submitter congenital myasthenic syndrome 12
- c.1598-16T>A Single submitter congenital myasthenic syndrome 12
- c.1598-5C>A Single submitter congenital myasthenic syndrome 12
- c.1598-8C>T Single submitter congenital myasthenic syndrome 12
- c.1598-9_1598-6del Single submitter congenital myasthenic syndrome 12
- c.1725+14G>C Single submitter congenital myasthenic syndrome 12
- c.1726-16G>C Single submitter congenital myasthenic syndrome 12
- c.1726-288T>C Single submitter
- c.1726-5A>G Single submitter congenital myasthenic syndrome 12
- c.1726-9T>C Single submitter congenital myasthenic syndrome 12
- c.1893+7C>T Single submitter congenital myasthenic syndrome 12
- c.1893+8G>A Single submitter congenital myasthenic syndrome 12
- c.1894-107G>A Single submitter
- c.1894-14A>G Single submitter congenital myasthenic syndrome 12
- c.1894-19G>C Single submitter congenital myasthenic syndrome 12
- c.1894-9C>G Single submitter congenital myasthenic syndrome 12
- c.1894-9C>T Single submitter congenital myasthenic syndrome 12
- c.2055+17T>C Single submitter congenital myasthenic syndrome 12
- c.2055+184dup Single submitter
- c.2056-10_2056-9del Single submitter congenital myasthenic syndrome 12
- c.2056-23T>C Single submitter
- c.2056-4G>T Single submitter congenital myasthenic syndrome 12
- c.2056-9T>G Single submitter congenital myasthenic syndrome 12
- c.223+68dup Single submitter
- c.224-11A>G Single submitter congenital myasthenic syndrome 12
- c.224-12C>A Single submitter congenital myasthenic syndrome 12
- c.224-18T>G Single submitter congenital myasthenic syndrome 12
- c.224-199G>A Single submitter
- c.224-20T>C Single submitter congenital myasthenic syndrome 12
- c.224-9A>G Single submitter congenital myasthenic syndrome 12
- c.350-17A>T Single submitter congenital myasthenic syndrome 12
- c.350-4_350-3del Single submitter congenital myasthenic syndrome 12
- c.350-6T>G Single submitter congenital myasthenic syndrome 12
- c.408+11T>C Single submitter congenital myasthenic syndrome 12
- c.408+12G>C Single submitter congenital myasthenic syndrome 12
- c.408+12G>T Single submitter congenital myasthenic syndrome 12
- c.408+14C>T Single submitter congenital myasthenic syndrome 12
- c.408+15C>T Single submitter congenital myasthenic syndrome 12
- c.408+9G>A Single submitter congenital myasthenic syndrome 12
- c.409-10C>T Single submitter
- c.409-8A>T Single submitter
- c.543+175C>G Single submitter
- c.543+7A>C Single submitter congenital myasthenic syndrome 12
- c.544-11T>C Single submitter congenital myasthenic syndrome 12
- c.544-186_544-185del Single submitter
- c.544-199dup Single submitter
- c.544-244C>T Single submitter
- c.544-6C>T Single submitter congenital myasthenic syndrome 12
- c.605+13C>G Single submitter congenital myasthenic syndrome 12
- c.606-19C>T Single submitter congenital myasthenic syndrome 12
- c.685+18A>G Single submitter congenital myasthenic syndrome 12
- c.686-12G>A Single submitter congenital myasthenic syndrome 12
- c.686-15G>A Single submitter congenital myasthenic syndrome 12
- c.686-15G>T Single submitter congenital myasthenic syndrome 12
- c.686-8A>G Single submitter congenital myasthenic syndrome 12
- c.7+11C>T Single submitter congenital myasthenic syndrome 12
- c.7+18G>C Single submitter congenital myasthenic syndrome 12
- c.7+20G>A Single submitter congenital myasthenic syndrome 12
- c.7+20G>T Single submitter congenital myasthenic syndrome 12
- c.7+7G>A Single submitter congenital myasthenic syndrome 12
- c.739+11C>T Single submitter congenital myasthenic syndrome 12
- c.739+19A>G Single submitter congenital myasthenic syndrome 12
- c.739+6A>G Single submitter congenital myasthenic syndrome 12
- c.739+9T>C Single submitter congenital myasthenic syndrome 12
- c.740-11A>G Single submitter congenital myasthenic syndrome 12
- c.740-16T>A Single submitter congenital myasthenic syndrome 12
- c.740-20A>G Single submitter congenital myasthenic syndrome 12
- c.740-252T>A Single submitter
- c.740-7G>A Single submitter congenital myasthenic syndrome 12
- c.740-8T>C Single submitter congenital myasthenic syndrome 12
- c.8-20A>T Single submitter congenital myasthenic syndrome 12
- c.8-347G>A Single submitter
- c.845+13A>G Single submitter congenital myasthenic syndrome 12
- c.845+15T>C Single submitter congenital myasthenic syndrome 12
- c.845+15T>G Single submitter congenital myasthenic syndrome 12
- c.845+18A>C Single submitter congenital myasthenic syndrome 12
- c.845+7T>C Single submitter congenital myasthenic syndrome 12
- c.846-13G>A Single submitter congenital myasthenic syndrome 12
- c.846-14T>C Single submitter congenital myasthenic syndrome 12
- c.846-17C>G Single submitter congenital myasthenic syndrome 12
- c.*1053G>A Single submitter congenital myasthenic syndrome 12
- c.*2364C>T Single submitter congenital myasthenic syndrome 12
- c.*2428G>A Single submitter congenital myasthenic syndrome 12
- c.*2916A>G Single submitter congenital myasthenic syndrome 12
- c.*3134A>G Single submitter congenital myasthenic syndrome 12
- c.*4274A>T Single submitter congenital myasthenic syndrome 12
- c.*4944A>G Single submitter congenital myasthenic syndrome 12
- c.*6003G>T Single submitter congenital myasthenic syndrome 12
- c.*673A>G Single submitter congenital myasthenic syndrome 12
- c.*867G>A Single submitter congenital myasthenic syndrome 12
- p.Ala153= Single submitter congenital myasthenic syndrome 12
- p.Ala278= Single submitter congenital myasthenic syndrome 12
- p.Ala316= Single submitter congenital myasthenic syndrome 12
- p.Ala445= Single submitter congenital myasthenic syndrome 12
- p.Ala491= Single submitter congenital myasthenic syndrome 12
- p.Ala574= Single submitter congenital myasthenic syndrome 12
- p.Ala618= Single submitter congenital myasthenic syndrome 12
- p.Ala623= Single submitter congenital myasthenic syndrome 12
- p.Ala693= Single submitter congenital myasthenic syndrome 12
- p.Arg163= Single submitter congenital myasthenic syndrome 12
- p.Arg29= Single submitter congenital myasthenic syndrome 12
- p.Arg290= Single submitter congenital myasthenic syndrome 12
- p.Arg33= Single submitter congenital myasthenic syndrome 12
- p.Arg361= Single submitter congenital myasthenic syndrome 12
- p.Arg514= Single submitter congenital myasthenic syndrome 12
- p.Arg563= Single submitter congenital myasthenic syndrome 12
- p.Asn648= Single submitter congenital myasthenic syndrome 12
- p.Asp432= Single submitter congenital myasthenic syndrome 12
- p.Asp86= Single submitter congenital myasthenic syndrome 12
- p.Gln404= Single submitter congenital myasthenic syndrome 12
- p.Gln440= Single submitter congenital myasthenic syndrome 12
- p.Gln518= Single submitter congenital myasthenic syndrome 12
- p.Gln672= Single submitter congenital myasthenic syndrome 12
- p.Gln76= Single submitter congenital myasthenic syndrome 12
- p.Glu117= Single submitter congenital myasthenic syndrome 12
- p.Glu18= Single submitter congenital myasthenic syndrome 12
- p.Glu214= Single submitter congenital myasthenic syndrome 12
- p.Glu274= Single submitter congenital myasthenic syndrome 12
- p.Glu352= Single submitter congenital myasthenic syndrome 12
- p.Glu523= Single submitter congenital myasthenic syndrome 12
- p.Glu537= Single submitter congenital myasthenic syndrome 12
- p.Gly317= Single submitter congenital myasthenic syndrome 12
- p.Gly485= Single submitter congenital myasthenic syndrome 12
- p.Gly596= Single submitter congenital myasthenic syndrome 12
- p.His11= Single submitter congenital myasthenic syndrome 12
- p.His319= Single submitter congenital myasthenic syndrome 12
- p.His615= Single submitter congenital myasthenic syndrome 12
- p.His677= Single submitter congenital myasthenic syndrome 12
- p.Ile119= Single submitter congenital myasthenic syndrome 12
- p.Ile19= Single submitter congenital myasthenic syndrome 12
- p.Ile292= Single submitter congenital myasthenic syndrome 12
- p.Ile347= Single submitter congenital myasthenic syndrome 12
- p.Ile4= Single submitter congenital myasthenic syndrome 12
- p.Leu155= Single submitter congenital myasthenic syndrome 12
- p.Leu256= Single submitter congenital myasthenic syndrome 12
- p.Leu327= Single submitter congenital myasthenic syndrome 12
- p.Leu448= Single submitter congenital myasthenic syndrome 12
- p.Leu548= Single submitter congenital myasthenic syndrome 12
- p.Leu589= Single submitter congenital myasthenic syndrome 12
- p.Leu662= Single submitter congenital myasthenic syndrome 12
- p.Leu681= Single submitter congenital myasthenic syndrome 12
- p.Lys154= Single submitter congenital myasthenic syndrome 12
- p.Lys603= Single submitter congenital myasthenic syndrome 12
- p.Phe143= Single submitter congenital myasthenic syndrome 12
- p.Phe42= Single submitter congenital myasthenic syndrome 12
- p.Phe500= Single submitter congenital myasthenic syndrome 12
- p.Phe676= Single submitter congenital myasthenic syndrome 12
- p.Pro102= Single submitter congenital myasthenic syndrome 12
- p.Pro109= Single submitter congenital myasthenic syndrome 12
- p.Pro195= Single submitter congenital myasthenic syndrome 12
- p.Pro223= Single submitter congenital myasthenic syndrome 12
- p.Pro267= Single submitter congenital myasthenic syndrome 12
- p.Pro320= Single submitter congenital myasthenic syndrome 12
- p.Pro486= Single submitter congenital myasthenic syndrome 12
- p.Pro597= Single submitter congenital myasthenic syndrome 12
- p.Pro656= Single submitter congenital myasthenic syndrome 12
- p.Ser470= Single submitter congenital myasthenic syndrome 12
- p.Thr22= Single submitter congenital myasthenic syndrome 12
- p.Thr652= Single submitter congenital myasthenic syndrome 12
- p.Thr697= Single submitter congenital myasthenic syndrome 12
- p.Tyr129= Single submitter congenital myasthenic syndrome 12
- p.Tyr367= Single submitter congenital myasthenic syndrome 12
- p.Tyr396= Single submitter congenital myasthenic syndrome 12
- p.Tyr565= Single submitter congenital myasthenic syndrome 12
- p.Tyr582= Single submitter congenital myasthenic syndrome 12
- p.Tyr617= Single submitter congenital myasthenic syndrome 12
- p.Val156= Single submitter congenital myasthenic syndrome 12
- p.Val199= Single submitter congenital myasthenic syndrome 12
- p.Val299= Single submitter congenital myasthenic syndrome 12
- p.Val501= Single submitter congenital myasthenic syndrome 12
- p.Val635= Single submitter congenital myasthenic syndrome 12
Uncertain significance 271
- c.1324+3G>A Multiple submitters congenital myasthenic syndrome 12
- c.1597+5A>G Multiple submitters congenital myasthenic syndrome 12
- c.223+6G>A Multiple submitters congenital myasthenic syndrome 12
- c.*1425C>T Multiple submitters congenital myasthenic syndrome 12
- p.Ala507Ser Multiple submitters congenital myasthenic syndrome 12 ⚠
- p.Ala92Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg163Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg239Gln Multiple submitters congenital myasthenic syndrome 12 ⚠
- p.Arg452Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asn162His Multiple submitters Inborn genetic diseases ⚠
- p.Asn46Ser Multiple submitters congenital myasthenic syndrome 12 ⚠
- p.Asn53Ser Multiple submitters congenital myasthenic syndrome 12 ⚠
- p.Asp113Gly Multiple submitters congenital myasthenic syndrome 12 ⚠
- p.Asp82Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gln110Arg Multiple submitters congenital myasthenic syndrome 12 ⚠
- p.Gln77Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu269Lys Multiple submitters Inborn genetic diseases
- p.Gly196Arg Multiple submitters congenital myasthenic syndrome 12 ⚠
- p.Gly204Asp Multiple submitters congenital myasthenic syndrome 12 ⚠
- p.Ile334Asn Multiple submitters congenital myasthenic syndrome 12 ⚠
- p.Lys654Asn Multiple submitters congenital myasthenic syndrome 12 ⚠
- p.Met79Thr Multiple submitters Inborn genetic diseases ⚠
- p.Thr15Ala Multiple submitters congenital myasthenic syndrome 12 ⚠
- p.Thr368Ile Multiple submitters congenital myasthenic syndrome 12 ⚠
- p.Thr643Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val105Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val462Leu Multiple submitters congenital myasthenic syndrome 12 ⚠
- c.1203+12T>A Single submitter congenital myasthenic syndrome 12
- c.1204-3C>T Single submitter congenital myasthenic syndrome 12
- c.1725+3A>G Single submitter
- c.2055+1G>T Single submitter
- c.2055+3A>G Single submitter congenital myasthenic syndrome 12
- c.350-3T>C Single submitter congenital myasthenic syndrome 12
- c.409-1_409delinsAA Single submitter
- c.606-3C>T Single submitter congenital myasthenic syndrome 12
- c.845+6C>T Single submitter congenital myasthenic syndrome 12
- c.-125C>T Single submitter congenital myasthenic syndrome 12
- c.-143G>T Single submitter congenital myasthenic syndrome 12
- c.-153G>A Single submitter congenital myasthenic syndrome 12
- c.-32C>T Single submitter congenital myasthenic syndrome 12
- c.-34C>T Single submitter congenital myasthenic syndrome 12
- c.-80T>C Single submitter congenital myasthenic syndrome 12
- c.*1057G>A Single submitter congenital myasthenic syndrome 12
- c.*1083A>C Single submitter congenital myasthenic syndrome 12
- c.*1090G>A Single submitter congenital myasthenic syndrome 12
- c.*112C>T Single submitter congenital myasthenic syndrome 12
- c.*1168C>T Single submitter congenital myasthenic syndrome 12
- c.*1401G>A Single submitter congenital myasthenic syndrome 12
- c.*1461T>G Single submitter congenital myasthenic syndrome 12
- c.*1464A>G Single submitter congenital myasthenic syndrome 12
- c.*1540A>T Single submitter congenital myasthenic syndrome 12
- c.*1639A>G Single submitter congenital myasthenic syndrome 12
- c.*169C>T Single submitter congenital myasthenic syndrome 12
- c.*1738C>A Single submitter congenital myasthenic syndrome 12
- c.*1741C>G Single submitter congenital myasthenic syndrome 12
- c.*176C>T Single submitter congenital myasthenic syndrome 12
- c.*1869A>G Single submitter congenital myasthenic syndrome 12
- c.*186G>T Single submitter congenital myasthenic syndrome 12
- c.*1901A>G Single submitter congenital myasthenic syndrome 12
- c.*196G>A Single submitter congenital myasthenic syndrome 12
- c.*1G>C Single submitter congenital myasthenic syndrome 12
- c.*2017A>G Single submitter congenital myasthenic syndrome 12
- c.*2223C>T Single submitter congenital myasthenic syndrome 12
- c.*22C>T Single submitter congenital myasthenic syndrome 12
- c.*2323C>T Single submitter congenital myasthenic syndrome 12
- c.*2325G>A Single submitter congenital myasthenic syndrome 12
- c.*2368C>T Single submitter congenital myasthenic syndrome 12
- c.*2410C>T Single submitter congenital myasthenic syndrome 12
- c.*2418C>T Single submitter congenital myasthenic syndrome 12
- c.*2420C>T Single submitter congenital myasthenic syndrome 12
- c.*2464C>A Single submitter congenital myasthenic syndrome 12
- c.*2473C>T Single submitter congenital myasthenic syndrome 12
- c.*2498A>G Single submitter congenital myasthenic syndrome 12
- c.*2508A>T Single submitter congenital myasthenic syndrome 12
- c.*2509A>T Single submitter congenital myasthenic syndrome 12
- c.*2510A>T Single submitter congenital myasthenic syndrome 12
- c.*2510del Single submitter
- c.*2622G>A Single submitter congenital myasthenic syndrome 12
- c.*2634C>T Single submitter congenital myasthenic syndrome 12
- c.*2720C>T Single submitter congenital myasthenic syndrome 12
- c.*2722C>T Single submitter congenital myasthenic syndrome 12
- c.*272T>G Single submitter congenital myasthenic syndrome 12
- c.*2758G>A Single submitter congenital myasthenic syndrome 12
- c.*3019G>T Single submitter congenital myasthenic syndrome 12
- c.*3021T>A Single submitter congenital myasthenic syndrome 12
- c.*3090G>T Single submitter congenital myasthenic syndrome 12
- c.*3091A>T Single submitter congenital myasthenic syndrome 12
- c.*3287G>A Single submitter congenital myasthenic syndrome 12
- c.*3345C>G Single submitter congenital myasthenic syndrome 12
- c.*3385G>A Single submitter congenital myasthenic syndrome 12
- c.*3438A>G Single submitter congenital myasthenic syndrome 12
- c.*3576A>G Single submitter congenital myasthenic syndrome 12
- c.*3579T>C Single submitter congenital myasthenic syndrome 12
- c.*3679G>C Single submitter congenital myasthenic syndrome 12
- c.*383T>G Single submitter congenital myasthenic syndrome 12
- c.*3921C>T Single submitter congenital myasthenic syndrome 12
- c.*395C>T Single submitter congenital myasthenic syndrome 12
- c.*4121A>G Single submitter congenital myasthenic syndrome 12
- c.*4229A>T Single submitter congenital myasthenic syndrome 12
- c.*4230C>T Single submitter congenital myasthenic syndrome 12
- c.*4259C>T Single submitter congenital myasthenic syndrome 12
- c.*4375A>G Single submitter congenital myasthenic syndrome 12
- c.*4520G>C Single submitter congenital myasthenic syndrome 12
- c.*454T>G Single submitter congenital myasthenic syndrome 12
- c.*4650A>G Single submitter congenital myasthenic syndrome 12
- c.*4724A>T Single submitter congenital myasthenic syndrome 12
- c.*4761G>A Single submitter congenital myasthenic syndrome 12
- c.*4830A>G Single submitter congenital myasthenic syndrome 12
- c.*5004G>A Single submitter congenital myasthenic syndrome 12
- c.*5261G>C Single submitter congenital myasthenic syndrome 12
- c.*52C>A Single submitter congenital myasthenic syndrome 12
- c.*5325T>G Single submitter congenital myasthenic syndrome 12
- c.*5353C>T Single submitter congenital myasthenic syndrome 12
- c.*5390T>G Single submitter congenital myasthenic syndrome 12
- c.*5401dup Single submitter
- c.*5432G>A Single submitter congenital myasthenic syndrome 12
- c.*5437G>A Single submitter congenital myasthenic syndrome 12
- c.*5448A>G Single submitter congenital myasthenic syndrome 12
- c.*5464A>G Single submitter congenital myasthenic syndrome 12
- c.*5476C>T Single submitter congenital myasthenic syndrome 12
- c.*5514G>T Single submitter congenital myasthenic syndrome 12
- c.*5673C>T Single submitter congenital myasthenic syndrome 12
- c.*5713T>C Single submitter congenital myasthenic syndrome 12
- c.*5764A>G Single submitter congenital myasthenic syndrome 12
- c.*5800G>A Single submitter congenital myasthenic syndrome 12
- c.*5820C>T Single submitter congenital myasthenic syndrome 12
- c.*5884A>G Single submitter congenital myasthenic syndrome 12
- c.*6016C>T Single submitter congenital myasthenic syndrome 12
- c.*6039G>T Single submitter congenital myasthenic syndrome 12
- c.*6102T>G Single submitter congenital myasthenic syndrome 12
- c.*6126A>G Single submitter congenital myasthenic syndrome 12
- c.*6136C>T Single submitter congenital myasthenic syndrome 12
- c.*6284G>A Single submitter congenital myasthenic syndrome 12
- c.*635G>A Single submitter congenital myasthenic syndrome 12
- c.*6378G>A Single submitter congenital myasthenic syndrome 12
- c.*666T>C Single submitter congenital myasthenic syndrome 12
- c.*689A>G Single submitter congenital myasthenic syndrome 12
- c.*819T>C Single submitter congenital myasthenic syndrome 12
- c.*86C>A Single submitter congenital myasthenic syndrome 12
- c.*977T>C Single submitter congenital myasthenic syndrome 12
- p.Ala301Gly Single submitter congenital myasthenic syndrome 12
- p.Ala301Val Single submitter congenital myasthenic syndrome 12 ⚠
- p.Ala419Ser Single submitter congenital myasthenic syndrome 12 ⚠
- p.Ala495Ser Single submitter congenital myasthenic syndrome 12
- p.Ala52Thr Single submitter ⚠
- p.Ala54Ser Single submitter ⚠
- p.Arg111Gly Single submitter congenital myasthenic syndrome 12
- p.Arg163Gln Single submitter congenital myasthenic syndrome 12 ⚠
- p.Arg16Ser Single submitter ⚠
- p.Arg212Trp Single submitter ⚠
- p.Arg239Trp Single submitter congenital myasthenic syndrome 12 ⚠
- p.Arg290His Single submitter ⚠
- p.Arg385Gln Single submitter congenital myasthenic syndrome 12 ⚠
- p.Arg386His Single submitter hereditary ataxia ⚠
- p.Arg403His Single submitter ⚠
- p.Arg514Trp Single submitter congenital myasthenic syndrome 12 ⚠
- p.Arg521Cys Single submitter congenital myasthenic syndrome 12 ⚠
- p.Arg563Gly Single submitter congenital myasthenic syndrome 12 ⚠
- p.Arg613Gly Single submitter congenital myasthenic syndrome 12
- p.Arg633Gln Single submitter congenital myasthenic syndrome 12 ⚠
- p.Arg95Cys Single submitter congenital myasthenic syndrome 12 ⚠
- p.Asn123Ser Single submitter congenital myasthenic syndrome 12 ⚠
- p.Asp167Glu Single submitter ⚠
- p.Asp304Ala Single submitter congenital myasthenic syndrome 12 ⚠
- p.Asp366Asn Single submitter ⚠
- p.Asp36Gly Single submitter congenital myasthenic syndrome 12 ⚠
- p.Asp477= Single submitter congenital myasthenic syndrome 12
- p.Asp49Tyr Single submitter congenital myasthenic syndrome 12 ⚠
- p.Asp512Asn Single submitter congenital myasthenic syndrome 12 ⚠
- p.Asp542Tyr Single submitter congenital myasthenic syndrome 12 ⚠
- p.Asp642Val Single submitter congenital myasthenic syndrome 12 ⚠
- p.Asp78Asn Single submitter congenital myasthenic syndrome 12 ⚠
- p.Asp78Gly Single submitter Inborn genetic diseases ⚠
- p.Asp80Gly Single submitter congenital myasthenic syndrome 12 ⚠
- p.Cys2Trp Single submitter congenital myasthenic syndrome 12 ⚠
- p.Cys454del Single submitter congenital myasthenic syndrome 12
- p.Gln180Leu Single submitter congenital myasthenic syndrome 12 ⚠
- p.Gln197Arg Single submitter congenital myasthenic syndrome 12 ⚠
- p.Gln197Glu Single submitter congenital myasthenic syndrome 12 ⚠
- p.Gln333Arg Single submitter congenital myasthenic syndrome 12 ⚠
- p.Gln77Glu Single submitter ⚠
- p.Glu164Gly Single submitter congenital myasthenic syndrome 12 ⚠
- p.Glu269Gly Single submitter congenital myasthenic syndrome 12 ⚠
- p.Glu295Lys Single submitter congenital myasthenic syndrome 12 ⚠
- p.Glu31Asp Single submitter congenital myasthenic syndrome 12 ⚠
- p.Glu51Lys Single submitter Inborn genetic diseases ⚠
- p.Glu592Asp Single submitter Inborn genetic diseases ⚠
- p.Glu641Gly Single submitter congenital myasthenic syndrome 12 ⚠
- p.Gly183Ser Single submitter congenital myasthenic syndrome 12 ⚠
- p.Gly196Glu Single submitter congenital myasthenic syndrome 12 ⚠
- p.Gly196Trp Single submitter Inborn genetic diseases ⚠
- p.Gly321Arg Single submitter ⚠
- p.Gly360Glu Single submitter congenital myasthenic syndrome 12 ⚠
- p.Gly393Ala Single submitter congenital myasthenic syndrome 12 ⚠
- p.Gly39Asp Single submitter congenital myasthenic syndrome 12 ⚠
- p.Gly39Ser Single submitter congenital myasthenic syndrome 12 ⚠
- p.Gly45_Glu51dup Single submitter congenital myasthenic syndrome 12
- p.Gly45Asp Single submitter congenital myasthenic syndrome 12 ⚠
- p.Gly45Ser Single submitter congenital myasthenic syndrome 12 ⚠
- p.Gly562Glu Single submitter congenital myasthenic syndrome 12 ⚠
- p.His215Arg Single submitter congenital myasthenic syndrome 12 ⚠
- p.His310Leu Single submitter congenital myasthenic syndrome 12 ⚠
- p.His657Arg Single submitter congenital myasthenic syndrome 12 ⚠
- p.His74Gln Single submitter congenital myasthenic syndrome 12 ⚠
- p.His74Pro Single submitter congenital myasthenic syndrome 12
- p.Ile121Thr Single submitter congenital myasthenic syndrome 12 ⚠
- p.Ile126Phe Single submitter congenital myasthenic syndrome 12 ⚠
- p.Ile152Thr Single submitter Inborn genetic diseases ⚠
- p.Ile178Val Single submitter Inborn genetic diseases ⚠
- p.Ile19Val Single submitter congenital myasthenic syndrome 12 ⚠
- p.Ile224Val Single submitter congenital myasthenic syndrome 12 ⚠
- p.Ile233Val Single submitter congenital myasthenic syndrome 12 ⚠
- p.Ile312Ser Single submitter Inborn genetic diseases ⚠
- p.Ile472Met Single submitter congenital myasthenic syndrome 12
- p.Ile646Val Single submitter congenital myasthenic syndrome 12 ⚠
- p.Ile669Phe Single submitter congenital myasthenic syndrome 12 ⚠
- p.Ile83Val Single submitter congenital myasthenic syndrome 12 ⚠
- p.Leu132Phe Single submitter congenital myasthenic syndrome 12 ⚠
- p.Leu181Met Single submitter congenital myasthenic syndrome 12
- p.Leu217Val Single submitter congenital myasthenic syndrome 12 ⚠
- p.Leu387Val Single submitter Inborn genetic diseases
- p.Leu409Met Single submitter Inborn genetic diseases ⚠
- p.Leu59Phe Single submitter congenital myasthenic syndrome 12
- p.Leu624Phe Single submitter Inborn genetic diseases ⚠
- p.Leu666Pro Single submitter congenital myasthenic syndrome 12 ⚠
- p.Lys154Arg Single submitter congenital myasthenic syndrome 12 ⚠
- p.Lys313Arg Single submitter congenital myasthenic syndrome 12 ⚠
- p.Lys455Glu Single submitter congenital myasthenic syndrome 12
- p.Lys494Asn Single submitter ⚠
- p.Lys640Arg Single submitter congenital myasthenic syndrome 12 ⚠
- p.Met159Thr Single submitter
- p.Met335Leu Single submitter congenital myasthenic syndrome 12 ⚠
- p.Met358Arg Single submitter Inborn genetic diseases ⚠
- p.Met358Ile Single submitter congenital myasthenic syndrome 12 ⚠
- p.Met415Val Single submitter congenital myasthenic syndrome 12 ⚠
- p.Met449Leu Single submitter congenital myasthenic syndrome 12 ⚠
- p.Phe135Val Single submitter congenital myasthenic syndrome 12 ⚠
- p.Phe237Val Single submitter congenital myasthenic syndrome 12 ⚠
- p.Phe422Leu Single submitter Inborn genetic diseases ⚠
- p.Phe42Val Single submitter congenital myasthenic syndrome 12 ⚠
- p.Phe437Ile Single submitter congenital myasthenic syndrome 12 ⚠
- p.Phe5Tyr Single submitter ⚠
- p.Pro102Arg Single submitter congenital myasthenic syndrome 12 ⚠
- p.Pro102His Single submitter congenital myasthenic syndrome 12 ⚠
- p.Pro13Ser Single submitter Inborn genetic diseases ⚠
- p.Pro689Leu Single submitter Inborn genetic diseases ⚠
- p.Ser138Cys Single submitter congenital myasthenic syndrome 12 ⚠
- p.Ser169Gly Single submitter congenital myasthenic syndrome 12 ⚠
- p.Ser191Asn Single submitter ⚠
- p.Ser218Pro Single submitter congenital myasthenic syndrome 12 ⚠
- p.Ser395Gly Single submitter congenital myasthenic syndrome 12 ⚠
- p.Ser471Phe Single submitter congenital myasthenic syndrome 12 ⚠
- p.Ser498= Single submitter congenital myasthenic syndrome 12
- p.Ser516Phe Single submitter congenital myasthenic syndrome 12 ⚠
- p.Thr219Ala Single submitter congenital myasthenic syndrome 12 ⚠
- p.Thr427Ser Single submitter
- p.Thr447Ala Single submitter congenital myasthenic syndrome 12 ⚠
- p.Thr569Pro Single submitter congenital myasthenic syndrome 12 ⚠
- p.Thr652Arg Single submitter congenital myasthenic syndrome 12 ⚠
- p.Thr652Met Single submitter congenital myasthenic syndrome 12 ⚠
- p.Trp240Leu Single submitter congenital myasthenic syndrome 12 ⚠
- p.Tyr10Cys Single submitter congenital myasthenic syndrome 12 ⚠
- p.Tyr396Phe Single submitter congenital myasthenic syndrome 12 ⚠
- p.Tyr684Cys Single submitter ⚠
- p.Val105Leu Single submitter congenital myasthenic syndrome 12 ⚠
- p.Val120Ile Single submitter Inborn genetic diseases ⚠
- p.Val211Glu Single submitter congenital myasthenic syndrome 12 ⚠
- p.Val268Ala Single submitter Inborn genetic diseases ⚠
- p.Val369Met Single submitter congenital myasthenic syndrome 12 ⚠
- p.Val40Leu Single submitter congenital myasthenic syndrome 12 ⚠
- p.Val501Ile Single submitter congenital myasthenic syndrome 12 ⚠