SNAP25 — 255 ClinVar variants
All ClinVar germline SNAP25 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
1 Pathogenic · 5 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 10 Conflicting · 23 Benign · 2 Benign/Likely benign · 108 Likely benign · 87 Uncertain significance
Full SNAP25 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SNAP25 p.Arg30His
Conflicting
Single submitter
Inborn genetic diseases
-
SNAP25 p.Asp172Asn
Conflicting
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Gln66Pro
Conflicting
Single submitter
developmental and epileptic encephalopathy
-
SNAP25 p.Ile192Thr
Conflicting
Single submitter
developmental and epileptic encephalopathy
-
SNAP25 p.Met163Arg
Conflicting
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Ser25Leu
Conflicting
Single submitter
congenital myasthenic syndrome 18
Predicted LoF vs a conflicting call 2
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
SNAP25 p.Gln174Ter
Conflicting
Single submitter
developmental and epileptic encephalopathy
-
SNAP25 p.Lys201Ter
Conflicting
Single submitter
developmental and epileptic encephalopathy
Predictors lean, ClinVar uncertain 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SNAP25 p.Ala2Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNAP25 p.Arg135His
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy
-
SNAP25 p.Arg31His
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy
-
SNAP25 p.Gly86Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNAP25 p.Ile157Val
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 18
-
SNAP25 p.Thr190Ile
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 18
-
SNAP25 p.Ala164Asp
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Arg135Cys
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Arg142Gln
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Arg16Gln
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Arg176His
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Arg198Cys
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Arg30Cys
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Arg59Pro
Uncertain significance
Single submitter
developmental and epileptic encephalopathy
- SNAP25 p.Arg8Cys Uncertain significance Single submitter
- SNAP25 p.Asn175Asp Uncertain significance Single submitter
-
SNAP25 p.Asn9His
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Asp19Glu
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Asp4Glu
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
- SNAP25 p.Gln109His Uncertain significance Single submitter
-
SNAP25 p.Gln126Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
- SNAP25 p.Gln197Glu Uncertain significance Single submitter
-
SNAP25 p.Glu3Lys
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Gly155Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Gly168Asp
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Gly168Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Gly43Cys
Uncertain significance
Single submitter
SNAP25-related developmental delays and epileptic encephalopathies
-
SNAP25 p.Ile171Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Leu35Met
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Lys94Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Lys94Met
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Met146Lys
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
- SNAP25 p.Met163Thr Uncertain significance Single submitter
-
SNAP25 p.Met163Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Ser205Asn
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Thr190Ala
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Thr46Pro
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Val120Ile
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
- SNAP25 p.Val153Met Uncertain significance Single submitter
- SNAP25 p.Asp179His Uncertain significance No assertion criteria
Predictors split 19
The independent predictors disagree with each other — read with care.
-
SNAP25 p.Ala74Thr
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 18
-
SNAP25 p.Arg8His
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 18
-
SNAP25 p.Gln197His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNAP25 p.Lys40Glu
Likely pathogenic
Multiple submitters
Global developmental delay
-
SNAP25 p.Met71Thr
Pathogenic/Likely pathogenic
Multiple submitters
SNAP25-related disorder
-
SNAP25 p.Ala199Thr
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Ala199Val
Conflicting
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Arg119His
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Arg124Gln
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Arg161His
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Arg8Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Asp23Glu
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Asp4Gly
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Asp99Val
Conflicting
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Gly111Arg
Likely benign
Single submitter
congenital myasthenic syndrome 18
-
SNAP25 p.Lys189Thr
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
- SNAP25 p.Lys201Glu Uncertain significance Single submitter
-
SNAP25 p.Met14Ile
Uncertain significance
Single submitter
congenital myasthenic syndrome 18
- SNAP25 p.Thr173Ile Uncertain significance Single submitter
All SNAP25 variants
Pathogenic 1
- p.Gln177Ter Single submitter congenital myasthenic syndrome 18
Pathogenic/Likely pathogenic 5
- p.Ala199Glu Multiple submitters developmental and epileptic encephalopathy, 2
- p.Ala199Gly Multiple submitters Severe intellectual disability
- p.Gly43Arg Multiple submitters SNAP25-related disorder
- p.Ile67Asn Multiple submitters Inborn genetic diseases
- p.Met71Thr Multiple submitters SNAP25-related disorder ⚠
Likely pathogenic 19
- p.Arg198Pro Multiple submitters developmental and epileptic encephalopathy
- p.Gln197Ter Multiple submitters neurodevelopmental disorder
- p.Lys40Glu Multiple submitters Global developmental delay ⚠
- p.Val48Phe Multiple submitters epilepsy with generalized tonic-clonic seizures
- c.114_114+6del Single submitter Inborn genetic diseases
- c.114+1G>A Single submitter
- c.114+2T>G Single submitter developmental and epileptic encephalopathy
- c.164-252del Single submitter presynaptic congenital myasthenic syndrome
- c.72+1G>A Single submitter developmental and epileptic encephalopathy
- p.Ala185Pro Single submitter congenital myasthenic syndrome 18
- p.Arg176_Gln177insGluIleAspThrGlnAsnArg Single submitter congenital myasthenic syndrome 18
- p.Asp166Gly Single submitter developmental and epileptic encephalopathy
- p.Asp166Tyr Single submitter developmental and epileptic encephalopathy
- p.Gln174Pro Single submitter developmental and epileptic encephalopathy
- p.Ile181Asn Single submitter congenital myasthenic syndrome 18
- p.Leu50Ser Single submitter developmental and epileptic encephalopathy
- p.Leu57Arg Single submitter developmental and epileptic encephalopathy
- p.Leu57Pro Single submitter congenital myasthenic syndrome 18
- p.Lys184del Single submitter congenital myasthenic syndrome 18
Conflicting classifications of pathogenicity 10
- p.Ala199Val Single submitter congenital myasthenic syndrome 18 ⚠
- p.Arg30His Single submitter Inborn genetic diseases ⚠
- p.Asp172Asn Single submitter congenital myasthenic syndrome 18 ⚠
- p.Asp99Val Single submitter congenital myasthenic syndrome 18 ⚠
- p.Gln174Ter Single submitter developmental and epileptic encephalopathy ⚠
- p.Gln66Pro Single submitter developmental and epileptic encephalopathy ⚠
- p.Ile192Thr Single submitter developmental and epileptic encephalopathy ⚠
- p.Lys201Ter Single submitter developmental and epileptic encephalopathy ⚠
- p.Met163Arg Single submitter congenital myasthenic syndrome 18 ⚠
- p.Ser25Leu Single submitter congenital myasthenic syndrome 18 ⚠
Benign 23
- c.114+153A>G Multiple submitters
- c.114+280C>A Multiple submitters
- c.114+310A>T Multiple submitters
- c.115-192A>T Multiple submitters
- c.282-121A>C Multiple submitters
- c.408-119G>A Multiple submitters
- c.552+23G>A Multiple submitters congenital myasthenic syndrome 18
- c.553-4C>T Multiple submitters Inborn genetic diseases
- c.72+41G>T Multiple submitters
- c.*239G>T Multiple submitters congenital myasthenic syndrome 18
- c.*243T>C Multiple submitters
- p.Asp110= Multiple submitters congenital myasthenic syndrome 18
- c.115-15A>G Single submitter congenital myasthenic syndrome 18
- c.163+282del Single submitter
- c.408-160del Single submitter
- c.408-160dup Single submitter
- c.408-305C>T Single submitter
- c.408-320G>C Single submitter
- c.73-10dup Single submitter congenital myasthenic syndrome 18
- c.-63-21820G>A Single submitter congenital myasthenic syndrome 18
- c.-64+25125G>A Single submitter
- p.Asn9Ser Single submitter congenital myasthenic syndrome 18
- p.Ser98Gly Single submitter congenital myasthenic syndrome 18
Benign/Likely benign 2
- c.281+16C>T Multiple submitters congenital myasthenic syndrome 18
- p.Ala5Thr Multiple submitters congenital myasthenic syndrome 18
Likely benign 108
- c.114+18T>C Multiple submitters congenital myasthenic syndrome 18
- c.115-20C>G Multiple submitters congenital myasthenic syndrome 18
- c.163+177T>G Multiple submitters
- c.164-263C>T Multiple submitters Inborn genetic diseases
- c.282-11C>G Multiple submitters congenital myasthenic syndrome 18
- c.552+8C>T Multiple submitters congenital myasthenic syndrome 18
- c.552+9G>A Multiple submitters congenital myasthenic syndrome 18
- c.72+110G>A Multiple submitters
- c.-34C>A Multiple submitters
- c.-9A>G Multiple submitters
- c.*271C>T Multiple submitters
- p.Ala2= Multiple submitters Inborn genetic diseases
- p.Asp122= Multiple submitters Inborn genetic diseases
- p.Gln20= Multiple submitters congenital myasthenic syndrome 18
- p.Gly132Ser Multiple submitters Inborn genetic diseases
- p.Ile157= Multiple submitters congenital myasthenic syndrome 18
- p.Ile178= Multiple submitters Inborn genetic diseases
- p.Ser154= Multiple submitters Inborn genetic diseases
- p.Val121= Multiple submitters congenital myasthenic syndrome 18
- c.114+13A>G Single submitter congenital myasthenic syndrome 18
- c.114+16A>G Single submitter congenital myasthenic syndrome 18
- c.114+7A>G Single submitter congenital myasthenic syndrome 18
- c.114+8G>A Single submitter congenital myasthenic syndrome 18
- c.115-12A>G Single submitter congenital myasthenic syndrome 18
- c.163+12T>C Single submitter congenital myasthenic syndrome 18
- c.163+20G>A Single submitter congenital myasthenic syndrome 18
- c.164-10G>T Single submitter congenital myasthenic syndrome 18
- c.164-257A>C Single submitter Inborn genetic diseases
- c.164-4T>C Single submitter congenital myasthenic syndrome 18
- c.164-510T>C Single submitter
- c.164-8T>A Single submitter congenital myasthenic syndrome 18
- c.281+13T>A Single submitter congenital myasthenic syndrome 18
- c.281+17T>C Single submitter congenital myasthenic syndrome 18
- c.281+18G>C Single submitter congenital myasthenic syndrome 18
- c.282-14T>C Single submitter
- c.282-15C>G Single submitter congenital myasthenic syndrome 18
- c.282-17C>T Single submitter congenital myasthenic syndrome 18
- c.282-20T>A Single submitter congenital myasthenic syndrome 18
- c.282-20T>G Single submitter congenital myasthenic syndrome 18
- c.282-218A>G Single submitter
- c.407+11T>A Single submitter congenital myasthenic syndrome 18
- c.407+11T>C Single submitter congenital myasthenic syndrome 18
- c.407+12G>A Single submitter congenital myasthenic syndrome 18
- c.407+16C>G Single submitter congenital myasthenic syndrome 18
- c.407+18T>C Single submitter congenital myasthenic syndrome 18
- c.407+5_407+19dup Single submitter congenital myasthenic syndrome 18
- c.408-11T>G Single submitter congenital myasthenic syndrome 18
- c.408-14T>C Single submitter congenital myasthenic syndrome 18
- c.408-18T>G Single submitter congenital myasthenic syndrome 18
- c.408-19C>T Single submitter congenital myasthenic syndrome 18
- c.408-8G>A Single submitter congenital myasthenic syndrome 18
- c.408-9G>T Single submitter congenital myasthenic syndrome 18
- c.552+12G>T Single submitter congenital myasthenic syndrome 18
- c.552+280A>T Single submitter
- c.553-12C>T Single submitter congenital myasthenic syndrome 18
- c.553-13C>T Single submitter congenital myasthenic syndrome 18
- c.553-163A>C Single submitter
- c.553-217C>T Single submitter
- c.72+11GA[3] Single submitter congenital myasthenic syndrome 18
- c.72+13G>A Single submitter congenital myasthenic syndrome 18
- c.72+7A>C Single submitter congenital myasthenic syndrome 18
- c.73-12T>C Single submitter congenital myasthenic syndrome 18
- c.73-16del Single submitter congenital myasthenic syndrome 18
- c.73-5C>T Single submitter congenital myasthenic syndrome 18
- c.73-61T>C Single submitter
- c.73-9A>G Single submitter congenital myasthenic syndrome 18
- c.-63-286C>T Single submitter
- c.-6G>A Single submitter
- c.*13G>A Single submitter
- p.Arg135= Single submitter congenital myasthenic syndrome 18
- p.Arg142= Single submitter congenital myasthenic syndrome 18
- p.Arg142Ter Single submitter congenital myasthenic syndrome 18
- p.Arg17= Single submitter congenital myasthenic syndrome 18
- p.Arg176= Single submitter congenital myasthenic syndrome 18
- p.Arg198= Single submitter congenital myasthenic syndrome 18
- p.Arg31= Single submitter congenital myasthenic syndrome 18
- p.Arg8= Single submitter Inborn genetic diseases
- p.Asn9= Single submitter congenital myasthenic syndrome 18
- p.Asp172= Single submitter congenital myasthenic syndrome 18
- p.Asp23= Single submitter congenital myasthenic syndrome 18
- p.Asp4= Single submitter congenital myasthenic syndrome 18
- p.Asp51= Single submitter
- p.Gln126= Single submitter congenital myasthenic syndrome 18
- p.Gln197= Single submitter congenital myasthenic syndrome 18
- p.Gln20_Asp23del Single submitter congenital myasthenic syndrome 18
- p.Glu143Gln Single submitter congenital myasthenic syndrome 18
- p.Glu55= Single submitter congenital myasthenic syndrome 18
- p.Glu61= Single submitter congenital myasthenic syndrome 18
- p.Glu62= Single submitter congenital myasthenic syndrome 18
- p.Gly111= Single submitter congenital myasthenic syndrome 18
- p.Gly111Arg Single submitter congenital myasthenic syndrome 18 ⚠
- p.Gly131= Single submitter congenital myasthenic syndrome 18
- p.Gly158Arg Single submitter congenital myasthenic syndrome 18
- p.Gly43= Single submitter congenital myasthenic syndrome 18
- p.Gly63= Single submitter congenital myasthenic syndrome 18
- p.Ile171= Single submitter congenital myasthenic syndrome 18
- p.Ile60= Single submitter congenital myasthenic syndrome 18
- p.Leu165= Single submitter congenital myasthenic syndrome 18
- p.Leu21= Single submitter congenital myasthenic syndrome 18
- p.Leu35= Single submitter congenital myasthenic syndrome 18
- p.Leu47= Single submitter congenital myasthenic syndrome 18
- p.Leu50= Single submitter congenital myasthenic syndrome 18
- p.Pro117= Single submitter congenital myasthenic syndrome 18
- p.Ser115= Single submitter congenital myasthenic syndrome 18
- p.Ser25= Single submitter congenital myasthenic syndrome 18
- p.Ser28= Single submitter congenital myasthenic syndrome 18
- p.Thr79= Single submitter
- c.72+10G>A No assertion criteria SNAP25-related disorder
Uncertain significance 87
- p.Ala2Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala74Thr Multiple submitters congenital myasthenic syndrome 18 ⚠
- p.Arg135His Multiple submitters developmental and epileptic encephalopathy ⚠
- p.Arg176Cys Multiple submitters
- p.Arg31His Multiple submitters developmental and epileptic encephalopathy ⚠
- p.Arg8His Multiple submitters congenital myasthenic syndrome 18 ⚠
- p.Gln197His Multiple submitters Inborn genetic diseases ⚠
- p.Gly86Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile157Val Multiple submitters congenital myasthenic syndrome 18 ⚠
- p.Thr190Ile Multiple submitters congenital myasthenic syndrome 18 ⚠
- c.114_114+1delinsTT Single submitter
- c.114+2T>C Single submitter
- c.114+3A>C Single submitter congenital myasthenic syndrome 18
- c.115-1G>C Single submitter
- c.115-3dup Single submitter
- c.163+1G>T Single submitter
- c.164-154C>A Single submitter
- c.164-174G>A Single submitter
- c.164-178A>T Single submitter
- c.164-232A>T Single submitter Inborn genetic diseases
- c.164-235G>C Single submitter
- c.164-256G>A Single submitter
- c.164-274C>T Single submitter
- c.164-283C>G Single submitter
- c.164-2A>G Single submitter congenital myasthenic syndrome 18
- c.407+3G>A Single submitter congenital myasthenic syndrome 18
- c.408-3C>T Single submitter congenital myasthenic syndrome 18
- c.552+4A>G Single submitter congenital myasthenic syndrome 18
- c.552+6C>T Single submitter congenital myasthenic syndrome 18
- c.-8C>T Single submitter
- c.*1G>C Single submitter Inborn genetic diseases
- p.Ala164Asp Single submitter congenital myasthenic syndrome 18 ⚠
- p.Ala199Thr Single submitter congenital myasthenic syndrome 18 ⚠
- p.Arg119His Single submitter congenital myasthenic syndrome 18 ⚠
- p.Arg124Gln Single submitter congenital myasthenic syndrome 18 ⚠
- p.Arg135Cys Single submitter congenital myasthenic syndrome 18 ⚠
- p.Arg142Gln Single submitter congenital myasthenic syndrome 18 ⚠
- p.Arg161His Single submitter congenital myasthenic syndrome 18 ⚠
- p.Arg16Gln Single submitter congenital myasthenic syndrome 18 ⚠
- p.Arg16Ter Single submitter
- p.Arg176His Single submitter congenital myasthenic syndrome 18 ⚠
- p.Arg198Cys Single submitter congenital myasthenic syndrome 18 ⚠
- p.Arg30Cys Single submitter congenital myasthenic syndrome 18 ⚠
- p.Arg59His Single submitter congenital myasthenic syndrome 18
- p.Arg59Pro Single submitter developmental and epileptic encephalopathy ⚠
- p.Arg8Cys Single submitter ⚠
- p.Arg8Ser Single submitter congenital myasthenic syndrome 18 ⚠
- p.Asn175_Gln177del Single submitter SNAP25-related disorder
- p.Asn175Asp Single submitter ⚠
- p.Asn9His Single submitter congenital myasthenic syndrome 18 ⚠
- p.Asp179Asn Single submitter congenital myasthenic syndrome 18
- p.Asp19Glu Single submitter congenital myasthenic syndrome 18 ⚠
- p.Asp23Glu Single submitter congenital myasthenic syndrome 18 ⚠
- p.Asp4Glu Single submitter congenital myasthenic syndrome 18 ⚠
- p.Asp4Gly Single submitter congenital myasthenic syndrome 18 ⚠
- p.Gln109His Single submitter ⚠
- p.Gln126Arg Single submitter congenital myasthenic syndrome 18 ⚠
- p.Gln197Glu Single submitter ⚠
- p.Glu13del Single submitter congenital myasthenic syndrome 18
- p.Glu38Asp Single submitter congenital myasthenic syndrome 18
- p.Glu3Lys Single submitter congenital myasthenic syndrome 18 ⚠
- p.Glu73= Single submitter congenital myasthenic syndrome 18
- p.Gly155fs Single submitter developmental and epileptic encephalopathy
- p.Gly155Ser Single submitter congenital myasthenic syndrome 18 ⚠
- p.Gly168Asp Single submitter congenital myasthenic syndrome 18 ⚠
- p.Gly168Val Single submitter congenital myasthenic syndrome 18 ⚠
- p.Gly43Cys Single submitter SNAP25-related developmental delays and epileptic encephalopathies ⚠
- p.Ile171Val Single submitter congenital myasthenic syndrome 18 ⚠
- p.Leu35Met Single submitter congenital myasthenic syndrome 18 ⚠
- p.Lys189Thr Single submitter congenital myasthenic syndrome 18 ⚠
- p.Lys201Glu Single submitter ⚠
- p.Lys94Arg Single submitter congenital myasthenic syndrome 18 ⚠
- p.Lys94Met Single submitter congenital myasthenic syndrome 18 ⚠
- p.Met146Lys Single submitter congenital myasthenic syndrome 18 ⚠
- p.Met14Ile Single submitter congenital myasthenic syndrome 18 ⚠
- p.Met163Thr Single submitter ⚠
- p.Met163Val Single submitter congenital myasthenic syndrome 18 ⚠
- p.Met64Val Single submitter Inborn genetic diseases
- p.Ser205Asn Single submitter congenital myasthenic syndrome 18 ⚠
- p.Ser25Ter Single submitter congenital myasthenic syndrome 18
- p.Thr173Ile Single submitter ⚠
- p.Thr190Ala Single submitter congenital myasthenic syndrome 18 ⚠
- p.Thr46Pro Single submitter congenital myasthenic syndrome 18 ⚠
- p.Val120Ile Single submitter congenital myasthenic syndrome 18 ⚠
- p.Val153Met Single submitter ⚠
- p.Val48_Met49insIle Single submitter congenital myasthenic syndrome 18
- p.Asp179His No assertion criteria ⚠