ALG14 — 163 ClinVar variants
All ClinVar germline ALG14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
1 Pathogenic · 6 Conflicting · 5 Benign · 2 Benign/Likely benign · 61 Likely benign · 88 Uncertain significance
Full ALG14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ALG14 p.Asp74Asn
Conflicting
Single submitter
myopathy, epilepsy, and progressive cerebral atrophy
-
ALG14 p.Val6Ile
Conflicting
Single submitter
intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
Predictors lean, ClinVar uncertain 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ALG14 p.Ala13Ser
Uncertain significance
Multiple submitters
myopathy, epilepsy, and progressive cerebral atrophy
-
ALG14 p.Arg109Gln
Uncertain significance
Multiple submitters
myopathy, epilepsy, and progressive cerebral atrophy
-
ALG14 p.Arg109Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG14 p.Asn61Asp
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 15
-
ALG14 p.Asn61Ser
Uncertain significance
Multiple submitters
intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
-
ALG14 p.Asn82Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG14 p.Glu179Lys
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 15
-
ALG14 p.Gly47Val
Uncertain significance
Multiple submitters
myopathy, epilepsy, and progressive cerebral atrophy
-
ALG14 p.Ile175Asn
Uncertain significance
Multiple submitters
myopathy, epilepsy, and progressive cerebral atrophy
-
ALG14 p.Leu159Pro
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 15
-
ALG14 p.Leu37Phe
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 15
-
ALG14 p.Ser108Asn
Uncertain significance
Multiple submitters
intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
-
ALG14 p.Ser155Phe
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 15
-
ALG14 p.Val141Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG14 p.Val178Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG14 p.Ala13Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Ala43Pro
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Arg177Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG14 p.Arg177Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Arg214Gln
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
- ALG14 p.Asp74Glu Uncertain significance Single submitter
-
ALG14 p.Gly160Arg
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.His134Gln
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Ile168Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Ile187Thr
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Ile22Met
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
- ALG14 p.Met126Thr Uncertain significance Single submitter
-
ALG14 p.Met29Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG14 p.Met29Thr
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Met96Ile
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Met96Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG14 p.Pro131His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG14 p.Pro151Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Ser184Cys
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Ser28Pro
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Ser38Asn
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
- ALG14 p.Ser45Pro Uncertain significance Single submitter
-
ALG14 p.Ser64Pro
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Ser94Gly
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Tyr68Cys
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Val111Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG14 p.Val141Met
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Val150Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG14 p.Ile102Asn
Uncertain significance
No assertion criteria
ALG14-related disorder
-
ALG14 p.Ile52Asn
Uncertain significance
No assertion criteria
ALG14-related disorder
Predictors split 37
The independent predictors disagree with each other — read with care.
-
ALG14 p.Ala11Thr
Benign/Likely benign
Multiple submitters
myopathy, epilepsy, and progressive cerebral atrophy
-
ALG14 p.Arg104Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG14 p.Arg88Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG14 p.Glu110Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG14 p.His190Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG14 p.Pro200Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG14 p.Pro33Leu
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 15
-
ALG14 p.Ser209Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG14 p.Ser60Cys
Uncertain significance
Multiple submitters
myopathy, epilepsy, and progressive cerebral atrophy
-
ALG14 p.Ser83Tyr
Uncertain significance
Multiple submitters
congenital myasthenic syndrome 15
-
ALG14 p.Val136Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG14 p.Val178Ile
Uncertain significance
Multiple submitters
myopathy, epilepsy, and progressive cerebral atrophy
-
ALG14 p.Asp193His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG14 p.Gln113Glu
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.His124Pro
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.His134Pro
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
- ALG14 p.His67Arg Uncertain significance Single submitter
-
ALG14 p.His67Tyr
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Ile105Val
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Ile133Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG14 p.Ile161Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG14 p.Ile70Met
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Leu55Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG14 p.Leu7Pro
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Met183Ile
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Met183Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG14 p.Phe130Tyr
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Pro200Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG14 p.Pro207Ser
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Pro33Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG14 p.Pro93Ala
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Ser28Tyr
Conflicting
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Ser38Ile
Conflicting
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Ser64Leu
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Thr180Met
Uncertain significance
Single submitter
congenital myasthenic syndrome 15
-
ALG14 p.Val14Met
Likely benign
Single submitter
congenital myasthenic syndrome 15
- ALG14 p.Val172Ile Uncertain significance Single submitter
All ALG14 variants
Pathogenic 1
- p.Pro65Leu No assertion criteria congenital myasthenic syndrome 15
Conflicting classifications of pathogenicity 6
- c.420+6_420+9del Single submitter congenital myasthenic syndrome 15
- p.Arg104Ter Single submitter myopathy, epilepsy, and progressive cerebral atrophy
- p.Asp74Asn Single submitter myopathy, epilepsy, and progressive cerebral atrophy ⚠
- p.Ser28Tyr Single submitter congenital myasthenic syndrome 15 ⚠
- p.Ser38Ile Single submitter congenital myasthenic syndrome 15 ⚠
- p.Val6Ile Single submitter intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies ⚠
Benign 5
- c.137-136C>T Multiple submitters
- c.137-18T>A Multiple submitters myopathy, epilepsy, and progressive cerebral atrophy
- c.421-171A>G Multiple submitters
- p.Tyr97= Multiple submitters congenital myasthenic syndrome 15
- p.Gly57= Single submitter congenital myasthenic syndrome 15
Benign/Likely benign 2
- c.288+11A>G Multiple submitters intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
- p.Ala11Thr Multiple submitters myopathy, epilepsy, and progressive cerebral atrophy ⚠
Likely benign 61
- c.137-97C>T Multiple submitters
- p.Lys203= Multiple submitters congenital myasthenic syndrome 15
- p.Ser182= Multiple submitters congenital myasthenic syndrome 15
- p.Ser184= Multiple submitters congenital myasthenic syndrome 15
- c.136+105C>G Single submitter
- c.136+10G>A Single submitter congenital myasthenic syndrome 15
- c.136+10G>C Single submitter congenital myasthenic syndrome 15
- c.136+17C>A Single submitter congenital myasthenic syndrome 15
- c.136+18G>T Single submitter congenital myasthenic syndrome 15
- c.137-15T>C Single submitter congenital myasthenic syndrome 15
- c.137-8T>C Single submitter congenital myasthenic syndrome 15
- c.288+15C>G Single submitter congenital myasthenic syndrome 15
- c.288+18_288+23del Single submitter congenital myasthenic syndrome 15
- c.288+9C>T Single submitter congenital myasthenic syndrome 15
- c.289-4C>T Single submitter congenital myasthenic syndrome 15
- c.420+14T>C Single submitter congenital myasthenic syndrome 15
- c.420+15C>G Single submitter congenital myasthenic syndrome 15
- c.420+16A>G Single submitter congenital myasthenic syndrome 15
- c.420+17C>T Single submitter congenital myasthenic syndrome 15
- c.420+19A>G Single submitter congenital myasthenic syndrome 15
- c.420+213G>A Single submitter
- c.421-11T>G Single submitter congenital myasthenic syndrome 15
- c.421-19del Single submitter congenital myasthenic syndrome 15
- c.421-6T>C Single submitter congenital myasthenic syndrome 15
- c.-6C>G Single submitter
- p.Ala10= Single submitter congenital myasthenic syndrome 15
- p.Ala78= Single submitter congenital myasthenic syndrome 15
- p.Ala8= Single submitter congenital myasthenic syndrome 15
- p.Arg177= Single submitter congenital myasthenic syndrome 15
- p.Arg88= Single submitter congenital myasthenic syndrome 15
- p.Asn144= Single submitter congenital myasthenic syndrome 15
- p.Asn79His Single submitter Inborn genetic diseases
- p.Asp193= Single submitter congenital myasthenic syndrome 15
- p.Cys149= Single submitter congenital myasthenic syndrome 15
- p.Cys3= Single submitter congenital myasthenic syndrome 15
- p.Gln112Arg Single submitter Inborn genetic diseases
- p.Gly12= Single submitter congenital myasthenic syndrome 15
- p.Gly44= Single submitter congenital myasthenic syndrome 15
- p.Gly46= Single submitter congenital myasthenic syndrome 15
- p.Leu132= Single submitter congenital myasthenic syndrome 15
- p.Leu158= Single submitter congenital myasthenic syndrome 15
- p.Leu20= Single submitter congenital myasthenic syndrome 15
- p.Leu37= Single submitter congenital myasthenic syndrome 15
- p.Leu55= Single submitter congenital myasthenic syndrome 15
- p.Leu7= Single submitter congenital myasthenic syndrome 15
- p.Pro131= Single submitter congenital myasthenic syndrome 15
- p.Pro146= Single submitter congenital myasthenic syndrome 15
- p.Pro151= Single submitter congenital myasthenic syndrome 15
- p.Pro200= Single submitter congenital myasthenic syndrome 15
- p.Pro207= Single submitter congenital myasthenic syndrome 15
- p.Thr118= Single submitter congenital myasthenic syndrome 15
- p.Thr180= Single submitter congenital myasthenic syndrome 15
- p.Tyr171= Single submitter congenital myasthenic syndrome 15
- p.Tyr211= Single submitter congenital myasthenic syndrome 15
- p.Val14= Single submitter congenital myasthenic syndrome 15
- p.Val141= Single submitter congenital myasthenic syndrome 15
- p.Val14Met Single submitter congenital myasthenic syndrome 15 ⚠
- p.Val2= Single submitter congenital myasthenic syndrome 15
- p.Val210= Single submitter congenital myasthenic syndrome 15
- p.Val69= Single submitter congenital myasthenic syndrome 15
- c.289-8631T>C No assertion criteria ALG14-related disorder
Uncertain significance 88
- c.288+4A>G Multiple submitters congenital myasthenic syndrome 15
- p.Ala13Ser Multiple submitters myopathy, epilepsy, and progressive cerebral atrophy ⚠
- p.Arg104Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg109Gln Multiple submitters myopathy, epilepsy, and progressive cerebral atrophy ⚠
- p.Arg109Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg88Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn61Asp Multiple submitters congenital myasthenic syndrome 15 ⚠
- p.Asn61Ser Multiple submitters intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies ⚠
- p.Asn82Ser Multiple submitters Inborn genetic diseases ⚠
- p.Glu110Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu179Lys Multiple submitters congenital myasthenic syndrome 15 ⚠
- p.Gly47Val Multiple submitters myopathy, epilepsy, and progressive cerebral atrophy ⚠
- p.His190Gln Multiple submitters Inborn genetic diseases ⚠
- p.Ile175Asn Multiple submitters myopathy, epilepsy, and progressive cerebral atrophy ⚠
- p.Leu159Pro Multiple submitters congenital myasthenic syndrome 15 ⚠
- p.Leu37Phe Multiple submitters congenital myasthenic syndrome 15 ⚠
- p.Pro200Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro33Leu Multiple submitters congenital myasthenic syndrome 15 ⚠
- p.Ser108Asn Multiple submitters intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies ⚠
- p.Ser155Phe Multiple submitters congenital myasthenic syndrome 15 ⚠
- p.Ser209Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser60Cys Multiple submitters myopathy, epilepsy, and progressive cerebral atrophy ⚠
- p.Ser83Tyr Multiple submitters congenital myasthenic syndrome 15 ⚠
- p.Val136Met Multiple submitters Inborn genetic diseases ⚠
- p.Val141Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val178Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val178Ile Multiple submitters myopathy, epilepsy, and progressive cerebral atrophy ⚠
- c.136+2T>C Single submitter congenital myasthenic syndrome 15
- c.289-2A>G Single submitter congenital myasthenic syndrome 15
- c.420+1G>A Single submitter congenital myasthenic syndrome 15
- c.420+5G>A Single submitter congenital myasthenic syndrome 15
- p.Ala13Val Single submitter congenital myasthenic syndrome 15 ⚠
- p.Ala43Pro Single submitter congenital myasthenic syndrome 15 ⚠
- p.Arg177Leu Single submitter Inborn genetic diseases ⚠
- p.Arg177Ser Single submitter congenital myasthenic syndrome 15 ⚠
- p.Arg214Gln Single submitter congenital myasthenic syndrome 15 ⚠
- p.Arg34fs Single submitter
- p.Asp193His Single submitter Inborn genetic diseases ⚠
- p.Asp74Glu Single submitter ⚠
- p.Gln113Glu Single submitter congenital myasthenic syndrome 15 ⚠
- p.Glu173Ter Single submitter congenital myasthenic syndrome 15
- p.Gly160Arg Single submitter congenital myasthenic syndrome 15 ⚠
- p.His124Pro Single submitter congenital myasthenic syndrome 15 ⚠
- p.His134Gln Single submitter congenital myasthenic syndrome 15 ⚠
- p.His134Pro Single submitter congenital myasthenic syndrome 15 ⚠
- p.His67Arg Single submitter ⚠
- p.His67Tyr Single submitter congenital myasthenic syndrome 15 ⚠
- p.Ile105Val Single submitter congenital myasthenic syndrome 15 ⚠
- p.Ile133Phe Single submitter Inborn genetic diseases ⚠
- p.Ile161Thr Single submitter Inborn genetic diseases ⚠
- p.Ile168Ser Single submitter congenital myasthenic syndrome 15 ⚠
- p.Ile187Thr Single submitter congenital myasthenic syndrome 15 ⚠
- p.Ile22Met Single submitter congenital myasthenic syndrome 15 ⚠
- p.Ile70Met Single submitter congenital myasthenic syndrome 15 ⚠
- p.Leu142fs Single submitter
- p.Leu159_Gly160insLeu Single submitter
- p.Leu55Val Single submitter Inborn genetic diseases ⚠
- p.Leu7Pro Single submitter congenital myasthenic syndrome 15 ⚠
- p.Met126Thr Single submitter ⚠
- p.Met183Ile Single submitter congenital myasthenic syndrome 15 ⚠
- p.Met183Thr Single submitter Inborn genetic diseases ⚠
- p.Met29Ile Single submitter Inborn genetic diseases ⚠
- p.Met29Thr Single submitter congenital myasthenic syndrome 15 ⚠
- p.Met96Ile Single submitter congenital myasthenic syndrome 15 ⚠
- p.Met96Thr Single submitter Inborn genetic diseases ⚠
- p.Phe130Tyr Single submitter congenital myasthenic syndrome 15 ⚠
- p.Pro131His Single submitter Inborn genetic diseases ⚠
- p.Pro151Ser Single submitter congenital myasthenic syndrome 15 ⚠
- p.Pro200Gln Single submitter Inborn genetic diseases ⚠
- p.Pro207Ser Single submitter congenital myasthenic syndrome 15 ⚠
- p.Pro33Ser Single submitter Inborn genetic diseases ⚠
- p.Pro93Ala Single submitter congenital myasthenic syndrome 15 ⚠
- p.Ser184Cys Single submitter congenital myasthenic syndrome 15 ⚠
- p.Ser28Pro Single submitter congenital myasthenic syndrome 15 ⚠
- p.Ser38Asn Single submitter congenital myasthenic syndrome 15 ⚠
- p.Ser45Pro Single submitter ⚠
- p.Ser64Leu Single submitter congenital myasthenic syndrome 15 ⚠
- p.Ser64Pro Single submitter congenital myasthenic syndrome 15 ⚠
- p.Ser94Gly Single submitter congenital myasthenic syndrome 15 ⚠
- p.Thr180Met Single submitter congenital myasthenic syndrome 15 ⚠
- p.Trp115del Single submitter congenital myasthenic syndrome 15
- p.Tyr68Cys Single submitter congenital myasthenic syndrome 15 ⚠
- p.Val111Ala Single submitter Inborn genetic diseases ⚠
- p.Val141Met Single submitter congenital myasthenic syndrome 15 ⚠
- p.Val150Ile Single submitter Inborn genetic diseases ⚠
- p.Val172Ile Single submitter ⚠
- p.Ile102Asn No assertion criteria ALG14-related disorder ⚠
- p.Ile52Asn No assertion criteria ALG14-related disorder ⚠