UBA1 — 637 ClinVar variants
All ClinVar germline UBA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 260 flagged for review →
1 Likely pathogenic · 23 Conflicting · 55 Benign · 49 Benign/Likely benign · 238 Likely benign · 271 Uncertain significance
Full UBA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 260
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
UBA1 p.Ala478Ser
Conflicting
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg174Gln
Conflicting
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg350His
Conflicting
Single submitter
Inborn genetic diseases
-
UBA1 p.Arg81Gln
Conflicting
Single submitter
Inborn genetic diseases
-
UBA1 p.Asn758Ser
Conflicting
Single submitter
Inborn genetic diseases
-
UBA1 p.Asp506Asn
Conflicting
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Glu496Lys
Conflicting
Single submitter
Inborn genetic diseases
-
UBA1 p.Ile397Val
Conflicting
Single submitter
Inborn genetic diseases
-
UBA1 p.Leu432Phe
Conflicting
Single submitter
Inborn genetic diseases
-
UBA1 p.Lys443Arg
Conflicting
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ser302Gly
Conflicting
Single submitter
Inborn genetic diseases
-
UBA1 p.Thr789Ala
Conflicting
Single submitter
infantile-onset X-linked spinal muscular atrophy
Predictors lean, ClinVar uncertain 165
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 165
-
UBA1 p.Ala136Ser
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ala391Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Arg288His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Arg450His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Arg693Cys
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg699Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Arg825His
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg917Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Asn228Ser
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Asn351Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Asn757Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Asp874Glu
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Gln338Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Gln538Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Glu129Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Glu380Lys
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Gly245Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Gly261Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Gly777Arg
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile123Val
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile287Val
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile383Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Leu186Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Leu655Ile
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Lys268Asn
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Phe116Cys
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Phe202Leu
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Pro965Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Ser293Asn
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ser620Pro
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ser835Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Thr167Ala
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Tyr117Asp
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Tyr948Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Val253Ile
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Val373Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Val409Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Val687Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Val691Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Val787Met
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Val805Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Ala146Thr
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ala364Thr
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ala372Glu
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ala372Gly
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ala372Thr
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ala372Val
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ala405Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Ala456Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Ala476Val
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.Ala690Gly Uncertain significance Single submitter
-
UBA1 p.Ala895Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Ala942Thr
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg1025Gln
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.Arg1029Cys Uncertain significance Single submitter
-
UBA1 p.Arg1032Gln
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg1058His
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg119Gln
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg11Cys
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg127Leu
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg134His
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Arg182His
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg348Gln
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg348Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Arg348Trp
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg350Cys
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg544Gln
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.Arg551Cys Uncertain significance Single submitter
- UBA1 p.Arg551His Uncertain significance Single submitter
- UBA1 p.Arg558Cys Uncertain significance Single submitter
-
UBA1 p.Arg558His
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg592Gln
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg693His
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg747Cys
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.Arg869Leu Uncertain significance Single submitter
-
UBA1 p.Arg957Cys
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.Asn139His Uncertain significance Single submitter
-
UBA1 p.Asn166Ser
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Asn212Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Asn212Thr
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Asn228Thr
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Asn377Lys
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Asn818Asp
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Asn928Asp
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Asn966Thr
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Asp279Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Asp285Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Asp461Glu
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Asp530Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Asp555Glu
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Asp563Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- UBA1 p.Asp585Glu Uncertain significance Single submitter
-
UBA1 p.Asp669Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Asp874Ala
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Cys200Gly
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Cys588Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Gln338His
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Gln363His
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.Gln692Arg Uncertain significance Single submitter
-
UBA1 p.Gln698His
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Gln918His
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Glu205Lys
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Glu352Lys
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Glu430Gln
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Glu434Ala
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Glu496Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Glu968Asp
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.Gly176Ala Uncertain significance Single submitter
-
UBA1 p.Gly245Glu
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Gly45Ser
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.His337Gln
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.His343Arg Uncertain significance Single submitter
-
UBA1 p.His343Tyr
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile1057Ser
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile331Val
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile401Phe
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile479Leu
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile508Thr
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile543Met
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile641Val
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile847Thr
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile862Val
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile890Met
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Leu885Met
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Lys299Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Lys468Asn
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Lys593Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Lys802Arg
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Met1002Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Met223Ile
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Met223Val
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Met265Val
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Met418Val
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Met996Lys
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Pro168Leu
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Pro19Leu
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Pro264Ala
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.Pro759Arg Uncertain significance Single submitter
-
UBA1 p.Pro876Ala
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ser305Cys
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ser460Pro
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ser547Gly
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ser617Leu
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ser620Cys
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Thr280Ser
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.Thr440Arg Uncertain significance Single submitter
-
UBA1 p.Thr440Pro
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Thr682Ser
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Thr716Ile
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.Thr896Met Uncertain significance Single submitter
Predictors split 82
The independent predictors disagree with each other — read with care.
-
UBA1 p.Arg345Gln
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg544Trp
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg784Gln
Benign/Likely benign
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg944Cys
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Asn366Thr
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Asp563Tyr
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Gly124Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Gly495Arg
Benign/Likely benign
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile559Asn
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Leu568Val
Benign/Likely benign
Multiple submitters
VEXAS syndrome
-
UBA1 p.Lys322Arg
Benign/Likely benign
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Phe247Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Pro150Ser
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ser211Cys
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Thr531Met
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Val1031Met
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Val292Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UBA1 p.Val960Leu
Uncertain significance
Multiple submitters
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ala136Thr
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ala355Val
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ala387Thr
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ala831Val
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.Arg1021Cys Uncertain significance Single submitter
- UBA1 p.Arg1054Gln Likely benign Single submitter
-
UBA1 p.Arg119Trp
Uncertain significance
Single submitter
VEXAS syndrome
-
UBA1 p.Arg134Cys
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg192Gln
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg192Trp
Conflicting
Single submitter
Inborn genetic diseases
-
UBA1 p.Arg239Gln
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg345Trp
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg384Gln
Conflicting
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg384Trp
Conflicting
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg825Cys
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Arg880Gln
Uncertain significance
Single submitter
UBA1-related disorder
-
UBA1 p.Arg944His
Likely benign
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Asn126Ser
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Asn260Ser
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Asn449Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Asn606Ser
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Asp523Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- UBA1 p.Asp650Glu Uncertain significance Single submitter
- UBA1 p.Asp848Asn Uncertain significance Single submitter
-
UBA1 p.Gln254His
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Gln334His
Likely benign
Single submitter
Inborn genetic diseases
-
UBA1 p.Gln914His
Benign
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Glu1043Lys
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Glu626Asp
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Glu642Gln
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Glu651Asp
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Glu798Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Gly1045Ser
Conflicting
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Gly344Val
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Gly415Arg
Conflicting
Single submitter
Inborn genetic diseases
-
UBA1 p.Ile277Val
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile490Thr
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ile543Thr
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Leu1007Phe
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Met220Val
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Met859Val
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.Phe195Leu Uncertain significance Single submitter
-
UBA1 p.Phe339Leu
Likely benign
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Phe857Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Pro1003Leu
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Pro326Leu
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Pro740Leu
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Pro751Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Pro876Ser
Benign
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ser1023Leu
Benign
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ser249Phe
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Ser276Gly
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.Ser281Phe Uncertain significance Single submitter
-
UBA1 p.Ser284Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- UBA1 p.Ser719Leu Uncertain significance Single submitter
-
UBA1 p.Thr167Ile
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Thr318Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
UBA1 p.Thr668Ile
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Tyr388Cys
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Tyr978Cys
Conflicting
Single submitter
infantile-onset X-linked spinal muscular atrophy
-
UBA1 p.Val1031Leu
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.Val1035Met Uncertain significance Single submitter
-
UBA1 p.Val187Leu
Uncertain significance
Single submitter
infantile-onset X-linked spinal muscular atrophy
- UBA1 p.Val232Ile Uncertain significance Single submitter
All UBA1 variants
Likely pathogenic 1
- p.Pro554Ser Single submitter ⚠
Conflicting classifications of pathogenicity 23
- c.2554-6T>C Single submitter Inborn genetic diseases
- c.2647-9_2647-6del Single submitter Inborn genetic diseases
- p.Ala478Ser Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg174Gln Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg192Trp Single submitter Inborn genetic diseases ⚠
- p.Arg350His Single submitter Inborn genetic diseases ⚠
- p.Arg384Gln Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg384Trp Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg81Gln Single submitter Inborn genetic diseases ⚠
- p.Asn577= Single submitter Inborn genetic diseases
- p.Asn758Ser Single submitter Inborn genetic diseases ⚠
- p.Asp506Asn Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asp561= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Glu496Lys Single submitter Inborn genetic diseases ⚠
- p.Gly1045Ser Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Gly415Arg Single submitter Inborn genetic diseases ⚠
- p.Ile397Val Single submitter Inborn genetic diseases ⚠
- p.Leu432Phe Single submitter Inborn genetic diseases ⚠
- p.Lys443Arg Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ser302Gly Single submitter Inborn genetic diseases ⚠
- p.Thr318= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr789Ala Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Tyr978Cys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
Benign 55
- c.1233+43T>G Multiple submitters
- c.1575+51C>T Multiple submitters
- c.1576-161G>A Multiple submitters
- c.1742-11G>C Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.1742-18G>A Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.1742-58C>T Multiple submitters
- c.1938+60G>A Multiple submitters
- c.2004-39C>G Multiple submitters
- c.2465-190T>A Multiple submitters
- c.2838+110C>T Multiple submitters
- c.2839-75A>G Multiple submitters
- c.679-33C>G Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.811+212A>G Multiple submitters
- c.811+9C>G Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Pro740= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Val144Ile Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.1233+20G>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1338+23dup Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1339-9A>G Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1575+67_1575+68dup Single submitter
- c.1575+68dup Single submitter
- c.2003+10T>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2275-17G>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2275-7C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2646+11T>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2646+3G>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2839-13_2839-12del Single submitter infantile-onset X-linked spinal muscular atrophy
- c.3042-10del Single submitter infantile-onset X-linked spinal muscular atrophy
- c.480+271C>G Single submitter
- c.587+20C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.587+21del Single submitter infantile-onset X-linked spinal muscular atrophy
- c.678+18A>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.679-16C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ala399= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ala887= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Arg368Gln Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Arg384= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Arg917Gln Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Asn606= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Asn818Ser Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Cys706= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Gln792= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Gln914His Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Glu908= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Gly495= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.His712Tyr Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ile383= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ile87= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Leu685= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Phe790Leu Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Pro1051= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Pro612= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Pro876Ser Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ser1023Leu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ser820= Single submitter infantile-onset X-linked spinal muscular atrophy
Benign/Likely benign 49
- c.117+9C>T Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.1233+13G>A Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.2003+12G>A Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.2004-12G>A Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.2004-13C>T Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.2646+11T>C Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.2839-7C>T Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.2941-14C>T Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.346-3C>A Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.480+19C>G Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.812-4G>A Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.909+12G>A Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Ala391= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Ala788= Multiple submitters Inborn genetic diseases
- p.Ala817Thr Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Ala941= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Arg447Cys Multiple submitters Inborn genetic diseases
- p.Arg447His Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Arg515= Multiple submitters Inborn genetic diseases
- p.Arg537His Multiple submitters Inborn genetic diseases
- p.Arg784Gln Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asn1041= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Asn366Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asn770His Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Asp379= Multiple submitters Inborn genetic diseases
- p.Asp977Asn Multiple submitters Inborn genetic diseases
- p.Cys494= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Glu266= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Glu597= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Gly495Arg Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Gly993= Multiple submitters Inborn genetic diseases
- p.His240= Multiple submitters Inborn genetic diseases
- p.Ile291= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Leu432= Multiple submitters Inborn genetic diseases
- p.Leu568Val Multiple submitters VEXAS syndrome ⚠
- p.Leu931= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Leu976= Multiple submitters Inborn genetic diseases
- p.Lys322Arg Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Phe565= Multiple submitters Inborn genetic diseases
- p.Pro168Ser Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Pro216= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Ser414= Multiple submitters Inborn genetic diseases
- p.Thr148Ala Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Thr971= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Tyr117= Multiple submitters Inborn genetic diseases
- p.Tyr776= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Val130Leu Multiple submitters Inborn genetic diseases
- p.Val152Ile Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Val994= Multiple submitters infantile-onset X-linked spinal muscular atrophy
Likely benign 238
- c.1233+15G>A Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.1234-14C>T Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.1420-18T>G Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.1420-8C>T Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.1575+24C>G Multiple submitters
- c.2200-196G>T Multiple submitters
- c.2838+16C>T Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.2839-103A>G Multiple submitters
- c.345+20_345+23del Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.345+20T>C Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.910-8C>T Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Ala767Thr Multiple submitters Inborn genetic diseases
- p.Arg192= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Arg586= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Asp435= Multiple submitters Inborn genetic diseases
- p.Asp452= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Asp555= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Asp562= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Gln698= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Glu1046= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Glu137= Multiple submitters Inborn genetic diseases
- p.Gly467= Multiple submitters Inborn genetic diseases
- p.Gly467Asp Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Gly804= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Ile123= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Leu135= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Leu386= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Leu791= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Lys911= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Phe320= Multiple submitters Inborn genetic diseases
- p.Phe926= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Ser251= Multiple submitters Inborn genetic diseases
- p.Ser719= Multiple submitters Inborn genetic diseases
- p.Thr546= Multiple submitters Inborn genetic diseases
- p.Tyr141= Multiple submitters Inborn genetic diseases
- p.Tyr273= Multiple submitters Inborn genetic diseases
- p.Tyr451= Multiple submitters Inborn genetic diseases
- p.Val1048= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Val359= Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.1-2333G>A Single submitter
- c.1056+14C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1056+20A>G Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1057-19G>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1057-6C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1233+8C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1234-18C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1234-19_1234-16del Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1234-9C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1338+15C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1338+7G>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1339-17C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1339-18T>C Single submitter
- c.1419+92C>T Single submitter
- c.1420-146C>T Single submitter
- c.1420-18T>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1420-19C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1420-5C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1420-6T>G Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1575+68del Single submitter
- c.1575+9G>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1576-19C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1576-20G>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1741+20A>G Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1742-19C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1938+164C>T Single submitter
- c.1939-10C>G Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1939-11_1939-3del Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1939-18T>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1939-283G>C Single submitter
- c.1939-82C>T Single submitter
- c.2003+11C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2003+22_2003+23del Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2004-6T>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2004-8C>T Single submitter
- c.2199+17G>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2199+8C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2200-123G>T Single submitter
- c.2200-8T>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2274+10_2274+14del Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2274+10C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2274+14C>G Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2274+14C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2464+9_2464+16del Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2465-11T>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2465-17T>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2465-5T>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2554-6_2554-5del Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2554-6T>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2554-8C>T Single submitter
- c.2646+19_2646+20del Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2647-16C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2838+15C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2838+17G>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2838+19A>C Single submitter
- c.2839-121G>A Single submitter
- c.2839-20C>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2839-4G>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2839-4G>C Single submitter
- c.2839-4G>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2940+4A>G Single submitter infantile-onset X-linked spinal muscular atrophy
- c.3042-10C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.345+29_345+36del Single submitter infantile-onset X-linked spinal muscular atrophy
- c.346-10A>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.346-16C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.346-4dup Single submitter infantile-onset X-linked spinal muscular atrophy
- c.480+165C>T Single submitter
- c.480+313C>G Single submitter
- c.480+9G>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.481-13C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.588-13C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.588-20C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.588-4A>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.588-7T>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.678+10C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.679-16C>G Single submitter infantile-onset X-linked spinal muscular atrophy
- c.811+15T>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.811+17G>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.811+189G>A Single submitter
- c.811+18G>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.812-10C>T Single submitter
- c.812-14C>G Single submitter infantile-onset X-linked spinal muscular atrophy
- c.812-4G>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.812-8C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.909+11C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.909+9G>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.910-14T>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.910-7G>A Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ala1033= Single submitter
- p.Ala128= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ala406= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ala456= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ala640= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ala710= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ala865= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ala893= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ala895= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ala900= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Arg1054Gln Single submitter ⚠
- p.Arg723= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Arg880= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Arg944His Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asn181= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Asn212= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Asn262= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Asn282= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Asn398= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Asn770Ser Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Asp201= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Asp427= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Asp49= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Asp523= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Asp705= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Asp811= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Gln334His Single submitter Inborn genetic diseases ⚠
- p.Gln334Pro Single submitter Inborn genetic diseases
- p.Gln463= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Gln665= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Gln964= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Glu120= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Glu214= Single submitter
- p.Glu464= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Glu813= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Glu828= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Glu938Gly Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Gly1045= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Gly459= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Gly570= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Gly780= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Gly915= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.His1030= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.His180= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.His643= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.His712= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.His750= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.His808= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.His983= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ile277= Single submitter
- p.Ile629= Single submitter
- p.Ile641= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ile862= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Leu151= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Leu445= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Leu614= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Leu734= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Leu752= Single submitter
- p.Leu868= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Leu909= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Leu963= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Leu990= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Lys1026= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Lys436= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Lys443= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Phe1000= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Phe155= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Phe250= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Phe339Leu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Phe426= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Phe519= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Phe729= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Pro229= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Pro346= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Pro347= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Pro349= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Pro419= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Pro625= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Pro749= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Pro797= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ser1020= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ser1044= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ser281= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ser284= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ser511= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ser617= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ser877= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ser921= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr1016= Single submitter
- p.Thr167= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr191= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr274= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr280= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr556= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr600= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr603Ser Single submitter
- p.Thr702= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr708= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr896= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr898= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr953= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr988= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Tyr764= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Tyr947= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Val1053= Single submitter
- p.Val144= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Val162= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Val221= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Val269= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Val787= Single submitter
- c.2275-5_2275-3del No assertion criteria UBA1-related disorder
Uncertain significance 271
- c.2464+6_2464+9del Multiple submitters infantile-onset X-linked spinal muscular atrophy
- c.910-9C>G Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Ala136Ser Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ala391Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg288His Multiple submitters Inborn genetic diseases ⚠
- p.Arg345Gln Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg450His Multiple submitters Inborn genetic diseases ⚠
- p.Arg544Trp Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg693Cys Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg699Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg825His Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg917Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg944Cys Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asn228Ser Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asn351Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn757Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp563Tyr Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asp874Glu Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Gln338Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln538Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu129Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu380Lys Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Gly124Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly245Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly261Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly777Arg Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile123Val Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile287Val Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile383Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ile559Asn Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Leu186Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu655Ile Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Lys268Asn Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Phe116Cys Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Phe202Leu Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Phe247Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro150Ser Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Pro965Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ser211Cys Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ser293Asn Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ser620Pro Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ser835Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr167Ala Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Thr531Met Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Tyr117Asp Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Tyr948Asp Multiple submitters Inborn genetic diseases ⚠
- p.Val1031Met Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Val253Ile Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Val292Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val373Met Multiple submitters Inborn genetic diseases ⚠
- p.Val409Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val687Met Multiple submitters Inborn genetic diseases ⚠
- p.Val691Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val707Met Multiple submitters infantile-onset X-linked spinal muscular atrophy
- p.Val787Met Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- p.Val805Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val960Leu Multiple submitters infantile-onset X-linked spinal muscular atrophy ⚠
- c.1056+3_1056+5del Single submitter
- c.1233+9G>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1338+4T>C Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1575+5G>A Single submitter
- c.1576-14T>C Single submitter
- c.1741+15G>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1742-3C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1939-14_1939-13delinsAT Single submitter infantile-onset X-linked spinal muscular atrophy
- c.1939-171_1939-167del Single submitter
- c.2464+7G>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2838+8C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.2839-3C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.587+3G>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.678+4A>T Single submitter infantile-onset X-linked spinal muscular atrophy
- c.678+6G>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.-178G>A Single submitter infantile-onset X-linked spinal muscular atrophy
- c.*123C>T Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ala128Val Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ala136Thr Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ala146Thr Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ala355Val Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ala364Thr Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ala372Glu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ala372Gly Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ala372Thr Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ala372Val Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ala387Thr Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ala405Val Single submitter Inborn genetic diseases ⚠
- p.Ala456Thr Single submitter Inborn genetic diseases ⚠
- p.Ala476Val Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ala690Gly Single submitter ⚠
- p.Ala819Ile Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ala831Val Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ala895Gly Single submitter Inborn genetic diseases ⚠
- p.Ala942Thr Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg1021Cys Single submitter ⚠
- p.Arg1025Gln Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg1029Cys Single submitter ⚠
- p.Arg1032Gln Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg1058His Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg119Gln Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg119Trp Single submitter VEXAS syndrome ⚠
- p.Arg11Cys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg127Leu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg134Cys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg134His Single submitter Inborn genetic diseases ⚠
- p.Arg182His Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg192Gln Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg239Gln Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg345Trp Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg348Gln Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg348Gly Single submitter Inborn genetic diseases ⚠
- p.Arg348Trp Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg350Cys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg544Gln Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg551Cys Single submitter ⚠
- p.Arg551His Single submitter ⚠
- p.Arg558Cys Single submitter ⚠
- p.Arg558His Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg592Gln Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg693His Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg747Cys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg825Cys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Arg869Leu Single submitter ⚠
- p.Arg880Gln Single submitter UBA1-related disorder ⚠
- p.Arg880Trp Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Arg957Cys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asn126Ser Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asn139His Single submitter ⚠
- p.Asn166Ser Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asn212Ser Single submitter Inborn genetic diseases ⚠
- p.Asn212Thr Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asn228Thr Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asn260Ser Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asn377Lys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asn449Lys Single submitter Inborn genetic diseases ⚠
- p.Asn577Ser Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Asn606Ser Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asn818Asp Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asn856Ser Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Asn928Asp Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asn966Thr Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asp279Asn Single submitter Inborn genetic diseases ⚠
- p.Asp285Asn Single submitter Inborn genetic diseases ⚠
- p.Asp461Glu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asp523Asn Single submitter Inborn genetic diseases ⚠
- p.Asp530Glu Single submitter Inborn genetic diseases ⚠
- p.Asp555Glu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Asp563Gly Single submitter Inborn genetic diseases ⚠
- p.Asp585Glu Single submitter ⚠
- p.Asp650Glu Single submitter ⚠
- p.Asp669Glu Single submitter Inborn genetic diseases ⚠
- p.Asp848Asn Single submitter ⚠
- p.Asp874Ala Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Cys200Gly Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Cys431Ser Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Cys588Ser Single submitter Inborn genetic diseases ⚠
- p.Gln254His Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Gln338His Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Gln363His Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Gln692Arg Single submitter ⚠
- p.Gln698His Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Gln918His Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Glu1043Lys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Glu1046Lys Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Glu205Lys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Glu352Lys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Glu430Gln Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Glu434Ala Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Glu496Val Single submitter Inborn genetic diseases ⚠
- p.Glu626Asp Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Glu642Gln Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Glu651Asp Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Glu798Lys Single submitter Inborn genetic diseases ⚠
- p.Glu968Asp Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Glu969del Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Gly176Ala Single submitter ⚠
- p.Gly245Glu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Gly344Val Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Gly45Ser Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.His337Gln Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.His343Arg Single submitter ⚠
- p.His343Tyr Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile1057Ser Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile277Val Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile331Val Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile401Phe Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile479Leu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile490Thr Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile508Thr Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile543Met Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile543Thr Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile641Val Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile847Thr Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile862Val Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ile890Met Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Leu1007Phe Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Leu473= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Leu885Met Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Lys299Arg Single submitter Inborn genetic diseases ⚠
- p.Lys468Asn Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Lys593Thr Single submitter Inborn genetic diseases ⚠
- p.Lys802Arg Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Met1002Ile Single submitter Inborn genetic diseases ⚠
- p.Met220Val Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Met223Ile Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Met223Val Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Met265Val Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Met418Val Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Met539Ile Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Met859Val Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Met996Lys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Phe195Leu Single submitter ⚠
- p.Phe857Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1003Leu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Pro168Leu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Pro19Leu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Pro264Ala Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Pro326Arg Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Pro326Leu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Pro740Leu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Pro751Leu Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Pro751Ser Single submitter Inborn genetic diseases ⚠
- p.Pro759Arg Single submitter ⚠
- p.Pro876Ala Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ser249Phe Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ser251Leu Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ser276Gly Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ser281Phe Single submitter ⚠
- p.Ser284Cys Single submitter Inborn genetic diseases ⚠
- p.Ser305Cys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ser460Pro Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ser547Gly Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ser617Leu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ser620Cys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Ser719Leu Single submitter ⚠
- p.Ser803Phe Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Ter1059Trp Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr167Ile Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Thr191Met Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr280Ser Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Thr318Met Single submitter Inborn genetic diseases ⚠
- p.Thr440Arg Single submitter ⚠
- p.Thr440Pro Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Thr525= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Thr668Ile Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Thr682Ser Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Thr716Ile Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Thr896Met Single submitter ⚠
- p.Thr971Asn Single submitter ⚠
- p.Thr981Lys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Tyr388Cys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Tyr618Cys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Tyr922Phe Single submitter ⚠
- p.Tyr948Cys Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Val1022Ala Single submitter ⚠
- p.Val1031Leu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Val1035Met Single submitter ⚠
- p.Val152del Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Val152Leu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Val162Leu Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Val187Leu Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Val232Ile Single submitter ⚠
- p.Val292Ile Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Val307Ala Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Val365Ala Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Val438Gly Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Val502Ile Single submitter ⚠
- p.Val589Ile Single submitter infantile-onset X-linked spinal muscular atrophy ⚠
- p.Val607Met Single submitter Inborn genetic diseases ⚠
- p.Val796= Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Val863Met Single submitter Inborn genetic diseases
- p.Val901Met Single submitter infantile-onset X-linked spinal muscular atrophy
- p.Val960Ile Single submitter UBA1-related disorder ⚠