Total 30 pathogenic variants reported for Developmental and epileptic encephalopathy, 44 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) SNV
Germline		 Chr3:132675903 Pathogenic/Likely pathogenic/Pathogenic, low penetrance Developmental and epileptic encephalopathy, 44
Condition: not provided
Developmental and epileptic encephalopathy, 44
Spinocerebellar ataxia, autosomal recessive 24
Developmental and epileptic encephalopathy
UBA5-related disorder
Intellectual disability		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2621540 rs_114925667

31 SubmittersRCV000256081RCV000523326RCV000626058RCV000825503RCV003323484RCV005625492
NM_024818.6(UBA5):c.164G>A (p.Arg55His) SNV
Germline		 Chr3:132665825 Pathogenic Developmental and epileptic encephalopathy, 44
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2621285 rs_774318611

3 SubmittersRCV000254932RCV001859491
NM_024818.6(UBA5):c.855C>A (p.Tyr285Ter) SNV
Germline		 Chr3:132675290 Pathogenic Developmental and epileptic encephalopathy, 44 No Assertion Criteria Provided
 CA10588804 rs_745968949

1 SubmittersRCV000255496
NM_024818.6(UBA5):c.181C>T (p.Arg61Ter) SNV
Germline		 Chr3:132665842 Pathogenic Developmental and epileptic encephalopathy, 44
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588805 rs_886039756

3 SubmittersRCV000256120RCV002521859
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter) SNV
Germline		 Chr3:132671032 Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 44
Developmental and epileptic encephalopathy, 44
Spinocerebellar ataxia, autosomal recessive 24
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588806 rs_374052333

4 SubmittersRCV000255198RCV000626057RCV001589309
NM_024818.6(UBA5):c.904C>T (p.Gln302Ter) SNV
Germline		 Chr3:132675339 Likely pathogenic Developmental and epileptic encephalopathy, 44
UBA5-related disorder		 Criteria Provided
Single Submitter
 CA10588807 rs_886039757

2 SubmittersRCV000255716RCV004547652
NM_024818.6(UBA5):c.778G>A (p.Val260Met) SNV
Germline		 Chr3:132672143 Likely pathogenic Developmental and epileptic encephalopathy, 44
Condition: not provided		 Criteria Provided
Single Submitter
 CA10588809 rs_886039759

2 SubmittersRCV000255234RCV005647991
NM_024818.6(UBA5):c.1165G>T (p.Asp389Tyr) SNV
Germline		 Chr3:132676476 Pathogenic Developmental and epileptic encephalopathy, 44 No Assertion Criteria Provided
 CA10588810 rs_886039760

1 SubmittersRCV000255798
NM_024818.6(UBA5):c.503G>A (p.Gly168Glu) SNV
Germline		 Chr3:132670973 Likely pathogenic Developmental and epileptic encephalopathy, 44 Criteria Provided
Single Submitter
 CA10588811 rs_886039761

2 SubmittersRCV000254833
NM_024818.6(UBA5):c.169A>G (p.Met57Val) SNV
Germline		 Chr3:132665830 Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 44
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2621286 rs_532178791

7 SubmittersRCV000255216RCV001859492
NM_024818.6(UBA5):c.910G>A (p.Asp304Asn) SNV
Germline		 Chr3:132675345 Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 44
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2621478 rs_772888455

3 SubmittersRCV000578334RCV001853836RCV006386889
NM_024818.6(UBA5):c.684G>A (p.Ala228=) SNV
Germline		 Chr3:132671881 Likely pathogenic Condition: not provided
Developmental and epileptic encephalopathy, 44
Squamous cell carcinoma of the head and neck		 Criteria Provided
Multiple Submitters
No Conflicts
 CA435799477 rs_1313071575

4 SubmittersRCV000578624RCV001262305RCV005898559
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg) SNV
Germline		 Chr3:132675342 Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 44 Criteria Provided
Conflicting Classifications
 CA354576324 rs_1553770577

2 SubmittersRCV000626019
NM_024818.6(UBA5):c.215G>A (p.Arg72His) SNV
Germline		 Chr3:132665991 Conflicting classifications of pathogenicity Condition: not provided
Developmental and epileptic encephalopathy, 44		 Criteria Provided
Conflicting Classifications
 CA2621305 rs_150313260

4 SubmittersRCV000998136RCV001249673
NM_024818.6(UBA5):c.-823C>A SNV
Germline		 Chr3:132659715 Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 44
not specified		 Criteria Provided
Conflicting Classifications
 CA2621225 rs_151048899

3 SubmittersRCV001332562RCV005419088
NM_024818.6(UBA5):c.761T>C (p.Leu254Pro) SNV
Germline		 Chr3:132672126 Pathogenic Developmental and epileptic encephalopathy, 44 Criteria Provided
Single Submitter
 CA354574751 rs_2107943727

1 SubmittersRCV001374854
NM_024818.6(UBA5):c.799C>T (p.Gln267Ter) SNV
Germline		 Chr3:132672164 Pathogenic/Likely pathogenic Condition: not provided
Developmental and epileptic encephalopathy, 44
Spinocerebellar ataxia, autosomal recessive 24		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2621453 rs_762779162

3 SubmittersRCV001561811RCV005023193
NM_024818.6(UBA5):c.199G>T (p.Asp67Tyr) SNV
Germline		 Chr3:132665860 Likely pathogenic Developmental and epileptic encephalopathy, 44 Criteria Provided
Single Submitter
 CA354572527 rs_61748106

1 SubmittersRCV001844311
NM_024818.6(UBA5):c.214C>T (p.Arg72Cys) SNV
Germline		 Chr3:132665990 Conflicting classifications of pathogenicity Condition: not provided
UBA5-related disorder
Developmental and epileptic encephalopathy, 44
Spinocerebellar ataxia, autosomal recessive 24		 Criteria Provided
Conflicting Classifications
 CA2621304 rs_778957097

3 SubmittersRCV001916057RCV004741140RCV005397145
NM_024818.6(UBA5):c.1A>G (p.Met1Val) SNV
Germline		 Chr3:132660538 Pathogenic Developmental and epileptic encephalopathy, 44 Criteria Provided
Single Submitter
 CA354572017 rs_2107921941

1 SubmittersRCV002246799
NM_024818.6(UBA5):c.1025-14G>A SNV
Germline		 Chr3:132675803 Conflicting classifications of pathogenicity Condition: not provided
Developmental and epileptic encephalopathy, 44		 Criteria Provided
Conflicting Classifications
 CA2621524 rs_552931444

2 SubmittersRCV002577266RCV005869862
NM_024818.6(UBA5):c.280A>G (p.Arg94Gly) SNV
Germline		 Chr3:132666056 Likely pathogenic Developmental and epileptic encephalopathy, 44 Criteria Provided
Single Submitter
 CA354572707 rs_2530303960

1 SubmittersRCV003225704
NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr) SNV
Germline		 Chr3:132671012 Likely pathogenic Developmental and epileptic encephalopathy, 44
Spinocerebellar ataxia, autosomal recessive 24		 Criteria Provided
Single Submitter
 CA354573752 rs_2530325660

1 SubmittersRCV003883350
NM_024818.6(UBA5):c.297+2T>C SNV
Germline		 Chr3:132666075 Likely pathogenic Developmental and epileptic encephalopathy, 44 Criteria Provided
Single Submitter
 CA354572752 rs_2530304011

1 SubmittersRCV004547251
NM_024818.6(UBA5):c.388G>C (p.Ala130Pro) SNV
Germline		 Chr3:132668908 Likely pathogenic Developmental and epileptic encephalopathy, 44 Criteria Provided
Single Submitter

1 SubmittersRCV005938260