NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)Pathogenic
Developmental and epileptic encephalopathy, 44|not provided|Developmental and epileptic encephalopathy, 44;Spinocerebellar ataxia, autosomal recessive 24|Developmental and epileptic encephalopathy|UBA5-related disorder|Intellectual disability
★★☆☆2026→ Residue 371
NM_024818.6(UBA5):c.684G>A (p.Ala228=)Likely pathogenic
not provided|Developmental and epileptic encephalopathy, 44|Squamous cell carcinoma of the head and neck
★★☆☆2025→ Residue 228
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter)Pathogenic
Developmental and epileptic encephalopathy, 44|Developmental and epileptic encephalopathy, 44;Spinocerebellar ataxia, autosomal recessive 24|not provided
★★☆☆2025→ Residue 188
NM_024818.6(UBA5):c.799C>T (p.Gln267Ter)Pathogenic
not provided|Developmental and epileptic encephalopathy, 44;Spinocerebellar ataxia, autosomal recessive 24
★★☆☆2024→ Residue 267
NM_024818.6(UBA5):c.126del (p.Lys42_Met43insTer)Pathogenic
not provided|Intellectual disability
★★☆☆2024→ Residue 42
NM_024818.6(UBA5):c.164G>A (p.Arg55His)Pathogenic
Developmental and epileptic encephalopathy, 44|not provided
★★☆☆2024→ Residue 55
NM_024818.6(UBA5):c.181C>T (p.Arg61Ter)Pathogenic
Developmental and epileptic encephalopathy, 44|not provided
★★☆☆2023→ Residue 61
NM_024818.6(UBA5):c.724_725del (p.Lys242fs)Likely pathogenic
Developmental and epileptic encephalopathy, 44
★☆☆☆2026→ Residue 242
NM_024818.6(UBA5):c.778G>A (p.Val260Met)Likely pathogenic
Developmental and epileptic encephalopathy, 44|not provided
★☆☆☆2025→ Residue 260
NM_024818.6(UBA5):c.503G>A (p.Gly168Glu)Likely pathogenic
Developmental and epileptic encephalopathy, 44
★☆☆☆2024→ Residue 168
NM_024818.6(UBA5):c.838_841del (p.Ser280fs)Pathogenic
not provided
★☆☆☆2024→ Residue 280
NM_024818.6(UBA5):c.803dup (p.Asn268fs)Pathogenic
not provided
★☆☆☆2024→ Residue 268
NM_024818.6(UBA5):c.758G>C (p.Ser253Thr)Likely pathogenic
not provided
★☆☆☆2024→ Residue 253
NM_024818.6(UBA5):c.199G>T (p.Asp67Tyr)Likely pathogenic
Developmental and epileptic encephalopathy, 44
★☆☆☆2024→ Residue 67
NM_024818.6(UBA5):c.221_222del (p.Phe74fs)Pathogenic
not provided
★☆☆☆2024→ Residue 74
NM_024818.6(UBA5):c.388G>C (p.Ala130Pro)Likely pathogenic
Developmental and epileptic encephalopathy, 44
★☆☆☆2024→ Residue 130
NM_024818.6(UBA5):c.904C>T (p.Gln302Ter)Likely pathogenic
Developmental and epileptic encephalopathy, 44|UBA5-related disorder
★☆☆☆2023→ Residue 302
NM_024818.6(UBA5):c.407+1G>TLikely pathogenic
not provided
★☆☆☆2022
NM_024818.6(UBA5):c.1A>G (p.Met1Val)Pathogenic
Developmental and epileptic encephalopathy, 44
★☆☆☆2022→ Residue 1
NM_024818.6(UBA5):c.36_37del (p.Gln13fs)Pathogenic
Developmental and epileptic encephalopathy, 44
★☆☆☆2022→ Residue 13