NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly)Pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures|not provided|ADPRS-related disorder
★★☆☆2025→ Residue 335
NM_017825.3(ADPRS):c.414_418del (p.Ala139fs)Pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures|not provided
★★☆☆2025→ Residue 139
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu)Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
★★☆☆2025→ Residue 177
NM_017825.3(ADPRS):c.744_746del (p.Lys248_Ile249delinsAsn)Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures|not provided
★★☆☆2024→ Residue 248
NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro)Pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
★★☆☆2020→ Residue 79
NM_017825.3(ADPRS):c.640C>T (p.Gln214Ter)Pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
★☆☆☆2026→ Residue 214
NM_017825.3(ADPRS):c.726C>A (p.Tyr242Ter)Pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
★☆☆☆2026→ Residue 242
NM_017825.3(ADPRS):c.545A>G (p.His182Arg)Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
★☆☆☆2024→ Residue 182
NM_017825.3(ADPRS):c.340_341del (p.Arg114fs)Pathogenic
ADPRHL2-related disorder|not provided
★☆☆☆2024→ Residue 114
NM_017825.3(ADPRS):c.166C>T (p.Gln56Ter)Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
★☆☆☆2023→ Residue 56
NM_017825.3(ADPRS):c.292del (p.Val98fs)Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
★☆☆☆2022→ Residue 98
NM_017825.3(ADPRS):c.564C>A (p.Tyr188Ter)Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
★☆☆☆2021→ Residue 188
NM_017825.3(ADPRS):c.169_170del (p.Leu58fs)Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
★☆☆☆2019→ Residue 58
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter)Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
★☆☆☆2019→ Residue 106
NM_017825.3(ADPRS):c.485T>C (p.Leu162Pro)Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
★☆☆☆2019→ Residue 162
NM_017825.3(ADPRS):c.416_426del (p.Ala139fs)Pathogenic
not provided
★☆☆☆2019→ Residue 139
NM_017825.3(ADPRS):c.146del (p.Thr49fs)Pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
★☆☆☆→ Residue 49
NM_017825.3(ADPRS):c.100G>A (p.Asp34Asn)Pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
☆☆☆☆2018→ Residue 34
NM_017825.3(ADPRS):c.1000C>T (p.Gln334Ter)Pathogenic
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
☆☆☆☆2018→ Residue 334