NM_025077.4(TOE1):c.940_941del (p.Gln314fs)Pathogenic
Pontocerebellar hypoplasia type 7|not provided
★★☆☆2025→ Residue 314
NM_025077.4(TOE1):c.733G>T (p.Glu245Ter)Pathogenic
not provided
★★☆☆2024→ Residue 245
NM_025077.4(TOE1):c.764del (p.Asn255fs)Likely pathogenic
Pontocerebellar hypoplasia type 7
★☆☆☆2026→ Residue 255
NM_025077.4(TOE1):c.31dup (p.Ser11fs)Pathogenic
not provided
★☆☆☆2025→ Residue 11
NM_025077.4(TOE1):c.518T>G (p.Val173Gly)Pathogenic
Pontocerebellar hypoplasia type 7|not provided
★☆☆☆2025→ Residue 173
NM_025077.4(TOE1):c.668del (p.Pro223fs)Pathogenic
not provided
★☆☆☆2025→ Residue 223
NM_025077.4(TOE1):c.373_374del (p.Leu125fs)Likely pathogenic
not provided
★☆☆☆2024→ Residue 125
NM_025077.4(TOE1):c.505C>T (p.Gln169Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 169
NM_025077.4(TOE1):c.626dup (p.Ser210fs)Pathogenic
not provided
★☆☆☆2024→ Residue 210
NM_025077.4(TOE1):c.805G>T (p.Glu269Ter)Pathogenic
not provided
★☆☆☆2023→ Residue 269
NM_025077.4(TOE1):c.1062del (p.Thr355fs)Likely pathogenic
Pontocerebellar hypoplasia type 7
★☆☆☆2022→ Residue 355
NM_025077.4(TOE1):c.544C>T (p.Arg182Ter)Likely pathogenic
Pontocerebellar hypoplasia type 7
★☆☆☆2022→ Residue 182
NM_025077.4(TOE1):c.551G>T (p.Arg184Leu)Likely pathogenic
Pontocerebellar hypoplasia type 7
★☆☆☆2021→ Residue 184
NM_025077.4(TOE1):c.237-2A>GLikely pathogenic
Pontocerebellar hypoplasia type 7
★☆☆☆2021
NM_025077.4(TOE1):c.1172del (p.Asn391fs)Likely pathogenic
See cases
★☆☆☆2021→ Residue 391
NM_025077.4(TOE1):c.913-2A>GLikely pathogenic
Pontocerebellar hypoplasia type 7
★☆☆☆2019
NM_025077.4(TOE1):c.1018C>T (p.Arg340Ter)Likely pathogenic
Pontocerebellar hypoplasia type 7
★☆☆☆2019→ Residue 340
NM_025077.4(TOE1):c.448C>T (p.Gln150Ter)Pathogenic
not provided
★☆☆☆2019→ Residue 150
NM_025077.4(TOE1):c.539T>A (p.Leu180Gln)Likely pathogenic
Inborn genetic diseases
★☆☆☆2019→ Residue 180
NM_025077.4(TOE1):c.908_910del (p.Phe303del)Likely pathogenic
TOE1-related disorder
☆☆☆☆2024→ Residue 303