NM_016955.5(SEPSECS):c.808dupPathogenic
not provided|Pontocerebellar hypoplasia type 2D|Inborn genetic diseases|Pontoneocerebellar hypoplasia
β
β
ββ2026
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter)Pathogenic
not provided|Inborn genetic diseases|Pontocerebellar hypoplasia type 2D
β
β
ββ2026β Residue 271
NM_016955.4(SEPSECS):c.835del (p.Val279fs)Pathogenic
not provided|Pontocerebellar hypoplasia type 2D
β
β
ββ2026β Residue 279
NM_016955.4(SEPSECS):c.114+3A>GPathogenic
Neurodevelopmental abnormality|not provided|Pontoneocerebellar hypoplasia|Pontocerebellar hypoplasia type 2D
β
β
ββ2026
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)Pathogenic
Pontocerebellar hypoplasia type 2D|not provided|Pontoneocerebellar hypoplasia
β
β
ββ2025β Residue 239
NM_016955.4(SEPSECS):c.41C>A (p.Ser14Ter)Pathogenic
not provided|Pontocerebellar hypoplasia type 2D
β
β
ββ2025β Residue 14
NM_016955.4(SEPSECS):c.194A>G (p.Asn65Ser)Likely pathogenic
Pontocerebellar hypoplasia type 2D
β
β
ββ2025β Residue 65
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter)Pathogenic
not provided|Pontocerebellar hypoplasia type 2D
β
β
ββ2025β Residue 97
NM_016955.4(SEPSECS):c.919del (p.Ser307fs)Pathogenic
not provided|Pontocerebellar hypoplasia type 2D
β
β
ββ2025β Residue 307
NM_016955.4(SEPSECS):c.1148dup (p.His383fs)Pathogenic
not provided|Pontocerebellar hypoplasia type 2D
β
β
ββ2025β Residue 383
NM_016955.4(SEPSECS):c.163_164del (p.Leu55fs)Pathogenic
not provided|Pontocerebellar hypoplasia type 2D
β
β
ββ2025β Residue 55
NM_016955.4(SEPSECS):c.1027-2A>GLikely pathogenic
Pontocerebellar hypoplasia type 2D
β
β
ββ2025
NM_016955.4(SEPSECS):c.466C>T (p.Arg156Ter)Pathogenic
not provided|Pontocerebellar hypoplasia type 2D
β
β
ββ2025β Residue 156
NM_016955.4(SEPSECS):c.612dup (p.Val205fs)Pathogenic
Inborn genetic diseases|not provided|Pontocerebellar hypoplasia type 2D
β
β
ββ2025β Residue 205
NM_016955.4(SEPSECS):c.1178C>A (p.Ser393Ter)Pathogenic
not provided|Pontocerebellar hypoplasia type 2D
β
β
ββ2025β Residue 393
NM_016955.4(SEPSECS):c.448_449del (p.Leu150fs)Pathogenic
not provided|Pontocerebellar hypoplasia type 2D
β
β
ββ2025β Residue 150
NM_016955.4(SEPSECS):c.389-13_404delLikely pathogenic
not provided|Pontocerebellar hypoplasia type 2D
β
β
ββ2025
NM_016955.4(SEPSECS):c.1169_1173del (p.Gln390fs)Pathogenic
not provided|Pontocerebellar hypoplasia type 2D
β
β
ββ2024β Residue 390
NM_016955.4(SEPSECS):c.482del (p.Lys161fs)Pathogenic
not provided|Pontocerebellar hypoplasia type 2D
β
β
ββ2024β Residue 161
NM_016955.4(SEPSECS):c.313C>T (p.Gln105Ter)Pathogenic
not provided|Pontocerebellar hypoplasia type 2D
β
β
ββ2024β Residue 105