NM_033419.5(PGAP3):c.914A>G (p.Asp305Gly)Pathogenic
Hyperphosphatasia with intellectual disability syndrome 4|not provided
β
β
ββ2026β Residue 305
NM_033419.5(PGAP3):c.827C>T (p.Pro276Leu)Pathogenic
not provided|Inborn genetic diseases|Hyperphosphatasia with intellectual disability syndrome 4|PGAP3-related disorder
β
β
ββ2025β Residue 276
NM_033419.5(PGAP3):c.639C>G (p.Tyr213Ter)Pathogenic
not provided
β
β
ββ2025β Residue 213
NM_033419.5(PGAP3):c.314C>A (p.Pro105Gln)Likely pathogenic
Hyperphosphatasia with intellectual disability syndrome 4
β
β
ββ2025β Residue 105
NM_033419.5(PGAP3):c.109G>T (p.Glu37Ter)Pathogenic
Inborn genetic diseases|Hyperphosphatasia with intellectual disability syndrome 4|not provided
β
β
ββ2025β Residue 37
NM_033419.5(PGAP3):c.558-10G>APathogenic
Hyperphosphatasia with intellectual disability syndrome 4|not provided
β
β
ββ2025
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu)Pathogenic
Hyperphosphatasia with intellectual disability syndrome 4|not provided
β
β
ββ2025β Residue 107
NM_033419.5(PGAP3):c.452dup (p.Trp152fs)Pathogenic
Hyperphosphatasia with intellectual disability syndrome 4|not provided
β
β
ββ2025β Residue 152
NM_033419.5(PGAP3):c.851A>G (p.His284Arg)Pathogenic
Hyperphosphatasia with intellectual disability syndrome 4|not provided
β
β
ββ2024β Residue 284
NM_033419.5(PGAP3):c.694+1G>APathogenic
not provided|Hyperphosphatasia with intellectual disability syndrome 4
β
β
ββ2024
NM_033419.5(PGAP3):c.265C>T (p.Gln89Ter)Pathogenic
not provided|Hyperphosphatasia with intellectual disability syndrome 4
β
β
ββ2024β Residue 89
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr)Pathogenic
Hyperphosphatasia with intellectual disability syndrome 4
β
β
ββ2024β Residue 284
NM_033419.5(PGAP3):c.402dup (p.Met135fs)Pathogenic
Hyperphosphatasia with intellectual disability syndrome 4|not provided
β
β
ββ2021β Residue 135
NM_033419.5(PGAP3):c.186G>A (p.Trp62Ter)Likely pathogenic
Hyperphosphatasia with intellectual disability syndrome 4
β
βββ2025β Residue 62
NM_033419.5(PGAP3):c.355del (p.Leu119fs)Pathogenic
Hyperphosphatasia with intellectual disability syndrome 4
β
βββ2024β Residue 119
NM_033419.5(PGAP3):c.181+1G>TLikely pathogenic
Hyperphosphatasia with intellectual disability syndrome 4
β
βββ2024
NM_033419.5(PGAP3):c.450dup (p.Phe151fs)Pathogenic
not provided
β
βββ2024β Residue 151
NM_033419.5(PGAP3):c.739C>T (p.Gln247Ter)Pathogenic
not provided
β
βββ2024β Residue 247
NM_033419.5(PGAP3):c.80dup (p.Val28fs)Pathogenic
Hyperphosphatasia with intellectual disability syndrome 4
β
βββ2024β Residue 28
NM_033419.5(PGAP3):c.571C>T (p.Gln191Ter)Pathogenic
not provided
β
βββ2023β Residue 191