NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)Pathogenic
not provided|Houge-Janssens syndrome 2|Intellectual disability
β
β
ββ2025β Residue 183
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp)Pathogenic
Houge-Janssens syndrome 2|not provided|Inborn genetic diseases
β
β
ββ2025β Residue 182
NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His)Pathogenic
Houge-Janssens syndrome 2|not provided
β
β
ββ2025β Residue 258
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)Pathogenic
Inborn genetic diseases|Houge-Janssens syndrome 2|not provided|PPP2R1A-related disorder
β
β
ββ2025β Residue 219
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp)Pathogenic
Houge-Janssens syndrome 2|not provided|Colon adenocarcinoma
β
β
ββ2025β Residue 183
NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu)Pathogenic
Houge-Janssens syndrome 2|not provided|PPP2R1A-related neurodevelopmental disorders|Inborn genetic diseases|PPP2R1A-related disorder
β
β
ββ2025β Residue 179
NM_014225.6(PPP2R1A):c.548G>C (p.Arg183Pro)Likely pathogenic
Inborn genetic diseases|Houge-Janssens syndrome 2
β
β
ββ2025β Residue 183
NM_014225.6(PPP2R1A):c.658G>A (p.Val220Met)Pathogenic
not provided|Houge-Janssens syndrome 2
β
β
ββ2025β Residue 220
NM_014225.6(PPP2R1A):c.545G>A (p.Arg182Gln)Pathogenic
not provided|Houge-Janssens syndrome 2
β
β
ββ2024β Residue 182
NM_014225.6(PPP2R1A):c.536C>A (p.Pro179His)Pathogenic
Houge-Janssens syndrome 2|not provided
β
β
ββ2024β Residue 179
NM_014225.6(PPP2R1A):c.538A>G (p.Met180Val)Pathogenic
not provided|Houge-Janssens syndrome 2
β
β
ββ2024β Residue 180
NM_014225.6(PPP2R1A):c.539T>C (p.Met180Thr)Pathogenic
PPP2R1A-related disorder|not provided|Houge-Janssens syndrome 2
β
β
ββ2023β Residue 180
NM_014225.6(PPP2R1A):c.533C>A (p.Thr178Asn)Pathogenic
not provided
β
βββ2025β Residue 178
NM_014225.6(PPP2R1A):c.400C>T (p.Arg134Trp)Likely pathogenic
Houge-Janssens syndrome 2|Neoplasm
β
βββ2024β Residue 134
NM_014225.6(PPP2R1A):c.532A>G (p.Thr178Ala)Likely pathogenic
Houge-Janssens syndrome 2
β
βββ2023β Residue 178
NM_014225.6(PPP2R1A):c.843dup (p.Asp282fs)Pathogenic
Houge-Janssens syndrome 2
β
βββ2023β Residue 282
NM_014225.6(PPP2R1A):c.1493G>T (p.Arg498Leu)Likely pathogenic
Houge-Janssens syndrome 2
β
βββ2023β Residue 498
NM_014225.6(PPP2R1A):c.539T>G (p.Met180Arg)Likely pathogenic
See cases
β
βββ2021β Residue 180
NM_014225.6(PPP2R1A):c.522C>G (p.Cys174Trp)Likely pathogenic
Neurodevelopmental disorder
β
βββ2021β Residue 174
NM_014225.6(PPP2R1A):c.96C>G (p.Ile32Met)Likely pathogenic
Houge-Janssens syndrome 2
ββββ2022β Residue 32