NM_001135629.3(PPP1R21):c.2089C>T (p.Arg697Ter)Likely pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities|Neurodevelopmental disorder with hypotonia
β
βββ2024β Residue 697
NM_001135629.3(PPP1R21):c.463C>T (p.Gln155Ter)Likely pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β
βββ2024β Residue 155
NM_001135629.3(PPP1R21):c.1868C>G (p.Ser623Ter)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β
βββ2023β Residue 623
NM_001135629.3(PPP1R21):c.415G>T (p.Glu139Ter)Pathogenic
Inborn genetic diseases
β
βββ2022β Residue 139
NM_001135629.3(PPP1R21):c.1981G>T (p.Glu661Ter)Pathogenic
not provided
β
βββ2022β Residue 661
NM_001135629.3(PPP1R21):c.310C>T (p.Gln104Ter)Pathogenic
not provided
β
βββ2022β Residue 104
NM_001135629.3(PPP1R21):c.1171del (p.Lys390_Met391insTer)Likely pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β
βββ2022β Residue 390
NM_001135629.3(PPP1R21):c.541-2A>GLikely pathogenic
not provided
β
βββ2019
NM_001135629.3(PPP1R21):c.2063del (p.Lys688fs)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β
βββ2018β Residue 688
NM_001135629.3(PPP1R21):c.763del (p.Ile255fs)Likely pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β
ββββ Residue 255
NM_001135629.3(PPP1R21):c.126+2T>CLikely pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities|Thyroid cancer, nonmedullary, 1
β
βββ
NM_001135629.3(PPP1R21):c.748-3A>GPathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
ββββ2024
NM_001135629.3(PPP1R21):c.427C>T (p.Arg143Ter)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
ββββ2024β Residue 143
NM_001135629.3(PPP1R21):c.1950del (p.Arg651fs)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
ββββ2024β Residue 651
NM_001135629.3(PPP1R21):c.2096T>C (p.Leu699Pro)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
ββββ2024β Residue 699
NM_001135629.3(PPP1R21):c.224T>G (p.Leu75Arg)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
ββββ2024β Residue 75
NM_001135629.3(PPP1R21):c.347del (p.Ile116fs)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
ββββ2021β Residue 116
NM_001135629.3(PPP1R21):c.87_88del (p.Gly30fs)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
ββββ2021β Residue 30
NM_001135629.3(PPP1R21):c.193C>T (p.Arg65Ter)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
ββββ2021β Residue 65
NM_001135629.3(PPP1R21):c.1607dup (p.Leu536fs)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
ββββ2021β Residue 536