NM_002069.6(GNAI1):c.143C>A (p.Thr48Lys)Pathogenic
Neurodevelopmental disorder|Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
★★☆☆2025→ Residue 48
NM_002069.6(GNAI1):c.518A>T (p.Asp173Val)Pathogenic
not provided|Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
★★☆☆2024→ Residue 173
NM_002069.6(GNAI1):c.814G>A (p.Asp272Asn)Pathogenic
not provided|Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
★★☆☆2024→ Residue 272
NM_002069.6(GNAI1):c.134G>A (p.Gly45Asp)Likely pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
★★☆☆2023→ Residue 45
NM_002069.6(GNAI1):c.995T>G (p.Val332Gly)Likely pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
★☆☆☆2026→ Residue 332
NM_002069.6(GNAI1):c.143C>T (p.Thr48Ile)Pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
★☆☆☆2025→ Residue 48
NM_002069.6(GNAI1):c.671G>A (p.Cys224Tyr)Pathogenic
not provided|Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
★☆☆☆2025→ Residue 224
NM_002069.6(GNAI1):c.814G>C (p.Asp272His)Likely pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
★☆☆☆2024→ Residue 272
NM_002069.6(GNAI1):c.809A>G (p.Lys270Arg)Pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities|Inborn genetic diseases
★☆☆☆2024→ Residue 270
NM_002069.6(GNAI1):c.130T>G (p.Ser44Ala)Likely pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
★☆☆☆2024→ Residue 44
NM_002069.6(GNAI1):c.170A>G (p.His57Arg)Likely pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
★☆☆☆2024→ Residue 57
NM_002069.6(GNAI1):c.670T>C (p.Cys224Arg)Likely pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
★☆☆☆2023→ Residue 224
NM_002069.6(GNAI1):c.142A>G (p.Thr48Ala)Likely pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
★☆☆☆2023→ Residue 48
NM_002069.6(GNAI1):c.611A>G (p.Gln204Arg)Likely pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
★☆☆☆2022→ Residue 204
NM_002069.6(GNAI1):c.118G>T (p.Gly40Cys)Likely pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
★☆☆☆2022→ Residue 40
NM_002069.6(GNAI1):c.155A>C (p.Gln52Pro)Likely pathogenic
not provided
★☆☆☆2020→ Residue 52
NM_002069.6(GNAI1):c.502_504del (p.Ile168del)Likely pathogenic
not provided
★☆☆☆→ Residue 168
NM_002069.6(GNAI1):c.142A>C (p.Thr48Pro)Likely pathogenic
Seizure
★☆☆☆→ Residue 48
NM_002069.6(GNAI1):c.995T>A (p.Val332Glu)Pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
☆☆☆☆2022→ Residue 332
NM_002069.6(GNAI1):c.815A>G (p.Asp272Gly)Pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
☆☆☆☆2022→ Residue 272