NM_001083619.3(GRIA2):c.2375G>A (p.Gly792Glu)Pathogenic
not provided|Neurodevelopmental disorder with language impairment and behavioral abnormalities
★★☆☆2025→ Residue 792
NM_001083619.3(GRIA2):c.2420C>T (p.Ala807Val)Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities|Inborn genetic diseases
★★☆☆2025→ Residue 807
NM_001083619.3(GRIA2):c.1915G>T (p.Ala639Ser)Likely pathogenic
not provided|Neurodevelopmental disorder with language impairment and behavioral abnormalities
★★☆☆2021→ Residue 639
NM_001083619.3(GRIA2):c.967C>T (p.Arg323Ter)Likely pathogenic
not provided|Neurodevelopmental disorder with language impairment and behavioral abnormalities
★★☆☆2021→ Residue 323
NM_001083619.3(GRIA2):c.2076G>A (p.Trp692Ter)Pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities
★☆☆☆2025→ Residue 692
NM_001083619.3(GRIA2):c.1662C>A (p.Tyr554Ter)Likely pathogenic
not provided
★☆☆☆2025→ Residue 554
NM_001083619.3(GRIA2):c.1934T>C (p.Leu645Pro)Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities
★☆☆☆2025→ Residue 645
NM_001083619.3(GRIA2):c.1915G>A (p.Ala639Thr)Pathogenic
not provided
★☆☆☆2025→ Residue 639
NM_001083619.3(GRIA2):c.1045A>T (p.Lys349Ter)Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities
★☆☆☆2025→ Residue 349
NM_001083619.3(GRIA2):c.2012dup (p.Leu671fs)Pathogenic
not provided
★☆☆☆2024→ Residue 671
NM_001083619.3(GRIA2):c.2363G>C (p.Trp788Ser)Likely pathogenic
not provided
★☆☆☆2024→ Residue 788
NM_001083619.3(GRIA2):c.1667G>A (p.Gly556Glu)Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities
★☆☆☆2023→ Residue 556
NM_001083619.3(GRIA2):c.1932C>G (p.Phe644Leu)Likely pathogenic
not provided
★☆☆☆2023→ Residue 644
NM_001083619.3(GRIA2):c.830G>A (p.Trp277Ter)Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities
★☆☆☆2023→ Residue 277
NM_001083619.3(GRIA2):c.2188A>T (p.Asn730Tyr)Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities
★☆☆☆2023→ Residue 730
NM_001083619.3(GRIA2):c.1859G>A (p.Arg620His)Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities
★☆☆☆2023→ Residue 620
NM_001083619.3(GRIA2):c.1940T>C (p.Val647Ala)Pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities
★☆☆☆2023→ Residue 647
NM_001083619.3(GRIA2):c.1565C>G (p.Ser522Cys)Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities
★☆☆☆2023→ Residue 522
NM_001083619.3(GRIA2):c.699C>A (p.Tyr233Ter)Pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities
★☆☆☆2022→ Residue 233
NM_001083619.3(GRIA2):c.1927G>A (p.Ala643Thr)Pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities
★☆☆☆2022→ Residue 643