NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)Pathogenic
not provided|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1
★★☆☆2026→ Residue 2085
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met)Pathogenic
Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|ATRX-related disorder|not provided
★★☆☆2026→ Residue 1621
NM_000489.6(ATRX):c.1727C>G (p.Ser576Ter)Pathogenic
Alpha thalassemia-X-linked intellectual disability syndrome|Neoplasm
★★☆☆2026→ Residue 576
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp)Pathogenic
not provided|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome
★★☆☆2025→ Residue 2178
NM_000489.6(ATRX):c.3089_3099del (p.Lys1030fs)Pathogenic
Alpha thalassemia-X-linked intellectual disability syndrome
★★☆☆2025→ Residue 1030
NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)Pathogenic
Alpha thalassemia-X-linked intellectual disability syndrome|not provided|Neoplasm
★★☆☆2025→ Residue 418
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)Pathogenic
Intellectual disability-hypotonic facies syndrome, X-linked|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Inborn genetic diseases|not provided|Alpha thalassemia-X-linked intellectual disability syndrome;Acquired hemoglobin H disease;Intellectual disability-hypotonic facies syndrome, X-linked, 1
★★☆☆2025→ Residue 37
NM_000489.6(ATRX):c.5281A>G (p.Met1761Val)Likely pathogenic
Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome|not provided
★★☆☆2025→ Residue 1761
NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln)Pathogenic
Intellectual disability-hypotonic facies syndrome, X-linked|Alpha thalassemia-X-linked intellectual disability syndrome;Intellectual disability-hypotonic facies syndrome, X-linked, 1|not provided|ATRX-related disorder|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome
★★☆☆2025→ Residue 2131
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter)Pathogenic
Alpha thalassemia-X-linked intellectual disability syndrome|not provided
★★☆☆2025→ Residue 576
NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)Likely pathogenic
Alpha thalassemia-X-linked intellectual disability syndrome|not provided
★★☆☆2025→ Residue 1661
NM_000489.6(ATRX):c.729C>G (p.Cys243Trp)Likely pathogenic
not provided|Alpha thalassemia-X-linked intellectual disability syndrome
★★☆☆2025→ Residue 243
NM_000489.6(ATRX):c.3064C>T (p.Arg1022Ter)Pathogenic
Alpha thalassemia-X-linked intellectual disability syndrome
★★☆☆2024→ Residue 1022
NM_000489.6(ATRX):c.1960C>T (p.Arg654Ter)Pathogenic
Alpha thalassemia-X-linked intellectual disability syndrome|ATR-X-related syndrome
★★☆☆2024→ Residue 654
NM_000489.6(ATRX):c.134-2A>GPathogenic
not provided|Alpha-thalassemia/intellectual disability syndrome
★★☆☆2024
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)Pathogenic
Alpha thalassemia-X-linked intellectual disability syndrome|not provided|Intellectual disability-hypotonic facies syndrome, X-linked, 1|ATRX-related disorder
★★☆☆2024→ Residue 2386
NM_000489.6(ATRX):c.740A>G (p.Asn247Ser)Likely pathogenic
Inborn genetic diseases|not provided
★★☆☆2024→ Residue 247
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)Pathogenic
Alpha thalassemia-X-linked intellectual disability syndrome|not provided|Inborn genetic diseases|Intellectual disability-hypotonic facies syndrome, X-linked, 1;Acquired hemoglobin H disease;Alpha thalassemia-X-linked intellectual disability syndrome|Renier-Gabreels-Jasper syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1
★★☆☆2024→ Residue 246
NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys)Likely pathogenic
Neonatal hypotonia|Alpha thalassemia-X-linked intellectual disability syndrome|Acquired hemoglobin H disease;Alpha thalassemia-X-linked intellectual disability syndrome;Intellectual disability-hypotonic facies syndrome, X-linked, 1
★★☆☆2024→ Residue 1847
NM_000489.6(ATRX):c.1753G>T (p.Glu585Ter)Pathogenic
not provided
★★☆☆2023→ Residue 585