NM_022552.5(DNMT3A):c.958C>T (p.Arg320Ter)Pathogenic
Tatton-Brown-Rahman overgrowth syndrome|not provided|EBV-positive nodal T- and NK-cell lymphoma|Inborn genetic diseases
★★☆☆2025→ Residue 320
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)Pathogenic
not provided|Acute myeloid leukemia|Tatton-Brown-Rahman overgrowth syndrome|Inborn genetic diseases|Neurodevelopmental disorder|EBV-positive nodal T- and NK-cell lymphoma|DNMT3A-related disorder|Neoplasm|Heyn-Sproul-Jackson syndrome
★★☆☆2025→ Residue 882
NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter)Pathogenic
Intellectual disability|Tatton-Brown-Rahman overgrowth syndrome|not provided
★★☆☆2025→ Residue 143
NM_022552.5(DNMT3A):c.176dup (p.Val60fs)Pathogenic
not provided|Tatton-Brown-Rahman overgrowth syndrome
★★☆☆2025→ Residue 60
NM_022552.5(DNMT3A):c.901C>T (p.Arg301Trp)Pathogenic
not provided|Inborn genetic diseases|Meningioma
★★☆☆2025→ Residue 301
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter)Pathogenic
not provided|Tatton-Brown-Rahman overgrowth syndrome|Acute myeloid leukemia|Inborn genetic diseases
★★☆☆2025→ Residue 771
NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln)Pathogenic
Tatton-Brown-Rahman overgrowth syndrome|Inborn genetic diseases|Acute myeloid leukemia;Tatton-Brown-Rahman overgrowth syndrome;Heyn-Sproul-Jackson syndrome
★★☆☆2025→ Residue 771
NM_022552.5(DNMT3A):c.2207G>A (p.Arg736His)Pathogenic
not provided|Tatton-Brown-Rahman overgrowth syndrome
★★☆☆2025→ Residue 736
NM_022552.5(DNMT3A):c.2245C>T (p.Arg749Cys)Pathogenic
Tatton-Brown-Rahman overgrowth syndrome|Melanoma|not provided
★★☆☆2025→ Residue 749
NM_022552.5(DNMT3A):c.2711C>T (p.Pro904Leu)Pathogenic
not provided|Tatton-Brown-Rahman overgrowth syndrome;Autism spectrum disorder|Tatton-Brown-Rahman overgrowth syndrome|EBV-positive nodal T- and NK-cell lymphoma|Inborn genetic diseases
★★☆☆2025→ Residue 904
NM_022552.5(DNMT3A):c.2309C>T (p.Ser770Leu)Pathogenic
Tatton-Brown-Rahman overgrowth syndrome|not provided
★★☆☆2025→ Residue 770
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)Pathogenic
Tatton-Brown-Rahman overgrowth syndrome|not provided|Acute myeloid leukemia|Abnormality of the nervous system|Inborn genetic diseases|not specified|Intellectual disability|EBV-positive nodal T- and NK-cell lymphoma|DNMT3A-related disorder|Neoplasm|Clonal Cytopenia of Undetermined Significance
★★☆☆2025→ Residue 882
NM_022552.5(DNMT3A):c.855+1G>ALikely pathogenic
Tatton-Brown-Rahman overgrowth syndrome
★★☆☆2024
NM_022552.5(DNMT3A):c.2478+1G>APathogenic
not provided|Tatton-Brown-Rahman overgrowth syndrome
★★☆☆2024
NM_022552.5(DNMT3A):c.1978T>C (p.Tyr660His)Likely pathogenic
Tatton-Brown-Rahman overgrowth syndrome;Autism spectrum disorder|not provided|Tatton-Brown-Rahman overgrowth syndrome;Acute myeloid leukemia;Heyn-Sproul-Jackson syndrome
★★☆☆2024→ Residue 660
NM_022552.5(DNMT3A):c.1792C>T (p.Arg598Ter)Pathogenic
Tatton-Brown-Rahman overgrowth syndrome|See cases|not provided
★★☆☆2023→ Residue 598
NM_022552.5(DNMT3A):c.1643T>C (p.Met548Thr)Pathogenic
Inborn genetic diseases|not provided
★★☆☆2023→ Residue 548
NM_022552.5(DNMT3A):c.2580G>A (p.Trp860Ter)Pathogenic
Inborn genetic diseases|Intellectual disability
★★☆☆2023→ Residue 860
NM_022552.5(DNMT3A):c.1647C>A (p.Cys549Ter)Pathogenic
6 conditions|Tatton-Brown-Rahman overgrowth syndrome
★★☆☆2023→ Residue 549
NM_022552.5(DNMT3A):c.1711dup (p.Ala571fs)Pathogenic
Tatton-Brown-Rahman overgrowth syndrome
★★☆☆2023→ Residue 571