DNMT3A — 1198 ClinVar variants

All ClinVar germline DNMT3A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 432 flagged for review →

107 Pathogenic · 13 Pathogenic/Likely pathogenic · 78 Likely pathogenic · 32 Conflicting · 26 Benign · 13 Benign/Likely benign · 448 Likely benign · 481 Uncertain significance

Full DNMT3A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 432

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

DNMT3A p.Ala3Ser Likely pathogenic No assertion criteria
plasma cell myeloma

Predictors agree, ClinVar conflicts 15

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

DNMT3A p.Arg635Trp Conflicting Single submitter
Inborn genetic diseases
DNMT3A p.Arg736Cys Conflicting Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg882Ser Conflicting Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Cys562Arg Conflicting Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Glu20Lys Conflicting Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Gly113Arg Conflicting Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Gly118Ala Conflicting Single submitter
DNMT3A-related disorder
DNMT3A p.Gly26Arg Conflicting Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Gly332Arg Conflicting Single submitter
hereditary pheochromocytoma-paraganglioma
DNMT3A p.Gly550Arg Conflicting Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ile292Thr Conflicting Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Leu300Arg Conflicting Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ser714Cys Conflicting Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Tyr735Cys Conflicting Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Tyr735Ser Conflicting Single submitter
Tatton-Brown-Rahman overgrowth syndrome

Predictors lean, ClinVar uncertain 263

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 263

DNMT3A p.Ala246Thr Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala449Thr Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala70Val Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala910Val Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg23Gln Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg379Cys Uncertain significance Multiple submitters
DNMT3A-related disorder
DNMT3A p.Arg38His Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg544His Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Arg55His Uncertain significance Multiple submitters
DNMT3A-related disorder
DNMT3A p.Arg676Gln Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg688Cys Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg729Trp Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg96Gln Uncertain significance Multiple submitters
acute myeloid leukemia
DNMT3A p.Cys911Tyr Uncertain significance Multiple submitters
Heyn-Sproul-Jackson syndrome
DNMT3A p.Glu241Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Glu30Gly Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Glu469Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Gly108Arg Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Gly278Asp Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ile490Thr Uncertain significance Multiple submitters
DNMT3A-related disorder
DNMT3A p.Lys219Arg Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Lys632Arg Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Met161Val Uncertain significance Multiple submitters
DNMT3A-related disorder
DNMT3A p.Met78Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Pro233Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Pro244Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Pro245Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Pro89Ser Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ser236Pro Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Thr835Met Uncertain significance Multiple submitters
DNMT3A p.Trp581Cys Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala122Pro Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala122Thr Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala149Thr Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala17Val Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala269Gly Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala368Thr Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala376Asp Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala398Gly Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Ala3Thr Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala445Thr Uncertain significance Single submitter
Heyn-Sproul-Jackson syndrome
DNMT3A p.Ala449Ser Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Ala449Val Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Ala462Glu Uncertain significance Single submitter
DNMT3A p.Ala571Thr Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala572Pro Uncertain significance Single submitter
DNMT3A p.Ala610Gly Uncertain significance Single submitter
DNMT3A p.Ala79Thr Uncertain significance Single submitter
DNMT3A p.Ala806Thr Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala825Val Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala84Thr Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala903Pro Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg130Gly Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg143Gln Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg169Leu Uncertain significance Single submitter
DNMT3A p.Arg183Trp Uncertain significance Single submitter
DNMT3A p.Arg19Gln Uncertain significance Single submitter
intellectual disability
DNMT3A p.Arg288Trp Uncertain significance Single submitter
DNMT3A p.Arg309Cys Uncertain significance Single submitter
DNMT3A p.Arg309Pro Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Arg318Gln Uncertain significance Single submitter
DNMT3A p.Arg326Cys Uncertain significance Single submitter
DNMT3A p.Arg379His Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg38Leu Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg458Leu Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Arg458Trp Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Arg476Gly Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Arg476Lys Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Arg50Trp Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg556Ser Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg55Cys Uncertain significance Single submitter
DNMT3A p.Arg604Pro Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Arg604Trp Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg631Ser Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Arg676Trp Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg749Ser Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg771Leu Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Arg792Cys Uncertain significance Single submitter
DNMT3A p.Arg866Ser Uncertain significance Single submitter
DNMT3A p.Arg885Thr Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Arg899Cys Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Asn225Ser Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Asn230Lys Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Asn273Asp Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Asn403Ser Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Asn501Ile Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Asn516Thr Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Asn776Thr Uncertain significance Single submitter
DNMT3A p.Asn797Ser Uncertain significance Single submitter
neurodevelopmental disorder
DNMT3A p.Asn90Ser Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Asp11Asn Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Asp22Asn Uncertain significance Single submitter
DNMT3A p.Asp271Gly Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Asp280Glu Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Asp531Asn Uncertain significance Single submitter
DNMT3A p.Asp531His Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Asp564Glu Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Asp600Tyr Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Asp68Gly Uncertain significance Single submitter
DNMT3A p.Asp702Asn Uncertain significance Single submitter
DNMT3A p.Asp845Glu Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Asp876Asn Uncertain significance Single submitter
DNMT3A-related disorder
DNMT3A p.Cys340Gly Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Cys497Ser Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Cys514Gly Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Cys517Gly Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Cys517Tyr Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Cys537Arg Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Cys549Trp Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Cys559Arg Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Cys586Tyr Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Cys666Trp Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Cys710Tyr Uncertain significance Single submitter
DNMT3A p.Gln110Glu Uncertain significance Single submitter
DNMT3A p.Gln237Arg Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gln402Glu Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gln606Arg Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Gln816His Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Glu123Gln Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Glu123Lys Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Glu152Gly Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Glu159Lys Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Glu561Lys Uncertain significance Single submitter
DNMT3A p.Glu578Gln Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Glu725Lys Uncertain significance Single submitter
DNMT3A p.Glu745Asp Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Glu774Lys Uncertain significance Single submitter
DNMT3A p.Glu86Gly Uncertain significance Single submitter
DNMT3A p.Gly108Ala Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Gly112Ser Uncertain significance Single submitter
DNMT3A p.Gly232Arg Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Gly234Arg Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Gly298Glu Uncertain significance Single submitter
DNMT3A p.Gly512Glu Uncertain significance Single submitter
DNMT3A p.Gly542Arg Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gly587Trp Uncertain significance Single submitter
DNMT3A p.Gly590Ala Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gly593Glu Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Gly646Arg Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Gly673Ser Uncertain significance Single submitter
DNMT3A p.Gly685Arg Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Gly728Asp Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gly800Cys Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gly800Ser Uncertain significance Single submitter
DNMT3A p.Gly83Asp Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.His355Tyr Uncertain significance Single submitter
DNMT3A p.His388Arg Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.His588Asn Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.His677Tyr Uncertain significance Single submitter
DNMT3A p.Ile221Val Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 153

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 153

DNMT3A p.Ala380Thr Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala462Val Likely benign Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg169Trp Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg19Trp Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg33Cys Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg33His Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg596Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Asn489His Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Asn501Ser Likely benign Multiple submitters
Inborn genetic diseases
DNMT3A p.Asp280Asn Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Glu427Gly Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Glu482Asp Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Gly587Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Pro244His Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Pro569Leu Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ser77Phe Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Thr124Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Thr44Met Likely benign Multiple submitters
Inborn genetic diseases
DNMT3A p.Val372Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Val435Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Val467Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Val687Ile Uncertain significance Multiple submitters
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Val690Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DNMT3A p.Ala226Thr Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Ala353Thr Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ala353Val Uncertain significance Single submitter
DNMT3A p.Ala357Thr Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Ala574Thr Uncertain significance Single submitter
DNMT3A p.Ala574Val Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Ala610Val Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Ala903Ser Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Arg130Ile Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg209Cys Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg209Gly Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg209His Uncertain significance Single submitter
DNMT3A p.Arg288Gln Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg366His Conflicting Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg38Cys Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg46Gln Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg474Cys Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg474His Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg488Gln Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg488Trp Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Arg50Gln Uncertain significance Single submitter
DNMT3A p.Arg53Lys Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg596Leu Uncertain significance Single submitter
DNMT3A p.Arg597Gln Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg635Gln Conflicting Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Arg659Cys Uncertain significance Single submitter
DNMT3A p.Arg659His Conflicting Single submitter
Inborn genetic diseases
DNMT3A p.Asn430Lys Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Asn430Ser Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Asn489Thr Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Asn611Lys Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Asn776Ser Uncertain significance Single submitter
DNMT3A p.Asn802Ser Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Asn810Ser Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Asp279Asn Conflicting Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Asp280Tyr Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Asp389Asn Uncertain significance Single submitter
DNMT3A p.Asp391Asn Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Asp438Gly Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Asp530Asn Uncertain significance Single submitter
DNMT3A p.Asp614Asn Uncertain significance Single submitter
DNMT3A p.Asp64Val Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Cys487Arg Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gln248His Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gln249His Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gln415Leu Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gln485Lys Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gln485Pro Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gln573Arg Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gln573His Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gln692His Uncertain significance Single submitter
DNMT3A p.Gln816Glu Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Glu215Asp Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Glu241Lys Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Glu40Asp Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Glu426Lys Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Glu427Val Likely benign Single submitter
autism spectrum disorder
DNMT3A p.Glu434Gln Uncertain significance Single submitter
DNMT3A p.Glu473Asp Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Glu599Ala Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Glu697Asp Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gly104Trp Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Gly287Asp Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gly334Ser Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Gly381Arg Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Gly587Glu Uncertain significance Single submitter
DNMT3A p.His694Tyr Uncertain significance Single submitter
DNMT3A p.Ile221Thr Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ile310Val Uncertain significance Single submitter
DNMT3A p.Ile471Met Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Ile471Val Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ile576Val Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Ile634Met Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Leu411Gln Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Leu813Met Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Lys211Glu Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Lys382Met Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Lys459Arg Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Lys468Glu Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Lys589Arg Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Phe190Leu Uncertain significance Single submitter
DNMT3A p.Phe384Leu Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Pro139Arg Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Pro282Ala Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Pro282Thr Uncertain significance Single submitter
DNMT3A p.Pro363Thr Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Pro385Ala Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Pro385Leu Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Pro405Ala Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Pro41Leu Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Pro425Ala Uncertain significance Single submitter
DNMT3A p.Pro425Leu Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Pro443Ser Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Pro450Ser Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Pro457Ser Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Pro59Gln Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Pro602Thr Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Pro619Ser Uncertain significance Single submitter
DNMT3A p.Pro633Ala Uncertain significance Single submitter
DNMT3A p.Ser129Leu Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ser236Phe Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Ser255Cys Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Ser319Asn Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Ser352Asn Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Ser378Ile Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Ser417Phe Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Ser460Asn Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Thr138Asn Uncertain significance Single submitter
DNMT3A p.Thr138Ile Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Thr257Asn Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Thr437Met Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Thr43Ile Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Thr65Met Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Thr671Met Conflicting Single submitter
DNMT3A-related disorder
DNMT3A p.Tyr432Cys Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Tyr592His Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Tyr592Phe Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Val265Met Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Val386Met Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Val435Leu Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Val483Leu Uncertain significance Single submitter
Inborn genetic diseases
DNMT3A p.Val510Ile Likely benign Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Val763Ile Uncertain significance Single submitter
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A p.Val877Ile Uncertain significance Single submitter
DNMT3A p.Ala454Gly Uncertain significance No assertion criteria
DNMT3A-related disorder
DNMT3A p.Arg596Trp Uncertain significance No assertion criteria
DNMT3A-related disorder
DNMT3A p.Glu133Gly Uncertain significance No assertion criteria
DNMT3A-related disorder

All DNMT3A variants

Pathogenic 107

c.1937-2A>G Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Arg143Ter Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Arg320Ter Multiple submitters Inborn genetic diseases
p.Arg736His Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Arg749Cys Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Arg771Ter Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Cys549Ter Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Ser770Leu Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Trp601Ter Multiple submitters DNMT3A-related disorder
p.Val60fs Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
c.1015-3_1015-1delinsAA Single submitter
c.1555-1G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1555-1G>T Single submitter
c.1851+1G>C Single submitter
c.2322+1G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2409-2A>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Ala114fs Single submitter
p.Ala246fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Ala449fs Single submitter
p.Arg598fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Arg891fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Asp11fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Asp394fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Cys494Ser Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Cys562Gly Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Cys583fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Cys583Tyr Single submitter
p.Cys586Phe Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gln153Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gln248Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gln356Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gln415fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gln415Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gln846Ter Single submitter Inborn genetic diseases
p.Glu285Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Glu342fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Glu434fs Single submitter
p.Glu469Ter Single submitter Inborn genetic diseases
p.Glu477fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Glu733Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Glu820Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Glu865fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly10fs Single submitter
p.Gly298Arg Single submitter
p.Gly298Trp Single submitter Inborn genetic diseases
p.Gly512fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly543Arg Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly543Asp Single submitter
p.Gly593fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly646fs Single submitter acute myeloid leukemia
p.Gly726Val Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly796fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly800_Met801insTer Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Ile221fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Ile824fs Single submitter
p.Leu504fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Leu639fs Single submitter Inborn genetic diseases
p.Leu773fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Lys140fs Single submitter
p.Lys299Ile Single submitter hereditary pheochromocytoma-paraganglioma
p.Lys335fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Lys343fs Single submitter
p.Lys455Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Lys456fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Lys459fs Single submitter
p.Lys680fs Single submitter Inborn genetic diseases
p.Lys721fs Single submitter
p.Met682fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Phe290fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Phe354fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Phe384fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Phe414fs Single submitter Inborn genetic diseases
p.Phe509fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Phe640fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Phe870fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Phe909Ser Single submitter
p.Ser349fs Single submitter
p.Ser6fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Trp206Ter Single submitter
p.Trp210Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Trp306Ter Single submitter neurodevelopmental disorder
p.Trp409Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Trp698Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Trp753Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Trp795Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Trp893Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Tyr365fs Single submitter Heyn-Sproul-Jackson syndrome
p.Tyr365Ter Single submitter acute myeloid leukemia
p.Tyr526Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Tyr536Ter Single submitter
p.Tyr683fs Single submitter
p.Val716Ile Single submitter
c.1012_1014+3del No assertion criteria Heyn-Sproul-Jackson syndrome
c.2597+1G>A No assertion criteria Tatton-Brown-Rahman overgrowth syndrome
p.Ala254fs No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
p.Arg544fs No assertion criteria Tatton-Brown-Rahman overgrowth syndrome
p.Gln402Ter No assertion criteria early T cell progenitor acute lymphoblastic leukemia
p.Glu427Ter No assertion criteria Tatton-Brown-Rahman overgrowth syndrome
p.Ile310Asn No assertion criteria Tatton-Brown-Rahman overgrowth syndrome
p.Leu648Pro No assertion criteria Tatton-Brown-Rahman overgrowth syndrome
p.Lys420Ter No assertion criteria Tatton-Brown-Rahman overgrowth syndrome
p.Met548Lys No assertion criteria Tatton-Brown-Rahman overgrowth syndrome
p.Phe751fs No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
p.Phe902Ser No assertion criteria Tatton-Brown-Rahman overgrowth syndrome
p.Trp297del No assertion criteria Tatton-Brown-Rahman overgrowth syndrome
p.Trp330Arg No assertion criteria Heyn-Sproul-Jackson syndrome
p.Trp440Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma

Pathogenic/Likely pathogenic 13

c.2478+1G>A Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Ala571fs Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Arg301Trp Multiple submitters Inborn genetic diseases
p.Arg598Ter Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Arg688His Multiple submitters Inborn genetic diseases
p.Arg771Gln Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Arg882Cys Multiple submitters Heyn-Sproul-Jackson syndrome
p.Arg882His Multiple submitters Inborn genetic diseases
p.Lys335Arg Multiple submitters Neonatal hypotonia
p.Met548Thr Multiple submitters Inborn genetic diseases
p.Pro904Leu Multiple submitters Inborn genetic diseases
p.Trp297Ter Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Trp860Ter Multiple submitters intellectual disability

Likely pathogenic 78

c.855+1G>A Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Asp529Asn Multiple submitters hypoparathyroidism
p.Tyr660His Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
c.1015-2A>G Single submitter
c.1430-1G>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1554+1G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1667+1G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1851+3G>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2173+1G>A Single submitter
c.2408+2T>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2409-1G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2478+1G>T Single submitter
c.2479-1G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2479-1G>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2597+1G>T Single submitter
c.2598-1G>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.448+1G>A Single submitter
p.Ala45fs Single submitter
p.Arg729Gln Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Arg736Leu Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Arg771Gly Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Asp333Asn Single submitter Heyn-Sproul-Jackson syndrome
p.Asp702Gly Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Asp81fs Single submitter
p.Cys497Phe Single submitter
p.Cys554Ser Single submitter DNMT3A-related disorder
p.Cys557Arg Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Cys559Tyr Single submitter acute myeloid leukemia
p.Gln249Ter Single submitter autism spectrum disorder
p.Gln485fs Single submitter
p.Gln485Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gln842Arg Single submitter acute myeloid leukemia
p.Gln886fs Single submitter
p.Glu213= Single submitter Inborn genetic diseases
p.Glu235fs Single submitter intellectual disability
p.Glu423Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Glu545Gly Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly234fs Single submitter
p.Gly302Ala Single submitter Heyn-Sproul-Jackson syndrome
p.Gly543Ser Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly642fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly642Val Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly699Asp Single submitter
p.Gly796Cys Single submitter Inborn genetic diseases
p.Gly869Ala Single submitter Inborn genetic diseases
p.His847fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Ile898Thr Single submitter neurodevelopmental disorder
p.Leu373Pro Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Leu508Pro Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Leu639Pro Single submitter
p.Leu738Arg Single submitter
p.Lys299fs Single submitter acute myeloid leukemia
p.Lys299Gln Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Phe752del Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Pro307Leu Single submitter acute myeloid leukemia
p.Pro700Leu Single submitter
p.Pro718fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Pro777His Single submitter
p.Ser663Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Thr251fs Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Thr832Ile Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Trp306Arg Single submitter Heyn-Sproul-Jackson syndrome
p.Trp330Leu Single submitter hereditary pheochromocytoma-paraganglioma
p.Tyr481Ter Single submitter
p.Tyr623fs Single submitter
p.Tyr908Asn Single submitter intellectual disability
p.Val636Glu Single submitter
p.Val636Leu Single submitter
p.Val636Met Single submitter
p.Val684fs Single submitter
p.Ala3Ser No assertion criteria plasma cell myeloma ⚠
p.Gln696Ter No assertion criteria Tatton-Brown-Rahman overgrowth syndrome
p.His588fs No assertion criteria DNMT3A-related disorder
p.Ile539fs No assertion criteria DNMT3A-related disorder
p.Met345fs No assertion criteria acute myeloid leukemia
p.Pro904Ser No assertion criteria glioblastoma
p.Trp314fs No assertion criteria DNMT3A-related disorder
p.Trp327Ter No assertion criteria DNMT3A-related disorder

Conflicting classifications of pathogenicity 32

c.1015-4C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2598-3C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.639+6G>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.856-10G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Arg366His Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg635Gln Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg635Trp Single submitter Inborn genetic diseases ⚠
p.Arg659His Single submitter Inborn genetic diseases ⚠
p.Arg736Cys Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg882Ser Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Asp279Asn Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Cys497= Single submitter Inborn genetic diseases
p.Cys562Arg Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Glu20Lys Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Gly113Arg Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Gly118Ala Single submitter DNMT3A-related disorder ⚠
p.Gly26Arg Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Gly332Arg Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Gly381= Single submitter Inborn genetic diseases
p.Gly550Arg Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ile292Thr Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ile715= Single submitter Inborn genetic diseases
p.Leu300Arg Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Pro385= Single submitter Inborn genetic diseases
p.Ser304del Single submitter Inborn genetic diseases
p.Ser714Cys Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Thr671Met Single submitter DNMT3A-related disorder ⚠
p.Tyr365_Arg366insAsnLysGlnProMetTyr Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Tyr724= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Tyr735Cys Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Tyr735Ser Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
c.640-1439G>A No assertion criteria DNMT3A-related disorder

Benign 26

c.1122+7G>A Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
c.1280-7C>T Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
c.1430-13C>T Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
c.1554+255A>T Multiple submitters
c.1852-37C>A Multiple submitters
c.2173+26C>T Multiple submitters
c.2322+183C>T Multiple submitters
c.2323-243G>C Multiple submitters
c.2479-159T>C Multiple submitters
c.2597+197C>T Multiple submitters
c.2597+30G>A Multiple submitters
c.448+118G>C Multiple submitters
c.449-153G>C Multiple submitters
c.640-1663G>A Multiple submitters
c.72+10G>A Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
c.73-84A>G Multiple submitters
p.Leu422= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Pro9= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
c.1015-3del Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.177+213C>T Single submitter
c.178-213A>G Single submitter
c.2083-272G>A Single submitter
c.639+125_639+126insG Single submitter
c.640-3791G>A Single submitter
c.640-49del Single submitter
c.-786T>C Single submitter Tatton-Brown-Rahman overgrowth syndrome

Benign/Likely benign 13

c.1279+18G>A Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
c.639+6G>A Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
c.640-3676C>G Multiple submitters
c.-6G>A Multiple submitters
p.Asn717= Multiple submitters Inborn genetic diseases
p.Cys559= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Glu30Ala Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Glu40= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Gly63Ser Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Pro253= Multiple submitters Inborn genetic diseases
p.Pro896= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Ser390= Multiple submitters Inborn genetic diseases
p.Tyr481= Multiple submitters Inborn genetic diseases

Likely benign 448

Showing the top 300 by review status; the full set is in the sitemap.

c.1279+143G>A Multiple submitters
c.2322+118G>A Multiple submitters
c.2597+78T>C Multiple submitters
c.72+9C>T Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Ala17= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Ala269= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Ala353= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Ala380= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Ala398= Multiple submitters Inborn genetic diseases
p.Ala462= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Ala462Val Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala571= Multiple submitters Inborn genetic diseases
p.Ala572= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Ala70= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Ala910= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Arg379= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Arg478= Multiple submitters Inborn genetic diseases
p.Arg544= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Arg887= Multiple submitters Inborn genetic diseases
p.Arg899= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Asn501Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp280= Multiple submitters Inborn genetic diseases
p.Asp286= Multiple submitters Inborn genetic diseases
p.Asp333= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Asp529= Multiple submitters Inborn genetic diseases
p.Asp531= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Asp618= Multiple submitters Inborn genetic diseases
p.Asp876= Multiple submitters Inborn genetic diseases
p.Cys351= Multiple submitters Inborn genetic diseases
p.Cys537= Multiple submitters Inborn genetic diseases
p.Cys549= Multiple submitters Inborn genetic diseases
p.Cys586= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Gln515= Multiple submitters Inborn genetic diseases
p.Gln527= Multiple submitters Inborn genetic diseases
p.Gln615= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Gln886= Multiple submitters Inborn genetic diseases
p.Glu820= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Gly10Arg Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Gly232= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Gly679= Multiple submitters Inborn genetic diseases
p.Gly685= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.His388= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.His613= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Ile495= Multiple submitters Inborn genetic diseases
p.Ile643= Multiple submitters Inborn genetic diseases
p.Ile705= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Leu383= Multiple submitters Inborn genetic diseases
p.Leu411= Multiple submitters Inborn genetic diseases
p.Leu508= Multiple submitters Inborn genetic diseases
p.Leu594= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Leu737= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Leu773= Multiple submitters Inborn genetic diseases
p.Leu883= Multiple submitters Inborn genetic diseases
p.Lys744= Multiple submitters Inborn genetic diseases
p.Phe331= Multiple submitters Inborn genetic diseases
p.Phe384= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Phe414= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Phe609= Multiple submitters Inborn genetic diseases
p.Pro186= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Pro233= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Pro264= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Pro507= Multiple submitters Inborn genetic diseases
p.Pro569= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Pro620= Multiple submitters Inborn genetic diseases
p.Pro633= Multiple submitters Inborn genetic diseases
p.Pro777= Multiple submitters Inborn genetic diseases
p.Pro799= Multiple submitters Inborn genetic diseases
p.Pro804= Multiple submitters Inborn genetic diseases
p.Ser255= Multiple submitters Inborn genetic diseases
p.Ser267= Multiple submitters Inborn genetic diseases
p.Ser349= Multiple submitters Inborn genetic diseases
p.Ser663= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Ser6Ala Multiple submitters Inborn genetic diseases
p.Ser770= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Ser881= Multiple submitters Inborn genetic diseases
p.Ser894= Multiple submitters Inborn genetic diseases
p.Thr316= Multiple submitters Inborn genetic diseases
p.Thr358= Multiple submitters Inborn genetic diseases
p.Thr437= Multiple submitters Inborn genetic diseases
p.Thr44Met Multiple submitters Inborn genetic diseases ⚠
p.Thr461= Multiple submitters Inborn genetic diseases
p.Thr671= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Thr727= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Thr835= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Thr875= Multiple submitters Inborn genetic diseases
p.Tyr284= Multiple submitters Inborn genetic diseases
p.Tyr370= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Tyr448= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Tyr528= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Tyr592= Multiple submitters Inborn genetic diseases
p.Val220= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Val258= Multiple submitters Inborn genetic diseases
p.Val339= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Val341= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Val372= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Val435= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Val867= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
c.1014+19C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1015-20G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1015-4C>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1015-6C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1015-8C>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1015-9T>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1122+15T>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1122+17G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1122+9C>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1122+9C>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1123-10C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1123-12G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1123-14G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1123-15C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1123-4C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1123-9A>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1279+11G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1279+13A>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1429+16C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1429+17T>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1430-14T>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1474+19A>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1475-19C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1475-4C>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1554+12C>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1555-13C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1555-8C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1667+16C>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1668-12G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1668-15T>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.177+10A>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.177+339C>T Single submitter
c.178-300G>A Single submitter
c.1851+12G>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1851+19G>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1851+20C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1852-20C>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1852-5C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1852-9A>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1936+10G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1936+14G>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1936+8G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2082+10T>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2082+20C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2083-19G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2083-19G>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2083-20C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2083-7C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2173+18C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2174-10G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2174-11C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2174-19T>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2323-16G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2323-17C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2323-19dup Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2408+12C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2408+14C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2408+223T>C Single submitter
c.2409-127G>C Single submitter
c.2409-172C>T Single submitter
c.2409-253C>T Single submitter
c.2409-290T>C Single submitter
c.2478+12C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2478+13G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2479-10C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2479-15C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2479-258dup Single submitter
c.2597+12G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2597+12G>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2597+15C>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2597+7G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2598-62G>A Single submitter
c.2598-7C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.448+104G>A Single submitter
c.448+20G>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.448+48C>A Single submitter
c.448+7C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.449-17T>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.492+13C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.492+55G>C Single submitter
c.493-111G>T Single submitter
c.493-14T>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.493-15G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.493-171C>G Single submitter
c.493-17C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.493-181dup Single submitter
c.639+15G>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.639+19T>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.639+7C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.640-10G>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.640-155T>C Single submitter
c.640-17G>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.640-3916G>T Single submitter
c.640-5C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.72+10G>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.72+162G>A Single submitter
c.73-18C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.73-234G>C Single submitter
c.73-8G>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.855+7G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.856-14C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.856-4C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.856-7G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.856-7G>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.-177-158G>A Single submitter
p.Ala149Val Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Ala192= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Ala222= Single submitter Inborn genetic diseases
p.Ala242= Single submitter Inborn genetic diseases
p.Ala376= Single submitter Inborn genetic diseases
p.Ala445= Single submitter Inborn genetic diseases
p.Ala449= Single submitter Inborn genetic diseases
p.Ala525= Single submitter Inborn genetic diseases
p.Ala574= Single submitter Inborn genetic diseases
p.Ala662= Single submitter Inborn genetic diseases
p.Ala719= Single submitter Inborn genetic diseases
p.Ala741= Single submitter Inborn genetic diseases
p.Ala79= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Ala791= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Ala806= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Ala884= Single submitter Inborn genetic diseases
p.Ala903= Single submitter Inborn genetic diseases
p.Arg203= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Arg23Ter Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Arg309= Single submitter Inborn genetic diseases
p.Arg326= Single submitter Inborn genetic diseases
p.Arg366= Single submitter Inborn genetic diseases
p.Arg556= Single submitter Inborn genetic diseases
p.Arg604= Single submitter Inborn genetic diseases
p.Arg631= Single submitter Inborn genetic diseases
p.Arg635= Single submitter Inborn genetic diseases
p.Arg720= Single submitter Inborn genetic diseases
p.Arg736= Single submitter Inborn genetic diseases
p.Arg882= Single submitter Inborn genetic diseases
p.Arg891= Single submitter Inborn genetic diseases
p.Asn360= Single submitter Inborn genetic diseases
p.Asn403= Single submitter Inborn genetic diseases
p.Asn501= Single submitter Inborn genetic diseases
p.Asn853= Single submitter Inborn genetic diseases
p.Asn90= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Asp194= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Asp25= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Asp279= Single submitter Inborn genetic diseases
p.Asp391= Single submitter Inborn genetic diseases
p.Asp492= Single submitter Inborn genetic diseases
p.Asp530= Single submitter Inborn genetic diseases
p.Asp652= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Asp686= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Asp712= Single submitter Inborn genetic diseases
p.Asp748= Single submitter Inborn genetic diseases
p.Cys136= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Cys494= Single submitter Inborn genetic diseases
p.Cys818= Single submitter Inborn genetic diseases
p.Gln100= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gln248= Single submitter Inborn genetic diseases
p.Gln415= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gln678= Single submitter Inborn genetic diseases
p.Gln80= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gln846= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Glu103= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Glu215= Single submitter Inborn genetic diseases
p.Glu228= Single submitter Inborn genetic diseases
p.Glu235= Single submitter Inborn genetic diseases
p.Glu241= Single submitter Inborn genetic diseases
p.Glu263= Single submitter Inborn genetic diseases
p.Glu283= Single submitter Inborn genetic diseases
p.Glu371= Single submitter Inborn genetic diseases
p.Glu392= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Glu427Val Single submitter autism spectrum disorder ⚠
p.Glu523= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Glu745= Single submitter Inborn genetic diseases
p.Glu784= Single submitter Inborn genetic diseases
p.Glu94= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly108= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly112= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly223= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly266= Single submitter Inborn genetic diseases
p.Gly317= Single submitter Inborn genetic diseases
p.Gly324= Single submitter Inborn genetic diseases
p.Gly332= Single submitter Inborn genetic diseases
p.Gly334= Single submitter Inborn genetic diseases
p.Gly412= Single submitter Inborn genetic diseases
p.Gly413= Single submitter Inborn genetic diseases
p.Gly421= Single submitter Inborn genetic diseases
p.Gly532= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly542= Single submitter Inborn genetic diseases
p.Gly570= Single submitter Inborn genetic diseases
p.Gly593= Single submitter Inborn genetic diseases
p.Gly646= Single submitter Inborn genetic diseases
p.Gly699= Single submitter Inborn genetic diseases
p.Gly706= Single submitter Inborn genetic diseases
p.Gly707= Single submitter Inborn genetic diseases
p.Gly722= Single submitter Inborn genetic diseases
p.Gly728= Single submitter Inborn genetic diseases
p.Gly83= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly890= Single submitter Inborn genetic diseases
p.His506= Single submitter Inborn genetic diseases
p.His873= Single submitter Inborn genetic diseases
p.Ile158= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Ile471= Single submitter Inborn genetic diseases
p.Ile493= Single submitter Inborn genetic diseases
p.Ile661= Single submitter Inborn genetic diseases
p.Ile695= Single submitter Inborn genetic diseases

Uncertain significance 481

Showing the top 300 by review status; the full set is in the sitemap.

c.2082+3A>G Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
c.448+48C>G Multiple submitters Inborn genetic diseases
p.Ala246Thr Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala380Thr Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala449Thr Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala70Val Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala910Val Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg169Trp Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg19Trp Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg23Gln Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg33Cys Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg33His Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg379Cys Multiple submitters DNMT3A-related disorder ⚠
p.Arg38His Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg544His Multiple submitters Inborn genetic diseases ⚠
p.Arg55His Multiple submitters DNMT3A-related disorder ⚠
p.Arg596Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg676Gln Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg688Cys Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg729Trp Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg96Gln Multiple submitters acute myeloid leukemia ⚠
p.Asn489His Multiple submitters Inborn genetic diseases ⚠
p.Asp280Asn Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Cys911Tyr Multiple submitters Heyn-Sproul-Jackson syndrome ⚠
p.Glu241Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu285= Multiple submitters Tatton-Brown-Rahman overgrowth syndrome
p.Glu30Gly Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Glu427Gly Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Glu469Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu482Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu725= Multiple submitters
p.Gly108Arg Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Gly278Asp Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Gly587Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile490Thr Multiple submitters DNMT3A-related disorder ⚠
p.Lys219Arg Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Lys632Arg Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Met161Val Multiple submitters DNMT3A-related disorder ⚠
p.Met78Thr Multiple submitters Inborn genetic diseases ⚠
p.Phe732del Multiple submitters DNMT3A-related disorder
p.Pro233Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro244His Multiple submitters Inborn genetic diseases ⚠
p.Pro244Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro245Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro569Leu Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Pro89Ser Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ser236Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser77Phe Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Thr124Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr835Met Multiple submitters ⚠
p.Trp581Cys Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Val372Ile Multiple submitters Inborn genetic diseases ⚠
p.Val435Ala Multiple submitters Inborn genetic diseases ⚠
p.Val467Ile Multiple submitters Inborn genetic diseases ⚠
p.Val687Ile Multiple submitters Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Val690Ile Multiple submitters Inborn genetic diseases ⚠
c.1015-3C>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1015-3C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1122+3G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1123-2A>G Single submitter
c.1474+4A>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1555-10T>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1555-37_1555-18del Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1555-3T>C Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1667+3G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1667+5G>A Single submitter
c.178-7T>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.178-9C>G Single submitter
c.1936+3G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.1937-18_1937-17delinsTC Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2083-15C>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2173+3A>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2174-7C>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2597+3A>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.2598-1G>A Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.448+40C>A Single submitter
c.448+8C>G Single submitter
c.449-4A>G Single submitter
c.492+61C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.639+5G>A Single submitter
c.640-1408T>A Single submitter DNMT3A-related disorder
c.640-1461C>T Single submitter Inborn genetic diseases
c.640-3659G>A Single submitter DNMT3A-related disorder
c.640-3749G>A Single submitter DNMT3A-related disorder
c.640-3760T>C Single submitter DNMT3A-related disorder
c.640-3826_640-3798del Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.72+4A>G Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.855+2T>C Single submitter acute myeloid leukemia
c.855+6C>T Single submitter Tatton-Brown-Rahman overgrowth syndrome
c.-4C>T Single submitter
p.Ala122Pro Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala122Thr Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala149= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Ala149Thr Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala17Val Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala226Thr Single submitter Inborn genetic diseases ⚠
p.Ala269Gly Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala353Thr Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala353Val Single submitter ⚠
p.Ala357Thr Single submitter Inborn genetic diseases ⚠
p.Ala368Thr Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala376Asp Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala398Gly Single submitter Inborn genetic diseases ⚠
p.Ala3Thr Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala445Thr Single submitter Heyn-Sproul-Jackson syndrome ⚠
p.Ala449Ser Single submitter Inborn genetic diseases ⚠
p.Ala449Val Single submitter Inborn genetic diseases ⚠
p.Ala462Glu Single submitter ⚠
p.Ala571Thr Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala572Pro Single submitter ⚠
p.Ala574Thr Single submitter ⚠
p.Ala574Val Single submitter Inborn genetic diseases ⚠
p.Ala610Gly Single submitter ⚠
p.Ala610Val Single submitter Inborn genetic diseases ⚠
p.Ala79Thr Single submitter ⚠
p.Ala806Thr Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala825Val Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala84Thr Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala903Pro Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ala903Ser Single submitter Inborn genetic diseases ⚠
p.Arg130Gly Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg130Ile Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg143Gln Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg169Leu Single submitter ⚠
p.Arg183Trp Single submitter ⚠
p.Arg19Gln Single submitter intellectual disability ⚠
p.Arg209Cys Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg209Gly Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg209His Single submitter ⚠
p.Arg288Gln Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg288Trp Single submitter ⚠
p.Arg309Cys Single submitter ⚠
p.Arg309Pro Single submitter Inborn genetic diseases ⚠
p.Arg318Gln Single submitter ⚠
p.Arg326Cys Single submitter ⚠
p.Arg379His Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg38Cys Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg38Leu Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg458Leu Single submitter Inborn genetic diseases ⚠
p.Arg458Trp Single submitter Inborn genetic diseases ⚠
p.Arg46Gln Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg474Cys Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg474His Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg476Gly Single submitter Inborn genetic diseases ⚠
p.Arg476Lys Single submitter Inborn genetic diseases ⚠
p.Arg488Gln Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg488Trp Single submitter Inborn genetic diseases ⚠
p.Arg50Gln Single submitter ⚠
p.Arg50Trp Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg53Lys Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg556Ser Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg55Cys Single submitter ⚠
p.Arg596Leu Single submitter ⚠
p.Arg597Gln Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg604Pro Single submitter Inborn genetic diseases ⚠
p.Arg604Trp Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg631Ser Single submitter Inborn genetic diseases ⚠
p.Arg659Cys Single submitter ⚠
p.Arg676Trp Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg749Ser Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Arg771Leu Single submitter Inborn genetic diseases ⚠
p.Arg792Cys Single submitter ⚠
p.Arg866Ser Single submitter ⚠
p.Arg885Thr Single submitter Inborn genetic diseases ⚠
p.Arg899Cys Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Asn225Ser Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Asn230Lys Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Asn273Asp Single submitter Inborn genetic diseases ⚠
p.Asn360del Single submitter
p.Asn403Ser Single submitter Inborn genetic diseases ⚠
p.Asn430Lys Single submitter Inborn genetic diseases ⚠
p.Asn430Ser Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Asn489Thr Single submitter Inborn genetic diseases ⚠
p.Asn501Ile Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Asn516Thr Single submitter Inborn genetic diseases ⚠
p.Asn611Lys Single submitter Inborn genetic diseases ⚠
p.Asn776Ser Single submitter ⚠
p.Asn776Thr Single submitter ⚠
p.Asn797Ser Single submitter neurodevelopmental disorder ⚠
p.Asn802Ser Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Asn810Ser Single submitter Inborn genetic diseases ⚠
p.Asn90Ser Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Asp11Asn Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Asp22Asn Single submitter ⚠
p.Asp271Gly Single submitter Inborn genetic diseases ⚠
p.Asp280Glu Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Asp280Tyr Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Asp389Asn Single submitter ⚠
p.Asp391Asn Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Asp438Gly Single submitter Inborn genetic diseases ⚠
p.Asp530Asn Single submitter ⚠
p.Asp531Asn Single submitter ⚠
p.Asp531del Single submitter
p.Asp531His Single submitter Inborn genetic diseases ⚠
p.Asp564Glu Single submitter Inborn genetic diseases ⚠
p.Asp600Tyr Single submitter Inborn genetic diseases ⚠
p.Asp614Asn Single submitter ⚠
p.Asp64Val Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Asp68Gly Single submitter ⚠
p.Asp702Asn Single submitter ⚠
p.Asp845Glu Single submitter Inborn genetic diseases ⚠
p.Asp876Asn Single submitter DNMT3A-related disorder ⚠
p.Cys340Gly Single submitter Inborn genetic diseases ⚠
p.Cys487Arg Single submitter Inborn genetic diseases ⚠
p.Cys497Ser Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Cys514Gly Single submitter Inborn genetic diseases ⚠
p.Cys517Gly Single submitter Inborn genetic diseases ⚠
p.Cys517Tyr Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Cys537Arg Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Cys549Trp Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Cys559Arg Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Cys586Tyr Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Cys666Trp Single submitter Inborn genetic diseases ⚠
p.Cys710Tyr Single submitter ⚠
p.Gln110Glu Single submitter ⚠
p.Gln237Arg Single submitter Inborn genetic diseases ⚠
p.Gln248His Single submitter Inborn genetic diseases ⚠
p.Gln249His Single submitter Inborn genetic diseases ⚠
p.Gln402Glu Single submitter Inborn genetic diseases ⚠
p.Gln415Leu Single submitter Inborn genetic diseases ⚠
p.Gln485Lys Single submitter Inborn genetic diseases ⚠
p.Gln485Pro Single submitter Inborn genetic diseases ⚠
p.Gln534Ter Single submitter
p.Gln573Arg Single submitter Inborn genetic diseases ⚠
p.Gln573His Single submitter Inborn genetic diseases ⚠
p.Gln606Arg Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Gln615Ter Single submitter
p.Gln692His Single submitter ⚠
p.Gln816Glu Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Gln816His Single submitter Inborn genetic diseases ⚠
p.Glu123Gln Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Glu123Lys Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Glu152Gly Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Glu159Lys Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Glu215Asp Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Glu241Lys Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Glu40Asp Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Glu426Lys Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Glu434Gln Single submitter ⚠
p.Glu473Asp Single submitter Inborn genetic diseases ⚠
p.Glu561Lys Single submitter ⚠
p.Glu578Gln Single submitter Inborn genetic diseases ⚠
p.Glu599Ala Single submitter Inborn genetic diseases ⚠
p.Glu697Asp Single submitter Inborn genetic diseases ⚠
p.Glu725Lys Single submitter ⚠
p.Glu745Asp Single submitter Inborn genetic diseases ⚠
p.Glu774Lys Single submitter ⚠
p.Glu86Gly Single submitter ⚠
p.Gly104Trp Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Gly108Ala Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Gly112Ser Single submitter ⚠
p.Gly232Arg Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Gly234Arg Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Gly278= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly287Asp Single submitter Inborn genetic diseases ⚠
p.Gly298Glu Single submitter ⚠
p.Gly334Ser Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Gly381Arg Single submitter Inborn genetic diseases ⚠
p.Gly49= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly512Glu Single submitter ⚠
p.Gly542Arg Single submitter Inborn genetic diseases ⚠
p.Gly587Glu Single submitter ⚠
p.Gly587Trp Single submitter ⚠
p.Gly590Ala Single submitter Inborn genetic diseases ⚠
p.Gly593Glu Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Gly646Arg Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Gly673Ser Single submitter ⚠
p.Gly685Arg Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Gly728Asp Single submitter Inborn genetic diseases ⚠
p.Gly800= Single submitter Tatton-Brown-Rahman overgrowth syndrome
p.Gly800Cys Single submitter Inborn genetic diseases ⚠
p.Gly800Ser Single submitter ⚠
p.Gly83Asp Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.His355Tyr Single submitter ⚠
p.His388Arg Single submitter Inborn genetic diseases ⚠
p.His588Asn Single submitter Inborn genetic diseases ⚠
p.His677Tyr Single submitter ⚠
p.His694Tyr Single submitter ⚠
p.Ile221Thr Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ile221Val Single submitter Inborn genetic diseases ⚠
p.Ile310Val Single submitter ⚠
p.Ile471Met Single submitter Inborn genetic diseases ⚠
p.Ile471Val Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ile576Asn Single submitter Inborn genetic diseases ⚠
p.Ile576Val Single submitter Inborn genetic diseases ⚠
p.Ile634Met Single submitter Inborn genetic diseases ⚠
p.Ile634Thr Single submitter ⚠
p.Ile661Val Single submitter ⚠
p.Ile670Thr Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Ile705Met Single submitter Inborn genetic diseases ⚠
p.Ile705Ser Single submitter ⚠
p.Ile705Thr Single submitter ⚠
p.Ile780Thr Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Leu125Pro Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Leu125Val Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Leu300Pro Single submitter ⚠
p.Leu344Pro Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Leu383Pro Single submitter Tatton-Brown-Rahman overgrowth syndrome ⚠
p.Leu411Gln Single submitter Inborn genetic diseases ⚠
p.Leu479Gln Single submitter Inborn genetic diseases ⚠