Sugi Variant

Sugi Variant/DDX41

DDX41 — 1304 ClinVar variants

All ClinVar germline DDX41 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 569 flagged for review →

54 Pathogenic · 20 Pathogenic/Likely pathogenic · 44 Likely pathogenic · 96 Conflicting · 26 Benign · 15 Benign/Likely benign · 450 Likely benign · 599 Uncertain significance

Full DDX41 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 569

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 agree, ClinVar conflicts 47

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 290

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 290

Predictors split 230

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 230

All DDX41 variants

Pathogenic 54

  • p.Ala500fs Multiple submitters Inborn genetic diseases
  • p.Arg159Ter Multiple submitters Inborn genetic diseases
  • p.Arg311Ter Multiple submitters focal segmental glomerulosclerosis 9
  • p.Arg53fs Multiple submitters DDX41-related hematologic malignancy predisposition syndrome
  • p.Gln306Ter Multiple submitters
  • p.Gln370Ter Multiple submitters Inborn genetic diseases
  • p.Gln82Ter Multiple submitters Inborn genetic diseases
  • p.Gly465fs Multiple submitters Inborn genetic diseases
  • p.Ile209fs Multiple submitters Inborn genetic diseases
  • p.Lys108fs Multiple submitters Inborn genetic diseases
  • p.Lys381Ter Multiple submitters DDX41-related disorder
  • p.Met1Leu Multiple submitters Inborn genetic diseases
  • p.Met316fs Multiple submitters Inborn genetic diseases
  • p.Ser253Ter Multiple submitters Inborn genetic diseases
  • p.Thr144fs Multiple submitters Inborn genetic diseases
  • p.Thr529fs Multiple submitters Inborn genetic diseases
  • c.1621_1621+10del Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • c.434+1G>T Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Arg124Ter Single submitter Inborn genetic diseases
  • p.Arg22fs Single submitter
  • p.Arg71fs Single submitter Inborn genetic diseases
  • p.Asn397fs Single submitter
  • p.Asp336fs Single submitter
  • p.Cys338fs Single submitter
  • p.Gln109Ter Single submitter Inborn genetic diseases
  • p.Gln272Ter Single submitter
  • p.Gln329fs Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Gln368Ter Single submitter Inborn genetic diseases
  • p.Gln429Ter Single submitter
  • p.Gln64Ter Single submitter Inborn genetic diseases
  • p.Gln92Ter Single submitter Inborn genetic diseases
  • p.Glu113fs Single submitter Inborn genetic diseases
  • p.Glu355Ter Single submitter Inborn genetic diseases
  • p.Glu426fs Single submitter
  • p.Gly67fs Single submitter Inborn genetic diseases
  • p.Ile169fs Single submitter Inborn genetic diseases
  • p.Ile382fs Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Ile520fs Single submitter Inborn genetic diseases
  • p.Leu453fs Single submitter Inborn genetic diseases
  • p.Leu51fs Single submitter Inborn genetic diseases
  • p.Lys130fs Single submitter
  • p.Met1Thr Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Phe183Ile Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Phe385fs Single submitter
  • p.Phe478fs Single submitter
  • p.Thr137fs Single submitter
  • p.Thr214fs Single submitter Inborn genetic diseases
  • p.Trp146Ter Single submitter
  • p.Tyr33fs Single submitter
  • p.Val37fs Single submitter Inborn genetic diseases
  • p.Val491fs Single submitter
  • c.1231-3C>G No assertion criteria DDX41-related hematologic malignancy predisposition syndrome
  • p.Ile240fs No assertion criteria acute myeloid leukemia
  • p.Phe535fs No assertion criteria DDX41-related hematologic malignancy predisposition syndrome

Pathogenic/Likely pathogenic 20

  • c.434+1G>A Multiple submitters DDX41-related hematologic malignancy predisposition syndrome
  • c.434+1G>C Multiple submitters DDX41-related hematologic malignancy predisposition syndrome
  • c.435-2_435-1delinsCA Multiple submitters Inborn genetic diseases
  • c.572-1G>A Multiple submitters Inborn genetic diseases
  • p.Arg369Ter Multiple submitters Inborn genetic diseases
  • p.Asp140delinsGlyTer Multiple submitters Inborn genetic diseases
  • p.Gln41Ter Multiple submitters Inborn genetic diseases
  • p.Gln48Ter Multiple submitters DDX41-related hematologic malignancy predisposition syndrome
  • p.Gln90Ter Multiple submitters DDX41-related hematologic malignancy predisposition syndrome
  • p.Glu268fs Multiple submitters DDX41-related hematologic malignancy predisposition syndrome
  • p.Glu60fs Multiple submitters DDX41-related hematologic malignancy predisposition syndrome
  • p.Gly19Ter Multiple submitters Inborn genetic diseases
  • p.Leu283fs Multiple submitters Inborn genetic diseases
  • p.Lys102fs Multiple submitters DDX41-related hematologic malignancy predisposition syndrome
  • p.Met1Ile Multiple submitters Inborn genetic diseases
  • p.Pro434fs Multiple submitters Inborn genetic diseases
  • p.Pro499fs Multiple submitters Inborn genetic diseases
  • p.Pro78fs Multiple submitters DDX41-related hematologic malignancy predisposition syndrome
  • p.Ser217fs Multiple submitters Inborn genetic diseases
  • p.Ser543Ter Multiple submitters Inborn genetic diseases

Likely pathogenic 44

  • c.1098+2T>G Multiple submitters
  • c.27+1G>A Multiple submitters Inborn genetic diseases
  • c.571+1G>A Multiple submitters Inborn genetic diseases
  • c.935+1G>T Multiple submitters DDX41-related hematologic malignancy predisposition syndrome
  • p.Tyr36Ter Multiple submitters Inborn genetic diseases
  • c.1098+2T>C Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • c.1099-1G>A Single submitter
  • c.1099-3C>G Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • c.1230+1G>T Single submitter
  • c.1230+2T>G Single submitter
  • c.1303-2A>G Single submitter
  • c.1400-1G>A Single submitter
  • c.1621+5G>A Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • c.27+2T>A Single submitter Inborn genetic diseases
  • c.27+2T>G Single submitter Inborn genetic diseases
  • c.298+1G>A Single submitter Inborn genetic diseases
  • c.298+2T>A Single submitter Inborn genetic diseases
  • c.298+2T>G Single submitter Inborn genetic diseases
  • c.373+1G>A Single submitter
  • c.644+1del Single submitter Inborn genetic diseases
  • c.644+1G>A Single submitter Inborn genetic diseases
  • c.936-1G>A Single submitter Inborn genetic diseases
  • p.Ala225Val Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Ala492fs Single submitter
  • p.Arg339Leu Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Arg348fs Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Asn515fs Single submitter DDX41-related disorder
  • p.Asp14fs Single submitter Inborn genetic diseases
  • p.Asp220Tyr Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Gln208Glu Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Glu5Ter Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Gly223Asp Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Ile142fs Single submitter DDX41-related disorder
  • p.Ile192fs Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Leu452fs Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Leu574fs Single submitter
  • p.Met301fs Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Pro179fs Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Tyr259fs Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Tyr340Ser Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Val16fs Single submitter DDX41-related hematologic malignancy predisposition syndrome
  • p.Val34fs Single submitter Inborn genetic diseases
  • c.138+2T>C No assertion criteria DDX41-related disorder
  • p.Gln52Ter No assertion criteria DDX41-related disorder

Conflicting classifications of pathogenicity 96

Benign 26

Benign/Likely benign 15

  • c.139-5C>T Multiple submitters Inborn genetic diseases
  • c.1622-5C>G Multiple submitters Inborn genetic diseases
  • c.*3C>T Multiple submitters
  • c.*74C>T Multiple submitters
  • p.Ala401= Multiple submitters Inborn genetic diseases
  • p.Asp490= Multiple submitters Inborn genetic diseases
  • p.Cys294= Multiple submitters Inborn genetic diseases
  • p.Gln370= Multiple submitters Inborn genetic diseases
  • p.Glu247= Multiple submitters Inborn genetic diseases
  • p.Glu268= Multiple submitters Inborn genetic diseases
  • p.Glu411= Multiple submitters Inborn genetic diseases
  • p.Leu452= Multiple submitters Inborn genetic diseases
  • p.Pro433= Multiple submitters Inborn genetic diseases
  • p.Ser493= Multiple submitters Inborn genetic diseases
  • p.Tyr414= Multiple submitters Inborn genetic diseases

Likely benign 450

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

Uncertain significance 599

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