Sugi Variant

Sugi Variant/SLX4

SLX4 — 2565 ClinVar variants

All ClinVar germline SLX4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1378 flagged for review →

89 Pathogenic · 25 Pathogenic/Likely pathogenic · 43 Likely pathogenic · 135 Conflicting · 48 Benign · 60 Benign/Likely benign · 721 Likely benign · 1444 Uncertain significance

Full SLX4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1378

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 84

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

Predictors lean, ClinVar uncertain 1188

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 1188

Predictors split 106

The independent predictors disagree with each other — read with care.

All SLX4 variants

Pathogenic 89

Pathogenic/Likely pathogenic 25

  • c.1163+2dup Multiple submitters Fanconi anemia
  • p.Ala376fs Multiple submitters Fanconi anemia
  • p.Ala938fs Multiple submitters Fanconi anemia complementation group P
  • p.Arg1299fs Multiple submitters Fanconi anemia complementation group P
  • p.Arg1666Ter Multiple submitters Fanconi anemia
  • p.Arg481Ter Multiple submitters Fanconi anemia
  • p.Arg713Ter Multiple submitters Fanconi anemia complementation group P
  • p.Asp1365fs Multiple submitters SLX4-related disorder
  • p.Gln1201Ter Multiple submitters Fanconi anemia
  • p.Gln1386Ter Multiple submitters Fanconi anemia complementation group P
  • p.Gln187Ter Multiple submitters Fanconi anemia
  • p.Gln377Ter Multiple submitters Fanconi anemia
  • p.Glu1613Ter Multiple submitters Fanconi anemia
  • p.Glu36Ter Multiple submitters Fanconi anemia
  • p.Gly142fs Multiple submitters Fanconi anemia complementation group P
  • p.Leu373fs Multiple submitters Fanconi anemia
  • p.Lys1588Ter Multiple submitters Fanconi anemia
  • p.Pro1207fs Multiple submitters Fanconi anemia complementation group P
  • p.Ser1363Ter Multiple submitters Fanconi anemia complementation group A
  • p.Ser1508Ter Multiple submitters Fanconi anemia complementation group P
  • p.Ser1608Ter Multiple submitters SLX4-related disorder
  • p.Ser287fs Multiple submitters Fanconi anemia complementation group P
  • p.Ser795Ter Multiple submitters Fanconi anemia
  • p.Trp1428Ter Multiple submitters Fanconi anemia complementation group P
  • p.Trp823Ter Multiple submitters Fanconi anemia complementation group P

Likely pathogenic 43

Conflicting classifications of pathogenicity 135

Benign 48

Benign/Likely benign 60

  • c.1163+10C>T Multiple submitters Fanconi anemia complementation group P
  • c.1366+11T>C Multiple submitters Fanconi anemia
  • c.1924+19C>A Multiple submitters Fanconi anemia
  • c.1925-13A>T Multiple submitters Fanconi anemia
  • c.1925-30G>A Multiple submitters
  • c.2328-9G>C Multiple submitters Fanconi anemia complementation group P
  • c.-104A>G Multiple submitters Fanconi anemia complementation group P
  • c.*8A>G Multiple submitters Fanconi anemia complementation group P
  • p.Ala1221Val Multiple submitters Fanconi anemia
  • p.Ala1286Val Multiple submitters Fanconi anemia complementation group P
  • p.Ala251= Multiple submitters Fanconi anemia
  • p.Ala916Ser Multiple submitters Fanconi anemia complementation group P
  • p.Ala948= Multiple submitters Fanconi anemia complementation group P
  • p.Ala952Met Multiple submitters hereditary neoplastic syndrome
  • p.Ala952Thr Multiple submitters Fanconi anemia
  • p.Ala952Val Multiple submitters Fanconi anemia complementation group P
  • p.Arg1372Gln Multiple submitters Fanconi anemia complementation group P
  • p.Arg1550Trp Multiple submitters Fanconi anemia complementation group P
  • p.Arg204Cys Multiple submitters Fanconi anemia complementation group P
  • p.Arg237Gln Multiple submitters Fanconi anemia complementation group P
  • p.Asn1298= Multiple submitters Fanconi anemia
  • p.Asn1500= Multiple submitters Fanconi anemia
  • p.Asn240Asp Multiple submitters Fanconi anemia complementation group P
  • p.Asn457Lys Multiple submitters Fanconi anemia
  • p.Asp1612= Multiple submitters Fanconi anemia
  • p.Asp185= Multiple submitters Fanconi anemia
  • p.Asp742= Multiple submitters Fanconi anemia
  • p.Asp876= Multiple submitters Fanconi anemia complementation group P
  • p.Gln1082Arg Multiple submitters Fanconi anemia complementation group P
  • p.Glu942Gln Multiple submitters Fanconi anemia complementation group P
  • p.Gly256= Multiple submitters Fanconi anemia
  • p.Gly633Asp Multiple submitters Fanconi anemia complementation group P
  • p.His1290Asn Multiple submitters Fanconi anemia
  • p.His226= Multiple submitters Fanconi anemia
  • p.Ile1195del Multiple submitters Fanconi anemia complementation group P
  • p.Ile333= Multiple submitters Fanconi anemia complementation group P
  • p.Leu671Ser Multiple submitters Fanconi anemia complementation group P
  • p.Lys409= Multiple submitters Fanconi anemia complementation group P
  • p.Met386Val Multiple submitters Fanconi anemia
  • p.Pro1122Leu Multiple submitters Fanconi anemia
  • p.Pro1321= Multiple submitters hereditary neoplastic syndrome
  • p.Pro1356= Multiple submitters Fanconi anemia complementation group P
  • p.Pro1414Leu Multiple submitters Fanconi anemia
  • p.Pro1677Ser Multiple submitters Fanconi anemia complementation group P
  • p.Pro384= Multiple submitters Fanconi anemia complementation group P
  • p.Pro385Thr Multiple submitters hereditary neoplastic syndrome
  • p.Pro585= Multiple submitters hereditary neoplastic syndrome
  • p.Pro929Leu Multiple submitters Fanconi anemia complementation group P
  • p.Pro975Leu Multiple submitters hereditary neoplastic syndrome
  • p.Ser1105= Multiple submitters Fanconi anemia complementation group P
  • p.Ser1254= Multiple submitters Fanconi anemia complementation group P
  • p.Ser1271Phe Multiple submitters Fanconi anemia
  • p.Ser1453= Multiple submitters Fanconi anemia complementation group P
  • p.Ser1716Thr Multiple submitters Fanconi anemia complementation group P
  • p.Ser30= Multiple submitters Fanconi anemia complementation group P
  • p.Ser601= Multiple submitters Fanconi anemia complementation group P
  • p.Ser601Leu Multiple submitters Fanconi anemia complementation group P
  • p.Thr1446= Multiple submitters Fanconi anemia complementation group P
  • p.Tyr546Cys Multiple submitters Fanconi anemia complementation group P
  • p.Val678= Multiple submitters Fanconi anemia complementation group P

Likely benign 721

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

Uncertain significance 1444

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