Sugi Variant

Sugi Variant/MED12

MED12 — 2153 ClinVar variants

All ClinVar germline MED12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 810 flagged for review →

25 Pathogenic · 12 Pathogenic/Likely pathogenic · 55 Likely pathogenic · 134 Conflicting · 105 Benign · 102 Benign/Likely benign · 833 Likely benign · 887 Uncertain significance

Full MED12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 810

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 18

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

Predictors agree, ClinVar conflicts 71

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

Predicted LoF vs a conflicting call 1

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 448

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 448

Predictors split 272

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 272

All MED12 variants

Pathogenic 25

  • p.Arg1295His Multiple submitters FG syndrome
  • p.Gln1495fs Multiple submitters cholestasis-pigmentary retinopathy-cleft palate syndrome
  • p.Gln1974Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1249-1G>C Single submitter FG syndrome 1
  • c.1924_1974+17dup Single submitter FG syndrome
  • p.Arg1709Ter Single submitter
  • p.Asp1164fs Single submitter FG syndrome
  • p.Gln2057Ter Single submitter cholestasis-pigmentary retinopathy-cleft palate syndrome
  • p.Gln2110Ter Single submitter MED12-Related Disorders
  • p.Gln2115Ter Single submitter cholestasis-pigmentary retinopathy-cleft palate syndrome
  • p.Gln2118Ter Single submitter blepharophimosis - intellectual disability syndrome, MKB type
  • p.Gln742Ter Single submitter cholestasis-pigmentary retinopathy-cleft palate syndrome
  • p.Glu172Gln Single submitter MED12-related intellectual disability syndrome ⚠
  • p.Ser1044fs Single submitter X-linked intellectual disability with marfanoid habitus
  • p.Thr615fs Single submitter cholestasis-pigmentary retinopathy-cleft palate syndrome
  • p.Trp1291Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Trp158Ter Single submitter
  • p.Tyr1898fs Single submitter MED12-Related Disorders
  • p.Tyr1936Ter Single submitter
  • p.Val1714fs Single submitter
  • p.His1729Asn No assertion criteria blepharophimosis - intellectual disability syndrome, MKB type ⚠
  • p.Ser1165Pro No assertion criteria blepharophimosis - intellectual disability syndrome, MKB type ⚠
  • p.Trp1704Ter No assertion criteria cholestasis-pigmentary retinopathy-cleft palate syndrome
  • p.Tyr1874Ter No assertion criteria cholestasis-pigmentary retinopathy-cleft palate syndrome
  • p.Val1635fs No assertion criteria cholestasis-pigmentary retinopathy-cleft palate syndrome

Pathogenic/Likely pathogenic 12

Likely pathogenic 55

Conflicting classifications of pathogenicity 134

Benign 105

Benign/Likely benign 102

  • c.1101+18C>T Multiple submitters FG syndrome
  • c.1974+15C>T Multiple submitters X-linked intellectual disability with marfanoid habitus
  • c.1975-5C>T Multiple submitters FG syndrome
  • c.204+12_204+13del Multiple submitters FG syndrome
  • c.205-38C>T Multiple submitters blepharophimosis - intellectual disability syndrome, MKB type
  • c.2372-9C>T Multiple submitters FG syndrome
  • c.2422+16C>A Multiple submitters FG syndrome
  • c.2981+13G>A Multiple submitters FG syndrome
  • c.3355-16C>G Multiple submitters FG syndrome
  • c.3355-8dup Multiple submitters FG syndrome
  • c.397-12A>T Multiple submitters FG syndrome
  • c.4416-15T>C Multiple submitters FG syndrome
  • c.4416-48T>C Multiple submitters
  • c.4528-19T>C Multiple submitters FG syndrome
  • c.4727+17C>T Multiple submitters FG syndrome
  • c.4863+15C>T Multiple submitters FG syndrome
  • c.5400+7G>A Multiple submitters FG syndrome
  • c.5401-25C>T Multiple submitters
  • c.554-16T>A Multiple submitters FG syndrome
  • c.5748+16G>T Multiple submitters FG syndrome
  • c.5749-15C>T Multiple submitters FG syndrome
  • c.5827-15C>T Multiple submitters FG syndrome
  • c.6491-20T>C Multiple submitters FG syndrome
  • c.736-14C>G Multiple submitters FG syndrome
  • p.Ala107= Multiple submitters FG syndrome
  • p.Ala1233= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1433= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1617= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1904= Multiple submitters FG syndrome
  • p.Ala1904Val Multiple submitters FG syndrome
  • p.Arg1792= Multiple submitters FG syndrome
  • p.Arg251= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn1372Ser Multiple submitters FG syndrome
  • p.Asn1845= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn61= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1522= Multiple submitters FG syndrome
  • p.Asp828= Multiple submitters FG syndrome
  • p.Cys1203= Multiple submitters FG syndrome
  • p.Cys444= Multiple submitters FG syndrome
  • p.Gln128= Multiple submitters blepharophimosis - intellectual disability syndrome, MKB type
  • p.Gln2001= Multiple submitters FG syndrome
  • p.Gln2067= Multiple submitters FG syndrome
  • p.Gln2075_Gln2076dup Multiple submitters FG syndrome
  • p.Gly1265= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1837= Multiple submitters FG syndrome
  • p.Gly1884Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1887Ser Multiple submitters FG syndrome
  • p.Gly1937Ser Multiple submitters FG syndrome
  • p.Gly1958Ala Multiple submitters FG syndrome 1
  • p.Gly57= Multiple submitters FG syndrome
  • p.Gly916= Multiple submitters FG syndrome
  • p.His2116_Gln2119dup Multiple submitters FG syndrome
  • p.His318= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His380= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile1004= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile1215= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile1347= Multiple submitters FG syndrome
  • p.Ile1387= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile320Leu Multiple submitters FG syndrome
  • p.Ile565= Multiple submitters FG syndrome
  • p.Ile926= Multiple submitters FG syndrome
  • p.Leu146= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu1475= Multiple submitters FG syndrome
  • p.Leu1730= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu1756Pro Multiple submitters FG syndrome
  • p.Leu2142= Multiple submitters FG syndrome
  • p.Leu371= Multiple submitters FG syndrome
  • p.Leu598= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu907= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1453= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys389= Multiple submitters FG syndrome
  • p.Met1865Val Multiple submitters FG syndrome
  • p.Pro1068= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro1183= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro1371Ser Multiple submitters FG syndrome
  • p.Pro868= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser1127= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser1161= Multiple submitters FG syndrome
  • p.Ser1314= Multiple submitters blepharophimosis - intellectual disability syndrome, MKB type
  • p.Ser1393= Multiple submitters FG syndrome
  • p.Ser1701= Multiple submitters FG syndrome
  • p.Ser1925= Multiple submitters FG syndrome
  • p.Ser1935= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser652= Multiple submitters FG syndrome
  • p.Ser962= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr1003= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr1037= Multiple submitters FG syndrome
  • p.Thr1413Asn Multiple submitters FG syndrome
  • p.Thr1555= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr1650= Multiple submitters FG syndrome
  • p.Thr1830= Multiple submitters FG syndrome
  • p.Thr2013Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr2024= Multiple submitters FG syndrome
  • p.Thr236= Multiple submitters FG syndrome
  • p.Thr302= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr327= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr344Asn Multiple submitters FG syndrome
  • p.Thr390= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr734= Multiple submitters FG syndrome
  • p.Val1119= Multiple submitters FG syndrome
  • p.Val312Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val462= Multiple submitters FG syndrome

Likely benign 833

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

Uncertain significance 887

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