Sugi Variant

Sugi Variant/ERCC2

ERCC2 — 2154 ClinVar variants

All ClinVar germline ERCC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 884 flagged for review →

71 Pathogenic · 59 Pathogenic/Likely pathogenic · 86 Likely pathogenic · 57 Conflicting · 52 Benign · 17 Benign/Likely benign · 880 Likely benign · 932 Uncertain significance

Full ERCC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 884

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.

Predictors agree, ClinVar conflicts 22

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

Predictors lean, ClinVar uncertain 526

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 526

Predictors split 335

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 335

All ERCC2 variants

Pathogenic 71

Pathogenic/Likely pathogenic 59

  • c.1347_1377+7del Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.1378-1G>T Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.1479+2dup Multiple submitters ERCC2-related disorder
  • c.1479+2T>C Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.1480-1G>C Multiple submitters trichothiodystrophy
  • c.1480-2A>C Multiple submitters xeroderma pigmentosum group D
  • c.1544-1G>T Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.1666-1G>A Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.1666-2A>T Multiple submitters xeroderma pigmentosum group D
  • c.1759-2A>G Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.183+2T>A Multiple submitters trichothiodystrophy 1, photosensitive
  • c.2046+1G>T Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.2190+1del Multiple submitters xeroderma pigmentosum
  • c.2190+1G>T Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.361-1G>A Multiple submitters ERCC2-related disorder
  • c.5+2T>A Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.594+2_594+5del Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.816-2A>G Multiple submitters xeroderma pigmentosum
  • p.Ala717Gly Multiple submitters Autosomal recessive ERCC2-related disorders ⚠
  • p.Ala725Pro Multiple submitters Inborn genetic diseases
  • p.Arg156Ter Multiple submitters trichothiodystrophy 1, photosensitive
  • p.Arg511Gln Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Arg601Leu Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Arg616fs Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Arg616Trp Multiple submitters trichothiodystrophy 1, photosensitive
  • p.Arg636Trp Multiple submitters
  • p.Arg658Cys Multiple submitters trichothiodystrophy 1, photosensitive
  • p.Arg658His Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Arg666Trp Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Arg669fs Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Arg683Trp Multiple submitters hereditary neoplastic syndrome
  • p.Arg88Ter Multiple submitters xeroderma pigmentosum
  • p.Cys190Ter Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Cys259Tyr Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Gln260Ter Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Gln543Ter Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Gln555Ter Multiple submitters xeroderma pigmentosum
  • p.Gln562Ter Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Gln662fs Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Gln698Ter Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Glu638Ter Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Glu66Ter Multiple submitters xeroderma pigmentosum group D
  • p.Gly622fs Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Gly675Arg Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.His729fs Multiple submitters xeroderma pigmentosum group D
  • p.Ile432fs Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Ile456del Multiple submitters xeroderma pigmentosum
  • p.Ile569fs Multiple submitters
  • p.Leu337fs Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Lys671fs Multiple submitters xeroderma pigmentosum group D
  • p.Lys692fs Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Phe568fs Multiple submitters ERCC2-related disorder
  • p.Phe720fs Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Ser578fs Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Ser630fs Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Trp189Ter Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Tyr339Ter Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Tyr625fs Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Val714fs Multiple submitters xeroderma pigmentosum

Likely pathogenic 86

  • c.106-5_142del Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.1238-1G>C Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.1308-2A>G Multiple submitters trichothiodystrophy 1, photosensitive
  • c.1377+1dup Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.1758+1G>A Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.1759-2A>C Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.1832-1G>T Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.184-1_186del Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.2047-13_2048del Multiple submitters trichothiodystrophy 1, photosensitive
  • c.815+1G>A Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.948_949+2delinsCCC Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Ala725Thr Multiple submitters cerebrooculofacioskeletal syndrome 2
  • p.Thr709Pro Multiple submitters cerebrooculofacioskeletal syndrome 2
  • c.105+1G>T Single submitter
  • c.13_105+427del Single submitter
  • c.1307+1G>A Single submitter cerebrooculofacioskeletal syndrome 2
  • c.1377+1G>A Single submitter
  • c.1378-1_1380del Single submitter cerebrooculofacioskeletal syndrome 2
  • c.1378-2A>C Single submitter cerebrooculofacioskeletal syndrome 2
  • c.1480-2A>G Single submitter cerebrooculofacioskeletal syndrome 2
  • c.1543+2_1543+33inv Single submitter cerebrooculofacioskeletal syndrome 2
  • c.1543+2T>A Single submitter cerebrooculofacioskeletal syndrome 2
  • c.1544-7_1552del Single submitter cerebrooculofacioskeletal syndrome 2
  • c.1758+18_1783del Single submitter
  • c.1758+1G>T Single submitter ERCC2-related disorder
  • c.1758+2T>C Single submitter
  • c.1758+2T>G Single submitter xeroderma pigmentosum group D
  • c.1831+1G>C Single submitter trichothiodystrophy 1, photosensitive
  • c.1831+2_1831+13del Single submitter
  • c.1832-2A>C Single submitter cerebrooculofacioskeletal syndrome 2
  • c.184-6_200del Single submitter
  • c.1900_1902+13del Single submitter ERCC2-related disorder
  • c.1902+2T>C Single submitter cerebrooculofacioskeletal syndrome 2
  • c.2046+1G>C Single submitter
  • c.2047-2A>C Single submitter cerebrooculofacioskeletal syndrome 2
  • c.2190+1G>C Single submitter cerebrooculofacioskeletal syndrome 2
  • c.2191-2A>G Single submitter cerebrooculofacioskeletal syndrome 2
  • c.360+1G>A Single submitter
  • c.478-2A>G Single submitter cerebrooculofacioskeletal syndrome 2
  • c.5+1G>A Single submitter
  • c.5+1G>T Single submitter
  • c.5+2T>C Single submitter
  • c.594+2T>C Single submitter
  • c.595-1G>T Single submitter
  • c.718+1G>A Single submitter ERCC2-related disorder
  • c.719-1G>T Single submitter
  • c.91_105+26del Single submitter
  • c.950-3_950-2del Single submitter cerebrooculofacioskeletal syndrome 2
  • c.950-3C>A Single submitter
  • p.Ala600fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Ala667fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Ala717fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Arg658Gly Single submitter trichothiodystrophy 1, photosensitive
  • p.Asp131Ter Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Asp673fs Single submitter trichothiodystrophy 1, photosensitive
  • p.Cys134Ter Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Cys663Arg Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Gln187Ter Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Gln363fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Gln643Ter Single submitter
  • p.Gln726Ter Single submitter trichothiodystrophy 1, photosensitive
  • p.Glu20fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Glu27Ter Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Glu546Lys Single submitter trichothiodystrophy
  • p.Glu86Ter Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Gly670= Single submitter xeroderma pigmentosum group D
  • p.His434fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Leu109fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Lys128fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Lys603fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Phe539fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Phe651fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Phe654fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Pro320fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Ser140fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Thr150fs Single submitter trichothiodystrophy 1, photosensitive
  • p.Thr460fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Thr46fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Thr653_Phe654insAspSerTer Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Trp342fs Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Trp552Ter Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Trp696Ter Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Tyr211Ter Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Tyr584Ter Single submitter cerebrooculofacioskeletal syndrome 2
  • p.Val447fs Single submitter
  • p.Val604fs Single submitter cerebrooculofacioskeletal syndrome 2

Conflicting classifications of pathogenicity 57

Benign 52

Benign/Likely benign 17

  • c.1238-1155C>G Multiple submitters
  • c.1832-6C>T Multiple submitters xeroderma pigmentosum
  • c.718+6G>T Multiple submitters xeroderma pigmentosum group D
  • p.Ala139= Multiple submitters Inborn genetic diseases
  • p.Ala229= Multiple submitters xeroderma pigmentosum
  • p.Asp129= Multiple submitters xeroderma pigmentosum group D
  • p.Asp312Asn Multiple submitters trichothiodystrophy 1, photosensitive
  • p.Asp422= Multiple submitters xeroderma pigmentosum
  • p.Glu95Gly Multiple submitters xeroderma pigmentosum group D ⚠
  • p.Glu98Asp Multiple submitters xeroderma pigmentosum
  • p.Leu9= Multiple submitters Inborn genetic diseases
  • p.Lys751Gln Multiple submitters trichothiodystrophy 1, photosensitive
  • p.Phe233= Multiple submitters xeroderma pigmentosum
  • p.Tyr211= Multiple submitters xeroderma pigmentosum
  • p.Tyr544= Multiple submitters xeroderma pigmentosum
  • p.Tyr614= Multiple submitters Inborn genetic diseases
  • p.Val579= Multiple submitters Inborn genetic diseases

Likely benign 880

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

Uncertain significance 932

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