Sugi Variant

Sugi Variant/ERCC6L2

ERCC6L2 — 1707 ClinVar variants

All ClinVar germline ERCC6L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

39 Pathogenic · 5 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 21 Conflicting · 13 Benign · 30 Benign/Likely benign · 537 Likely benign · 1040 Uncertain significance

Full ERCC6L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All ERCC6L2 variants

Pathogenic 39

Pathogenic/Likely pathogenic 5

Likely pathogenic 22

  • c.950+2T>G Multiple submitters ERCC6L2-related disorders
  • p.Thr825fs Multiple submitters thrombocytopenia
  • c.1289_1299+9del Single submitter
  • c.1605+2T>C Single submitter ERCC6L2-related disorders
  • c.1948-1G>A Single submitter pancytopenia-developmental delay syndrome
  • c.2182-2A>G Single submitter
  • c.3492+2T>G Single submitter pancytopenia-developmental delay syndrome
  • c.3493-2A>G Single submitter
  • c.-14dup Single submitter ERCC6L2-related disorders
  • p.Arg993fs Single submitter ERCC6L2-related disorders
  • p.Asn1100fs Single submitter ERCC6L2-related disorder
  • p.Asp732fs Single submitter pancytopenia-developmental delay syndrome
  • p.Asp916fs Single submitter pancytopenia-developmental delay syndrome
  • p.Cys1093fs Single submitter pancytopenia-developmental delay syndrome
  • p.Gln481Ter Single submitter
  • p.Glu561fs Single submitter pancytopenia-developmental delay syndrome
  • p.Glu912fs Single submitter Bone marrow hypocellularity
  • p.His1052fs Single submitter ERCC6L2-related disorders
  • p.Lys1132_Ala1133insTer Single submitter ERCC6L2-related disorder
  • p.Lys974fs Single submitter Bone marrow hypocellularity
  • p.Pro721fs Single submitter pancytopenia-developmental delay syndrome
  • p.Ser1362fs Single submitter pancytopenia-developmental delay syndrome

Conflicting classifications of pathogenicity 21

Benign 13

Benign/Likely benign 30

  • c.1413+18C>T Multiple submitters
  • c.2101-7A>G Multiple submitters
  • c.789-4A>G Multiple submitters
  • c.951-18C>G Multiple submitters
  • c.-12C>A Multiple submitters
  • c.-13T>A Multiple submitters
  • c.-15C>T Multiple submitters pancytopenia-developmental delay syndrome
  • c.-1G>T Multiple submitters
  • c.-8C>G Multiple submitters
  • p.Ala1543Thr Multiple submitters pancytopenia-developmental delay syndrome
  • p.Ala460= Multiple submitters pancytopenia-developmental delay syndrome
  • p.Arg1139Gln Multiple submitters
  • p.Asn1432Asp Multiple submitters pancytopenia-developmental delay syndrome
  • p.Asn953Ile Multiple submitters pancytopenia-developmental delay syndrome
  • p.Asp538= Multiple submitters Inborn genetic diseases
  • p.Asp879= Multiple submitters pancytopenia-developmental delay syndrome
  • p.Gln7His Multiple submitters pancytopenia-developmental delay syndrome
  • p.Gly136Glu Multiple submitters
  • p.Leu746Val Multiple submitters pancytopenia-developmental delay syndrome
  • p.Met1468Thr Multiple submitters pancytopenia-developmental delay syndrome
  • p.Phe1534Cys Multiple submitters pancytopenia-developmental delay syndrome
  • p.Pro1184= Multiple submitters pancytopenia-developmental delay syndrome
  • p.Pro1306= Multiple submitters
  • p.Pro3Gln Multiple submitters pancytopenia-developmental delay syndrome
  • p.Ser365= Multiple submitters Inborn genetic diseases
  • p.Thr440= Multiple submitters Inborn genetic diseases
  • p.Thr829Ile Multiple submitters
  • p.Val1160= Multiple submitters pancytopenia-developmental delay syndrome
  • p.Val581Ala Multiple submitters pancytopenia-developmental delay syndrome
  • p.Val937= Multiple submitters pancytopenia-developmental delay syndrome

Likely benign 537

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

Uncertain significance 1040

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