Sugi Variant

Sugi Variant/ARFGEF2

ARFGEF2 — 850 ClinVar variants

All ClinVar germline ARFGEF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 327 flagged for review →

15 Pathogenic · 13 Likely pathogenic · 48 Conflicting · 80 Benign · 10 Benign/Likely benign · 263 Likely benign · 421 Uncertain significance

Full ARFGEF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 327

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 11

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

Predictors lean, ClinVar uncertain 249

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 249

Predictors split 67

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

All ARFGEF2 variants

Pathogenic 15

  • c.3758-2A>C Single submitter Inborn genetic diseases
  • p.Arg1640Ter Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Arg1752Ter Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Cys437fs Single submitter
  • p.Gln1003Ter Single submitter
  • p.Gln188Ter Single submitter
  • p.Gln358Ter Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Glu1335Ter Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Glu475fs Single submitter
  • p.Glu487Ter Single submitter
  • p.Met498fs Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Phe654fs Single submitter
  • p.Pro880fs Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Val220fs Single submitter hydrocephalus
  • c.1958+1G>A No assertion criteria periventricular heterotopia with microcephaly, autosomal recessive

Likely pathogenic 13

  • c.4050-2A>T Single submitter
  • c.908-2A>G Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Arg941Ter Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Gln1057Ter Single submitter
  • p.Gln1163Ter Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Gln1180Ter Single submitter ARFGEF2-related disorder
  • p.Gln31Ter Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Leu1424fs Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Leu94fs Single submitter ARFGEF2-related disorder
  • p.Pro449_Asp450insTer Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Tyr1632Ter Single submitter
  • p.Val1354fs Single submitter
  • c.4455-1G>A No assertion criteria Periventricular laminar heterotopia

Conflicting classifications of pathogenicity 48

  • c.1190+6C>T Single submitter
  • c.1425+15G>A Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • c.2276+10G>A Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • c.2686-16C>A Single submitter
  • c.2686-9C>T Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • c.2814+15G>C Single submitter
  • c.2815-7G>A Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • c.3758-3del Single submitter Inborn genetic diseases
  • c.4624+6G>T Single submitter
  • c.907+9C>T Single submitter
  • c.*1015C>T Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • c.*140C>T Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Ala1208= Single submitter
  • p.Ala1281= Single submitter
  • p.Ala1444= Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Ala750= Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Ala751= Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Arg1092His Single submitter periventricular heterotopia with microcephaly, autosomal recessive ⚠
  • p.Arg232His Single submitter periventricular heterotopia with microcephaly, autosomal recessive ⚠
  • p.Arg257Lys Single submitter periventricular heterotopia with microcephaly, autosomal recessive ⚠
  • p.Arg344= Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Arg612Trp Single submitter periventricular heterotopia with microcephaly, autosomal recessive ⚠
  • p.Arg802= Single submitter
  • p.Asn1449Thr Single submitter periventricular heterotopia with microcephaly, autosomal recessive ⚠
  • p.Asn443= Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Asp1152= Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Asp1746= Single submitter
  • p.Asp269= Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Asp395= Single submitter
  • p.Gln642= Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Glu209Lys Single submitter periventricular heterotopia with microcephaly, autosomal recessive ⚠
  • p.Glu548= Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Gly1298Ser Single submitter periventricular heterotopia with microcephaly, autosomal recessive ⚠
  • p.His425= Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.His886= Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Ile327Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1040= Single submitter
  • p.Leu1043Phe Single submitter periventricular heterotopia with microcephaly, autosomal recessive ⚠
  • p.Leu1169= Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Leu411= Single submitter
  • p.Pro1519= Single submitter
  • p.Pro271Ala Single submitter periventricular heterotopia with microcephaly, autosomal recessive ⚠
  • p.Pro57Ser Single submitter periventricular heterotopia with microcephaly, autosomal recessive ⚠
  • p.Pro880= Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Ser1059= Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Thr1488Ser Single submitter periventricular heterotopia with microcephaly, autosomal recessive ⚠
  • p.Tyr711= Single submitter periventricular heterotopia with microcephaly, autosomal recessive
  • p.Val630Ile Single submitter Inborn genetic diseases ⚠

Benign 80

Benign/Likely benign 10

  • c.1060-17T>C Multiple submitters
  • c.1425+11C>T Multiple submitters periventricular heterotopia with microcephaly, autosomal recessive
  • c.423+3A>G Multiple submitters periventricular heterotopia with microcephaly, autosomal recessive
  • c.424-17G>A Multiple submitters
  • c.*237A>G Multiple submitters periventricular heterotopia with microcephaly, autosomal recessive
  • p.Asn252= Multiple submitters
  • p.His1404= Multiple submitters
  • p.Phe466= Multiple submitters
  • p.Pro27= Multiple submitters
  • p.Thr504= Multiple submitters

Likely benign 263

Uncertain significance 421

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