Sugi Variant

Sugi Variant/AIP

AIP — 1043 ClinVar variants

All ClinVar germline AIP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 559 flagged for review →

50 Pathogenic · 2 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 61 Conflicting · 13 Benign · 6 Benign/Likely benign · 316 Likely benign · 579 Uncertain significance

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

⚑ Evidence disagreements 559

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 21

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

Predictors lean, ClinVar uncertain 264

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 264

Predictors split 274

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 274

All AIP variants

Pathogenic 50

Pathogenic/Likely pathogenic 2

Likely pathogenic 16

  • p.Cys238Tyr Multiple submitters hereditary neoplastic syndrome
  • c.787+1G>A Single submitter hereditary neoplastic syndrome
  • c.788-1G>C Single submitter hereditary neoplastic syndrome
  • c.99+1G>A Single submitter
  • c.99+1G>T Single submitter
  • p.Gln282fs Single submitter growth hormone secreting pituitary adenoma 1
  • p.Lys112fs Single submitter
  • p.Met1Arg Single submitter hereditary neoplastic syndrome
  • p.Met1del Single submitter hereditary neoplastic syndrome
  • p.Met1Ile Single submitter familial isolated pituitary adenoma
  • p.Met1Val Single submitter hereditary neoplastic syndrome
  • p.Phe288fs Single submitter hereditary neoplastic syndrome
  • p.Val101_Leu141del Single submitter growth hormone secreting pituitary adenoma 1
  • c.(?_1 No assertion criteria growth hormone secreting pituitary adenoma 1
  • c.100-1025_279+357del No assertion criteria growth hormone secreting pituitary adenoma 1
  • c.74_81delTCCCGGACins7 No assertion criteria growth hormone secreting pituitary adenoma 1

Conflicting classifications of pathogenicity 61

  • c.100-18C>T Single submitter hereditary neoplastic syndrome
  • c.100-6C>A Single submitter pituitary adenoma 5, multiple types
  • c.279+1G>A Single submitter hereditary neoplastic syndrome
  • c.468+3G>A Single submitter growth hormone secreting pituitary adenoma 1
  • c.645+2T>C Single submitter hereditary neoplastic syndrome
  • c.645+4C>G Single submitter hereditary neoplastic syndrome
  • c.787+10G>A Single submitter familial isolated pituitary adenoma
  • c.787+3G>A Single submitter hereditary neoplastic syndrome
  • p.Ala109Val Single submitter growth hormone secreting pituitary adenoma 1 ⚠
  • p.Ala2= Single submitter hereditary neoplastic syndrome
  • p.Ala207Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala274= Single submitter hereditary neoplastic syndrome
  • p.Ala276Val Single submitter growth hormone secreting pituitary adenoma 1 ⚠
  • p.Ala297Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala299Val Single submitter familial isolated pituitary adenoma ⚠
  • p.Ala322Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala322Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala55Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala55Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg119Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg128Cys Single submitter growth hormone secreting pituitary adenoma 1 ⚠
  • p.Arg128His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg16His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg188Trp Single submitter growth hormone secreting pituitary adenoma 1 ⚠
  • p.Arg191Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg304Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg307fs Single submitter hereditary neoplastic syndrome
  • p.Arg312Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg323Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg325Gln Single submitter growth hormone secreting pituitary adenoma 1 ⚠
  • p.Arg9Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn187= Single submitter hereditary neoplastic syndrome
  • p.Asp45Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln229Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu116_Val124del Single submitter hereditary neoplastic syndrome
  • p.Glu173Lys Single submitter growth hormone secreting pituitary adenoma 1 ⚠
  • p.Glu192Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu192Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu245Lys Single submitter growth hormone secreting pituitary adenoma 1 ⚠
  • p.Glu318Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu61= Single submitter hereditary neoplastic syndrome
  • p.Gly23Glu Single submitter growth hormone secreting pituitary adenoma 1 ⚠
  • p.His135Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.His194Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile149Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile92Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu226Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu242Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu292Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys210= Single submitter hereditary neoplastic syndrome
  • p.Lys69Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Phe269= Single submitter hereditary neoplastic syndrome
  • p.Ser159Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser303Asn Single submitter growth hormone secreting pituitary adenoma 1 ⚠
  • p.Thr231Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Tyr261= Single submitter hereditary neoplastic syndrome
  • p.Val101Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Val195Ala Single submitter growth hormone secreting pituitary adenoma 1 ⚠
  • p.Val265Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Val278= Single submitter hereditary neoplastic syndrome
  • p.Val72Leu Single submitter hereditary neoplastic syndrome ⚠

Benign 13

Benign/Likely benign 6

  • c.*60G>C Multiple submitters growth hormone secreting pituitary adenoma 1
  • p.Cys122= Multiple submitters hereditary neoplastic syndrome
  • p.Glu197= Multiple submitters hereditary neoplastic syndrome
  • p.Glu24Asp Multiple submitters hereditary neoplastic syndrome
  • p.Thr231= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr203= Multiple submitters growth hormone secreting pituitary adenoma 1

Likely benign 316

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

Uncertain significance 579

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