Sugi Variant

Sugi Variant/CTRC

CTRC — 701 ClinVar variants

All ClinVar germline CTRC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 404 flagged for review →

7 Pathogenic · 3 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 45 Conflicting · 19 Benign · 9 Benign/Likely benign · 209 Likely benign · 402 Uncertain significance

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

⚑ Evidence disagreements 404

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 15

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

Predictors lean, ClinVar uncertain 215

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 215

Predictors split 174

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 174

All CTRC variants

Pathogenic 7

  • p.Lys247_Arg254del Multiple submitters hereditary chronic pancreatitis
  • p.Ile64fs Single submitter hereditary chronic pancreatitis
  • p.Lys126Ter Single submitter hereditary chronic pancreatitis
  • p.Pro20fs Single submitter hereditary chronic pancreatitis
  • p.Trp191_Trp192insTer Single submitter hereditary chronic pancreatitis
  • p.Trp55Ter Single submitter hereditary chronic pancreatitis
  • p.Tyr82Ter Single submitter hereditary chronic pancreatitis

Pathogenic/Likely pathogenic 3

  • c.494-1G>C Multiple submitters hereditary chronic pancreatitis
  • p.Arg29Ter Multiple submitters hereditary chronic pancreatitis
  • p.Gln174Ter Multiple submitters hereditary chronic pancreatitis

Likely pathogenic 7

  • c.133-1G>T Single submitter hereditary chronic pancreatitis
  • p.Cys155Tyr Single submitter hereditary chronic pancreatitis
  • p.Glu144fs Single submitter hereditary chronic pancreatitis
  • p.Ile234fs Single submitter chronic pancreatitis
  • p.Met1Thr Single submitter hereditary chronic pancreatitis
  • p.Ser210fs Single submitter hereditary chronic pancreatitis
  • p.Trp43Ter Single submitter hereditary chronic pancreatitis

Conflicting classifications of pathogenicity 45

  • c.230+7G>A Single submitter hereditary chronic pancreatitis
  • c.231-2A>G Single submitter hereditary chronic pancreatitis
  • c.41-5C>A Single submitter hereditary chronic pancreatitis
  • c.493+3G>A Single submitter hereditary chronic pancreatitis
  • c.494-1G>A Single submitter hereditary chronic pancreatitis
  • c.494-2A>G Single submitter hereditary chronic pancreatitis
  • c.494-6C>T Single submitter hereditary chronic pancreatitis
  • c.640-12G>A Single submitter hereditary chronic pancreatitis
  • c.792+12C>A Single submitter hereditary chronic pancreatitis
  • c.-59C>T Single submitter hereditary chronic pancreatitis
  • p.Ala184Thr Single submitter hereditary chronic pancreatitis ⚠
  • p.Ala28Thr Single submitter hereditary chronic pancreatitis ⚠
  • p.Ala73Thr Single submitter hereditary chronic pancreatitis ⚠
  • p.Arg162His Single submitter hereditary chronic pancreatitis ⚠
  • p.Arg241Gln Single submitter hereditary chronic pancreatitis ⚠
  • p.Arg246Cys Single submitter hereditary chronic pancreatitis ⚠
  • p.Arg246Leu Single submitter hereditary chronic pancreatitis ⚠
  • p.Asn263Ser Single submitter hereditary chronic pancreatitis ⚠
  • p.Asn52Asp Single submitter hereditary chronic pancreatitis ⚠
  • p.Asn78fs Single submitter hereditary chronic pancreatitis
  • p.Cys13= Single submitter hereditary chronic pancreatitis
  • p.Cys202= Single submitter hereditary chronic pancreatitis
  • p.Gln178Arg Single submitter hereditary chronic pancreatitis ⚠
  • p.Gln44= Single submitter hereditary chronic pancreatitis
  • p.Gln44fs Single submitter hereditary chronic pancreatitis
  • p.Glu225Ala Single submitter hereditary chronic pancreatitis ⚠
  • p.Gly103fs Single submitter hereditary chronic pancreatitis
  • p.Gly205= Single submitter hereditary chronic pancreatitis
  • p.Gly214= Single submitter hereditary chronic pancreatitis
  • p.Gly217Arg Single submitter hereditary chronic pancreatitis ⚠
  • p.Gly217Ser Single submitter hereditary chronic pancreatitis ⚠
  • p.Gly61Arg Single submitter hereditary chronic pancreatitis ⚠
  • p.His183= Single submitter hereditary chronic pancreatitis
  • p.Met1Val Single submitter hereditary chronic pancreatitis
  • p.Pro23Leu Single submitter hereditary chronic pancreatitis ⚠
  • p.Pro249Leu Single submitter hereditary chronic pancreatitis ⚠
  • p.Ser16Gly Single submitter hereditary chronic pancreatitis ⚠
  • p.Ser239Cys Single submitter hereditary chronic pancreatitis ⚠
  • p.Ser27= Single submitter hereditary chronic pancreatitis
  • p.Thr199Ser Single submitter hereditary chronic pancreatitis ⚠
  • p.Thr253= Single submitter hereditary chronic pancreatitis
  • p.Trp160Ter Single submitter hereditary chronic pancreatitis
  • p.Trp164fs Single submitter hereditary chronic pancreatitis
  • p.Val235Ile Single submitter hereditary chronic pancreatitis ⚠
  • p.Val93Leu Single submitter hereditary chronic pancreatitis ⚠

Benign 19

Benign/Likely benign 9

  • c.230+38C>T Multiple submitters hereditary chronic pancreatitis
  • c.231-14C>T Multiple submitters hereditary chronic pancreatitis
  • c.356+7G>C Multiple submitters hereditary chronic pancreatitis
  • c.494-13A>G Multiple submitters hereditary chronic pancreatitis
  • c.640-14C>T Multiple submitters hereditary chronic pancreatitis
  • p.Arg37Gln Multiple submitters hereditary chronic pancreatitis ⚠
  • p.Asp95= Multiple submitters hereditary chronic pancreatitis
  • p.Gly60= Multiple submitters hereditary chronic pancreatitis
  • p.Pro249= Multiple submitters hereditary chronic pancreatitis

Likely benign 209

  • c.231-4C>A Multiple submitters hereditary chronic pancreatitis
  • c.356+17C>G Multiple submitters hereditary chronic pancreatitis
  • c.357-70G>A Multiple submitters
  • c.40+10G>A Multiple submitters hereditary chronic pancreatitis
  • c.40+18G>A Multiple submitters hereditary chronic pancreatitis
  • c.493+10G>A Multiple submitters hereditary chronic pancreatitis
  • c.493+185G>C Multiple submitters
  • c.494-10C>T Multiple submitters hereditary chronic pancreatitis
  • c.639+172G>A Multiple submitters
  • c.640-40G>T Multiple submitters hereditary chronic pancreatitis
  • p.Ala28= Multiple submitters hereditary chronic pancreatitis
  • p.Ala72= Multiple submitters hereditary chronic pancreatitis
  • p.Arg195= Multiple submitters hereditary chronic pancreatitis
  • p.Arg83= Multiple submitters hereditary chronic pancreatitis
  • p.Asn226= Multiple submitters hereditary chronic pancreatitis
  • p.Asn263= Multiple submitters hereditary chronic pancreatitis
  • p.Asn90= Multiple submitters hereditary chronic pancreatitis
  • p.Asp121= Multiple submitters hereditary chronic pancreatitis
  • p.Cys141= Multiple submitters hereditary chronic pancreatitis
  • p.Glu225= Multiple submitters hereditary chronic pancreatitis
  • p.Gly159= Multiple submitters hereditary chronic pancreatitis
  • p.Gly176= Multiple submitters hereditary chronic pancreatitis
  • p.Gly207= Multiple submitters hereditary chronic pancreatitis
  • p.Ile234= Multiple submitters hereditary chronic pancreatitis
  • p.Ile259= Multiple submitters hereditary chronic pancreatitis
  • p.Leu118= Multiple submitters hereditary chronic pancreatitis
  • p.Leu7= Multiple submitters hereditary chronic pancreatitis
  • p.Leu70= Multiple submitters hereditary chronic pancreatitis
  • p.Lys88= Multiple submitters hereditary chronic pancreatitis
  • p.Phe68= Multiple submitters hereditary chronic pancreatitis
  • p.Pro179= Multiple submitters hereditary chronic pancreatitis
  • p.Ser256= Multiple submitters hereditary chronic pancreatitis
  • p.Ser66= Multiple submitters hereditary chronic pancreatitis
  • p.Thr158= Multiple submitters hereditary chronic pancreatitis
  • p.Thr5= Multiple submitters hereditary chronic pancreatitis
  • p.Thr54= Multiple submitters hereditary chronic pancreatitis
  • p.Tyr153= Multiple submitters hereditary chronic pancreatitis
  • p.Tyr49= Multiple submitters hereditary chronic pancreatitis
  • p.Val180= Multiple submitters hereditary chronic pancreatitis
  • p.Val255= Multiple submitters hereditary chronic pancreatitis
  • c.132+15G>A Single submitter hereditary chronic pancreatitis
  • c.132+16G>C Single submitter hereditary chronic pancreatitis
  • c.132+16G>T Single submitter hereditary chronic pancreatitis
  • c.132+20G>A Single submitter hereditary chronic pancreatitis
  • c.133-15C>T Single submitter hereditary chronic pancreatitis
  • c.133-18C>T Single submitter hereditary chronic pancreatitis
  • c.133-19C>G Single submitter hereditary chronic pancreatitis
  • c.230+17C>G Single submitter hereditary chronic pancreatitis
  • c.231-11C>A Single submitter hereditary chronic pancreatitis
  • c.231-15C>G Single submitter hereditary chronic pancreatitis
  • c.231-17C>T Single submitter hereditary chronic pancreatitis
  • c.356+17C>T Single submitter hereditary chronic pancreatitis
  • c.357-30C>A Single submitter
  • c.357-3C>T Single submitter hereditary chronic pancreatitis
  • c.40+12G>C Single submitter hereditary chronic pancreatitis
  • c.40+14T>C Single submitter hereditary chronic pancreatitis
  • c.40+20T>G Single submitter hereditary chronic pancreatitis
  • c.40+24G>A Single submitter hereditary chronic pancreatitis
  • c.40+7G>A Single submitter hereditary chronic pancreatitis
  • c.41-11T>C Single submitter hereditary chronic pancreatitis
  • c.41-19T>C Single submitter hereditary chronic pancreatitis
  • c.41-3dup Single submitter hereditary chronic pancreatitis
  • c.41-6C>T Single submitter hereditary chronic pancreatitis
  • c.493+13C>G Single submitter hereditary chronic pancreatitis
  • c.493+16G>A Single submitter hereditary chronic pancreatitis
  • c.493+38G>A Single submitter hereditary chronic pancreatitis
  • c.493+9C>T Single submitter hereditary chronic pancreatitis
  • c.494-19C>G Single submitter hereditary chronic pancreatitis
  • c.639+13G>A Single submitter hereditary chronic pancreatitis
  • c.639+45A>G Single submitter hereditary chronic pancreatitis
  • c.640-11G>T Single submitter hereditary chronic pancreatitis
  • c.640-13C>T Single submitter hereditary chronic pancreatitis
  • c.640-251A>C Single submitter
  • c.640-40G>C Single submitter hereditary chronic pancreatitis
  • c.640-41G>T Single submitter hereditary chronic pancreatitis
  • c.640-42G>C Single submitter hereditary chronic pancreatitis
  • c.640-6G>A Single submitter hereditary chronic pancreatitis
  • c.792+10G>A Single submitter hereditary chronic pancreatitis
  • c.792+13T>A Single submitter hereditary chronic pancreatitis
  • c.792+19G>A Single submitter hereditary chronic pancreatitis
  • c.792+8C>T Single submitter hereditary chronic pancreatitis
  • p.Ala115= Single submitter hereditary chronic pancreatitis
  • p.Ala123= Single submitter hereditary chronic pancreatitis
  • p.Ala14= Single submitter hereditary chronic pancreatitis
  • p.Ala170= Single submitter hereditary chronic pancreatitis
  • p.Ala184= Single submitter hereditary chronic pancreatitis
  • p.Ala203= Single submitter hereditary chronic pancreatitis
  • p.Ala211= Single submitter hereditary chronic pancreatitis
  • p.Ala257= Single submitter hereditary chronic pancreatitis
  • p.Ala36= Single submitter hereditary chronic pancreatitis
  • p.Ala65= Single submitter hereditary chronic pancreatitis
  • p.Ala85= Single submitter hereditary chronic pancreatitis
  • p.Ala9= Single submitter hereditary chronic pancreatitis
  • p.Arg112= Single submitter hereditary chronic pancreatitis
  • p.Arg112Lys Single submitter hereditary chronic pancreatitis
  • p.Arg162= Single submitter hereditary chronic pancreatitis
  • p.Arg188= Single submitter hereditary chronic pancreatitis
  • p.Arg195Met Single submitter hereditary chronic pancreatitis
  • p.Arg240= Single submitter hereditary chronic pancreatitis
  • p.Arg241= Single submitter hereditary chronic pancreatitis
  • p.Arg241Leu Single submitter hereditary chronic pancreatitis
  • p.Arg246= Single submitter hereditary chronic pancreatitis
  • p.Arg254= Single submitter hereditary chronic pancreatitis
  • p.Arg29= Single submitter hereditary chronic pancreatitis
  • p.Arg37= Single submitter hereditary chronic pancreatitis
  • p.Arg56= Single submitter hereditary chronic pancreatitis
  • p.Asn114= Single submitter hereditary chronic pancreatitis
  • p.Asn120= Single submitter hereditary chronic pancreatitis
  • p.Asn166= Single submitter hereditary chronic pancreatitis
  • p.Asp105= Single submitter hereditary chronic pancreatitis
  • p.Asp146= Single submitter hereditary chronic pancreatitis
  • p.Asp182= Single submitter hereditary chronic pancreatitis
  • p.Asp206= Single submitter hereditary chronic pancreatitis
  • p.Asp35Asn Single submitter hereditary chronic pancreatitis ⚠
  • p.Asp53Asn Single submitter hereditary chronic pancreatitis
  • p.Cys13Tyr Single submitter hereditary chronic pancreatitis
  • p.Cys155= Single submitter hereditary chronic pancreatitis
  • p.Cys212= Single submitter hereditary chronic pancreatitis
  • p.Cys222= Single submitter hereditary chronic pancreatitis
  • p.Cys59= Single submitter hereditary chronic pancreatitis
  • p.Gln174= Single submitter hereditary chronic pancreatitis
  • p.Gln175= Single submitter hereditary chronic pancreatitis
  • p.Gln178= Single submitter hereditary chronic pancreatitis
  • p.Gln223= Single submitter hereditary chronic pancreatitis
  • p.Gln267= Single submitter hereditary chronic pancreatitis
  • p.Gln48= Single submitter hereditary chronic pancreatitis
  • p.Glu129= Single submitter hereditary chronic pancreatitis
  • p.Glu132= Single submitter hereditary chronic pancreatitis
  • p.Glu144= Single submitter hereditary chronic pancreatitis
  • p.Glu34= Single submitter hereditary chronic pancreatitis
  • p.Glu96= Single submitter hereditary chronic pancreatitis
  • p.Glu97= Single submitter hereditary chronic pancreatitis
  • p.Gly161= Single submitter hereditary chronic pancreatitis
  • p.Gly167= Single submitter hereditary chronic pancreatitis
  • p.Gly18= Single submitter hereditary chronic pancreatitis
  • p.Gly193= Single submitter hereditary chronic pancreatitis
  • p.Gly204= Single submitter hereditary chronic pancreatitis
  • p.Gly218= Single submitter hereditary chronic pancreatitis
  • p.Gly227= Single submitter hereditary chronic pancreatitis
  • p.Gly233= Single submitter hereditary chronic pancreatitis
  • p.Gly238= Single submitter hereditary chronic pancreatitis
  • p.His108= Single submitter hereditary chronic pancreatitis
  • p.His108Tyr Single submitter hereditary chronic pancreatitis
  • p.His130Pro Single submitter hereditary chronic pancreatitis
  • p.Ile122= Single submitter hereditary chronic pancreatitis
  • p.Ile137= Single submitter hereditary chronic pancreatitis
  • p.Ile169= Single submitter hereditary chronic pancreatitis
  • p.Ile4= Single submitter hereditary chronic pancreatitis
  • p.Ile64= Single submitter hereditary chronic pancreatitis
  • p.Leu10= Single submitter hereditary chronic pancreatitis
  • p.Leu100= Single submitter hereditary chronic pancreatitis
  • p.Leu11= Single submitter hereditary chronic pancreatitis
  • p.Leu116= Single submitter hereditary chronic pancreatitis
  • p.Leu117= Single submitter hereditary chronic pancreatitis
  • p.Leu133= Single submitter hereditary chronic pancreatitis
  • p.Leu142= Single submitter hereditary chronic pancreatitis
  • p.Leu148= Single submitter hereditary chronic pancreatitis
  • p.Leu149= Single submitter hereditary chronic pancreatitis
  • p.Leu173= Single submitter hereditary chronic pancreatitis
  • p.Leu177= Single submitter hereditary chronic pancreatitis
  • p.Leu2= Single submitter hereditary chronic pancreatitis
  • p.Leu220= Single submitter hereditary chronic pancreatitis
  • p.Leu224= Single submitter hereditary chronic pancreatitis
  • p.Leu26= Single submitter hereditary chronic pancreatitis
  • p.Leu268= Single submitter hereditary chronic pancreatitis
  • p.Leu50= Single submitter hereditary chronic pancreatitis
  • p.Leu91= Single submitter hereditary chronic pancreatitis
  • p.Lys111Glu Single submitter hereditary chronic pancreatitis
  • p.Lys172= Single submitter hereditary chronic pancreatitis
  • p.Lys198= Single submitter hereditary chronic pancreatitis
  • p.Lys247= Single submitter hereditary chronic pancreatitis
  • p.Lys248= Single submitter hereditary chronic pancreatitis
  • p.Phe194= Single submitter hereditary chronic pancreatitis
  • p.Phe22= Single submitter hereditary chronic pancreatitis
  • p.Phe232= Single submitter
  • p.Pro143= Single submitter hereditary chronic pancreatitis
  • p.Pro150= Single submitter hereditary chronic pancreatitis
  • p.Pro154= Single submitter hereditary chronic pancreatitis
  • p.Pro23= Single submitter hereditary chronic pancreatitis
  • p.Pro24= Single submitter hereditary chronic pancreatitis
  • p.Pro38= Single submitter hereditary chronic pancreatitis
  • p.Ser15= Single submitter hereditary chronic pancreatitis
  • p.Ser16= Single submitter hereditary chronic pancreatitis
  • p.Ser21= Single submitter hereditary chronic pancreatitis
  • p.Ser216= Single submitter hereditary chronic pancreatitis
  • p.Ser239= Single submitter hereditary chronic pancreatitis
  • p.Ser46= Single submitter hereditary chronic pancreatitis
  • p.Ser99= Single submitter hereditary chronic pancreatitis
  • p.Thr106= Single submitter hereditary chronic pancreatitis
  • p.Thr136= Single submitter hereditary chronic pancreatitis
  • p.Thr185= Single submitter hereditary chronic pancreatitis
  • p.Thr245= Single submitter hereditary chronic pancreatitis
  • p.Thr58= Single submitter hereditary chronic pancreatitis
  • p.Thr71= Single submitter hereditary chronic pancreatitis
  • p.Thr79= Single submitter hereditary chronic pancreatitis
  • p.Thr81= Single submitter hereditary chronic pancreatitis
  • p.Tyr252= Single submitter hereditary chronic pancreatitis
  • p.Tyr258= Single submitter hereditary chronic pancreatitis
  • p.Val102= Single submitter hereditary chronic pancreatitis
  • p.Val157= Single submitter hereditary chronic pancreatitis
  • p.Val181= Single submitter hereditary chronic pancreatitis
  • p.Val235= Single submitter hereditary chronic pancreatitis
  • p.Val250= Single submitter hereditary chronic pancreatitis
  • p.Val251= Single submitter hereditary chronic pancreatitis
  • p.Val30= Single submitter hereditary chronic pancreatitis
  • p.Val31= Single submitter hereditary chronic pancreatitis
  • p.Val69= Single submitter hereditary chronic pancreatitis
  • p.Val86= Single submitter hereditary chronic pancreatitis
  • p.Val93= Single submitter hereditary chronic pancreatitis

Uncertain significance 402

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