SPINK1 — 224 ClinVar variants
All ClinVar germline SPINK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
8 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 19 Conflicting · 4 Benign · 8 Benign/Likely benign · 73 Likely benign · 106 Uncertain significance
Full SPINK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SPINK1 p.Ala13Val
Conflicting
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Arg28Lys
Conflicting
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Arg65Leu
Conflicting
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Arg67His
Conflicting
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Gln68Arg
Conflicting
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Gln74Lys
Conflicting
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Ile42Met
Conflicting
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Ser70Thr
Conflicting
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Thr69Ile
Conflicting
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Val59Met
Conflicting
Single submitter
hereditary chronic pancreatitis
Predicted LoF vs a conflicting call 2
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
SPINK1 p.Cys61fs
Conflicting
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Met1Leu
Conflicting
Single submitter
hereditary chronic pancreatitis
Predictors lean, ClinVar uncertain 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SPINK1 p.Ala23Val
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Arg65Gln
Uncertain significance
Multiple submitters
tropical pancreatitis
-
SPINK1 p.Arg65Trp
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Asn37His
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Asn52Ser
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Asn56Lys
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Asp24Ala
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Glu57Gly
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Glu63Gly
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Gly19Ala
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Gly19Val
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Ile6Phe
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Ile73Thr
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Lys66Asn
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Pro45Arg
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Tyr43Cys
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Val3Ala
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Val46Asp
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Ala11Val
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Arg67Leu
Uncertain significance
Single submitter
hereditary chronic pancreatitis
- SPINK1 p.Asn20Tyr Uncertain significance Single submitter
-
SPINK1 p.Asn37Ile
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Asn37Lys
Uncertain significance
Single submitter
hereditary chronic pancreatitis
- SPINK1 p.Cys39Tyr Uncertain significance Single submitter
-
SPINK1 p.Cys47Arg
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Cys58Arg
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Cys58Tyr
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Cys61Arg
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Gln68Leu
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Gly19Asp
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Gly5Asp
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Gly77Arg
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Leu14Arg
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Leu14Val
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Leu36Pro
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Leu8Pro
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Leu9Arg
Uncertain significance
Single submitter
Pancreatitis, chronic, susceptibility to
-
SPINK1 p.Leu9Pro
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Leu9Val
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Lys2Arg
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Lys31Ile
Uncertain significance
Single submitter
hereditary chronic pancreatitis
- SPINK1 p.Lys41Gln Uncertain significance Single submitter
- SPINK1 p.Lys41Glu Uncertain significance Single submitter
-
SPINK1 p.Phe62Ser
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Phe7Ile
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Pro45Thr
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Pro78Ser
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Ser10Arg
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Ser16Cys
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Ser16Ile
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Ser18Pro
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Ser76Ala
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Thr53Ala
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Val3Ile
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Val3Leu
Uncertain significance
Single submitter
hereditary chronic pancreatitis
Predictors split 14
The independent predictors disagree with each other — read with care.
-
SPINK1 p.Arg28Gly
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Arg67Cys
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Asn64Asp
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
SPINK1 p.Gly27Glu
Uncertain significance
Multiple submitters
tropical pancreatitis
-
SPINK1 p.Arg28Ser
Uncertain significance
Single submitter
hereditary chronic pancreatitis
- SPINK1 p.Cys32Tyr Uncertain significance Single submitter
-
SPINK1 p.Cys79Gly
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Cys79Tyr
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Gly27Arg
Uncertain significance
Single submitter
hereditary chronic pancreatitis
- SPINK1 p.Leu12Ser Uncertain significance Single submitter
-
SPINK1 p.Lys41Asn
Likely pathogenic
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Ser10Asn
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Ser76Cys
Uncertain significance
Single submitter
hereditary chronic pancreatitis
-
SPINK1 p.Thr49Ala
Uncertain significance
Single submitter
hereditary chronic pancreatitis
All SPINK1 variants
Pathogenic 8
- p.Glu35Ter Multiple submitters hereditary chronic pancreatitis
- p.Ser10fs Multiple submitters hereditary chronic pancreatitis
- c.87+1G>A Single submitter hereditary chronic pancreatitis
- p.Cys58Ter Single submitter hereditary chronic pancreatitis
- c.-191-129_56-932del No assertion criteria hereditary chronic pancreatitis
- c.-191-24G>T No assertion criteria tropical pancreatitis
- p.Leu14Pro No assertion criteria hereditary chronic pancreatitis
- p.Met1Thr No assertion criteria hereditary chronic pancreatitis
Pathogenic/Likely pathogenic 1
- c.194+2T>C Multiple submitters SPINK1-related disorder
Likely pathogenic 5
- c.55+1G>A Single submitter hereditary chronic pancreatitis
- c.55+1G>T Single submitter hereditary chronic pancreatitis
- p.Asn56fs Single submitter hereditary chronic pancreatitis
- p.Lys41Asn Single submitter hereditary chronic pancreatitis ⚠
- p.Tyr43Ter Single submitter SPINK1-related disorder
Conflicting classifications of pathogenicity 19
- c.195-7A>G Single submitter hereditary chronic pancreatitis
- c.87+26T>C Single submitter hereditary chronic pancreatitis
- c.-147A>G Single submitter hereditary chronic pancreatitis
- c.-191-24G>A Single submitter SPINK1-related disorder
- c.-22C>T Single submitter hereditary chronic pancreatitis
- c.*27G>T Single submitter hereditary chronic pancreatitis
- p.Ala13Val Single submitter hereditary chronic pancreatitis ⚠
- p.Arg28Lys Single submitter hereditary chronic pancreatitis ⚠
- p.Arg65Leu Single submitter hereditary chronic pancreatitis ⚠
- p.Arg67His Single submitter hereditary chronic pancreatitis ⚠
- p.Cys61fs Single submitter hereditary chronic pancreatitis ⚠
- p.Gln68Arg Single submitter hereditary chronic pancreatitis ⚠
- p.Gln74Lys Single submitter hereditary chronic pancreatitis ⚠
- p.Ile42Met Single submitter hereditary chronic pancreatitis ⚠
- p.Lys31_Tyr33del Single submitter hereditary chronic pancreatitis
- p.Met1Leu Single submitter hereditary chronic pancreatitis ⚠
- p.Ser70Thr Single submitter hereditary chronic pancreatitis ⚠
- p.Thr69Ile Single submitter hereditary chronic pancreatitis ⚠
- p.Val59Met Single submitter hereditary chronic pancreatitis ⚠
Benign 4
- c.195-70_195-67dup Multiple submitters hereditary chronic pancreatitis
- c.195-15dup Single submitter hereditary chronic pancreatitis
- c.-164G>C Single submitter
- c.*34C>T Single submitter hereditary chronic pancreatitis
Benign/Likely benign 8
- c.194+184T>A Multiple submitters hereditary chronic pancreatitis
- c.194+90A>T Multiple submitters hereditary chronic pancreatitis
- c.88-23A>T Multiple submitters hereditary chronic pancreatitis
- c.-41G>A Multiple submitters hereditary chronic pancreatitis
- c.*32C>T Multiple submitters hereditary chronic pancreatitis
- p.Cys58= Multiple submitters hereditary chronic pancreatitis
- p.Leu12Phe Multiple submitters hereditary chronic pancreatitis
- p.Pro55Ser Multiple submitters tropical pancreatitis
Likely benign 73
- c.195-21T>A Multiple submitters hereditary chronic pancreatitis
- c.55+122G>A Multiple submitters
- c.87+7A>T Multiple submitters hereditary chronic pancreatitis
- c.*51T>C Multiple submitters hereditary chronic pancreatitis
- p.Asn37= Multiple submitters hereditary chronic pancreatitis
- p.Asn37Ser Multiple submitters hereditary chronic pancreatitis
- p.Asn64= Multiple submitters hereditary chronic pancreatitis
- p.Asp24= Multiple submitters hereditary chronic pancreatitis
- p.Gly38= Multiple submitters hereditary chronic pancreatitis
- p.Leu72= Multiple submitters hereditary chronic pancreatitis
- p.Phe62= Multiple submitters hereditary chronic pancreatitis
- p.Ser70= Multiple submitters hereditary chronic pancreatitis
- p.Tyr54= Multiple submitters hereditary chronic pancreatitis
- p.Val59= Multiple submitters hereditary chronic pancreatitis
- c.194+15G>C Single submitter hereditary chronic pancreatitis
- c.194+19T>G Single submitter hereditary chronic pancreatitis
- c.195-15T>A Single submitter
- c.55+11C>A Single submitter hereditary chronic pancreatitis
- c.55+12A>G Single submitter hereditary chronic pancreatitis
- c.55+14A>G Single submitter hereditary chronic pancreatitis
- c.56-15C>T Single submitter hereditary chronic pancreatitis
- c.56-19A>G Single submitter hereditary chronic pancreatitis
- c.87+10T>C Single submitter hereditary chronic pancreatitis
- c.87+18A>G Single submitter hereditary chronic pancreatitis
- c.87+54C>T Single submitter
- c.87+7A>G Single submitter hereditary chronic pancreatitis
- c.88-10C>T Single submitter hereditary chronic pancreatitis
- c.88-20C>A Single submitter hereditary chronic pancreatitis
- c.-192+3416G>T Single submitter
- c.-42C>T Single submitter hereditary chronic pancreatitis
- p.Ala11= Single submitter hereditary chronic pancreatitis
- p.Ala13= Single submitter hereditary chronic pancreatitis
- p.Arg67= Single submitter hereditary chronic pancreatitis
- p.Asn52= Single submitter hereditary chronic pancreatitis
- p.Asp44= Single submitter hereditary chronic pancreatitis
- p.Asp50= Single submitter hereditary chronic pancreatitis
- p.Cys39= Single submitter hereditary chronic pancreatitis
- p.Cys61= Single submitter hereditary chronic pancreatitis
- p.Gln68= Single submitter hereditary chronic pancreatitis
- p.Gln74= Single submitter hereditary chronic pancreatitis
- p.Gln74Arg Single submitter hereditary chronic pancreatitis
- p.Glu29Lys Single submitter hereditary chronic pancreatitis
- p.Glu35= Single submitter hereditary chronic pancreatitis
- p.Glu35Asp Single submitter hereditary chronic pancreatitis
- p.Glu57= Single submitter hereditary chronic pancreatitis
- p.Gly22Ala Single submitter hereditary chronic pancreatitis
- p.Gly22Arg Single submitter hereditary chronic pancreatitis
- p.Gly48= Single submitter hereditary chronic pancreatitis
- p.Gly77= Single submitter hereditary chronic pancreatitis
- p.Ile71Val Single submitter hereditary chronic pancreatitis
- p.Ile73Val Single submitter hereditary chronic pancreatitis
- p.Leu14= Single submitter hereditary chronic pancreatitis
- p.Leu17= Single submitter hereditary chronic pancreatitis
- p.Leu26= Single submitter hereditary chronic pancreatitis
- p.Leu36= Single submitter hereditary chronic pancreatitis
- p.Leu60= Single submitter hereditary chronic pancreatitis
- p.Lys2= Single submitter hereditary chronic pancreatitis
- p.Lys41= Single submitter hereditary chronic pancreatitis
- p.Lys66= Single submitter hereditary chronic pancreatitis
- p.Pro45= Single submitter hereditary chronic pancreatitis
- p.Pro55= Single submitter hereditary chronic pancreatitis
- p.Pro78= Single submitter hereditary chronic pancreatitis
- p.Ser16= Single submitter hereditary chronic pancreatitis
- p.Ser18= Single submitter hereditary chronic pancreatitis
- p.Ser25= Single submitter hereditary chronic pancreatitis
- p.Ter80= Single submitter hereditary chronic pancreatitis
- p.Thr40= Single submitter hereditary chronic pancreatitis
- p.Thr49= Single submitter hereditary chronic pancreatitis
- p.Thr53= Single submitter hereditary chronic pancreatitis
- p.Tyr33= Single submitter hereditary chronic pancreatitis
- p.Tyr33Ser Single submitter hereditary chronic pancreatitis
- p.Val3= Single submitter hereditary chronic pancreatitis
- p.Val46= Single submitter hereditary chronic pancreatitis
Uncertain significance 106
- c.194+5G>A Multiple submitters hereditary chronic pancreatitis
- c.55+5G>A Multiple submitters hereditary chronic pancreatitis
- c.-142T>C Multiple submitters hereditary chronic pancreatitis
- c.-14G>A Multiple submitters
- c.-15C>T Multiple submitters
- c.-40G>A Multiple submitters
- c.-53C>T Multiple submitters hereditary chronic pancreatitis
- p.Ala23Val Multiple submitters hereditary chronic pancreatitis ⚠
- p.Arg28Gly Multiple submitters hereditary chronic pancreatitis ⚠
- p.Arg65Gln Multiple submitters tropical pancreatitis ⚠
- p.Arg65Trp Multiple submitters hereditary chronic pancreatitis ⚠
- p.Arg67Cys Multiple submitters hereditary chronic pancreatitis ⚠
- p.Asn37His Multiple submitters hereditary chronic pancreatitis ⚠
- p.Asn52Ser Multiple submitters hereditary chronic pancreatitis ⚠
- p.Asn56Lys Multiple submitters hereditary chronic pancreatitis ⚠
- p.Asn64Asp Multiple submitters hereditary chronic pancreatitis ⚠
- p.Asp24Ala Multiple submitters hereditary chronic pancreatitis ⚠
- p.Glu57Gly Multiple submitters hereditary chronic pancreatitis ⚠
- p.Glu63Gly Multiple submitters hereditary chronic pancreatitis ⚠
- p.Gly19Ala Multiple submitters hereditary chronic pancreatitis ⚠
- p.Gly19Val Multiple submitters hereditary chronic pancreatitis ⚠
- p.Gly27Glu Multiple submitters tropical pancreatitis ⚠
- p.Ile6Phe Multiple submitters hereditary chronic pancreatitis ⚠
- p.Ile73Phe Multiple submitters hereditary chronic pancreatitis
- p.Ile73Thr Multiple submitters hereditary chronic pancreatitis ⚠
- p.Leu72Pro Multiple submitters hereditary chronic pancreatitis
- p.Lys66Asn Multiple submitters hereditary chronic pancreatitis ⚠
- p.Lys75Ile Multiple submitters hereditary chronic pancreatitis
- p.Pro45Arg Multiple submitters hereditary chronic pancreatitis ⚠
- p.Tyr43Cys Multiple submitters hereditary chronic pancreatitis ⚠
- p.Tyr43His Multiple submitters hereditary chronic pancreatitis
- p.Val3Ala Multiple submitters hereditary chronic pancreatitis ⚠
- p.Val46Asp Multiple submitters hereditary chronic pancreatitis ⚠
- p.Val46Leu Multiple submitters hereditary chronic pancreatitis
- c.194+3G>A Single submitter hereditary chronic pancreatitis
- c.194+6T>C Single submitter
- c.195-1G>A Single submitter
- c.195-3C>T Single submitter hereditary chronic pancreatitis
- c.55+2T>C Single submitter hereditary chronic pancreatitis
- c.56-91_56-90del Single submitter
- c.87+6G>C Single submitter hereditary chronic pancreatitis
- c.88-11T>A Single submitter hereditary chronic pancreatitis
- c.-108G>T Single submitter hereditary chronic pancreatitis
- c.-1C>A Single submitter
- c.-2C>A Single submitter hereditary chronic pancreatitis
- c.-43G>A Single submitter hereditary chronic pancreatitis
- c.-52G>A Single submitter
- c.-5C>T Single submitter hereditary chronic pancreatitis
- c.*10_*38del Single submitter
- c.*17A>G Single submitter
- c.*48C>T Single submitter hereditary chronic pancreatitis
- c.*64del Single submitter
- p.Ala11Val Single submitter hereditary chronic pancreatitis ⚠
- p.Arg28Ser Single submitter hereditary chronic pancreatitis ⚠
- p.Arg67Leu Single submitter hereditary chronic pancreatitis ⚠
- p.Asn20Tyr Single submitter ⚠
- p.Asn37Ile Single submitter hereditary chronic pancreatitis ⚠
- p.Asn37Lys Single submitter hereditary chronic pancreatitis ⚠
- p.Asp44dup Single submitter hereditary chronic pancreatitis
- p.Cys32Tyr Single submitter ⚠
- p.Cys39Tyr Single submitter ⚠
- p.Cys47Arg Single submitter hereditary chronic pancreatitis ⚠
- p.Cys58Arg Single submitter hereditary chronic pancreatitis ⚠
- p.Cys58Tyr Single submitter hereditary chronic pancreatitis ⚠
- p.Cys61Arg Single submitter hereditary chronic pancreatitis ⚠
- p.Cys79Gly Single submitter hereditary chronic pancreatitis ⚠
- p.Cys79Ter Single submitter hereditary chronic pancreatitis
- p.Cys79Tyr Single submitter hereditary chronic pancreatitis ⚠
- p.Gln68Leu Single submitter hereditary chronic pancreatitis ⚠
- p.Gly19Asp Single submitter hereditary chronic pancreatitis ⚠
- p.Gly27Arg Single submitter hereditary chronic pancreatitis ⚠
- p.Gly38Glu Single submitter hereditary chronic pancreatitis
- p.Gly5Asp Single submitter hereditary chronic pancreatitis ⚠
- p.Gly77Arg Single submitter hereditary chronic pancreatitis ⚠
- p.Ile42Thr Single submitter hereditary chronic pancreatitis
- p.Ile71Asn Single submitter hereditary chronic pancreatitis
- p.Leu12_Ala13delinsPheVal Single submitter hereditary chronic pancreatitis
- p.Leu12Ser Single submitter ⚠
- p.Leu14Arg Single submitter hereditary chronic pancreatitis ⚠
- p.Leu14Val Single submitter hereditary chronic pancreatitis ⚠
- p.Leu36Pro Single submitter hereditary chronic pancreatitis ⚠
- p.Leu8Pro Single submitter hereditary chronic pancreatitis ⚠
- p.Leu9Arg Single submitter Pancreatitis, chronic, susceptibility to ⚠
- p.Leu9Pro Single submitter hereditary chronic pancreatitis ⚠
- p.Leu9Val Single submitter hereditary chronic pancreatitis ⚠
- p.Lys2Arg Single submitter hereditary chronic pancreatitis ⚠
- p.Lys2Asn Single submitter hereditary chronic pancreatitis
- p.Lys31Ile Single submitter hereditary chronic pancreatitis ⚠
- p.Lys41Gln Single submitter ⚠
- p.Lys41Glu Single submitter ⚠
- p.Met1Arg Single submitter
- p.Phe62Ser Single submitter hereditary chronic pancreatitis ⚠
- p.Phe7Ile Single submitter hereditary chronic pancreatitis ⚠
- p.Pro45Thr Single submitter hereditary chronic pancreatitis ⚠
- p.Pro78Ser Single submitter hereditary chronic pancreatitis ⚠
- p.Ser10Arg Single submitter hereditary chronic pancreatitis ⚠
- p.Ser10Asn Single submitter hereditary chronic pancreatitis ⚠
- p.Ser16Cys Single submitter hereditary chronic pancreatitis ⚠
- p.Ser16Ile Single submitter hereditary chronic pancreatitis ⚠
- p.Ser18Pro Single submitter hereditary chronic pancreatitis ⚠
- p.Ser76Ala Single submitter hereditary chronic pancreatitis ⚠
- p.Ser76Cys Single submitter hereditary chronic pancreatitis ⚠
- p.Thr49Ala Single submitter hereditary chronic pancreatitis ⚠
- p.Thr53Ala Single submitter hereditary chronic pancreatitis ⚠
- p.Val3Ile Single submitter hereditary chronic pancreatitis ⚠
- p.Val3Leu Single submitter hereditary chronic pancreatitis ⚠