Full data view for gene PRSS1

Information The variants shown are described using the NM_002769.4 transcript reference sequence.

138 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.30G>T r.(?) p.(Val10=) Unknown - benign g.142457365G>T - PRSS1(NM_002769.4):c.30G>T (p.(=)) - PRSS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.38C>T r.(?) p.(Ala13Val) Unknown - VUS g.142457373C>T - - - PRSS1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.40C>G r.(?) p.(Leu14Val) Unknown - benign g.142457375C>G g.142749524C>G PRSS1(NM_002769.5):c.40C>G (p.L14V) - PRSS1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.40+7A>T r.(=) p.(=) Unknown - likely benign g.142457382A>T g.142749531A>T PRSS1(NM_002769.4):c.40+7A>T - PRSS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.41-166G>T r.spl? p.(?) Unknown ACMG likely benign g.142458240G>T g.142750389G>T - - PRSS1_000081 - - - rs182172370 Germline - - - - - DNA SEQ-NG-I blood - Healthy/Control case - - M - Turkey - - - - - 1 Hasan Bas
-?/. - c.44C>G r.(?) p.(Ala15Gly) Unknown - likely benign g.142458409C>G g.142750558C>G PRSS1(NM_002769.4):c.44C>G (p.(Ala15Gly)) - PRSS1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.47C>T r.(?) p.(Ala16Val) Unknown - likely pathogenic g.142458412C>T g.142750561C>T A16V - PRSS1_000044 - PubMed: Chen 2001, Journal: Chen 2001 ClinVar-38363 rs202003805 Germline - 2/221 cases - - - DNA DGGE - - PCTT case PubMed: Chen 2001, Journal: Chen 2001 analysis 221 idiopathic chronic pancreatitis individuals ? - France - - - - - 1 Hasan Bas
+?/. 2 c.47C>T r.(?) p.(Ala16Val) Unknown - likely pathogenic g.142458412C>T g.142750561C>T A16V - PRSS1_000044 - PubMed: Chen 2001, Journal: Chen 2001 ClinVar-38363 rs202003805 Germline - 2/221 cases - - - DNA DGGE blood - PCTT case PubMed: Chen 2001 Journal: Chen 2001 analysis 221 idiopathic chronic pancreatitis individuals - - France - - - - - 1 Hasan Bas
+/. 2 c.47C>T r.(?) p.(Ala16Val) Unknown - pathogenic g.142458412C>T g.142750561C>T p.A16V - PRSS1_000044 The variant was reported at the protein level only PubMed: Rosendahl 2013, Journal: Rosendahl 2013 ClinVar-38363 rs202003805 Germline ? 14/660 cases - - - DNA MCA, SEQ blood - PCTT - PubMed: Rosendahl 2013, Journal: Rosendahl 2013 - - - Germany - - - - - 14 Hasan Bas
+/. - c.47C>T r.(?) p.(Ala16Val) Unknown - pathogenic g.142458412C>T - - - PRSS1_000044 - - - rs202003805 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.49C>A r.(?) p.(Pro17Thr) Unknown - likely pathogenic g.142458414C>A g.142750563C>A - - PRSS1_000062 Authors suggest similar biochemical effect as known pathogenic variant, p.A16V PubMed: Németh 2017, Journal: Németh 2017 - - De novo - - - - - DNA SEQ - - PCTT patient PubMed: Németh 2017 Journal: Németh 2017 - F - Hungary - >30y - - - 1 Hasan Bas
-/. - c.49C>T r.(?) p.(Pro17Ser) Unknown - benign g.142458414C>T g.142750563C>T PRSS1(NM_002769.4):c.49C>T (p.P17S, p.(Pro17Ser)) - PRSS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.49C>T r.(?) p.(Pro17Ser) Unknown - likely benign g.142458414C>T g.142750563C>T PRSS1(NM_002769.4):c.49C>T (p.P17S, p.(Pro17Ser)) - PRSS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.56A>C r.(?) p.(Asp19Ala) Unknown - pathogenic g.142458421A>C g.142750570A>C D19A - PRSS1_000082 - - - - Germline ? - - - - DNA ? - - PCTT case PubMed: Chen 2003, Journal: Chen 2003 - - - France - - - - - 1 Hasan Bas
+/. 2 c.62A>C r.(?) p.(Asp21Ala) Unknown ACMG pathogenic g.142458427A>C g.142750576A>C - - PRSS1_000063 - - - - Germline ? - - - - DNA SEQ-NG blood idiopathic pancreatitis gene panel PCTT - - - M - Turkey Turkish - - - - 1 Hasan Bas
+/. 2 c.68A>G r.(?) p.(Lys23Arg) Unknown - pathogenic g.142458433A>G g.142750582A>G K23R - PRSS1_000083 The variant was reported at the protein level only PubMed: Jalaly 2017, Journal: Jalaly 2017 ClinVar-11878 rs111033567 Germline ? 1/97 acute recurrent idiopathic pancreatitis cases - - - DNA ? - - PCTT case PubMed: Jalaly 2017, Journal: Jalaly 2017 - ? - United States - - - - - 1 Hasan Bas
+/. 2 c.68A>G r.(?) p.(Lys23Arg) Unknown - pathogenic g.142458433A>G g.142750582A>G K23R - PRSS1_000083 The variant was reported at the protein level only PubMed: Jalaly 2017, Journal: Jalaly 2017 ClinVar-11878 rs111033567 Germline ? 1/59 "an unexplained first episode of AP <35 years of age" cases - - - DNA ? - - PCTT case PubMed: Jalaly 2017, Journal: Jalaly 2017 - ? ? United States - - - - - 1 Hasan Bas
+/. - c.86A>C r.(?) p.(Asn29Thr) Parent #1 - pathogenic g.142458451A>C g.142750600A>C - - PRSS1_000008 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - - COXPD11, PCTT - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, affectedmother and son F;M - United States - - - - - 1 Johan den Dunnen
+/. 2 c.86A>C r.(?) p.(Asn29Thr) Unknown - pathogenic g.142458451A>C g.142750600A>C - - PRSS1_000008 - PubMed: Murali 2021, Journal: Murali 2021 ClinVar-38366 rs111033566 Germline - 1/189 kindreds - - - DNA ?, SEQ, SEQ-NG, - - - cancer, pancreatic, PCTT case PubMed: Murali 2021, Journal: Murali 2021 analysis 189 pancreatic ductal adenocarcinoma kindreds M - Australia - - - - - 2 Hasan Bas
+/. 2 c.86A>C r.(?) p.(Asn29Thr) Unknown - pathogenic g.142458451A>C g.142750600A>C p.N29T - PRSS1_000008 The variant was reported at the protein level only PubMed: Rosendahl 2013, Journal: Rosendahl 2013 ClinVar-38366 rs111033566 Germline ? 1/660 cases - - - DNA SEQ blood - PCTT - PubMed: Rosendahl 2013, Journal: Rosendahl 2013 - - - Germany - - - - - 1 Hasan Bas
+?/. - c.86A>C r.(?) p.(Asn29Thr) Unknown - likely pathogenic g.142458451A>C - PRSS1(NM_002769.5):c.86A>C (p.N29T) - PRSS1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.86A>T r.(?) p.(Asn29Ile) Parent #1 - pathogenic g.142458451A>T g.142750600A>T - - PRSS1_000006 in combination withc.592-8C>T + c.592-11C>T (IVS4) - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. 2 c.86A>T r.(?) p.(Asn29Ile) Unknown - pathogenic g.142458451A>T g.142750600A>T - - PRSS1_000006 - PubMed: Murali 2021, Journal: Murali 2021 ClinVar-11877 rs111033566 Germline - 1/189 kindreds - - - DNA SEQ, SEQ-NG, - - - cancer, pancreatic, PCTT case PubMed: Murali 2021, Journal: Murali 2021 analysis 189 pancreatic ductal adenocarcinoma kindreds F - Australia - - - - - 4 Hasan Bas
+/. 2 c.86A>T r.(?) p.(Asn29Ile) Unknown - pathogenic g.142458451A>T g.142750600A>T N29I - PRSS1_000006 - PubMed: Tautermann 2001, Journal: Tautermann 2001 ClinVar-11877 rs111033566 Germline ? 1/109 cases - - - DNA RFLP blood - PCTT Case PubMed: Tautermann 2001, Journal: Tautermann 2001 - F - Austria - - - - - 1 Hasan Bas
+/. 2 c.86A>T r.(?) p.(Asn29Ile) Unknown - pathogenic g.142458451A>T g.142750600A>T p.N29I - PRSS1_000006 The variant was reported at the protein level only PubMed: Rosendahl 2013, Journal: Rosendahl 2013 ClinVar-11877 rs111033566 Germline ? 8/660 cases - - - DNA MCA, SEQ blood - PCTT - PubMed: Rosendahl 2013, Journal: Rosendahl 2013 - - - Germany - - - - - 8 Hasan Bas
?/. - c.86A>T r.(?) p.(Asn29Ile) Parent #1 - VUS g.142458451A>T g.142750600A>T c.86A>T (N29I) - PRSS1_000006 - PubMed: Sajan 2019 - - Germline - - - - - DNA SEQ-NG - trio WES RLSDF Pat1 PubMed: Sajan 2019 -generation family, 1 affected, unaffected heterozygous parents - - United States - - - - - 1 Johan den Dunnen
+/. - c.86A>T r.(?) p.(Asn29Ile) Unknown - pathogenic g.142458451A>T g.142750600A>T - - PRSS1_000006 - - - - Germline - - - - - DNA SEQ-NG - - MINAS - - - F - Singapore - - - - - 1 Jeanette Yuen
?/. 2 c.107C>G r.(?) p.(Pro36Arg) Unknown - VUS g.142458472C>G g.142750621C>G P36R - PRSS1_000071 - PubMed: Chen 2001, Journal: Chen 2001 ClinVar-459181 rs769459903 Germline - 1/221 cases - - - DNA DGGE blood - PCTT case PubMed: Chen 2001, Journal: Chen 2001 analysis 221 idiopathic chronic pancreatitis individuals ? - France - - - - - 1 Hasan Bas
+?/. 2 c.116T>C r.(?) p.(Val39Ala) Unknown - likely pathogenic g.142458481T>C g.142750630T>C - - PRSS1_000073 - PubMed: Arduino 2005, Journal: Arduino 2005 - rs397507439 Germline yes - - - - DNA DGGE, PCR, SEQ - - PCTT - PubMed: Arduino 2005, Journal: Arduino 2005 - M - Italy - - - - - 7 Hasan Bas
-?/. - c.121C>T r.(?) p.(Leu41=) Unknown - likely benign g.142458486C>T g.142750635C>T PRSS1(NM_002769.4):c.121C>T (p.L41=) - PRSS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.146G>T r.(?) p.(Gly49Val) Unknown - VUS g.142458511G>T g.142750660G>T PRSS1(NM_002769.4):c.146G>T (p.G49V) - PRSS1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161A>G r.(?) p.(Asn54Ser) Unknown - likely benign g.142458526A>G - PRSS1(NM_002769.5):c.161A>G (p.N54S), PRSS2(NM_001303414.1):c.161A>G (p.N54S) - PRSS1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161A>G r.(?) p.(Asn54Ser) Unknown - VUS g.142458526A>G - PRSS1(NM_002769.5):c.161A>G (p.N54S), PRSS2(NM_001303414.1):c.161A>G (p.N54S) - PRSS1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.200+1G>A r.spl? p.? Unknown - VUS g.142458566G>A - PRSS1(NM_002769.5):c.200+1G>A - PRSS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.200+13C>T r.(=) p.(=) Unknown - likely benign g.142458578C>T g.142750727C>T - - PRSS1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.200+44C>G r.(=) p.(=) Parent #1 - benign g.142458609C>G g.142750758C>G - - PRSS1_000007 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.200+45T>G r.(=) p.(=) Parent #1 - benign g.142458610T>G g.142750759T>G - - PRSS1_000001 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.200+402A>T r.(=) p.(=) Unknown - benign g.142458967A>T g.142751116A>T PRSS1(NM_002769.5):c.200+402A>T - PRSS1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.200+407T>C r.(=) p.(=) Unknown - benign g.142458972T>C g.142751121T>C PRSS1(NM_002769.5):c.200+407T>C - PRSS1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.202C>T r.(?) p.(Arg68Cys) Unknown - benign g.142459626C>T g.142751775C>T PRSS1(NM_002769.4):c.202C>T (p.R68C) - PRSS1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.234C>T r.(?) p.(Ile78=) Unknown - likely benign g.142459658C>T g.142751807C>T PRSS1(NM_002769.4):c.234C>T (p.I78=) - PRSS1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235G>A r.(?) p.(Glu79Lys) Unknown - VUS g.142459659G>A g.142751808G>A - - PRSS1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.235G>A r.(?) p.(Glu79Lys) Unknown - VUS g.142459659G>A g.142751808G>A E79K - PRSS1_000057 - PubMed: Chen 2001, Journal: Chen 2001 ClinVar- 11880 rs111033564 Germline - 1/221 cases - - - DNA DGGE blood - PCTT case PubMed: Chen 2001, Journal: Chen 2001 analysis 221 idiopathic chronic pancreatitis individuals - - France - - - - - 1 Hasan Bas
?/. 3 c.235G>A r.(?) p.(Glu79Lys) Unknown - VUS g.142459659G>A g.142751808G>A E79K - PRSS1_000057 The variant is found in 2 healthy controls in addition to 1 affected patient with idiopathic chronic pancreatitis PubMed: Chen 2001 Journal: Chen 2001 ClinVar-11880 rs111033564 Germline - 2/400 controls - - - DNA DGGE blood - Healthy/Control control PubMed: Chen 2001, Journal: Chen 2001 analysis 400 controls ? - France - - - - - 2 Hasan Bas
?/. 3 c.248G>A r.(?) p.(Gly83Glu) Unknown - VUS g.142459672G>A g.142751821G>A G83E - PRSS1_000070 - PubMed: Chen 2001, Journal: Chen 2001 - - Germline - 1/221 cases - - - DNA DGGE blood - PCTT case PubMed: Chen 2001, Journal: Chen 2001 analysis 221 idiopathic chronic pancreatitis individuals ? - France - - - - - 1 Hasan Bas
?/. 3 c.276G>T r.(?) p.(Lys92Asn) Unknown - VUS g.142459700G>T g.142751849G>T K92N - PRSS1_000069 - PubMed: Chen 2001, Journal: Chen 2001 - - Germline ? 1/221 cases - - - DNA DGGE blood - PCTT case PubMed: Chen 2001, Journal: Chen 2001 analysis 221 idiopathic chronic pancreatitis individuals ? - France - - - - - 1 Hasan Bas
+?/. 3 c.298G>C r.(?) p.(Asp100His) Unknown - likely pathogenic g.142459722G>C g.142751871G>C - - PRSS1_000074 - PubMed: Hamoir 2013, Journal: Hamoir 2013 - - Germline - 1/351 cases - - - DNA MLPA, PCRm, SEQ - - PCTT Case #35 PubMed: Hamoir 2013, Journal: Hamoir 2013 - M - Belgium - - - - - 1 Hasan Bas
?/. 3 c.298G>C r.(?) p.(Asp100His) Unknown - VUS g.142459722G>C g.142751871G>C - - PRSS1_000074 - PubMed: Tautermann 2001, Journal: Tautermann 2001 - - Germline ? 1/109 cases - - - DNA RFLP blood - PCTT Case PubMed: Tautermann 2001, Journal: Tautermann 2001 - M - Austria - - - - - 1 Hasan Bas
?/. 3 c.310C>G r.(?) p.(Leu104Val) Unknown ACMG VUS g.142459734C>G g.142751883C>G - - PRSS1_000064 - - - - Germline ? - - - - DNA SEQ-NG blood idiopathic pancreatitis gene panel PCTT - - - F - Turkey Turkey - - yes - 1 Hasan Bas
?/. 3 c.310C>G r.(?) p.(Leu104Val) Maternal (inferred) ACMG VUS g.142459734C>G g.142751883C>G - - PRSS1_000064 - - - - Germline - - - - - DNA SEQ-NG blood - Healthy/Control - - - M - Turkey Turkey - - - - 1 Hasan Bas
?/. 3 c.310C>G r.(?) p.(Leu104Val) Unknown - VUS g.142459734C>G g.142751883C>G - - PRSS1_000064 variant also found in 2 healthy male relatives PubMed: Gou 2013, Journal: Gou 2013 - - Germline - - - - - DNA SEQ blood - ? FamPat2 PubMed: Gou 2013, Journal: Gou 2013 3-generation family, 3 affected (3F) F - China - - - - - 3 Hasan Bas
?/. 3 c.310C>G r.(?) p.(Leu104Val) Maternal (confirmed) - VUS g.142459734C>G g.142751883C>G 310C>G - PRSS1_000064 variant also found in 2 healthy male relatives PubMed: Gou 2013 - - Germline - - - - - DNA SEQ blood - ? FamPat3 PubMed: Gou 2013 daughter F - China - - - - - 1 Hasan Bas
+?/. 3 c.311T>C r.(?) p.(Leu104Pro) Paternal (confirmed) - likely pathogenic g.142459735T>C g.142751884T>C - - PRSS1_000075 - PubMed: Enea 2019, Journal: Enea 2019 ClinVar-440201 rs1554499091 Germline yes - - - - DNA ? - - PCTT Case 1 PubMed: Enea 2019, Journal: Enea 2019 - F - Italy - - - - - 2 Hasan Bas
+?/. 3 c.311T>C r.(?) p.(Leu104Pro) Unknown - likely pathogenic g.142459735T>C g.142751884T>C - - PRSS1_000075 - PubMed: Enea 2019, Journal: Enea 2019 ClinVar-440201 rs1554499091 Germline yes - - - - DNA ? - - PCTT Case 2 PubMed: Enea 2019, Journal: Enea 2019 - M - Italy - - - - - 2 Hasan Bas
+?/. 3 c.311T>C r.(?) p.(Leu104Pro) Unknown - likely pathogenic g.142459735T>C g.142751884T>C - - PRSS1_000075 - PubMed: Sofia 2016, Journal: Sofia 2016 ClinVar-440201 rs1554499091 Germline ? 1/80 cases - - - DNA SEQ-NG blood - PCTT Pat4 PubMed: Sofia 2016, Journal: Sofia 2016 - - - Italy - - - - - 1 Hasan Bas
+?/. 3 c.346C>T r.(?) p.(Arg116Cys) Unknown - likely pathogenic g.142459770C>T g.142751919C>T R116C - PRSS1_000076 The variant was reported at the protein level only PubMed: Tautermann 2001, Journal: Tautermann 2001 ClinVar-29923 rs387906698 Germline ? 1/109 cases - - - DNA RFLP blood - PCTT FamPatRD PubMed: Tautermann 2001, Journal: Tautermann 2001 2-generation family, father M - Austria Turkish - - - - 2 Hasan Bas
+?/. 3 c.346C>T r.(?) p.(Arg116Cys) Unknown - likely pathogenic g.142459770C>T g.142751919C>T R116C - PRSS1_000076 The variant was reported at the protein level only PubMed: Tautermann 2001, Journal: Tautermann 2001 ClinVar-29923 rs387906698 Germline ? - - - - DNA RFLP blood - Healthy/Control - PubMed: Tautermann 2001, Journal: Tautermann 2001 - - - Austria Turkish - - - - 2 Hasan Bas
+/. 3 c.346C>T r.(?) p.(Arg116Cys) Unknown - pathogenic g.142459770C>T g.142751919C>T p.R116C - PRSS1_000076 The variant was reported at the protein level only PubMed: Rosendahl 2013, Journal: Rosendahl 2013 ClinVar-29923 rs387906698 Germline ? 2/660 cases - - - DNA MCA, SEQ blood - PCTT - PubMed: Rosendahl 2013, Journal: Rosendahl 2013 - - - Germany - - - - - 2 Hasan Bas
+?/. 3 c.346C>T r.(?) p.(Arg116Cys) Paternal (confirmed) - likely pathogenic g.142459770C>T g.142751919C>T R116C - PRSS1_000076 The variant was reported at the protein level only PubMed: Tautermann 2001, Journal: Tautermann 2001 ClinVar-29923 rs387906698 Germline ? 1/109 cases - - - DNA RFLP blood - PCTT - PubMed: Tautermann 2001, Journal: Tautermann 2001 daughter - - Austria Turkish - - - - 1 Hasan Bas
+/. - c.364C>T r.(?) p.(Arg122Cys) Parent #1 - pathogenic g.142459788C>T g.142751937C>T - - PRSS1_000002 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.364C>T r.(?) p.(Arg122Cys) Unknown - likely pathogenic g.142459788C>T g.142751937C>T PRSS1(NM_002769.5):c.364C>T (p.R122C) - PRSS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.364C>T r.(?) p.(Arg122Cys) Unknown - likely pathogenic g.142459788C>T g.142751937C>T PRSS1(NM_002769.5):c.364C>T (p.R122C) - PRSS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.364C>T r.(?) p.(Arg122Cys) Unknown ACMG pathogenic g.142459788C>T g.142751937C>T - - PRSS1_000002 - - ClinVar-11883 rs111033568 Germline ? - - - - DNA SEQ-NG blood idiopathic pancreatitis gene panel PCTT - - - M - Turkey Turkish - - - - 1 Hasan Bas
+/. 3 c.364C>T r.(?) p.(Arg122Cys) Unknown - pathogenic g.142459788C>T g.142751937C>T p.R122C - PRSS1_000002 The variant was reported at the protein level only PubMed: Rosendahl 2013, Journal: Rosendahl 2013 ClinVar-11883 rs111033568 Germline ? 5/660 - - - DNA MCA, SEQ blood - PCTT - PubMed: Rosendahl 2013, Journal: Rosendahl 2013 - - - Germany - - - - - 5 Hasan Bas
+/. - c.365G>A r.(?) p.(Arg122His) Parent #1 - pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.365G>A r.(?) p.(Arg122His) Unknown - likely pathogenic g.142459789G>A g.142751938G>A PRSS1(NM_002769.4):c.365G>A (p.R122H), PRSS1(NM_002769.5):c.365G>A (p.R122H), PRSS2(NM_001303414.1):c.407G>A (p.R136H) - PRSS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.365G>A r.(?) p.(Arg122His) Unknown - likely pathogenic g.142459789G>A g.142751938G>A PRSS1(NM_002769.4):c.365G>A (p.R122H), PRSS1(NM_002769.5):c.365G>A (p.R122H), PRSS2(NM_001303414.1):c.407G>A (p.R136H) - PRSS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.365G>A r.(?) p.(Arg122His) Unknown - pathogenic g.142459789G>A - PRSS1(NM_002769.4):c.365G>A (p.R122H), PRSS1(NM_002769.5):c.365G>A (p.R122H), PRSS2(NM_001303414.1):c.407G>A (p.R136H) - PRSS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown ACMG pathogenic g.142459789G>A - - - PRSS1_000003 - - ClinVar-11876 rs111033565 Germline ? - - - - DNA SEQ-NG Blood idiopathic pancreatitis gene panel PCTT - - - F - Turkey Turkish - - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown ACMG pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - - ClinVar-11876 rs111033565 Germline ? - - - - DNA SEQ-NG blood idiopathic pancreatitis gene panel PCTT - - - F - Turkey Turkish - - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown ACMG pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - - ClinVar-11876 rs111033565 Germline ? - - - - DNA SEQ-NG blood idiopathic pancreatitis gene panel PCTT - - - M - Turkey Turkish >41y - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown ACMG pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - - ClinVar-11876 rs111033565 Germline - - - - - DNA SEQ-NG blood idiopathic pancreatitis gene panel PCTT - - - M - Turkey Turkish - - - - 1 Hasan Bas
+/. 2 c.365G>A r.(?) p.(Arg122His) Parent #1 - pathogenic (dominant) g.142459789G>A g.142751938G>A R117H - PRSS1_000003 - PubMed: Truninger 2001, Journal: Truninger 2001 - rs111033565 Germline yes - - - - DNA SEQ blood - PCTT family PubMed: Truninger 2001, {DOI:Truninger 2001:11138965:10.1097/00006676-200101000-00003} 5-generation family, 7 affected (5F, 2M) F;M - Germany - - - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - PubMed: Marfil-Garza 2021, Journal: Marfil-Garza 2021 ClinVar-11876 rs111033565 Germline - - - - - DNA ? - - PCTT - PubMed: Marfil-Garza 2021, Journal: Marfil-Garza 2021 - F - - - - - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown ACMG pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - PubMed: Ellison 2020, Journal: Ellison 2020 ClinVar-11876 rs111033565 Germline - 1/100 individuals - - - DNA SEQ-NG saliva - PCTT case PubMed: Ellison 2020, Journal: Ellison 2020 analysis 100 pancreatitis patients - - United States - - - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - pathogenic g.142459789G>A g.142751938G>A R122H - PRSS1_000003 - PubMed: Tautermann 2001, Journal: Tautermann 2001 ClinVar-11876 rs111033565 Germline - 2/109 cases - - - DNA RFLP blood - PCTT Case PubMed: Tautermann 2001, Journal: Tautermann 2001 - F - Austria - - - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - pathogenic g.142459789G>A g.142751938G>A R122H - PRSS1_000003 - PubMed: Tautermann 2001, Journal: Tautermann 2001 ClinVar-11876 rs111033565 Germline ? 2/109 cases - - - DNA RFLP blood - PCTT Case PubMed: Tautermann 2001, Journal: Tautermann 2001 - M - Austria - - - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - pathogenic g.142459789G>A g.142751938G>A p.R122H - PRSS1_000003 The variant was reported at the protein level only PubMed: Rosendahl 2013, Journal: Rosendahl 2013 ClinVar-11876 rs111033565 Germline ? 25/660 cases - - - DNA MCA, SEQ blood - PCTT - PubMed: Rosendahl 2013, Journal: Rosendahl 2013 - - - Germany - - - - - 25 Hasan Bas
+?/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - likely pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - PubMed: Sofia 2016, Journal: Sofia 2016 ClinVar-11876 rs111033565 Germline ? 2/80 cases - - - DNA SEQ-NG blood - PCTT Pat72 PubMed: Sofia 2016, Journal: Sofia 2016 - - - Italy - - - - - 1 Hasan Bas
+?/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - likely pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - PubMed: Sofia 2016, Journal: Sofia 2016 ClinVar-11876 rs111033565 Germline ? 2/80 cases - - - DNA SEQ-NG blood - PCTT pat69 PubMed: Sofia 2016, Journal: Sofia 2016 - - - Italy - - - - - 1 Hasan Bas
+?/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - likely pathogenic g.142459789G>A g.142751938G>A R122R/H - PRSS1_000003 The variant was reported at the protein level only PubMed: Saito 2016, Journal: Saito 2016 ClinVar-11876 rs111033565 Germline ? 19/128 cases - - - DNA SEQ blood - PCTT - PubMed: Saito 2016, Journal: Saito 2016 - - - Japan - - - - - 10 Hasan Bas
+?/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - likely pathogenic g.142459789G>A g.142751938G>A R122R/H - PRSS1_000003 The variant was reported at the protein level only PubMed: Saito 2016, Journal: Saito 2016 ClinVar-11876 rs111033565 Germline ? 19/128 cases - - - DNA SEQ blood - PCTT - PubMed: Saito 2016, Journal: Saito 2016 - - - Turkey - - - - - 9 Hasan Bas
+/. 3 c.365_366delinsAT r.(?) p.(Arg122His) Unknown - likely pathogenic g.142459789_142459790delinsAT g.142751938_142751939delinsAT CGC>CAT R122H - PRSS1_000072 - PubMed: Chen 2001, Journal: Chen 2001 ClinVar-11882 rs267606982 Germline - 1/221 cases - - - DNA DGGE blood - PCTT case PubMed: Chen 2001, Journal: Chen 2001 analysis 221 idiopathic chronic pancreatitis individuals ? - France - - - - - 1 Hasan Bas
+?/. 3 c.367G>A r.(?) p.(Val123Met) Unknown - VUS g.142459791G>A g.142751940G>A V123M - PRSS1_000068 - PubMed: Chen 2001, Journal: Chen 2001 ClinVar-411136 rs144403091 Germline - 1/221 cases - - - DNA DGGE blood - PCTT case analysis 221 idiopathic chronic pancreatitis individuals - - - France - - - - - 1 Hasan Bas
?/. 3 c.371C>T r.(?) p.(Ser124Phe) Unknown - VUS g.142459795C>T g.142751944C>T p.S124F - PRSS1_000077 The variant was reported at the protein level only PubMed: Rosendahl 2013, Journal: Rosendahl 2013 - rs1484849588 Germline ? 1/660 cases - - - DNA MCA, SEQ blood - PCTT case PubMed: Rosendahl 2013, Journal: Rosendahl 2013 - ? ? Germany - - - - - 1 Hasan Bas
-?/. - c.400G>A r.(?) p.(Ala134Thr) Unknown - likely benign g.142459824G>A g.142751973G>A PRSS1(NM_002769.4):c.400G>A (p.A134T) - PRSS1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.416G>T r.(?) p.(Cys139Phe) Unknown - likely pathogenic g.142459840G>T g.142751989G>T - - PRSS1_000078 - PubMed: Sofia 2016, Journal: Sofia 2016 ClinVar-618848 rs768853338 Germline ? 2/80 cases - - - DNA SEQ-NG blood - PCTT Pat35 PubMed: Sofia 2016, Journal: Sofia 2016 - ? - Italy - - - - - 1 Hasan Bas
+?/. 3 c.416G>T r.(?) p.(Cys139Phe) Unknown - likely pathogenic g.142459840G>T g.142751989G>T - - PRSS1_000078 - PubMed: Sofia 2016, Journal: Sofia 2016 ClinVar-618848 rs768853338 Germline ? 2/80 cases - - - DNA SEQ-NG blood - PCTT Pat29 PubMed: Sofia 2016, Journal: Sofia 2016 - - - Italy - - - - - 1 Hasan Bas
-?/. - c.417C>T r.(=) p.(=) Unknown - likely benign g.142459841C>T - - - PRSS1_000067 - PubMed: Gou 2013, Journal: Gou 2013 - - Germline - - - - - DNA SEQ - - ? control PubMed: Gou 2013, Journal: Gou 2013 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.447C>T r.(?) p.(Ser149=) Unknown - likely benign g.142459871C>T g.142752020C>T PRSS1(NM_002769.4):c.447C>T (p.S149=) - PRSS1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.454G>A r.(?) p.(Ala152Thr) Unknown - VUS g.142459878G>A - - - PRSS1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.455-21T>A r.(?), r.spl? p.(=), p.(?) Unknown ACMG benign g.142460261T>A g.142752410T>A - - PRSS1_000084 - - - rs201825825 Germline - - - - - DNA SEQ-NG blood - Healthy/Control - - - F - Turkey - - - - - 1 Hasan Bas
-/. - c.486T>C r.(?) p.(Asp162=) Unknown - benign g.142460313T>C g.142752462T>C PRSS1(NM_002769.5):c.486T>C (p.(Asp162=), p.D162=) - PRSS1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.486T>C r.(?) p.(Asp162=) Unknown - benign g.142460313T>C g.142752462T>C PRSS1(NM_002769.5):c.486T>C (p.(Asp162=), p.D162=) - PRSS1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.486T>C r.(?) p.(Asp162=) Unknown - benign g.142460313T>C g.142752462T>C PRSS1(NM_002769.5):c.486T>C (p.(Asp162=), p.D162=) - PRSS1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.486T>C r.(=) p.(Asp162=) Unknown ACMG benign g.142460313T>C g.142752462T>C - - PRSS1_000053 The authors reported the variant as a "risk variant haplotype in homozygotes" PubMed: Ellison 2020, Journal: Ellison 2020 ClinVar-239391 rs6666 Germline - 6.10E−01 in 100 individuals - - - DNA SEQ-NG saliva - PCTT case PubMed: Ellison 2020, Journal: Ellison 2020 analysis 100 pancreatitis patients - - United States - - - - - 1 Hasan Bas
-/. 4 c.486T>C r.(=) p.(Asp162=) Unknown - benign g.142460313T>C g.142752462T>C GAC>GAT (D162D) - PRSS1_000053 - PubMed: Tautermann 2001, Journal: Tautermann 2001 ClinVar-239391 rs6666 Germline ? 44/109 cases - - - DNA RFLP blood - PCTT - PubMed: Tautermann 2001, Journal: Tautermann 2001 - - - Austria - - - - - 44 Hasan Bas
-/. - c.486T>C r.(?) p.(Asp162=) Unknown - benign g.142460313T>C - PRSS1(NM_002769.5):c.486T>C (p.(Asp162=), p.D162=) - PRSS1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.487G>A r.(?) p.(Ala163Thr) Unknown - likely pathogenic g.142460314G>A g.142752463G>A - - PRSS1_000085 - PubMed: Sofia 2016, Journal: Sofia 2016 ClinVar-825253 rs557691366 Germline ? 1/80 cases - - - DNA SEQ-NG blood - PCTT Part51 PubMed: Sofia 2016, Journal: Sofia 2016 - - - Italy - - - - - 1 Hasan Bas
?/. - c.508A>G r.(?) p.(Lys170Glu) Unknown - VUS g.142460335A>G g.142752484A>G PRSS1(NM_002769.5):c.508A>G (p.K170E) - PRSS1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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