### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPINK1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "SPINK1" "serine peptidase inhibitor, Kazal type 1" "5" "q32" "unknown" "NG_008356.2" "UD_132085424503" "" "https://www.LOVD.nl/SPINK1" "" "1" "11244" "6690" "167790" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SPINK1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-09 09:35:33" "00006" "2025-09-05 16:57:15" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00020186" "SPINK1" "serine peptidase inhibitor, Kazal type 1" "001" "NM_003122.3" "" "NP_003113.2" "" "" "" "-120" "321" "240" "147211260" "147204143" "" "0000-00-00 00:00:00" "" "" "00026009" "SPINK1" "transcript variant 3 (removed from reference sequence) (removed from reference sequence)" "000" "NM_001379610.1" "" "NP_001366539.1" "" "" "MANE select" "-94" "319" "240" "1" "1" "00006" "2025-09-05 16:57:15" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00130" "PCTT" "pancreatitis" "AD" "167800" "" "" "" "00006" "2013-05-14 09:29:20" "00006" "2025-09-05 16:49:18" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02742" "TCP" "pancreatitis, calcific, tropical (TCP)" "AD;AR" "608189" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-09 09:37:33" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SPINK1" "00130" "SPINK1" "02742" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00037161" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037162" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037163" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037164" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037165" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00293774" "" "" "" "122" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303264" "" "" "" "1" "" "00006" "{PMID:Venet 2017:328945313}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "Turkey" "Case1" "00303266" "" "" "" "1" "" "00006" "{PMID:Venet 2017:328945313}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "yes" "France" "" "0" "" "" "Algeria" "Case2" "00305017" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308706" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00324401" "" "" "" "1" "" "00006" "{PMID:Barrie 2019:31171569}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat2" "00387934" "" "" "" "1" "" "04138" "{PMID:Németh 2017:29215622} {DOI:Németh 2017:10.1038/ajg.2017.393}" "" "F" "" "Hungary" ">30y" "0" "" "" "" "patient" "00393144" "" "" "" "1" "" "04138" "{PMID:Hamoir 2013:23751316}, {DOI:Hamoir 2013:10.1159/000348439}" "" "M" "" "Belgium" "" "" "" "" "" "Case #35" "00393437" "" "" "" "1" "" "04138" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "" "" "Japan" "" "" "" "" "" "case" "00393438" "" "" "" "1" "" "04138" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "" "" "Japan" "" "" "" "" "" "case" "00393439" "" "" "" "1" "" "04138" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "" "" "Japan" "" "" "" "" "" "case" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00037161" "00198" "00037162" "00198" "00037164" "00198" "00293774" "00198" "00303264" "00198" "00303266" "00198" "00305017" "00198" "00308706" "00000" "00324401" "00198" "00387934" "00130" "00393144" "00130" "00393437" "00130" "00393438" "00130" "00393439" "00130" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00130, 00198, 02742 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000156820" "00198" "00037161" "01164" "Unknown" "" "pancreatitis" "" "" "" "" "" "" "" "" "" "pancreatitis" "" "0000156821" "00198" "00037162" "01164" "Unknown" "" "chronic pancreatitis and diabetes, family history of pancreatitis, a son and two grandchildren with a history of pancreatitis, clinical suspicion of hereditary pancreatitis" "" "" "" "" "" "" "" "" "" "pancreatitis and diabetes" "" "0000156822" "00198" "00037164" "01164" "Unknown" "" "relapsing pancreatitis" "" "" "" "" "" "" "" "" "" "pancreatitis" "" "0000230347" "00198" "00303264" "00006" "Familial, autosomal recessive" "" "see paper; ..." "00y05m" "" "" "" "" "" "" "" "" "exocrine pancreatic insufficiency" "" "0000230348" "00198" "00303266" "00006" "Familial, autosomal recessive" "" "see paper; ..." "00y05m" "" "" "" "" "" "" "" "" "exocrine pancreatic insufficiency" "" "0000242943" "00198" "00324401" "00006" "Isolated (sporadic)" "00y18m" "see paper; ..., typical facial features, microcephaly, wide nasal bridge; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; no seizures and/or distinctive EEG abnormalities; feeding difficulties; skin changes (hemangioma; marble/dry skin); no antibody deficiency; genitourinary tract anomalies; no structural brain anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000286385" "00130" "00393144" "04138" "Isolated (sporadic)" "" "Pancreatitis (HP:0001733)" "" "" "Pancreatitis (HP:0001733)" "" "" "" "" "" "" "Idiopathic pancreatitis" "" "0000286643" "00130" "00393437" "04138" "Unknown" "<16y" "pancreatitis (HP:0001733), abnormal pancreatic duct morphology (HP:0030992)" "" "" "" "" "" "" "" "" "" "recurrent ecute pancreatitis / chronic pancreatitis" "" "0000286644" "00130" "00393438" "04138" "Unknown" "<16y" "pancreatitis (HP:0001733), abnormal pancreatic duct morphology (HP:0030992)" "" "" "" "" "" "" "" "" "" "recurrent acugte pancreatitis / chronic pancreatitis" "" "0000286645" "00130" "00393439" "04138" "Unknown" "<16y" "pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "" "recurrent acute pancreatitis / chronic pancreatitis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037231" "00037161" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037232" "00037162" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037233" "00037163" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037234" "00037164" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037235" "00037165" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000294942" "00293774" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304387" "00303264" "1" "00006" "00006" "2020-06-09 09:43:55" "" "" "SEQ" "DNA" "" "" "0000304390" "00303266" "1" "00006" "00006" "2020-06-09 10:57:57" "" "" "SEQ" "DNA" "" "" "0000306146" "00305017" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309851" "00308706" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000325591" "00324401" "1" "00006" "00006" "2020-12-11 14:09:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000389170" "00387934" "1" "04138" "04138" "2021-10-31 20:55:17" "" "" "SEQ" "DNA" "" "" "0000394392" "00393144" "1" "04138" "04138" "2021-11-25 21:42:14" "" "" "MLPA;PCRm;SEQ" "DNA" "" "" "0000394685" "00393437" "1" "04138" "04138" "2021-11-29 22:09:02" "" "" "SEQ" "DNA" "blood" "" "0000394686" "00393438" "1" "04138" "04138" "2021-11-29 22:25:35" "" "" "SEQ" "DNA" "blood" "" "0000394687" "00393439" "1" "04138" "04138" "2021-11-29 22:44:33" "" "" "SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{geneid}}" "0000037231" "SPINK1" "0000037232" "SPINK1" "0000037233" "SPINK1" "0000037234" "SPINK1" "0000037235" "SPINK1" "0000304387" "SPINK1" "0000304390" "SPINK1" "0000309851" "SPINK1" "0000325591" "WHSC1" "0000389170" "CPA1" "0000389170" "CTRC" "0000389170" "PRSS1" "0000389170" "SPINK1" "0000394392" "CFTR" "0000394392" "PRSS1" "0000394392" "SPINK1" "0000394685" "CPA1" "0000394685" "CTRC" "0000394685" "PRSS1" "0000394685" "SPINK1" "0000394686" "CPA1" "0000394686" "CTRC" "0000394686" "PRSS1" "0000394686" "SPINK1" "0000394687" "CPA1" "0000394687" "CTRC" "0000394687" "PRSS1" "0000394687" "SPINK1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 37 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000064356" "1" "50" "5" "147211162" "147211162" "subst" "0" "01164" "SPINK1_000004" "g.147211162G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147831599G>C" "" "VUS" "" "0000064357" "1" "10" "5" "147207714" "147207714" "subst" "0.0025089" "01164" "SPINK1_000003" "g.147207714T>A" "" "" "" "" "in a patient in combination with PRSS1 pathogenic mutation p.Arg122His" "Germline" "" "" "0" "" "" "g.147828151T>A" "" "benign" "" "0000064358" "1" "90" "5" "147207678" "147207678" "subst" "0.00915325" "01164" "SPINK1_000002" "g.147207678T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147828115T>C" "" "pathogenic" "" "0000064359" "1" "90" "5" "147207663" "147207663" "subst" "0" "01164" "SPINK1_000001" "g.147207663C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147828100C>T" "" "pathogenic" "" "0000064360" "1" "10" "5" "147207616" "147207616" "subst" "0.00446865" "01164" "SPINK1_000005" "g.147207616G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147828053G>A" "" "benign" "" "0000315599" "0" "30" "5" "147207616" "147207616" "subst" "0.00446865" "01943" "SPINK1_000005" "g.147207616G>A" "" "" "" "SPINK1(NM_003122.4):c.163C>T (p.P55S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147828053G>A" "" "likely benign" "" "0000315600" "0" "50" "5" "147207585" "147207585" "subst" "0.000537357" "01943" "SPINK1_000006" "g.147207585C>T" "" "" "" "SPINK1(NM_003122.3):c.194G>A (p.(Arg65Gln)), SPINK1(NM_003122.4):c.194G>A (p.R65Q), SPINK1(NM_003122.5):c.194G>A (p.R65Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147828022C>T" "" "VUS" "" "0000343252" "0" "10" "5" "147204264" "147204264" "subst" "0.0024236" "02327" "SPINK1_000008" "g.147204264C>T" "" "" "" "SPINK1(NM_003122.5):c.200G>A (p.R67H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147824701C>T" "" "benign" "" "0000524692" "0" "50" "5" "147204264" "147204264" "subst" "0.0024236" "02325" "SPINK1_000008" "g.147204264C>T" "" "" "" "SPINK1(NM_003122.5):c.200G>A (p.R67H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147824701C>T" "" "VUS" "" "0000524693" "0" "50" "5" "147204266" "147204266" "subst" "0.000191801" "01943" "SPINK1_000009" "g.147204266T>G" "" "" "" "SPINK1(NM_001354966.1):c.198A>C (p.K66N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147824703T>G" "" "VUS" "" "0000524694" "0" "90" "5" "147207583" "147207583" "subst" "0.000307713" "02327" "SPINK1_000010" "g.147207583A>G" "" "" "" "SPINK1(NM_003122.5):c.194+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147828020A>G" "" "pathogenic" "" "0000524695" "0" "90" "5" "147207583" "147207583" "subst" "0.000307713" "02325" "SPINK1_000010" "g.147207583A>G" "" "" "" "SPINK1(NM_003122.5):c.194+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147828020A>G" "" "pathogenic" "" "0000524696" "0" "70" "5" "147207585" "147207585" "subst" "0.000537357" "02327" "SPINK1_000006" "g.147207585C>T" "" "" "" "SPINK1(NM_003122.3):c.194G>A (p.(Arg65Gln)), SPINK1(NM_003122.4):c.194G>A (p.R65Q), SPINK1(NM_003122.5):c.194G>A (p.R65Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147828022C>T" "" "likely pathogenic" "" "0000524697" "0" "70" "5" "147207585" "147207585" "subst" "0.000537357" "02325" "SPINK1_000006" "g.147207585C>T" "" "" "" "SPINK1(NM_003122.3):c.194G>A (p.(Arg65Gln)), SPINK1(NM_003122.4):c.194G>A (p.R65Q), SPINK1(NM_003122.5):c.194G>A (p.R65Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147828022C>T" "" "likely pathogenic" "" "0000524698" "0" "30" "5" "147207616" "147207616" "subst" "0.00446865" "02327" "SPINK1_000005" "g.147207616G>A" "" "" "" "SPINK1(NM_003122.4):c.163C>T (p.P55S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147828053G>A" "" "likely benign" "" "0000524699" "0" "50" "5" "147207678" "147207678" "subst" "0.00915325" "02327" "SPINK1_000002" "g.147207678T>C" "" "" "" "SPINK1(NM_001379610.1):c.101A>G (p.(Asn34Ser)), SPINK1(NM_003122.4):c.101A>G (p.N34S), SPINK1(NM_003122.5):c.101A>G (p.N34S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147828115T>C" "" "VUS" "" "0000524700" "0" "50" "5" "147207678" "147207678" "subst" "0.00915325" "02325" "SPINK1_000002" "g.147207678T>C" "" "" "" "SPINK1(NM_001379610.1):c.101A>G (p.(Asn34Ser)), SPINK1(NM_003122.4):c.101A>G (p.N34S), SPINK1(NM_003122.5):c.101A>G (p.N34S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147828115T>C" "" "VUS" "" "0000524701" "0" "10" "5" "147211105" "147211105" "subst" "0.0072087" "02327" "SPINK1_000011" "g.147211105C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147831542C>G" "" "benign" "" "0000609559" "0" "10" "5" "147204192" "147204192" "subst" "0.0833449" "02327" "SPINK1_000012" "g.147204192G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147824629G>A" "" "benign" "" "0000651631" "1" "50" "5" "147207678" "147207678" "subst" "0.00915325" "03575" "SPINK1_000002" "g.147207678T>C" "122/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "risk factor; 122 heterozygous; {DB:CLININrs17107315}" "Germline" "" "rs17107315" "0" "" "" "g.147828115T>C" "" "VUS" "" "0000655319" "0" "70" "5" "147211100" "147211100" "subst" "0" "02327" "SPINK1_000013" "g.147211100A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147831537A>C" "" "likely pathogenic" "" "0000667828" "3" "90" "5" "147202158" "147239350" "delins" "0" "00006" "SPINK1_000014" "g.147202158_147239350delinsATGAACTACT" "" "{PMID:Venet 2017:328945313}" "" ".-28211_*2066del" "NOTE: break point sequence provided seems to involve inversion, we asked the authors" "Germline" "" "" "0" "" "" "g.147822595_147859787delinsATGAACTACT" "" "pathogenic (recessive)" "" "0000667830" "3" "90" "5" "147204209" "147204210" "ins" "0" "00006" "SPINK1_000015" "g.147204209_147204210ins[MF963044.1:g.61_419]" "" "{PMID:Venet 2017:328945313}, {PMID:Masson 2024:39265574}" "" "AluYb9 ins 359 nt" "no expression variant allele detectable; mechanism studied in 2024 publication" "Germline" "" "" "0" "" "" "g.147824646_147824647ins[MF963044.1:g.61_419]" "" "pathogenic (dominant)" "" "0000669834" "3" "50" "5" "147207678" "147207678" "subst" "0.00915325" "03575" "SPINK1_000002" "g.147207678T>C" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "risk factor; 1 homozygous; {DB:CLININrs17107315}" "Germline" "" "rs17107315" "0" "" "" "g.147828115T>C" "" "VUS" "" "0000684753" "0" "30" "5" "147207678" "147207678" "subst" "0.00915325" "00004" "SPINK1_000002" "g.147207678T>C" "frequency 0.020" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.147828115T>C" "" "likely benign" "" "0000689453" "0" "50" "5" "147211088" "147211088" "subst" "0" "01943" "SPINK1_000016" "g.147211088G>A" "" "" "" "SPINK1(NM_001354966.1):c.53C>T (p.S18F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801951" "0" "10" "5" "147207605" "147207605" "subst" "0.0104725" "02327" "SPINK1_000007" "g.147207605G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801952" "0" "50" "5" "147207678" "147207678" "subst" "0.00915325" "02326" "SPINK1_000002" "g.147207678T>C" "" "" "" "SPINK1(NM_001379610.1):c.101A>G (p.(Asn34Ser)), SPINK1(NM_003122.4):c.101A>G (p.N34S), SPINK1(NM_003122.5):c.101A>G (p.N34S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000818055" "21" "70" "5" "147207678" "147207678" "subst" "0.00915325" "04138" "SPINK1_000002" "g.147207678T>C" "" "{PMID:Németh 2017:29215622}" "" "N34S" "" "Germline" "no" "rs17107315" "0" "" "" "" "{CV:13760}" "likely pathogenic" "" "0000825307" "0" "70" "5" "147207616" "147207616" "subst" "0.00446865" "04138" "SPINK1_000005" "g.147207616G>A" "1/351 cases" "{DOI:Hamoir 2013:23751316}, {PMID:Hamoir 2013:10.1159/000348439}" "" "" "Even though the authors state that they excluded polymorphisms, the current classification of this variant would be \"benign\"." "Germline" "" "rs111966833" "" "" "" "g.147828053G>A" "{CV: 36778}" "likely pathogenic" "" "0000825659" "0" "70" "5" "147207678" "147207678" "subst" "0.00915325" "04138" "SPINK1_000002" "g.147207678T>C" "18/128 cases" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "N34N/S" "The variant was reported at the protein level only" "Germline" "?" "rs17107315" "" "" "" "g.147828115T>C" "{CV:13760}" "likely pathogenic" "" "0000825661" "0" "70" "5" "147207583" "147207583" "subst" "0.000307713" "04138" "SPINK1_000010" "g.147207583A>G" "11/128 cases" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "IVS3+2T>C" "" "Germline" "?" "rs148954387" "" "" "" "g.147828020A>G" "{CV:132142}" "likely pathogenic" "" "0000825663" "0" "70" "5" "147207678" "147207678" "subst" "0.00915325" "04138" "SPINK1_000002" "g.147207678T>C" "18/128 cases" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "N34N/S" "The variant was reported at the protein level only" "Germline" "?" "rs17107315" "" "" "" "g.147828115T>C" "{CV:13760}" "likely pathogenic" "" "0000859801" "0" "50" "5" "147211101" "147211101" "subst" "8.15029E-6" "02327" "SPINK1_000017" "g.147211101G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000876100" "21" "70" "5" "147207678" "147207678" "subst" "0.00915325" "00006" "SPINK1_000002" "g.147207678T>C" "" "{PMID:Barrie 2019:31171569}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000924270" "0" "50" "5" "147207585" "147207585" "subst" "0.000537357" "01804" "SPINK1_000006" "g.147207585C>T" "" "" "" "SPINK1(NM_003122.3):c.194G>A (p.(Arg65Gln)), SPINK1(NM_003122.4):c.194G>A (p.R65Q), SPINK1(NM_003122.5):c.194G>A (p.R65Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976636" "0" "50" "5" "147207678" "147207678" "subst" "0.00915325" "01804" "SPINK1_000002" "g.147207678T>C" "" "" "" "SPINK1(NM_001379610.1):c.101A>G (p.(Asn34Ser)), SPINK1(NM_003122.4):c.101A>G (p.N34S), SPINK1(NM_003122.5):c.101A>G (p.N34S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SPINK1 ## Count = 37 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000064356" "00020186" "50" "-22" "0" "-22" "0" "c.-22C>G" "r.(=)" "p.(=)" "" "0000064357" "00020186" "10" "88" "-23" "88" "-23" "c.88-23A>T" "r.(=)" "p.(=)" "" "0000064358" "00020186" "90" "101" "0" "101" "0" "c.101A>G" "r.(=)" "p.(Asn34Ser)" "" "0000064359" "00020186" "90" "116" "0" "116" "0" "c.116G>A" "r.(=)" "p.(Cys39Tyr)" "" "0000064360" "00020186" "10" "163" "0" "163" "0" "c.163C>T" "r.(=)" "p.(Pro55Ser)" "" "0000315599" "00020186" "30" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Pro55Ser)" "" "0000315600" "00020186" "50" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Arg65Gln)" "" "0000343252" "00020186" "10" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67His)" "" "0000524692" "00020186" "50" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67His)" "" "0000524693" "00020186" "50" "198" "0" "198" "0" "c.198A>C" "r.(?)" "p.(Lys66Asn)" "" "0000524694" "00020186" "90" "194" "2" "194" "2" "c.194+2T>C" "r.spl?" "p.?" "" "0000524695" "00020186" "90" "194" "2" "194" "2" "c.194+2T>C" "r.spl?" "p.?" "" "0000524696" "00020186" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Arg65Gln)" "" "0000524697" "00020186" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Arg65Gln)" "" "0000524698" "00020186" "30" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Pro55Ser)" "" "0000524699" "00020186" "50" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Asn34Ser)" "" "0000524700" "00020186" "50" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Asn34Ser)" "" "0000524701" "00020186" "10" "36" "0" "36" "0" "c.36G>C" "r.(?)" "p.(Leu12Phe)" "" "0000609559" "00020186" "10" "272" "0" "272" "0" "c.*32C>T" "r.(=)" "p.(=)" "" "0000651631" "00020186" "50" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Asn34Ser)" "" "0000655319" "00020186" "70" "41" "0" "41" "0" "c.41T>G" "r.(?)" "p.(Leu14Arg)" "" "0000667828" "00020186" "90" "0" "0" "0" "0" "c.0" "r.0?" "p.0?" "" "0000667830" "00020186" "90" "254" "0" "255" "0" "c.*14_*15ins[MF963044.1:g.61_419]" "r.0" "p.0" "" "0000669834" "00020186" "50" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Asn34Ser)" "" "0000684753" "00020186" "30" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Asn34Ser)" "" "0000689453" "00020186" "50" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Ser18Phe)" "" "0000801951" "00020186" "10" "174" "0" "174" "0" "c.174C>T" "r.(?)" "p.(Cys58=)" "" "0000801952" "00020186" "50" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Asn34Ser)" "" "0000818055" "00020186" "70" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Asn34Ser)" "4" "0000825307" "00020186" "70" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Pro55Ser)" "3" "0000825659" "00020186" "70" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Asn34Ser)" "3" "0000825661" "00020186" "70" "194" "2" "194" "2" "c.194+2T>C" "r.spl?" "p.?" "" "0000825663" "00020186" "70" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Asn34Ser)" "3" "0000859801" "00020186" "50" "40" "0" "40" "0" "c.40C>G" "r.(?)" "p.(Leu14Val)" "" "0000876100" "00020186" "70" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Asn34Ser)" "" "0000924270" "00020186" "50" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Arg65Gln)" "" "0000976636" "00020186" "50" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Asn34Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000037231" "0000064356" "0000037232" "0000064357" "0000037233" "0000064358" "0000037234" "0000064359" "0000037235" "0000064360" "0000294942" "0000651631" "0000304387" "0000667828" "0000304390" "0000667830" "0000306146" "0000669834" "0000309851" "0000684753" "0000325591" "0000876100" "0000389170" "0000818055" "0000394392" "0000825307" "0000394685" "0000825659" "0000394686" "0000825661" "0000394687" "0000825663"