Full data view for gene SPINK5

Information The variants shown are described using the NM_001127698.1 transcript reference sequence.

176 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.-19G>A r.(?) p.(=) Unknown - likely benign g.147443589G>A g.148064026G>A SPINK5(NM_001127698.2):c.-19G>A - SPINK5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.13A>C r.(?) p.(Thr5Pro) Unknown - VUS g.147443620A>C - - - SPINK5_000088 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.13A>C r.(?) p.(Thr5Pro) Unknown - VUS g.147443620A>C - - - SPINK5_000088 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.17T>C r.(?) p.(Val6Ala) Unknown - likely benign g.147443624T>C g.148064061T>C SPINK5(NM_001127698.1):c.17T>C (p.V6A) - SPINK5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.56-3C>A r.spl? p.? Unknown - VUS g.147444907C>A - SPINK5(NM_001127698.1):c.56-3C>A (p.?) - SPINK5_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.119G>C r.(?) p.(Gly40Ala) Unknown - likely benign g.147449923G>C - SPINK5(NM_006846.3):c.119G>C (p.G40A), SPINK5(NM_006846.4):c.119G>C (p.(Gly40Ala)) - SPINK5_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.119G>C r.(?) p.(Gly40Ala) Unknown - benign g.147449923G>C - SPINK5(NM_006846.3):c.119G>C (p.G40A), SPINK5(NM_006846.4):c.119G>C (p.(Gly40Ala)) - SPINK5_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.211G>A r.(?) p.(Glu71Lys) Unknown - VUS g.147451712G>A - SPINK5(NM_006846.4):c.211G>A (p.E71K) - SPINK5_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.316G>A r.(?) p.(Asp106Asn) Unknown - benign g.147466001G>A g.148086438G>A SPINK5(NM_001127698.2):c.316G>A (p.D106N) - SPINK5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.377_378del r.(?) p.(Tyr126*) Parent #2 - pathogenic g.147466062_147466063del - - - SPINK5_000081 - - - - Germline - - - - - DNA SEQ-NG - - NETH 84 - - F - China - - - - - 1 Sha Hong
./. - c.394_395del r.(?) p.(Leu132Valfs*3) Unknown - likely pathogenic g.147466079_147466080del g.148086516_148086517del NM_001127698.1(SPINK5):c.394_395del p.(Leu132Valfs*3) - SPINK5_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-743A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
+?/. - c.394_395del r.(?) p.(Leu132Valfs*3) Unknown - likely pathogenic g.147466079_147466080del - SPINK5(NM_006846.3):c.394_395delCT (p.L132Vfs*3) - SPINK5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.418G>A r.(?) p.(Gly140Arg) Unknown - likely benign g.147468112G>A g.148088549G>A SPINK5(NM_001127698.2):c.418G>A (p.G140R) - SPINK5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.452G>A r.(?) p.(Cys151Tyr) Unknown - VUS g.147468146G>A g.148088583G>A SPINK5(NM_001127698.1):c.452G>A (p.C151Y, p.(Cys151Tyr)) - SPINK5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.452G>A r.(?) p.(Cys151Tyr) Unknown - VUS g.147468146G>A - SPINK5(NM_001127698.1):c.452G>A (p.C151Y, p.(Cys151Tyr)) - SPINK5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.475-443A>G r.(=) p.(=) Unknown - benign g.147468614A>G g.148089051A>G SPINK5(NM_001127698.2):c.475-443A>G - SPINK5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.475-243T>G r.(=) p.(=) Unknown - VUS g.147468814T>G - - - SPINK5_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.622G>A r.(?) p.(Ala208Thr) Unknown - likely benign g.147470747G>A g.148091184G>A SPINK5(NM_001127698.1):c.622G>A (p.A208T), SPINK5(NM_006846.3):c.622G>A (p.A208T) - SPINK5_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.622G>A r.(?) p.(Ala208Thr) Unknown - likely benign g.147470747G>A - SPINK5(NM_001127698.1):c.622G>A (p.A208T), SPINK5(NM_006846.3):c.622G>A (p.A208T) - SPINK5_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.649C>T r.(?) p.(Arg217Ter) Unknown - pathogenic g.147470774C>T g.148091211C>T SPINK5(NM_001127698.2):c.649C>T (p.R217*) - SPINK5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.649C>T r.(?) p.(Arg217Ter) Unknown - pathogenic g.147470774C>T - SPINK5(NM_001127698.2):c.649C>T (p.R217*) - SPINK5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.666G>T r.(?) p.(Lys222Asn) Unknown - VUS g.147470791G>T - SPINK5(NM_006846.4):c.666G>T (p.(Lys222Asn)) - SPINK5_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.677A>G r.(?) p.(Lys226Arg) Unknown - likely benign g.147473927A>G - SPINK5(NM_001127698.1):c.677A>G (p.(Lys226Arg)) - SPINK5_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.721C>T r.(?) p.(Arg241Trp) Unknown - VUS g.147473971C>T g.148094408C>T SPINK5(NM_001127698.2):c.721C>T (p.R241W) - SPINK5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.724G>T r.(?) p.(Glu242Ter) Unknown - pathogenic g.147473974G>T g.148094411G>T SPINK5(NM_001127698.2):c.724G>T (p.E242*) - SPINK5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.738C>T r.(?) p.(Val246=) Unknown - benign g.147473988C>T g.148094425C>T SPINK5(NM_001127698.2):c.738C>T (p.V246=) - SPINK5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.750C>T r.(?) p.(=) Unknown - likely benign g.147474000C>T - SPINK5(NM_006846.3):c.750C>T (p.D250=) - SPINK5_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.753C>T r.(?) p.(Gly251=) Unknown - VUS g.147474003C>T g.148094440C>T SPINK5(NM_001127698.1):c.753C>T (p.G251=) - SPINK5_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.794+1del r.spl? p.? Unknown - likely pathogenic g.147474045del - - - SPINK5_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.794+6T>C r.(=) p.(=) Unknown - pathogenic g.147474050T>C g.148094487T>C SPINK5(NM_001127698.2):c.794+6T>C - SPINK5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.799C>A r.(?) p.(Gln267Lys) Unknown - likely benign g.147475385C>A g.148095822C>A SPINK5(NM_001127698.1):c.799C>A (p.Q267K) - SPINK5_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.800A>G r.(?) p.(Gln267Arg) Unknown - benign g.147475386A>G g.148095823A>G SPINK5(NM_001127698.2):c.800A>G (p.Q267R) - SPINK5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.802C>T r.(?) p.(Arg268Cys) Unknown - likely benign g.147475388C>T g.148095825C>T SPINK5(NM_001127698.1):c.802C>T (p.R268C, p.(Arg268Cys)), SPINK5(NM_001127698.2):c.802C>T (p.R268C) - SPINK5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.802C>T r.(?) p.(Arg268Cys) Unknown - benign g.147475388C>T g.148095825C>T SPINK5(NM_001127698.1):c.802C>T (p.R268C, p.(Arg268Cys)), SPINK5(NM_001127698.2):c.802C>T (p.R268C) - SPINK5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.802C>T r.(?) p.(Arg268Cys) Unknown - likely benign g.147475388C>T g.148095825C>T SPINK5(NM_001127698.1):c.802C>T (p.R268C, p.(Arg268Cys)), SPINK5(NM_001127698.2):c.802C>T (p.R268C) - SPINK5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.802C>T r.(?) p.(Arg268Cys) Unknown - likely benign g.147475388C>T g.148095825C>T SPINK5(NM_001127698.1):c.802C>T (p.R268C, p.(Arg268Cys)), SPINK5(NM_001127698.2):c.802C>T (p.R268C) - SPINK5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.882+2T>C r.(?) p.(?) Both (homozygous) - likely pathogenic g.147475470T>C g.148095907T>C SPINK5 c.882+2T>C, - SPINK5_000096 homozygous PubMed: Alabdullatif 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease 6 PubMed: Alabdullatif 2017 - M yes United Arab Emirates - - - - - 1 LOVD
-/. - c.882+20A>G r.(=) p.(=) Unknown - benign g.147475488A>G g.148095925A>G SPINK5(NM_001127698.2):c.882+20A>G - SPINK5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.891C>T r.(?) p.(Cys297=) Unknown - pathogenic g.147477438C>T g.148097875C>T SPINK5(NM_001127698.2):c.891C>T (p.C297=), SPINK5(NM_001127699.2):c.891C>T (p.C297=), SPINK5(NM_006846.4):c.891C>T (p.(Cys297=)) - SPINK5_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.891C>T r.(?) p.(Cys297=) Unknown - pathogenic g.147477438C>T - SPINK5(NM_001127698.2):c.891C>T (p.C297=), SPINK5(NM_001127699.2):c.891C>T (p.C297=), SPINK5(NM_006846.4):c.891C>T (p.(Cys297=)) - SPINK5_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.891C>T r.(?) p.(Cys297=) Unknown - VUS g.147477438C>T - SPINK5(NM_001127698.2):c.891C>T (p.C297=), SPINK5(NM_001127699.2):c.891C>T (p.C297=), SPINK5(NM_006846.4):c.891C>T (p.(Cys297=)) - SPINK5_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.891C>T r.(?) p.(Cys297=) Unknown - VUS g.147477438C>T - SPINK5(NM_001127698.2):c.891C>T (p.C297=), SPINK5(NM_001127699.2):c.891C>T (p.C297=), SPINK5(NM_006846.4):c.891C>T (p.(Cys297=)) - SPINK5_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.896A>G r.(?) p.(Gln299Arg) Unknown - VUS g.147477443A>G - SPINK5(NM_001127698.1):c.896A>G (p.Q299R) - SPINK5_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.957_960dup r.(?) p.(Pro321Trpfs*23) Unknown - likely pathogenic g.147477504_147477507dup - SPINK5(NM_006846.4):c.957_960dup (p.(Pro321Trpfs*23)) - SPINK5_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1004C>T r.(?) p.(Ala335Val) Unknown - benign g.147477551C>T g.148097988C>T SPINK5(NM_001127698.2):c.1004C>T (p.A335V) - SPINK5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1011-12C>T r.(=) p.(=) Unknown - benign g.147478785C>T g.148099222C>T SPINK5(NM_001127698.2):c.1011-12C>T - SPINK5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1011-5T>G r.spl? p.? Unknown - VUS g.147478792T>G - SPINK5(NM_006846.4):c.1011-5T>G - SPINK5_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1092+5G>A r.spl? p.? Unknown - VUS g.147478883G>A - - - SPINK5_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1093-10A>G r.(=) p.(=) Unknown - benign g.147480007A>G g.148100444A>G SPINK5(NM_001127698.2):c.1093-10A>G - SPINK5_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1093-6C>T r.(=) p.(=) Unknown - likely benign g.147480011C>T g.148100448C>T SPINK5(NM_001127698.1):c.1093-6C>T - SPINK5_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1103G>A r.(?) p.(Ser368Asn) Unknown - benign g.147480027G>A g.148100464G>A SPINK5(NM_001127698.2):c.1103G>A (p.S368N) - SPINK5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1132A>C r.(?) p.(Lys378Gln) Unknown - likely benign g.147480056A>C g.148100493A>C SPINK5(NM_001127698.1):c.1132A>C (p.K378Q, p.(Lys378Gln)) - SPINK5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1132A>C r.(?) p.(Lys378Gln) Unknown - likely benign g.147480056A>C - SPINK5(NM_001127698.1):c.1132A>C (p.K378Q, p.(Lys378Gln)) - SPINK5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1156G>A r.(?) p.(Asp386Asn) Unknown - benign g.147480080G>A g.148100517G>A SPINK5(NM_001127698.1):c.1156G>A (p.D386N) - SPINK5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1188T>C r.(?) p.(His396=) Unknown - benign g.147480112T>C g.148100549T>C SPINK5(NM_001127698.2):c.1188T>C (p.H396=) - SPINK5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1237G>A r.(?) p.(Glu413Lys) Unknown - VUS g.147480934G>A - SPINK5(NM_001127698.1):c.1237G>A (p.(Glu413Lys)) - SPINK5_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1258A>G r.(?) p.(Lys420Glu) Unknown - benign g.147480955A>G g.148101392A>G SPINK5(NM_001127698.2):c.1258A>G (p.K420E) - SPINK5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1302+4A>T r.spl? p.? Unknown - pathogenic g.147481003A>T - - - SPINK5_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1302+19G>A r.(=) p.(=) Unknown - benign g.147481018G>A g.148101455G>A SPINK5(NM_001127698.2):c.1302+19G>A - SPINK5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1322G>A r.(?) p.(Arg441His) Unknown - likely benign g.147481363G>A g.148101800G>A SPINK5(NM_001127698.1):c.1322G>A (p.(Arg441His)), SPINK5(NM_001127698.2):c.1322G>A (p.R441H), SPINK5(NM_006846.3):c.1322G>A (p.R441H) - SPINK5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1322G>A r.(?) p.(Arg441His) Unknown - likely benign g.147481363G>A g.148101800G>A SPINK5(NM_001127698.1):c.1322G>A (p.(Arg441His)), SPINK5(NM_001127698.2):c.1322G>A (p.R441H), SPINK5(NM_006846.3):c.1322G>A (p.R441H) - SPINK5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1322G>A r.(?) p.(Arg441His) Unknown - benign g.147481363G>A - SPINK5(NM_001127698.1):c.1322G>A (p.(Arg441His)), SPINK5(NM_001127698.2):c.1322G>A (p.R441H), SPINK5(NM_006846.3):c.1322G>A (p.R441H) - SPINK5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1339G>A r.(?) p.(Gly447Arg) Unknown - VUS g.147481380G>A - - - SPINK5_000089 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1339G>A r.(?) p.(Gly447Arg) Unknown - VUS g.147481380G>A - - - SPINK5_000089 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1379G>T r.(?) p.(Gly460Val) Unknown - VUS g.147481420G>T g.148101857G>T SPINK5(NM_001127698.1):c.1379G>T (p.G460V) - SPINK5_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1389A>G r.(?) p.(Gly463=) Unknown - benign g.147481430A>G g.148101867A>G SPINK5(NM_001127698.2):c.1389A>G (p.G463=) - SPINK5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1401C>T r.(?) p.(Gly467=) Unknown - VUS g.147481442C>T g.148101879C>T SPINK5(NM_001127698.1):c.1401C>T (p.G467=) - SPINK5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1431-12G>A r.(=) p.(=) Unknown - likely pathogenic g.147484503G>A g.148104940G>A SPINK5(NM_001127698.2):c.1431-12G>A, SPINK5(NM_006846.3):c.1431-12G>A, SPINK5(NM_006846.4):c.1431-12G>A - SPINK5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1431-12G>A r.(=) p.(=) Unknown - pathogenic g.147484503G>A - SPINK5(NM_001127698.2):c.1431-12G>A, SPINK5(NM_006846.3):c.1431-12G>A, SPINK5(NM_006846.4):c.1431-12G>A - SPINK5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1431-12G>T r.(=) p.(=) Unknown - likely benign g.147484503G>T g.148104940G>T SPINK5(NM_001127698.2):c.1431-12G>T - SPINK5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1431-10T>G r.(=) p.(=) Unknown - likely benign g.147484505T>G - SPINK5(NM_006846.4):c.1431-10T>G - SPINK5_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1432C>T r.(?) p.(Gln478Ter) Unknown - pathogenic g.147484516C>T g.148104953C>T SPINK5(NM_001127698.2):c.1432C>T (p.Q478*) - SPINK5_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1451G>A r.(?) p.(Arg484Lys) Unknown - likely benign g.147484535G>A g.148104972G>A SPINK5(NM_001127698.1):c.1451G>A (p.(Arg484Lys)), SPINK5(NM_001127698.2):c.1451G>A (p.R484K) - SPINK5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1451G>A r.(?) p.(Arg484Lys) Unknown - likely benign g.147484535G>A - SPINK5(NM_001127698.1):c.1451G>A (p.(Arg484Lys)), SPINK5(NM_001127698.2):c.1451G>A (p.R484K) - SPINK5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1480-10C>A r.(=) p.(=) Unknown - likely benign g.147486590C>A - SPINK5(NM_006846.3):c.1480-10C>A - SPINK5_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1480-3C>T r.spl? p.? Unknown - likely benign g.147486597C>T g.148107034C>T SPINK5(NM_001127698.1):c.1480-3C>T (p.?) - SPINK5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1552C>T r.(?) p.(Arg518Cys) Unknown - likely benign g.147486672C>T - SPINK5(NM_006846.3):c.1552C>T (p.(Arg518Cys)) - SPINK5_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1553G>A r.(?) p.(Arg518His) Unknown - VUS g.147486673G>A - - - SPINK5_000090 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-/. - c.1557C>A r.(?) p.(Gly519=) Unknown - benign g.147486677C>A g.148107114C>A SPINK5(NM_001127698.2):c.1557C>A (p.G519=) - SPINK5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1605G>T r.(?) p.(Val535=) Unknown - likely benign g.147486725G>T g.148107162G>T SPINK5(NM_001127698.1):c.1605G>T (p.V535=, p.(=)), SPINK5(NM_006846.3):c.1605G>T (p.V535=) - SPINK5_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1605G>T r.(?) p.(Val535=) Unknown - likely benign g.147486725G>T - SPINK5(NM_001127698.1):c.1605G>T (p.V535=, p.(=)), SPINK5(NM_006846.3):c.1605G>T (p.V535=) - SPINK5_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1605G>T r.(?) p.(Val535=) Unknown - likely benign g.147486725G>T - SPINK5(NM_001127698.1):c.1605G>T (p.V535=, p.(=)), SPINK5(NM_006846.3):c.1605G>T (p.V535=) - SPINK5_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1658T>C r.(?) p.(Val553Ala) Unknown - VUS g.147488366T>C - SPINK5(NM_001127698.1):c.1658T>C (p.(Val553Ala)) - SPINK5_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1659C>T r.(?) p.(Val553=) Unknown - benign g.147488367C>T g.148108804C>T SPINK5(NM_001127698.2):c.1659C>T (p.V553=) - SPINK5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1693-20G>A r.(=) p.(=) Unknown - likely benign g.147491311G>A g.148111748G>A SPINK5(NM_001127698.2):c.1693-20G>A - SPINK5_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1693-19C>T r.(=) p.(=) Unknown - likely benign g.147491312C>T g.148111749C>T SPINK5(NM_001127698.2):c.1693-19C>T - SPINK5_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1693-7T>C r.(=) p.(=) Unknown - likely benign g.147491324T>C g.148111761T>C SPINK5(NM_001127698.2):c.1693-7T>C - SPINK5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1732C>T r.(?) p.(Arg578*) Unknown - pathogenic g.147491370C>T - SPINK5(NM_006846.4):c.1732C>T (p.R578*) - SPINK5_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1732C>T r.(?) p.(Arg578*) Unknown - pathogenic g.147491370C>T - SPINK5(NM_006846.4):c.1732C>T (p.R578*) - SPINK5_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1764T>G r.(?) p.(Ile588Met) Unknown - benign g.147491402T>G g.148111839T>G SPINK5(NM_001127698.1):c.1764T>G (p.(Ile588Met)), SPINK5(NM_001127698.2):c.1764T>G (p.I588M) - SPINK5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1764T>G r.(?) p.(Ile588Met) Unknown - likely benign g.147491402T>G - SPINK5(NM_001127698.1):c.1764T>G (p.(Ile588Met)), SPINK5(NM_001127698.2):c.1764T>G (p.I588M) - SPINK5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1774G>C r.(?) p.(Asp592His) Unknown - VUS g.147491412G>C - SPINK5(NM_006846.4):c.1774G>C (p.(Asp592His)) - SPINK5_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1820+53G>A r.(=) p.(=) Unknown - pathogenic g.147491511G>A - - - SPINK5_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1845_1848del r.(?) p.(Arg616LeufsTer98) Unknown - likely pathogenic g.147492455_147492458del - SPINK5(NM_001127698.2):c.1845_1848delAAGA (p.R616Lfs*98) - SPINK5_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1887+3A>T r.spl? p.? Unknown - likely pathogenic g.147492500A>T - SPINK5(NM_001127698.1):c.1887+3A>T (p.?) - SPINK5_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1888-3T>C r.spl? p.? Unknown - pathogenic g.147493922T>C - - - SPINK5_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1896C>T r.(?) p.(Cys632=) Unknown - likely benign g.147493933C>T - SPINK5(NM_001127698.1):c.1896C>T (p.C632=) - SPINK5_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1915T>C r.(?) p.(Leu639=) Unknown - likely benign g.147493952T>C g.148114389T>C SPINK5(NM_001127698.1):c.1915T>C (p.L639=) - SPINK5_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1960C>T r.(?) p.(Arg654Cys) Unknown - VUS g.147493997C>T g.148114434C>T SPINK5(NM_001127698.1):c.1960C>T (p.R654C) - SPINK5_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1964G>A r.(?) p.(Gly655Asp) Unknown - VUS g.147494001G>A g.148114438G>A SPINK5(NM_001127698.1):c.1964G>A (p.G655D, p.(Gly655Asp)), SPINK5(NM_006846.4):c.1964G>A (p.G655D) - SPINK5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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