### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SIL1) # 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}}" "SIL1" "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)" "5" "q31" "unknown" "NG_008112.1" "UD_132084513700" "" "http://www.LOVD.nl/SIL1" "" "1" "24624" "64374" "608005" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SIL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2015-11-07 17:28:09" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00000169" "SIL1" "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae), transcript variant 1" "002" "NM_001037633.1" "" "NP_001032722.1" "" "" "" "-206" "1783" "1386" "138534065" "138282409" "00002" "2012-05-11 13:12:19" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00360" "MDC" "dystrophy, muscular, congenital (MDC)" "" "" "" "" "" "00006" "2014-03-21 23:02:36" "00006" "2018-07-03 16:30:02" "00907" "MSS" "Marinesco-Sjogren syndrome (MSS)" "AR" "248800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01897" "CMRD" "chylomicron retention disease" "AR" "246700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05330" "TSC" "tuberous sclerosis" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "00006" "2022-08-19 09:49:37" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SIL1" "00139" "SIL1" "00907" ## 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}}" "00000019" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00054666" "" "" "" "1" "" "01399" "{PMID:O\'Grady 2016:27159402}" "2-generation family, unaffected heterozygous carrier parents" "M" "" "Australia" ">20y" "0" "" "" "" "" "00293758" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00361688" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "11DG1735" "00374490" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3696" "00374491" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3981" "00374492" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5077" "00385464" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14022248" "00388691" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "F" "" "India" "" "0" "" "" "India" "Pat42" "00434095" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "patients" "00444977" "" "" "" "1" "" "00006" "{PMID:Patel 2017:27878435}" "family" "" "" "" "" "0" "" "" "" "14DG0727" "00444979" "" "" "" "1" "" "00006" "{PMID:Patel 2017:27878435}" "simplex case" "" "" "" "" "0" "" "" "" "14DG1505" "00445004" "" "" "" "1" "" "00006" "{PMID:Reis 2013:23508780}" "family, 2 affected" "" "" "United States" "" "0" "" "" "white" "Pat18" "00445351" "" "" "" "2" "" "00006" "{PMID:Jones 2003:12692552}, {PMID:Annesi 2007:17309654}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents; segregation of two diseases" "M" "" "Italy" "" "0" "" "" "" "Fam6PatII1" "00445352" "" "" "00445351" "1" "" "00006" "{PMID:Jones 2003:12692552}, {PMID:Annesi 2007:17309654}" "brother" "M" "" "Italy" "" "0" "" "" "" "Fam6PatII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00000019" "00138" "00000019" "05330" "00000019" "05378" "00050575" "00198" "00054666" "00360" "00293758" "00198" "00361688" "00139" "00374490" "00198" "00374491" "00198" "00374492" "00198" "00385464" "04214" "00388691" "00244" "00434095" "00296" "00444977" "00296" "00444979" "00296" "00445004" "00296" "00445351" "00907" "00445351" "01897" "00445352" "00907" "00445352" "01897" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00198, 00244, 00296, 00360, 00907, 01897, 04214, 05330, 05378 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Seizures}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041345" "00360" "00054666" "01399" "Familial, autosomal recessive" "20y" "gross motor delay, walked with support at 4y, ataxia, congenital cataracts, cerebellar hypoplasia and atrophy; CPK mild elevation (215-309); histology non-specific" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000257093" "00139" "00361688" "00006" "Familial, autosomal recessive" "2y4m" "syndromic; global developmental delay, Joubert syndrome MRI findings" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269700" "00198" "00374490" "00006" "Familial, autosomal recessive" "" "Cataract, cerebellar ataxia and global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000269701" "00198" "00374491" "00006" "Familial, autosomal recessive" "" "Global developmental delay with features suggestive of cerebellar ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000269702" "00198" "00374492" "00006" "Familial, autosomal recessive" "" "Cerebellar ataxia and cataract" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000279259" "04214" "00385464" "00000" "Familial, autosomal recessive" "" "" "2y" "" "" "" "" "" "" "" "" "" "" "" "" "" "congenital cataracts; developmental delay; cerebellar atrophy" "" "0000282231" "00244" "00388691" "00006" "Familial, autosomal recessive" "24y" "proximal muscle weakness; CK level 10500 IU/L; Difficulty running, change in gait, wasting of calves, biceps lump; Most-affected muscles: Gastrocnemius, Iliopsoas, hip adductors, hamstrings and quadriceps; no cardiac involvement; 24y-ambulant" "19y" "" "" "" "" "IHC no DYSF" "" "" "" "" "" "" "" "" "" "" "0000334227" "00296" "00444977" "00006" "Familial, autosomal recessive" "" "pediatric cataract as part of Marinesco Sjogren syndrome; syndromic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334229" "00296" "00444979" "00006" "Familial, autosomal recessive" "" "pediatric cataract as part of Marinesco Sjogren syndrome; syndromic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334255" "00296" "00445004" "00006" "Familial, autosomal dominant" "" "congenital cataract; microphthalmia/ microcornea, glaucoma, corneal opacity" "" "" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000334581" "01897" "00445351" "00006" "Familial, autosomal recessive" "" "see paper; ..., failure to thrive in infancy" "" "" "" "" "" "" "" "" "" "" "" "" "" "CMRD" "chylomicron retention disease - Marinesco-Sjogren syndrome" "" "0000334582" "01897" "00445352" "00006" "Familial, autosomal recessive" "" "see paper; ..., failure to thrive in infancy" "" "" "" "" "" "" "" "" "" "" "" "" "" "CMRD" "chylomicron retention disease - Marinesco-Sjogren syndrome" "" "0000334603" "00907" "00445351" "00006" "Familial, autosomal recessive" "" "see paper; ..., cataracts, ataxia, delayed growth, mental retardation" "" "" "" "" "" "" "" "" "" "" "" "" "" "MSS" "chylomicron retention disease - Marinesco-Sjogren syndrome" "" "0000334604" "00907" "00445352" "00006" "Familial, autosomal recessive" "" "see paper; ..., cataracts, ataxia, delayed growth, mental retardation" "" "" "" "" "" "" "" "" "" "" "" "" "" "MSS" "chylomicron retention disease - Marinesco-Sjogren syndrome" "" ## 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}}" "0000000019" "00000019" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000054615" "00054666" "1" "01399" "01399" "2015-11-08 12:06:11" "" "" "SEQ" "DNA" "" "" "0000294926" "00293758" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000362916" "00361688" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000375684" "00374490" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375685" "00374491" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375686" "00374492" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000386693" "00385464" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "genome sequencing" "0000389933" "00388691" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000435562" "00434095" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000446546" "00444977" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446548" "00444979" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446573" "00445004" "1" "00006" "00006" "2023-12-29 15:44:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446921" "00445351" "1" "00006" "00006" "2024-01-10 10:10:39" "00006" "2024-01-10 12:19:03" "SEQ" "DNA" "" "" "0000446922" "00445352" "1" "00006" "00006" "2024-01-10 10:10:39" "00006" "2024-01-10 12:22:35" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{geneid}}" "0000000019" "AFF2" "0000000019" "ALG12" "0000000019" "ALG6" "0000000019" "B3GLCT" "0000000019" "B4GALT1" "0000000019" "BBS12" "0000000019" "CDK5RAP2" "0000000019" "CENPJ" "0000000019" "CRBN" "0000000019" "DHCR7" "0000000019" "EP300" "0000000019" "IL1RAPL1" "0000000019" "KDM5C" "0000000019" "KRAS" "0000000019" "MCPH1" "0000000019" "MED12" "0000000019" "NSD1" "0000000019" "NUFIP1" "0000000019" "POMT1" "0000000019" "RAB3GAP2" "0000000019" "RAF1" "0000000019" "SATB2" "0000000019" "SCN8A" "0000000019" "SIL1" "0000000019" "TSC1" "0000054615" "SIL1" "0000362916" "SIL1" "0000375684" "SIL1" "0000375685" "SIL1" "0000375686" "SIL1" "0000386693" "SIL1" "0000446921" "SAR1B" "0000446921" "SIL1" "0000446922" "SAR1B" "0000446922" "SIL1" ## 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 = 57 "{{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}}" "0000001054" "1" "50" "5" "138456994" "138456994" "subst" "0" "00002" "SIL1_000001" "g.138456994G>A" "" "{PMID:Almomani 2011:21102627} {dbSNP:11750382}" "" "" "" "Germline" "" "" "" "" "" "g.139121305G>A" "" "VUS" "" "0000001055" "1" "50" "5" "138357211" "138357211" "subst" "0" "00002" "SIL1_000002" "g.138357211A>G" "" "{PMID:Almomani 2011:21102627} {dbSNP:3749665}" "" "" "" "Germline" "" "" "" "" "" "g.139021522A>G" "" "VUS" "" "0000001056" "1" "50" "5" "138386859" "138386859" "subst" "0" "00002" "SIL1_000003" "g.138386859C>A" "" "{PMID:Almomani 2011:21102627} {dbSNP:3828600}" "" "" "" "Germline" "" "" "" "" "" "g.139051170C>A" "" "VUS" "" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000084565" "1" "90" "5" "138456790" "138456790" "subst" "0" "01399" "SIL1_000005" "g.138456790C>A" "" "{PMID:O\'Grady 2016:27159402}" "" "" "" "Germline" "yes" "" "0" "" "" "g.139121101C>A" "" "pathogenic" "" "0000084611" "2" "90" "5" "138386634" "138386634" "del" "0" "01399" "SIL1_000006" "g.138386634del" "" "{PMID:O\'Grady 2016:27159402}" "" "346delG" "" "Germline" "yes" "" "0" "" "" "g.139050945del" "" "pathogenic" "" "0000254351" "0" "30" "5" "138456779" "138456779" "subst" "0.000917714" "01943" "SIL1_000020" "g.138456779A>C" "" "" "" "SIL1(NM_001037633.1):c.189T>G (p.D63E, p.(Asp63Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139121090A>C" "" "likely benign" "" "0000298212" "0" "10" "5" "138456815" "138456815" "subst" "0.427647" "02325" "SIL1_000021" "g.138456815T>C" "" "" "" "SIL1(NM_001037633.1):c.153A>G (p.T51=), SIL1(NM_001037633.2):c.153A>G (p.T51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139121126T>C" "" "benign" "" "0000298213" "0" "30" "5" "138463463" "138463463" "subst" "0" "02325" "SIL1_000024" "g.138463463C>T" "" "" "" "SIL1(NM_001037633.2):c.70G>A (p.A24T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139127774C>T" "" "likely benign" "" "0000308137" "0" "10" "5" "138463538" "138463538" "subst" "0.0663481" "01943" "SIL1_000025" "g.138463538G>C" "" "" "" "SIL1(NM_001037633.1):c.-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139127849G>C" "" "benign" "" "0000308138" "0" "50" "5" "138283104" "138283104" "subst" "4.10088E-5" "01943" "SIL1_000009" "g.138283104T>G" "" "" "" "SIL1(NM_001037633.1):c.1088A>C (p.Q363P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138947415T>G" "" "VUS" "" "0000308139" "0" "90" "5" "138282880" "138282880" "subst" "0" "01943" "SIL1_000008" "g.138282880G>A" "" "" "" "SIL1(NM_001037633.1):c.1312C>T (p.Q438*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138947191G>A" "" "pathogenic" "" "0000308140" "0" "30" "5" "138282841" "138282841" "subst" "0.000508395" "01943" "SIL1_000007" "g.138282841C>T" "" "" "" "SIL1(NM_001037633.1):c.1351G>A (p.G451S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138947152C>T" "" "likely benign" "" "0000308141" "0" "10" "5" "138456816" "138456816" "subst" "0.000804283" "01943" "SIL1_000022" "g.138456816G>A" "" "" "" "SIL1(NM_001037633.1):c.152C>T (p.T51I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139121127G>A" "" "benign" "" "0000308142" "0" "10" "5" "138456815" "138456815" "subst" "0.427647" "01943" "SIL1_000021" "g.138456815T>C" "" "" "" "SIL1(NM_001037633.1):c.153A>G (p.T51=), SIL1(NM_001037633.2):c.153A>G (p.T51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139121126T>C" "" "benign" "" "0000308143" "0" "50" "5" "138456729" "138456729" "subst" "0.00202758" "01943" "SIL1_000019" "g.138456729T>C" "" "" "" "SIL1(NM_001037633.1):c.239A>G (p.Q80R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139121040T>C" "" "VUS" "" "0000308144" "0" "10" "5" "138386706" "138386706" "subst" "0.00502339" "01943" "SIL1_000018" "g.138386706G>A" "" "" "" "SIL1(NM_001037633.1):c.274C>T (p.R92W), SIL1(NM_022464.5):c.274C>T (p.R92W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139051017G>A" "" "benign" "" "0000308145" "0" "50" "5" "138386693" "138386693" "subst" "0" "01943" "SIL1_000017" "g.138386693T>C" "" "" "" "SIL1(NM_001037633.1):c.287A>G (p.Q96R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139051004T>C" "" "VUS" "" "0000308146" "0" "50" "5" "138356903" "138356903" "subst" "9.75126E-5" "01943" "SIL1_000016" "g.138356903C>T" "" "" "" "SIL1(NM_001037633.1):c.724G>A (p.V242M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139021214C>T" "" "VUS" "" "0000308147" "0" "30" "5" "138286989" "138286989" "subst" "0.000871685" "01943" "SIL1_000015" "g.138286989G>A" "" "" "" "SIL1(NM_001037633.1):c.900C>T (p.F300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138951300G>A" "" "likely benign" "" "0000308148" "0" "30" "5" "138286956" "138286956" "subst" "0.000368621" "01943" "SIL1_000014" "g.138286956C>T" "" "" "" "SIL1(NM_001037633.1):c.933G>A (p.G311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138951267C>T" "" "likely benign" "" "0000308149" "0" "50" "5" "138286901" "138286901" "subst" "1.27481E-5" "01943" "SIL1_000012" "g.138286901C>T" "" "" "" "SIL1(NM_001037633.1):c.988G>A (p.V330M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138951212C>T" "" "VUS" "" "0000308150" "0" "50" "5" "138286898" "138286898" "subst" "4.67643E-5" "01943" "SIL1_000011" "g.138286898G>A" "" "" "" "SIL1(NM_001037633.1):c.991C>T (p.R331C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138951209G>A" "" "VUS" "" "0000330540" "0" "50" "5" "138286942" "138286942" "dup" "0" "01804" "SIL1_000013" "g.138286942dup" "" "" "" "SIL1(NM_001037633.1):c.947_948insT (p.(Arg317GlufsTer35)), SIL1(NM_001037633.1):c.947dupT (p.R317Efs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138951253dup" "" "VUS" "" "0000330541" "0" "50" "5" "138456779" "138456779" "subst" "0.000917714" "01804" "SIL1_000020" "g.138456779A>C" "" "" "" "SIL1(NM_001037633.1):c.189T>G (p.D63E, p.(Asp63Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139121090A>C" "" "VUS" "" "0000337189" "0" "10" "5" "138463538" "138463538" "subst" "0.0663481" "02327" "SIL1_000025" "g.138463538G>C" "" "" "" "SIL1(NM_001037633.1):c.-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139127849G>C" "" "benign" "" "0000341014" "0" "10" "5" "138456815" "138456815" "subst" "0.427647" "02327" "SIL1_000021" "g.138456815T>C" "" "" "" "SIL1(NM_001037633.1):c.153A>G (p.T51=), SIL1(NM_001037633.2):c.153A>G (p.T51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139121126T>C" "" "benign" "" "0000349262" "0" "10" "5" "138378394" "138378394" "subst" "0.00547085" "02327" "SIL1_000026" "g.138378394G>A" "" "" "" "SIL1(NM_001037633.1):c.368C>T (p.(Thr123Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139042705G>A" "" "benign" "" "0000524336" "0" "30" "5" "138283072" "138283072" "subst" "0" "01943" "SIL1_000027" "g.138283072A>T" "" "" "" "SIL1(NM_001037633.1):c.1120T>A (p.W374R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138947383A>T" "" "likely benign" "" "0000524337" "0" "50" "5" "138286976" "138286976" "subst" "0.000117242" "01943" "SIL1_000028" "g.138286976G>A" "" "" "" "SIL1(NM_001037633.1):c.913C>T (p.R305W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138951287G>A" "" "VUS" "" "0000524345" "0" "10" "5" "138378368" "138378368" "subst" "0.00594585" "01943" "SIL1_000029" "g.138378368T>G" "" "" "" "SIL1(NM_001037633.1):c.394A>C (p.K132Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139042679T>G" "" "benign" "" "0000524346" "0" "30" "5" "138378394" "138378394" "subst" "0.00547085" "01804" "SIL1_000026" "g.138378394G>A" "" "" "" "SIL1(NM_001037633.1):c.368C>T (p.(Thr123Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139042705G>A" "" "likely benign" "" "0000524355" "0" "30" "5" "138456730" "138456730" "subst" "4.46955E-5" "01943" "SIL1_000030" "g.138456730G>T" "" "" "" "SIL1(NM_001037633.1):c.238C>A (p.Q80K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139121041G>T" "" "likely benign" "" "0000609512" "0" "30" "5" "138283098" "138283098" "subst" "8.19323E-6" "01943" "SIL1_000031" "g.138283098C>T" "" "" "" "SIL1(NM_001037633.1):c.1094G>A (p.R365H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138947409C>T" "" "likely benign" "" "0000609515" "0" "30" "5" "138356979" "138356979" "subst" "0" "01804" "SIL1_000032" "g.138356979C>T" "" "" "" "SIL1(NM_001037633.1):c.648G>A (p.(Met216Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139021290C>T" "" "likely benign" "" "0000651615" "1" "90" "5" "138362675" "138362675" "subst" "8.12922E-6" "03575" "SIL1_000033" "g.138362675G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs774441811}" "Germline" "" "rs774441811" "0" "" "" "g.139026986G>A" "" "pathogenic" "" "0000655295" "0" "90" "5" "138286942" "138286942" "dup" "0" "01943" "SIL1_000013" "g.138286942dup" "" "" "" "SIL1(NM_001037633.1):c.947_948insT (p.(Arg317GlufsTer35)), SIL1(NM_001037633.1):c.947dupT (p.R317Efs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138951253dup" "" "pathogenic" "" "0000720203" "0" "30" "5" "138283156" "138283156" "subst" "6.25417E-5" "02330" "SIL1_000010" "g.138283156C>T" "" "" "" "SIL1(NM_001037633.2):c.1036G>A (p.A346T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720204" "0" "30" "5" "138356928" "138356928" "subst" "0.000353515" "01943" "SIL1_000034" "g.138356928A>G" "" "" "" "SIL1(NM_001037633.1):c.699T>C (p.N233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763290" "3" "90" "5" "138283171" "138283171" "subst" "4.19027E-5" "00006" "SIL1_000035" "g.138283171C>T" "" "{PMID:Anazi 2017:27431290}" "" "NM_022464.4:c.1030-9G>A" "ACMG PVS1, PS4, PM2, PP1" "Germline" "" "" "0" "" "" "g.138947482C>T" "" "pathogenic" "ACMG" "0000787035" "3" "70" "5" "138356858" "138356858" "subst" "0" "00006" "SIL1_000038" "g.138356858A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.139021169A>T" "" "likely pathogenic" "" "0000787036" "3" "90" "5" "138283180" "138283180" "subst" "1.25656E-5" "00006" "SIL1_000037" "g.138283180C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.138947491C>T" "" "pathogenic" "" "0000787037" "3" "90" "5" "138282913" "138282932" "delins" "0" "00006" "SIL1_000036" "g.138282913_138282932delinsGTG" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.138947224_138947243delinsGTG" "" "pathogenic" "" "0000814373" "3" "90" "5" "0" "0" "" "0" "00000" "RAD50_000000" "g.?" "" "{PMID:Lenassi 2020:31848469}" "" "SIL1 exon 3 to 4 deletion hom" "homozygous" "Germline" "?" "" "0" "" "" "g.?" "" "pathogenic" "ACMG" "0000819270" "0" "10" "5" "138386706" "138386706" "subst" "0.00502339" "00006" "SIL1_000018" "g.138386706G>A" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000850795" "0" "90" "5" "138283171" "138283171" "subst" "4.19027E-5" "02327" "SIL1_000035" "g.138283171C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000921562" "1" "50" "5" "138283099" "138283099" "subst" "0.00011467" "00006" "SIL1_000039" "g.138283099G>A" "" "{PMID:Li 2016:27307692}" "" "" "" "Germline" "" "" "0" "" "" "g.138947410G>A" "" "VUS" "" "0000924252" "0" "10" "5" "138386706" "138386706" "subst" "0.00502339" "02326" "SIL1_000018" "g.138386706G>A" "" "" "" "SIL1(NM_001037633.1):c.274C>T (p.R92W), SIL1(NM_022464.5):c.274C>T (p.R92W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000954890" "3" "90" "5" "138283171" "138283171" "subst" "4.19027E-5" "00006" "SIL1_000035" "g.138283171C>T" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.138947482C>T" "" "pathogenic (recessive)" "" "0000954892" "3" "90" "5" "138283171" "138283171" "subst" "4.19027E-5" "00006" "SIL1_000035" "g.138283171C>T" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.138947482C>T" "" "pathogenic (recessive)" "" "0000954924" "1" "70" "5" "138386706" "138386706" "subst" "0.00502339" "00006" "SIL1_000018" "g.138386706G>A" "" "{PMID:Reis 2013:23508780}" "" "" "" "Germline" "no" "rs149242794" "0" "" "" "g.139051017G>A" "" "VUS" "" "0000955367" "3" "90" "5" "138386649" "138386649" "subst" "8.12123E-6" "00006" "SIL1_000040" "g.138386649G>A" "" "{PMID:Annesi 2007:17309654}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000955368" "3" "90" "5" "138386649" "138386649" "subst" "8.12123E-6" "00006" "SIL1_000040" "g.138386649G>A" "" "{PMID:Annesi 2007:17309654}" "" "" "" "Germline" "yes" "" "0" "" "" "g.139050960G>A" "" "pathogenic (recessive)" "" "0000976575" "0" "50" "5" "138356971" "138356971" "subst" "1.62621E-5" "01804" "SIL1_000041" "g.138356971G>A" "" "" "" "SIL1(NM_022464.5):c.656C>T (p.(Ala219Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976576" "0" "50" "5" "138378384" "138378384" "subst" "0" "01804" "SIL1_000042" "g.138378384G>T" "" "" "" "SIL1(NM_022464.5):c.378C>A (p.(Tyr126*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976577" "0" "50" "5" "138386718" "138386718" "subst" "0" "01804" "SIL1_000043" "g.138386718C>T" "" "" "" "SIL1(NM_022464.5):c.262G>A (p.(Gly88Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034918" "0" "50" "5" "138286942" "138286942" "subst" "0" "01804" "SIL1_000044" "g.138286942A>C" "" "" "" "SIL1(NM_022464.5):c.947T>G (p.(Leu316Arg))" "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 SIL1 ## Count = 57 "{{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}}" "0000001054" "00000169" "50" "106" "-132" "106" "-132" "c.106-132C>T" "r.(=)" "p.(=)" "" "0000001055" "00000169" "50" "646" "-230" "646" "-230" "c.646-230T>C" "r.(=)" "p.(=)" "" "0000001056" "00000169" "50" "245" "-124" "245" "-124" "c.245-124G>T" "r.(=)" "p.(=)" "" "0000079500" "00000169" "00" "-7183426" "0" "8388607" "0" "c.-7183426_*14454282dup" "" "" "" "0000084565" "00000169" "90" "178" "0" "178" "0" "c.178G>T" "r.(?)" "p.(Glu60*)" "4" "0000084611" "00000169" "90" "347" "0" "347" "0" "c.347del" "r.(?)" "p.(Gly116Alafs*42)" "5" "0000254351" "00000169" "30" "189" "0" "189" "0" "c.189T>G" "r.(?)" "p.(Asp63Glu)" "" "0000298212" "00000169" "10" "153" "0" "153" "0" "c.153A>G" "r.(?)" "p.(Thr51=)" "" "0000298213" "00000169" "30" "70" "0" "70" "0" "c.70G>A" "r.(?)" "p.(Ala24Thr)" "" "0000308137" "00000169" "10" "-6" "0" "-6" "0" "c.-6C>G" "r.(?)" "p.(=)" "" "0000308138" "00000169" "50" "1088" "0" "1088" "0" "c.1088A>C" "r.(?)" "p.(Gln363Pro)" "" "0000308139" "00000169" "90" "1312" "0" "1312" "0" "c.1312C>T" "r.(?)" "p.(Gln438Ter)" "" "0000308140" "00000169" "30" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.(Gly451Ser)" "" "0000308141" "00000169" "10" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Thr51Ile)" "" "0000308142" "00000169" "10" "153" "0" "153" "0" "c.153A>G" "r.(?)" "p.(Thr51=)" "" "0000308143" "00000169" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Gln80Arg)" "" "0000308144" "00000169" "10" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000308145" "00000169" "50" "287" "0" "287" "0" "c.287A>G" "r.(?)" "p.(Gln96Arg)" "" "0000308146" "00000169" "50" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Val242Met)" "" "0000308147" "00000169" "30" "900" "0" "900" "0" "c.900C>T" "r.(?)" "p.(Phe300=)" "" "0000308148" "00000169" "30" "933" "0" "933" "0" "c.933G>A" "r.(?)" "p.(Gly311=)" "" "0000308149" "00000169" "50" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Val330Met)" "" "0000308150" "00000169" "50" "991" "0" "991" "0" "c.991C>T" "r.(?)" "p.(Arg331Cys)" "" "0000330540" "00000169" "50" "947" "0" "947" "0" "c.947dup" "r.(?)" "p.(Arg317GlufsTer35)" "" "0000330541" "00000169" "50" "189" "0" "189" "0" "c.189T>G" "r.(?)" "p.(Asp63Glu)" "" "0000337189" "00000169" "10" "-6" "0" "-6" "0" "c.-6C>G" "r.(?)" "p.(=)" "" "0000341014" "00000169" "10" "153" "0" "153" "0" "c.153A>G" "r.(?)" "p.(Thr51=)" "" "0000349262" "00000169" "10" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Ile)" "" "0000524336" "00000169" "30" "1120" "0" "1120" "0" "c.1120T>A" "r.(?)" "p.(Trp374Arg)" "" "0000524337" "00000169" "50" "913" "0" "913" "0" "c.913C>T" "r.(?)" "p.(Arg305Trp)" "" "0000524345" "00000169" "10" "394" "0" "394" "0" "c.394A>C" "r.(?)" "p.(Lys132Gln)" "" "0000524346" "00000169" "30" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Ile)" "" "0000524355" "00000169" "30" "238" "0" "238" "0" "c.238C>A" "r.(?)" "p.(Gln80Lys)" "" "0000609512" "00000169" "30" "1094" "0" "1094" "0" "c.1094G>A" "r.(?)" "p.(Arg365His)" "" "0000609515" "00000169" "30" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(Met216Ile)" "" "0000651615" "00000169" "90" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Gln154*)" "" "0000655295" "00000169" "90" "947" "0" "947" "0" "c.947dup" "r.(?)" "p.(Arg317GlufsTer35)" "" "0000720203" "00000169" "30" "1036" "0" "1036" "0" "c.1036G>A" "r.(?)" "p.(Ala346Thr)" "" "0000720204" "00000169" "30" "699" "0" "699" "0" "c.699T>C" "r.(?)" "p.(Asn233=)" "" "0000763290" "00000169" "90" "1030" "-9" "1030" "-9" "c.1030-9G>A" "r.(=)" "p.(=)" "" "0000787035" "00000169" "70" "767" "2" "767" "2" "c.767+2T>A" "r.spl" "p.?" "7i" "0000787036" "00000169" "90" "1030" "-18" "1030" "-18" "c.1030-18G>A" "r.spl" "p.?" "9i" "0000787037" "00000169" "90" "1260" "0" "1279" "0" "c.1260_1279delinsCAC" "r.(?)" "p.(Arg420SerfsTer3)" "10" "0000814373" "00000169" "90" "-10" "1" "244" "1" "c.(-11+1_-10+1)_(244+1_245-1)del" "r.spl" "p.(?)" "" "0000819270" "00000169" "10" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000850795" "00000169" "90" "1030" "-9" "1030" "-9" "c.1030-9G>A" "r.(=)" "p.(=)" "" "0000921562" "00000169" "50" "1093" "0" "1093" "0" "c.1093C>T" "r.(?)" "p.(Arg365Cys)" "" "0000924252" "00000169" "10" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000954890" "00000169" "90" "1030" "-9" "1030" "-9" "c.1030-9G>A" "r.spl" "p.(Phe345Alafs*9)" "" "0000954892" "00000169" "90" "1030" "-9" "1030" "-9" "c.1030-9G>A" "r.spl" "p.(Phe345Alafs*9)" "" "0000954924" "00000169" "70" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000955367" "00000169" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111*)" "" "0000955368" "00000169" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111*)" "" "0000976575" "00000169" "50" "656" "0" "656" "0" "c.656C>T" "r.(?)" "p.(Ala219Val)" "" "0000976576" "00000169" "50" "378" "0" "378" "0" "c.378C>A" "r.(?)" "p.(Tyr126*)" "" "0000976577" "00000169" "50" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Gly88Arg)" "" "0001034918" "00000169" "50" "947" "0" "947" "0" "c.947T>G" "r.(?)" "p.(Leu316Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000000019" "0000001054" "0000000019" "0000001055" "0000000019" "0000001056" "0000050520" "0000079500" "0000054615" "0000084565" "0000054615" "0000084611" "0000294926" "0000651615" "0000362916" "0000763290" "0000375684" "0000787035" "0000375685" "0000787036" "0000375686" "0000787037" "0000386693" "0000814373" "0000389933" "0000819270" "0000435562" "0000921562" "0000446546" "0000954890" "0000446548" "0000954892" "0000446573" "0000954924" "0000446921" "0000955367" "0000446922" "0000955368"