### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VCAN) # 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}}" "VCAN" "versican" "5" "q12-q14" "unknown" "NG_012682.1" "UD_132119000592" "" "https://www.LOVD.nl/VCAN" "" "1" "2464" "1462" "118661" "1" "1" "1" "1" "Alias CSPG2.\r\nThis database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/VCAN_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-18 00:00:00" "00006" "2020-11-26 19:50:05" "00000" "2025-07-08 13:22:38" ## 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}}" "00022572" "VCAN" "transcript variant 1" "001" "NM_004385.4" "" "NP_004376.2" "" "" "" "-356" "12060" "10191" "82767493" "82878122" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01372" "WGVRP" "Wagner syndrome" "AD" "143200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02934" "DIAR4" "diarrhea, type 4, malabsorptive, congenital (DIAR-4)" "AR" "610370" "" "" "" "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" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05533" "MR;ID" "mental retardation (MR, intellectual disability (ID))" "" "" "" "" "" "00006" "2018-12-18 09:22:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "VCAN" "01372" ## Individuals ## Do not remove or alter this header ## ## Count = 42 "{{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}}" "00079999" "" "" "" "1" "" "01748" "" "" "" "no" "France" "" "0" "" "" "" "" "00080000" "" "" "" "1" "" "01748" "" "" "?" "" "" "" "0" "" "" "" "" "00081742" "" "" "" "13" "" "00006" "{PMID:Miyamoto 2005:16043844}, {DOI:Miyamoto 2005:10.1167/iovs.05-0057}" "4-generation family, 13 affecteds (6F, 7M)" "F;M" "yes" "Japan" "" "0" "" "" "" "" "00081743" "" "" "" "36" "" "00006" "{PMID:Kloeckener-Gruissem 2006:16636652}, Wagner 1938, Augenheilkd. 100:840-858" "5-generation family, 36 affecteds (17F, 19M)" "F;M" "" "Switzerland" "" "0" "" "" "" "" "00144158" "" "" "" "1" "" "01780" "{PMID:Katagiri 2014:25268133}" "index patient" "M" "no" "Japan" "" "0" "" "" "Japanese" "" "00245766" "" "" "" "1" "" "01836" "" "" "F" "" "" "" "0" "" "" "" "RED" "00276089" "" "" "" "1" "" "00006" "{PMID:Kastner 2015:26720455}" "5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Turkey" "" "0" "" "" "" "FamB" "00293918" "" "" "" "120" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293919" "" "" "" "36" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305043" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00335997" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00358946" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71134" "00358957" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71918" "00372677" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP236" "00372685" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP056" "00375410" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#001" "00375412" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#003" "00375425" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#019" "00375427" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#021" "00375432" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#027" "00381019" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23462753}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00381021" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23462753}" "" "" "" "China" "" "0" "" "" "Chinese" "" "00389407" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 250, unclassified / mixed, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "691" "00414353" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP20" "00417399" "" "" "" "19" "" "00006" "{PMID:Mukhopadhyay 2006:16877430}" "5-generation family, 19 affected (7F, 12M)" "F;M" "no" "Netherlands" "" "0" "" "" "" "FamW95-023" "00417400" "" "" "" "35" "" "00006" "{PMID:Mukhopadhyay 2006:16877430}" "5-generation family, 35 affected (17F, 11M)" "F;M" "no" "Netherlands" "" "0" "" "" "" "FamW95-131" "00417401" "" "" "" "9" "" "00006" "{PMID:Mukhopadhyay 2006:16877430}" "3-generation family, 9 affected (3F, 4M)" "F;M" "no" "Netherlands" "" "0" "" "" "" "FamW95-038" "00417402" "" "" "" "17" "" "00006" "{PMID:Mukhopadhyay 2006:16877430}" "5-generation family, 17 affected (6F, 11M)" "F;M" "no" "Netherlands" "" "0" "" "" "" "FamW04-153" "00417403" "" "" "" "10" "" "00006" "{PMID:Mukhopadhyay 2006:16877430}" "4-generation family, 10 affected (6F, 4M)" "F;M" "no" "Netherlands" "" "0" "" "" "" "FamW95-124" "00417404" "" "" "" "13" "" "00006" "{PMID:Mukhopadhyay 2006:16877430}" "4-generation family, 13 affected (4F, 7M)" "F;M" "no" "Netherlands" "" "0" "" "" "" "FamW05-088" "00417405" "" "" "" "13" "" "00006" "{PMID:Mukhopadhyay 2006:16877430}" "3-generation family, 2 affected (2M), father/son" "M" "no" "Netherlands" "" "0" "" "" "" "FamW95-137" "00417406" "" "" "" "13" "" "00006" "{PMID:Brezin 2011:21738396}" "5-generation family, 13 affected (7F, 6M)" "F;M" "" "France" "" "0" "" "" "" "family" "00417407" "" "" "" "21" "" "00006" "{PMID:Kloeckener-Gruissem 2013:22739342}" "4-generation family 21 affected (10F, 11M)" "F;M" "" "France" "" "0" "" "" "" "FamFL" "00417408" "" "" "" "14" "" "00006" "{PMID:Kloeckener-Gruissem 2013:22739342}" "5-generation family, 14 affected (11F, 3M)" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamBC" "00424062" "" "" "" "1" "" "00000" "{PMID:Ronan 2009:19901218}" "3-generation family, proband\'s maternal grandfather" "M" "" "" "" "0" "" "" "white" "1" "00424063" "" "" "" "1" "" "00000" "{PMID:Ronan 2009:19901218}" "3-generation family, proband\'s mother" "F" "" "" "" "0" "" "" "white" "4" "00424064" "" "" "" "1" "" "00000" "{PMID:Ronan 2009:19901218}" "3-generation family, proband\'s mother\'s sister" "F" "" "" "" "0" "" "" "white" "6" "00424065" "" "" "" "1" "" "00000" "{PMID:Ronan 2009:19901218}" "3-generation family, proband" "M" "" "" "" "0" "" "" "white" "8" "00424066" "" "" "" "1" "" "00000" "{PMID:Ronan 2009:19901218}" "3-generation family, proband\'s mother\'s sister\'s son" "M" "" "" "" "0" "" "" "white" "10" "00424067" "" "" "" "1" "" "00000" "{PMID:Ronan 2009:19901218}" "3-generation family, proband\'s mother\'s sister\'s daughter" "F" "" "" "" "0" "" "" "white" "11" "00451661" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Parents with inbreeding and consanguinity (not molecularly tested). Co-occurrence of two different monogenic diseases" "F" "yes" "Mexico" "" "" "" "" "Mexican" "3bINP-047" "00454553" "" "" "" "1" "" "00006" "{PMID:Xie 2024:39198981}" "patient" "M" "" "China" "" "0" "" "not treated" "" "Pat309" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 42 "{{individualid}}" "{{diseaseid}}" "00079999" "01372" "00080000" "01372" "00081742" "01372" "00081743" "01372" "00144158" "04214" "00245766" "05533" "00276089" "04214" "00293918" "00198" "00293919" "00198" "00305043" "00198" "00335997" "04214" "00358946" "04214" "00358957" "04214" "00372677" "04214" "00372685" "04214" "00375410" "04214" "00375412" "04214" "00375425" "04214" "00375427" "04214" "00375432" "04214" "00381019" "04214" "00381021" "04214" "00389407" "04214" "00414353" "00198" "00417399" "01372" "00417400" "01372" "00417401" "01372" "00417402" "01372" "00417403" "01372" "00417404" "01372" "00417405" "01372" "00417406" "01372" "00417407" "01372" "00417408" "01372" "00424062" "01372" "00424063" "01372" "00424064" "01372" "00424065" "01372" "00424066" "01372" "00424067" "01372" "00451661" "02934" "00454553" "05121" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01372, 02934, 04214, 05121, 05533 ## Count = 38 "{{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}}" "0000061381" "01372" "00079999" "01748" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061382" "01372" "00080000" "01748" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061383" "01372" "00081742" "00006" "Familial, autosomal dominant" "" "see paper; ..., ocular phenotypes includes\r\nempty vitreous with fibrillary condensations, avascular membrane,\r\nperivascular sheathing, progressive chorioretinal dystrophy (similar to Wagner\r\nsyndrome)" "" "" "" "" "" "" "" "" "" "" "" "0000061384" "01372" "00081743" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000116936" "04214" "00144158" "01780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000210684" "04214" "00276089" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253912" "04214" "00335997" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000254244" "04214" "00358946" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000254255" "04214" "00358957" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267956" "04214" "00372677" "00000" "Familial, autosomal recessive" "3y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267964" "04214" "00372685" "00000" "Isolated (sporadic)" "34y" "see paper; ..." "6y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270624" "04214" "00375410" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270626" "04214" "00375412" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270639" "04214" "00375425" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270641" "04214" "00375427" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270646" "04214" "00375432" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000274870" "04214" "00381019" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (RP)" "" "0000274872" "04214" "00381021" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Wagner syndrome (WS)" "" "0000282948" "04214" "00389407" "00000" "Familial, autosomal dominant" "62y" "age at genetic diagnosis mentioned" "" "58y" "" "" "" "" "" "" "unclassified / mixed" "" "" "0000306188" "00198" "00414353" "00000" "Familial, autosomal dominant" "49y" "" "" "" "" "" "" "" "" "" "VCAN-Related Vitreoretinopathy" "" "" "0000308886" "01372" "00417399" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "WGVRP" "Wagner disease" "" "0000308887" "01372" "00417400" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "WGVRP" "Wagner disease" "" "0000308888" "01372" "00417401" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "WGVRP" "Wagner disease" "" "0000308889" "01372" "00417402" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "WGVRP" "Wagner disease" "" "0000308890" "01372" "00417403" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "WGVRP" "Wagner disease" "" "0000308891" "01372" "00417404" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "WGVRP" "Wagner disease" "" "0000308892" "01372" "00417405" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "WGVRP" "Wagner disease" "" "0000308893" "01372" "00417406" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "WGVRP" "Wagner disease" "" "0000308894" "01372" "00417407" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "WGVRP" "Wagner disease" "" "0000308895" "01372" "00417408" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "WGVRP" "Wagner disease" "" "0000315270" "01372" "00424062" "00000" "Familial, autosomal dominant" "60y" "ophtalmological examinations right, left eye (no view of fundus because of opacity of anterior ocular media): best corrected visual acuity: hand movement, 20/25; recent refraction spherical equivalent: -0.875, 0.25; past (presurgical) refraction spherical equivalent: not available, not available; axial length, mm: not available, 23.44; lens status: anterior chamber intraocular lens pupillary membrane, anterior chamber intraocular lens; retinal detachment age, y:not available; surgery: cataract extraction/intraocular lens tube shunt, cataract extraction/intraocular lens; optically empty vitreous: not available, yes; vitreal avascular membranes: not available, yes; retinal traction: not available, none; chorioretinal atrophy: not available, mild; retinal pigmentary changes: not available, mild; ocular alignment: orthophoria, orthophoria; visual field: not available, paracentral scotoma" "" "" "" "" "" "" "" "" "vitreoretinopathy, Wagner (WGVRP, Wagner syndrome)" "" "" "0000315271" "01372" "00424063" "00000" "Familial, autosomal dominant" "37y" "ophtalmological examinations right, left eye: best corrected visual acuity: 20/20, 20/25; recent refraction spherical equivalent: -2, -0.25; past (presurgical) refraction spherical equivalent: not available, not available; axial length, mm: 24.69, 24.46; lens status: posterior chamber intraocular lens, posterior chamber intraocular lens; retinal detachment age, y:not available; surgery: cataract extraction/intraocular lens, cataract extraction/intraocular lens; optically empty vitreous: yes, yes; vitreal avascular membranes: yes, yes; retinal traction: moderate, moderate; chorioretinal atrophy: moderate, moderate; retinal pigmentary changes: moderate, moderate; ocular alignment: exotropia, exotropia; visual field: ring scotoma, ring scotoma" "" "" "" "" "" "" "" "" "vitreoretinopathy, Wagner (WGVRP, Wagner syndrome)" "" "" "0000315272" "01372" "00424064" "00000" "Familial, autosomal dominant" "40y" "ophtalmological examinations right, left eye (no view of fundus because of opacity of anterior ocular media): best corrected visual acuity: no light perception, 20/400; recent refraction spherical equivalent: not available, Plano; past (presurgical) refraction spherical equivalent: not available, not available; axial length, mm: not available, 22.38; lens status: Dense nuclear sclerotic cataract, posterior chamber intraocular lens; retinal detachment age, y:5; surgery: scleral buckle/pars plana vitrectomy, none; optically empty vitreous: not available, yes; vitreal avascular membranes: not available, yes; retinal traction: not available, mild; chorioretinal atrophy: not available, severe; retinal pigmentary changes: not available, severe; ocular alignment: exotropia, exotropia; visual field: not available, severe constriction" "" "" "" "" "" "" "" "" "vitreoretinopathy, Wagner (WGVRP, Wagner syndrome)" "" "" "0000315273" "01372" "00424065" "00000" "Familial, autosomal dominant" "16y" "ophtalmological examinations right, left eye: best corrected visual acuity: 20/20, 20/32; recent refraction spherical equivalent: not available, -1; past (presurgical) refraction spherical equivalent: (age 14 y) -1.00 + 1.00 x 90, (age 14 y) -1.00 + 2.00 x 90; axial length, mm: 24.56, 25.07; lens status: Clear, Clear; retinal detachment age, y:not available; surgery: none, scleral buckle/pars plana vitrectomy; optically empty vitreous: yes, yes; vitreal avascular membranes: yes, yes; retinal traction: severe, severe; chorioretinal atrophy: none, none; retinal pigmentary changes: none, none; ocular alignment: orthophoria, orthophoria; visual field: enlarged blind spot, paracentral scotoma" "" "" "" "" "" "" "" "" "vitreoretinopathy, Wagner (WGVRP, Wagner syndrome)" "" "" "0000315274" "01372" "00424066" "00000" "Familial, autosomal dominant" "16y" "ophtalmological examinations right, left eye (no view of fundus because of opacity of anterior ocular media): best corrected visual acuity: no light perception, 20/160; recent refraction spherical equivalent: not available, -0.25; past (presurgical) refraction spherical equivalent: (age 4 y) +2.50 sph, (age 4 y) +2.50 sph; axial length, mm: not available, 22.18; lens status: Dense nuclear sclerotic cataract, Clear; retinal detachment age, y:9; surgery: scleral buckle/pars plana vitrectomy, none; optically empty vitreous: not available, yes; vitreal avascular membranes: not available, yes; retinal traction: not available, moderate; chorioretinal atrophy: not available, severe; retinal pigmentary changes: not available, severe; ocular alignment: orthophoria, orthophoria; visual field: not available, moderate constriction" "" "" "" "" "" "" "" "" "vitreoretinopathy, Wagner (WGVRP, Wagner syndrome)" "" "" "0000315275" "01372" "00424067" "00000" "Familial, autosomal dominant" "11y" "ophtalmological examinations right, left eye: best corrected visual acuity: 20/200, 20/50; recent refraction spherical equivalent: -3.25, 0.75; past (presurgical) refraction spherical equivalent: (age 2.5 y) 1.25 + 3.00 x 90, (age 2.5 y) -1.50+ 4.25 x 95; axial length, mm: 23.62, 22.85; lens status: posterior subcapsular cataract, Clear; retinal detachment age, y:8; surgery: scleral buckle/pars plana vitrectomy, none; optically empty vitreous: not availabled, yes; vitreal avascular membranes: not availabled, yes; retinal traction: none, none; chorioretinal atrophy: moderate, moderate; retinal pigmentary changes: none, none; ocular alignment: exotropia, exotropia; visual field: nasal scotoma, superior scotoma" "" "" "" "" "" "" "" "" "vitreoretinopathy, Wagner (WGVRP, Wagner syndrome)" "" "" "0000340322" "02934" "00451661" "04221" "Familial, autosomal recessive" "" "Growth delay, Type 1 diabetes. Cataract, Intellectual disability, Hepatomegaly. Co-ocurrence with Wagner syndrome 1 (OMIM: 143200)" "" "08y" "" "" "" "" "" "" "Diarrhea 4, malabsorptive, congenital" "Diabetes, metabolopathy" "" "0000343208" "05121" "00454553" "00006" "Unknown" "" "Hepatic dysfunction, Wagner syndrome?; no Gowers\' sign; hypertrophy gastrocnemius; limb muscle force 5; 10m walk 7.64 sec; elevated serum CK level (10551 U/L); no family history" "3y6m" "" "" "" "" "" "" "" "" "IMD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 42 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080077" "00079999" "1" "01748" "01748" "2016-08-31 16:55:32" "" "" "SEQ-NG-IT" "DNA" "Blood" "" "0000080078" "00080000" "1" "01748" "01748" "2016-08-31 17:11:53" "" "" "SEQ-NG-IT" "DNA" "Blood" "" "0000081872" "00081742" "1" "00006" "00006" "2016-10-21 19:35:53" "00006" "2016-10-21 19:44:19" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000081873" "00081743" "1" "00006" "00006" "2016-10-21 20:03:16" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000145017" "00144158" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000246878" "00245766" "1" "01836" "01836" "2019-07-08 11:51:02" "" "" "SEQ-NG" "DNA" "" "" "0000277233" "00276089" "1" "00006" "00006" "2020-01-26 21:40:52" "" "" "SEQ" "DNA" "" "" "0000295086" "00293918" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295087" "00293919" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306172" "00305043" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000337227" "00335997" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360183" "00358946" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360194" "00358957" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000373909" "00372677" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373917" "00372685" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000376607" "00375410" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376609" "00375412" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376622" "00375425" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376624" "00375427" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376629" "00375432" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000382233" "00381019" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "arraySEQ;SEQ;PCR" "DNA" "blood" "" "0000382235" "00381021" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "arraySEQ;SEQ;PCR" "DNA" "blood" "" "0000390650" "00389407" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000415633" "00414353" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000418691" "00417399" "1" "00006" "00006" "2022-09-15 21:40:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000418692" "00417400" "1" "00006" "00006" "2022-09-15 22:04:42" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000418693" "00417401" "1" "00006" "00006" "2022-09-15 22:06:23" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000418694" "00417402" "1" "00006" "00006" "2022-09-15 22:07:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000418695" "00417403" "1" "00006" "00006" "2022-09-15 22:09:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000418696" "00417404" "1" "00006" "00006" "2022-09-15 22:11:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000418697" "00417405" "1" "00006" "00006" "2022-09-15 22:12:33" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000418698" "00417406" "1" "00006" "00006" "2022-09-15 22:21:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000418699" "00417407" "1" "00006" "00006" "2022-09-15 22:32:25" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000418700" "00417408" "1" "00006" "00006" "2022-09-15 22:39:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000425373" "00424062" "1" "00000" "03840" "2022-11-16 15:54:07" "" "" "SEQ" "DNA" "blood" "" "0000425374" "00424063" "1" "00000" "03840" "2022-11-16 15:54:07" "" "" "SEQ" "DNA" "blood" "" "0000425375" "00424064" "1" "00000" "03840" "2022-11-16 15:54:07" "" "" "SEQ" "DNA" "blood" "" "0000425376" "00424065" "1" "00000" "03840" "2022-11-16 15:54:07" "" "" "SEQ" "DNA" "blood" "" "0000425377" "00424066" "1" "00000" "03840" "2022-11-16 15:54:07" "" "" "SEQ" "DNA" "blood" "" "0000425378" "00424067" "1" "00000" "03840" "2022-11-16 15:54:07" "" "" "SEQ" "DNA" "blood" "" "0000453265" "00451661" "1" "04221" "04221" "2024-06-24 04:26:14" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000456166" "00454553" "1" "00006" "00006" "2024-09-13 17:19:08" "" "" "MLPA;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{geneid}}" "0000080077" "VCAN" "0000080078" "VCAN" "0000081872" "VCAN" "0000081873" "VCAN" "0000145017" "EYS" "0000277233" "VCAN" "0000337227" "VCAN" "0000382233" "VCAN" "0000382235" "VCAN" "0000390650" "VCAN" "0000415633" "VCAN" "0000418691" "VCAN" "0000418692" "VCAN" "0000418693" "VCAN" "0000418694" "VCAN" "0000418695" "VCAN" "0000418696" "VCAN" "0000418697" "VCAN" "0000418698" "VCAN" "0000418699" "VCAN" "0000418700" "VCAN" "0000425373" "VCAN" "0000425374" "VCAN" "0000425375" "VCAN" "0000425376" "VCAN" "0000425377" "VCAN" "0000425378" "VCAN" "0000453265" "NEUROG3" ## 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 = 248 "{{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}}" "0000128954" "21" "90" "5" "82830241" "82840747" "del" "0" "01748" "VCAN_000002" "g.82830241_82840747del" "" "" "" "g.67712_78218del" "" "Germline" "yes" "" "0" "" "" "g.83534422_83544928del" "" "pathogenic" "" "0000128955" "21" "90" "5" "82835347" "82838730" "delins" "0" "01748" "VCAN_000001" "g.82835347_82838730delinsAC" "" "" "" "g.72818_76201delinsAC" "" "Germline" "" "" "0" "" "" "g.83539528_83542911delinsAC" "" "pathogenic" "" "0000132574" "1" "90" "5" "82832824" "82832824" "subst" "0" "00006" "VCAN_000003" "g.82832824A>G" "" "{PMID:Miyamoto 2005:16043844}, {DOI:Miyamoto 2005:10.1167/iovs.05-0057}, {OMIM118661:0001}" "" "c.4004-2A>G" "not in 500 control chromosomes; mapped by linkage analysis" "Germline" "yes" "rs80356555" "0" "" "" "g.83537005A>G" "" "pathogenic" "" "0000132575" "1" "90" "5" "82838088" "82838088" "subst" "0" "00006" "VCAN_000004" "g.82838088G>A" "" "{PMID:Kloeckener-Gruissem 2006:16636652}, {OMIM118661:0002}, {PMID:Kloeckener-Gruissem 2006:22739342}" "" "" "not in 104 normal chromosomes; mapped by linkgae analysis; 700-fold and 150-fold increase in VCAN isoforms V2 and V3" "Germline" "yes" "" "0" "" "" "g.83542269G>A" "" "pathogenic" "" "0000132576" "3" "30" "5" "82767201" "82767201" "subst" "0" "00006" "VCAN_000005" "g.82767201A>G" "" "{PMID:Kloeckener-Gruissem 2006:16636652}" "" "" "" "Germline" "" "" "0" "" "" "g.83471382A>G" "" "likely benign" "" "0000246337" "0" "10" "5" "82816153" "82816153" "subst" "0.00041725" "02330" "VCAN_000073" "g.82816153A>G" "" "" "" "VCAN(NM_004385.4):c.2028A>G (p.L676=), VCAN(NM_004385.5):c.2028A>G (p.L676=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83520334A>G" "" "benign" "" "0000246347" "0" "10" "5" "82815368" "82815368" "subst" "0.000414594" "02330" "VCAN_000011" "g.82815368A>G" "" "" "" "VCAN(NM_004385.4):c.1243A>G (p.I415V), VCAN(NM_004385.5):c.1243A>G (p.I415V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83519549A>G" "" "benign" "" "0000246370" "0" "10" "5" "82785899" "82785899" "subst" "0.00204039" "02330" "VCAN_000063" "g.82785899A>G" "" "" "" "VCAN(NM_004385.5):c.71-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83490080A>G" "" "benign" "" "0000250097" "0" "10" "5" "82789647" "82789647" "subst" "0.323021" "02329" "VCAN_000067" "g.82789647A>G" "" "" "" "VCAN(NM_004385.5):c.645A>G (p.V215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83493828A>G" "" "benign" "" "0000250098" "0" "10" "5" "82833391" "82833391" "subst" "0.0770577" "02329" "VCAN_000024" "g.82833391A>G" "" "" "" "VCAN(NM_004385.5):c.4569A>G (p.T1523=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83537572A>G" "" "benign" "" "0000250099" "0" "10" "5" "82835545" "82835545" "subst" "0.48465" "02329" "VCAN_000034" "g.82835545A>G" "" "" "" "VCAN(NM_004385.5):c.6723A>G (p.R2241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83539726A>G" "" "benign" "" "0000250149" "0" "10" "5" "82833369" "82833369" "subst" "0.484976" "02329" "VCAN_000023" "g.82833369A>G" "" "" "" "VCAN(NM_004385.5):c.4547A>G (p.K1516R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83537550A>G" "" "benign" "" "0000250153" "0" "10" "5" "82815170" "82815170" "subst" "0.030777" "02329" "VCAN_000010" "g.82815170A>G" "" "" "" "VCAN(NM_004385.5):c.1045A>G (p.K349E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83519351A>G" "" "benign" "" "0000254362" "0" "30" "5" "82833426" "82833426" "subst" "0.00283645" "01943" "VCAN_000025" "g.82833426A>G" "" "" "" "VCAN(NM_004385.4):c.4604A>G (p.E1535G), VCAN(NM_004385.5):c.4604A>G (p.E1535G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83537607A>G" "" "likely benign" "" "0000254476" "0" "30" "5" "82817201" "82817201" "subst" "0.000158911" "01943" "VCAN_000019" "g.82817201A>G" "" "" "" "VCAN(NM_004385.4):c.3076A>G (p.I1026V), VCAN(NM_004385.5):c.3076A>G (p.I1026V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83521382A>G" "" "likely benign" "" "0000255070" "0" "30" "5" "82837270" "82837270" "subst" "0.000105976" "01943" "VCAN_000077" "g.82837270A>T" "" "" "" "VCAN(NM_004385.4):c.8448A>T (p.T2816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83541451A>T" "" "likely benign" "" "0000255125" "0" "30" "5" "82835767" "82835767" "subst" "4.07395E-5" "01943" "VCAN_000039" "g.82835767A>G" "" "" "" "VCAN(NM_004385.4):c.6945A>G (p.V2315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83539948A>G" "" "likely benign" "" "0000256192" "0" "50" "5" "82816250" "82816250" "subst" "8.18478E-5" "01943" "VCAN_000017" "g.82816250A>G" "" "" "" "VCAN(NM_004385.4):c.2125A>G (p.K709E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83520431A>G" "" "VUS" "" "0000256403" "0" "50" "5" "82786016" "82786016" "subst" "0" "01943" "VCAN_000006" "g.82786016A>C" "" "" "" "VCAN(NM_004385.4):c.170A>C (p.N57T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83490197A>C" "" "VUS" "" "0000311225" "0" "10" "5" "82815525" "82815525" "subst" "0.000414813" "02330" "VCAN_000014" "g.82815525C>T" "" "" "" "VCAN(NM_004385.4):c.1400C>T (p.S467F), VCAN(NM_004385.5):c.1400C>T (p.S467F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83519706C>T" "" "benign" "" "0000311226" "0" "10" "5" "82815646" "82815646" "subst" "4.0663E-6" "02330" "VCAN_000015" "g.82815646C>T" "" "" "" "VCAN(NM_004385.5):c.1521C>T (p.H507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83519827C>T" "" "benign" "" "0000311227" "0" "50" "5" "82816056" "82816056" "subst" "0.000371062" "02330" "VCAN_000072" "g.82816056C>T" "" "" "" "VCAN(NM_004385.4):c.1931C>T (p.P644L), VCAN(NM_004385.5):c.1931C>T (p.P644L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83520237C>T" "" "VUS" "" "0000311228" "0" "30" "5" "82816284" "82816284" "subst" "0.00203255" "02330" "VCAN_000074" "g.82816284T>C" "" "" "" "VCAN(NM_004385.5):c.2159T>C (p.V720A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83520465T>C" "" "likely benign" "" "0000311229" "0" "30" "5" "82816305" "82816305" "subst" "2.03782E-5" "02330" "VCAN_000018" "g.82816305C>G" "" "" "" "VCAN(NM_004385.5):c.2180C>G (p.S727C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83520486C>G" "" "likely benign" "" "0000311230" "0" "10" "5" "82816791" "82816791" "subst" "0.000415472" "02330" "VCAN_000075" "g.82816791C>T" "" "" "" "VCAN(NM_004385.4):c.2666C>T (p.T889I), VCAN(NM_004385.5):c.2666C>T (p.T889I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83520972C>T" "" "benign" "" "0000311231" "0" "10" "5" "82818144" "82818144" "subst" "0.00125637" "02330" "VCAN_000021" "g.82818144C>G" "" "" "" "VCAN(NM_004385.5):c.4003+16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83522325C>G" "" "benign" "" "0000311232" "0" "10" "5" "82834009" "82834009" "subst" "0.00210531" "02330" "VCAN_000027" "g.82834009G>A" "" "" "" "VCAN(NM_004385.4):c.5187G>A (p.E1729=), VCAN(NM_004385.5):c.5187G>A (p.E1729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83538190G>A" "" "benign" "" "0000311233" "0" "10" "5" "82834247" "82834247" "subst" "0" "02330" "VCAN_000028" "g.82834247C>T" "" "" "" "VCAN(NM_004385.5):c.5425C>T (p.H1809Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83538428C>T" "" "benign" "" "0000311234" "0" "50" "5" "82834807" "82834807" "subst" "3.66751E-5" "02330" "VCAN_000032" "g.82834807C>A" "" "" "" "VCAN(NM_004385.5):c.5985C>A (p.S1995R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83538988C>A" "" "VUS" "" "0000311235" "0" "50" "5" "82835621" "82835621" "subst" "0" "02330" "VCAN_000036" "g.82835621C>T" "" "" "" "VCAN(NM_004385.5):c.6799C>T (p.P2267S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83539802C>T" "" "VUS" "" "0000311236" "0" "10" "5" "82835860" "82835860" "subst" "0" "02330" "VCAN_000040" "g.82835860G>T" "" "" "" "VCAN(NM_004385.5):c.7038G>T (p.V2346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83540041G>T" "" "benign" "" "0000311237" "0" "10" "5" "82836241" "82836241" "subst" "0.00801876" "02330" "VCAN_000043" "g.82836241C>T" "" "" "" "VCAN(NM_004385.4):c.7419C>T (p.S2473=), VCAN(NM_004385.5):c.7419C>T (p.S2473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83540422C>T" "" "benign" "" "0000311238" "0" "10" "5" "82836373" "82836373" "subst" "0.00157439" "02330" "VCAN_000044" "g.82836373C>T" "" "" "" "VCAN(NM_004385.4):c.7551C>T (p.D2517=), VCAN(NM_004385.5):c.7551C>T (p.D2517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83540554C>T" "" "benign" "" "0000311239" "0" "50" "5" "82836706" "82836706" "subst" "6.51567E-5" "02330" "VCAN_000045" "g.82836706C>A" "" "" "" "VCAN(NM_004385.5):c.7884C>A (p.N2628K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83540887C>A" "" "VUS" "" "0000311240" "0" "30" "5" "82836776" "82836776" "subst" "0" "02330" "VCAN_000046" "g.82836776G>C" "" "" "" "VCAN(NM_004385.5):c.7954G>C (p.D2652H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83540957G>C" "" "likely benign" "" "0000311241" "0" "50" "5" "82837094" "82837094" "subst" "1.63147E-5" "02330" "VCAN_000047" "g.82837094G>C" "" "" "" "VCAN(NM_004385.5):c.8272G>C (p.G2758R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83541275G>C" "" "VUS" "" "0000311242" "0" "30" "5" "82837443" "82837443" "subst" "0.000155292" "02330" "VCAN_000050" "g.82837443C>T" "" "" "" "VCAN(NM_004385.4):c.8621C>T (p.A2874V), VCAN(NM_004385.5):c.8621C>T (p.A2874V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83541624C>T" "" "likely benign" "" "0000311243" "0" "30" "5" "82837586" "82837586" "subst" "8.95401E-5" "02330" "VCAN_000051" "g.82837586G>A" "" "" "" "VCAN(NM_004385.5):c.8764G>A (p.A2922T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83541767G>A" "" "likely benign" "" "0000311244" "0" "50" "5" "82849249" "82849249" "subst" "0.000219684" "02330" "VCAN_000058" "g.82849249G>A" "" "" "" "VCAN(NM_004385.5):c.9560G>A (p.R3187Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83553430G>A" "" "VUS" "" "0000312963" "0" "10" "5" "82815408" "82815408" "subst" "0.14849" "02325" "VCAN_000070" "g.82815408G>A" "" "" "" "VCAN(NM_004385.5):c.1283G>A (p.G428D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83519589G>A" "" "benign" "" "0000312964" "0" "10" "5" "82875800" "82875800" "subst" "0.97547" "02325" "VCAN_000059" "g.82875800C>T" "" "" "" "VCAN(NM_004385.5):c.9882C>T (p.V3294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83579981C>T" "" "benign" "" "0000313614" "0" "10" "5" "82815408" "82815408" "subst" "0.14849" "02329" "VCAN_000070" "g.82815408G>A" "" "" "" "VCAN(NM_004385.5):c.1283G>A (p.G428D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83519589G>A" "" "benign" "" "0000313615" "0" "10" "5" "82786194" "82786194" "subst" "0.351083" "02329" "VCAN_000007" "g.82786194T>C" "" "" "" "VCAN(NM_004385.5):c.348T>C (p.T116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83490375T>C" "" "benign" "" "0000313616" "0" "10" "5" "82786239" "82786239" "subst" "0.0287577" "02329" "VCAN_000065" "g.82786239C>T" "" "" "" "VCAN(NM_004385.5):c.393C>T (p.D131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83490420C>T" "" "benign" "" "0000313617" "0" "10" "5" "82833145" "82833145" "subst" "0.642178" "02329" "VCAN_000022" "g.82833145G>A" "" "" "" "VCAN(NM_004385.5):c.4323G>A (p.Q1441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83537326G>A" "" "benign" "" "0000313618" "0" "30" "5" "82789387" "82789387" "subst" "2.03188E-5" "02329" "VCAN_000008" "g.82789387G>A" "" "" "" "VCAN(NM_004385.5):c.468G>A (p.A156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83493568G>A" "" "likely benign" "" "0000313619" "0" "10" "5" "82834299" "82834299" "subst" "0.383581" "02329" "VCAN_000029" "g.82834299G>A" "" "" "" "VCAN(NM_004385.5):c.5477G>A (p.R1826H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83538480G>A" "" "benign" "" "0000313620" "0" "10" "5" "82834630" "82834630" "subst" "0.484854" "02329" "VCAN_000031" "g.82834630T>C" "" "" "" "VCAN(NM_004385.5):c.5808T>C (p.G1936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83538811T>C" "" "benign" "" "0000313621" "0" "10" "5" "82835724" "82835724" "subst" "0.482542" "02329" "VCAN_000037" "g.82835724T>A" "" "" "" "VCAN(NM_004385.5):c.6902T>A (p.F2301Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83539905T>A" "" "benign" "" "0000313622" "0" "10" "5" "82836241" "82836241" "subst" "0.00801876" "02329" "VCAN_000043" "g.82836241C>T" "" "" "" "VCAN(NM_004385.4):c.7419C>T (p.S2473=), VCAN(NM_004385.5):c.7419C>T (p.S2473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83540422C>T" "" "benign" "" "0000313623" "0" "10" "5" "82837631" "82837631" "subst" "0.384281" "02329" "VCAN_000052" "g.82837631G>T" "" "" "" "VCAN(NM_004385.5):c.8809G>T (p.D2937Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83541812G>T" "" "benign" "" "0000313624" "0" "10" "5" "82808072" "82808072" "subst" "0.0310565" "02329" "VCAN_000069" "g.82808072C>T" "" "" "" "VCAN(NM_004385.5):c.899C>T (p.S300L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83512253C>T" "" "benign" "" "0000313625" "0" "10" "5" "82837897" "82837897" "subst" "0.0304115" "02329" "VCAN_000054" "g.82837897G>A" "" "" "" "VCAN(NM_004385.5):c.9075G>A (p.T3025=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83542078G>A" "" "benign" "" "0000313626" "0" "10" "5" "82841476" "82841476" "subst" "0.139699" "02329" "VCAN_000056" "g.82841476T>C" "" "" "" "VCAN(NM_004385.5):c.9379+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83545657T>C" "" "benign" "" "0000313627" "0" "50" "5" "82849188" "82849188" "subst" "4.06666E-6" "02329" "VCAN_000057" "g.82849188G>A" "" "" "" "VCAN(NM_004385.5):c.9499G>A (p.E3167K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83553369G>A" "" "VUS" "" "0000313628" "0" "10" "5" "82875800" "82875800" "subst" "0.97547" "02329" "VCAN_000059" "g.82875800C>T" "" "" "" "VCAN(NM_004385.5):c.9882C>T (p.V3294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83579981C>T" "" "benign" "" "0000319503" "0" "30" "5" "82815406" "82815406" "subst" "0.00028452" "01943" "VCAN_000012" "g.82815406T>C" "" "" "" "VCAN(NM_004385.4):c.1281T>C (p.T427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83519587T>C" "" "likely benign" "" "0000319504" "0" "30" "5" "82815520" "82815520" "subst" "2.84717E-5" "01943" "VCAN_000013" "g.82815520C>T" "" "" "" "VCAN(NM_004385.4):c.1395C>T (p.G465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83519701C>T" "" "likely benign" "" "0000319505" "0" "30" "5" "82815696" "82815696" "subst" "4.06501E-6" "01943" "VCAN_000071" "g.82815696G>A" "" "" "" "VCAN(NM_004385.4):c.1571G>A (p.R524K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83519877G>A" "" "likely benign" "" "0000319506" "0" "10" "5" "82816020" "82816020" "subst" "0.000752003" "01943" "VCAN_000016" "g.82816020C>T" "" "" "" "VCAN(NM_004385.4):c.1895C>T (p.T632M), VCAN(NM_004385.5):c.1895C>T (p.T632M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83520201C>T" "" "benign" "" "0000319507" "0" "30" "5" "82786095" "82786095" "subst" "1.62656E-5" "01943" "VCAN_000064" "g.82786095C>A" "" "" "" "VCAN(NM_004385.4):c.249C>A (p.V83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83490276C>A" "" "likely benign" "" "0000319508" "0" "10" "5" "82817012" "82817012" "subst" "0.0013507" "01943" "VCAN_000076" "g.82817012C>T" "" "" "" "VCAN(NM_004385.4):c.2887C>T (p.P963S), VCAN(NM_004385.5):c.2887C>T (p.P963S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83521193C>T" "" "benign" "" "0000319509" "0" "30" "5" "82817653" "82817653" "subst" "4.07611E-6" "01943" "VCAN_000020" "g.82817653G>A" "" "" "" "VCAN(NM_004385.4):c.3528G>A (p.E1176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83521834G>A" "" "likely benign" "" "0000319510" "0" "30" "5" "82833766" "82833766" "subst" "8.15674E-5" "01943" "VCAN_000026" "g.82833766T>A" "" "" "" "VCAN(NM_004385.4):c.4944T>A (p.D1648E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83537947T>A" "" "likely benign" "" "0000319511" "0" "30" "5" "82834009" "82834009" "subst" "0.00210531" "01943" "VCAN_000027" "g.82834009G>A" "" "" "" "VCAN(NM_004385.4):c.5187G>A (p.E1729=), VCAN(NM_004385.5):c.5187G>A (p.E1729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83538190G>A" "" "likely benign" "" "0000319512" "0" "30" "5" "82834348" "82834348" "subst" "0.000228208" "01943" "VCAN_000030" "g.82834348C>T" "" "" "" "VCAN(NM_004385.4):c.5526C>T (p.A1842=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83538529C>T" "" "likely benign" "" "0000319513" "0" "30" "5" "82789493" "82789493" "subst" "0.00200361" "01943" "VCAN_000066" "g.82789493G>A" "" "" "" "VCAN(NM_004385.4):c.574G>A (p.G192R), VCAN(NM_004385.5):c.574G>A (p.G192R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83493674G>A" "" "likely benign" "" "0000319514" "0" "30" "5" "82789636" "82789636" "subst" "1.62565E-5" "01943" "VCAN_000009" "g.82789636G>A" "" "" "" "VCAN(NM_004385.4):c.634G>A (p.A212T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83493817G>A" "" "likely benign" "" "0000319515" "0" "30" "5" "82835724" "82835724" "subst" "0.00222094" "01943" "VCAN_000038" "g.82835724T>G" "" "" "" "VCAN(NM_004385.4):c.6902T>G (p.F2301C), VCAN(NM_004385.5):c.6902T>G (p.F2301C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83539905T>G" "" "likely benign" "" "0000319516" "0" "30" "5" "82835998" "82835998" "subst" "0.000305591" "01943" "VCAN_000041" "g.82835998C>T" "" "" "" "VCAN(NM_004385.4):c.7176C>T (p.N2392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83540179C>T" "" "likely benign" "" "0000319517" "0" "30" "5" "82836105" "82836105" "subst" "1.6297E-5" "01943" "VCAN_000042" "g.82836105C>T" "" "" "" "VCAN(NM_004385.4):c.7283C>T (p.P2428L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83540286C>T" "" "likely benign" "" "0000319518" "0" "30" "5" "82836241" "82836241" "subst" "0.00801876" "01943" "VCAN_000043" "g.82836241C>T" "" "" "" "VCAN(NM_004385.4):c.7419C>T (p.S2473=), VCAN(NM_004385.5):c.7419C>T (p.S2473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83540422C>T" "" "likely benign" "" "0000319519" "0" "30" "5" "82836373" "82836373" "subst" "0.00157439" "01943" "VCAN_000044" "g.82836373C>T" "" "" "" "VCAN(NM_004385.4):c.7551C>T (p.D2517=), VCAN(NM_004385.5):c.7551C>T (p.D2517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83540554C>T" "" "likely benign" "" "0000319520" "0" "50" "5" "82837100" "82837100" "subst" "0" "01943" "VCAN_000048" "g.82837100T>C" "" "" "" "VCAN(NM_004385.4):c.8278T>C (p.S2760P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83541281T>C" "" "VUS" "" "0000319521" "0" "30" "5" "82837298" "82837298" "subst" "0" "01943" "VCAN_000049" "g.82837298T>C" "" "" "" "VCAN(NM_004385.4):c.8476T>C (p.S2826P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83541479T>C" "" "likely benign" "" "0000319522" "0" "50" "5" "82808027" "82808027" "subst" "0.000438689" "01943" "VCAN_000068" "g.82808027C>T" "" "" "" "VCAN(NM_004385.4):c.854C>T (p.A285V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83512208C>T" "" "VUS" "" "0000319523" "0" "30" "5" "82837741" "82837741" "subst" "0.000309461" "01943" "VCAN_000053" "g.82837741G>T" "" "" "" "VCAN(NM_004385.4):c.8919G>T (p.Q2973H), VCAN(NM_004385.5):c.8919G>T (p.Q2973H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83541922G>T" "" "likely benign" "" "0000319524" "0" "30" "5" "82838056" "82838056" "subst" "0.00301586" "01943" "VCAN_000055" "g.82838056G>A" "" "" "" "VCAN(NM_004385.4):c.9234G>A (p.E3078=), VCAN(NM_004385.5):c.9234G>A (p.E3078=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83542237G>A" "" "likely benign" "" "0000330452" "0" "50" "5" "82817317" "82817317" "subst" "2.04879E-5" "01804" "VCAN_000100" "g.82817317T>A" "" "" "" "VCAN(NM_001164098.1):c.3192T>A (p.(Asp1064Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83521498T>A" "" "VUS" "" "0000330453" "0" "50" "5" "82835320" "82835320" "subst" "4.07731E-6" "01804" "VCAN_000033" "g.82835320T>A" "" "" "" "VCAN(NM_001164097.1):c.3537T>A (p.(Asp1179Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83539501T>A" "" "VUS" "" "0000338814" "0" "90" "5" "82832821" "82832821" "subst" "0" "02327" "VCAN_000060" "g.82832821T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83537002T>A" "" "pathogenic" "" "0000347005" "0" "30" "5" "82835589" "82835589" "subst" "0.000755744" "02327" "VCAN_000062" "g.82835589T>C" "" "" "" "VCAN(NM_004385.4):c.6767T>C (p.L2256P), VCAN(NM_004385.5):c.6767T>C (p.L2256P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83539770T>C" "" "likely benign" "" "0000499711" "10" "50" "5" "82835549" "82835549" "subst" "4.08837E-6" "01836" "VCAN_000079" "g.82835549A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.83539730A>G" "" "VUS" "" "0000499712" "20" "50" "5" "82834634" "82834634" "subst" "0" "01836" "VCAN_000078" "g.82834634T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.83538815T>C" "" "VUS" "" "0000526189" "0" "30" "5" "82779419" "82779419" "subst" "2.0335E-5" "02330" "VCAN_000080" "g.82779419A>G" "" "" "" "VCAN(NM_004385.5):c.70+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83483600A>G" "" "likely benign" "" "0000526191" "0" "50" "5" "82786083" "82786083" "subst" "0" "01943" "VCAN_000082" "g.82786083A>T" "" "" "" "VCAN(NM_004385.4):c.237A>T (p.K79N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83490264A>T" "" "VUS" "" "0000526192" "0" "30" "5" "82789493" "82789493" "subst" "0.00200361" "02330" "VCAN_000066" "g.82789493G>A" "" "" "" "VCAN(NM_004385.4):c.574G>A (p.G192R), VCAN(NM_004385.5):c.574G>A (p.G192R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83493674G>A" "" "likely benign" "" "0000526193" "0" "10" "5" "82808061" "82808061" "subst" "4.06233E-6" "02330" "VCAN_000083" "g.82808061C>T" "" "" "" "VCAN(NM_004385.5):c.888C>T (p.Y296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83512242C>T" "" "benign" "" "0000526194" "0" "50" "5" "82808215" "82808215" "subst" "1.22896E-5" "02330" "VCAN_000084" "g.82808215C>T" "" "" "" "VCAN(NM_001126336.3):c.1042C>T (p.R348*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83512396C>T" "" "VUS" "" "0000526195" "0" "10" "5" "82815158" "82815158" "subst" "0.0306095" "02329" "VCAN_000085" "g.82815158A>G" "" "" "" "VCAN(NM_004385.5):c.1043-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83519339A>G" "" "benign" "" "0000526196" "0" "30" "5" "82815252" "82815252" "subst" "4.87607E-5" "02327" "VCAN_000086" "g.82815252A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83519433A>C" "" "likely benign" "" "0000526197" "0" "30" "5" "82815316" "82815316" "subst" "0.000158485" "01943" "VCAN_000087" "g.82815316C>T" "" "" "" "VCAN(NM_004385.4):c.1191C>T (p.P397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83519497C>T" "" "likely benign" "" "0000526198" "0" "10" "5" "82815352" "82815352" "subst" "4.47122E-5" "01943" "VCAN_000088" "g.82815352A>G" "" "" "" "VCAN(NM_004385.4):c.1227A>G (p.T409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83519533A>G" "" "benign" "" "0000526199" "0" "30" "5" "82815368" "82815368" "subst" "0.000414594" "01943" "VCAN_000011" "g.82815368A>G" "" "" "" "VCAN(NM_004385.4):c.1243A>G (p.I415V), VCAN(NM_004385.5):c.1243A>G (p.I415V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83519549A>G" "" "likely benign" "" "0000526200" "0" "30" "5" "82815525" "82815525" "subst" "0.000414813" "01943" "VCAN_000014" "g.82815525C>T" "" "" "" "VCAN(NM_004385.4):c.1400C>T (p.S467F), VCAN(NM_004385.5):c.1400C>T (p.S467F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83519706C>T" "" "likely benign" "" "0000526201" "0" "30" "5" "82815648" "82815648" "subst" "0.00256158" "02330" "VCAN_000089" "g.82815648T>A" "" "" "" "VCAN(NM_004385.4):c.1523T>A (p.I508N), VCAN(NM_004385.5):c.1523T>A (p.I508N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83519829T>A" "" "likely benign" "" "0000526202" "0" "30" "5" "82815648" "82815648" "subst" "0.00256158" "01943" "VCAN_000089" "g.82815648T>A" "" "" "" "VCAN(NM_004385.4):c.1523T>A (p.I508N), VCAN(NM_004385.5):c.1523T>A (p.I508N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83519829T>A" "" "likely benign" "" "0000526203" "0" "10" "5" "82815648" "82815648" "subst" "0.00256158" "02329" "VCAN_000089" "g.82815648T>A" "" "" "" "VCAN(NM_004385.4):c.1523T>A (p.I508N), VCAN(NM_004385.5):c.1523T>A (p.I508N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83519829T>A" "" "benign" "" "0000526204" "0" "30" "5" "82816020" "82816020" "subst" "0" "01943" "VCAN_000090" "g.82816020C>A" "" "" "" "VCAN(NM_004385.4):c.1895C>A (p.T632K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83520201C>A" "" "likely benign" "" "0000526205" "0" "30" "5" "82816153" "82816153" "subst" "0.00041725" "01943" "VCAN_000073" "g.82816153A>G" "" "" "" "VCAN(NM_004385.4):c.2028A>G (p.L676=), VCAN(NM_004385.5):c.2028A>G (p.L676=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83520334A>G" "" "likely benign" "" "0000526206" "0" "10" "5" "82816190" "82816190" "subst" "0.0096307" "02329" "VCAN_000091" "g.82816190A>G" "" "" "" "VCAN(NM_004385.5):c.2065A>G (p.T689A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83520371A>G" "" "benign" "" "0000526207" "0" "50" "5" "82816226" "82816226" "subst" "0" "01943" "VCAN_000092" "g.82816226G>A" "" "" "" "VCAN(NM_004385.4):c.2101G>A (p.D701N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83520407G>A" "" "VUS" "" "0000526208" "0" "10" "5" "82816345" "82816345" "subst" "0.00031761" "02330" "VCAN_000093" "g.82816345T>C" "" "" "" "VCAN(NM_004385.5):c.2220T>C (p.S740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83520526T>C" "" "benign" "" "0000526209" "0" "50" "5" "82816359" "82816359" "subst" "0.000248396" "01943" "VCAN_000094" "g.82816359A>C" "" "" "" "VCAN(NM_004385.4):c.2234A>C (p.K745T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83520540A>C" "" "VUS" "" "0000526210" "0" "10" "5" "82816503" "82816503" "subst" "0.00187861" "02330" "VCAN_000095" "g.82816503T>C" "" "" "" "VCAN(NM_004385.5):c.2378T>C (p.L793S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83520684T>C" "" "benign" "" "0000526211" "0" "50" "5" "82816781" "82816781" "subst" "0.000105887" "01943" "VCAN_000096" "g.82816781A>G" "" "" "" "VCAN(NM_004385.4):c.2656A>G (p.T886A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83520962A>G" "" "VUS" "" "0000526212" "0" "30" "5" "82816791" "82816791" "subst" "0.000415472" "01943" "VCAN_000075" "g.82816791C>T" "" "" "" "VCAN(NM_004385.4):c.2666C>T (p.T889I), VCAN(NM_004385.5):c.2666C>T (p.T889I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83520972C>T" "" "likely benign" "" "0000526213" "0" "30" "5" "82816909" "82816909" "subst" "3.66035E-5" "01943" "VCAN_000097" "g.82816909A>G" "" "" "" "VCAN(NM_004385.4):c.2784A>G (p.V928=), VCAN(NM_004385.5):c.2784A>G (p.V928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83521090A>G" "" "likely benign" "" "0000526214" "0" "50" "5" "82817016" "82817016" "subst" "8.15847E-6" "01943" "VCAN_000098" "g.82817016C>T" "" "" "" "VCAN(NM_004385.4):c.2891C>T (p.T964I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83521197C>T" "" "VUS" "" "0000526215" "0" "30" "5" "82817201" "82817201" "subst" "0.000158911" "02330" "VCAN_000019" "g.82817201A>G" "" "" "" "VCAN(NM_004385.4):c.3076A>G (p.I1026V), VCAN(NM_004385.5):c.3076A>G (p.I1026V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83521382A>G" "" "likely benign" "" "0000526216" "0" "10" "5" "82817219" "82817219" "subst" "0.000220201" "02330" "VCAN_000099" "g.82817219C>G" "" "" "" "VCAN(NM_004385.5):c.3094C>G (p.Q1032E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83521400C>G" "" "benign" "" "0000526217" "0" "30" "5" "82817656" "82817656" "subst" "1.22245E-5" "01943" "VCAN_000101" "g.82817656T>C" "" "" "" "VCAN(NM_004385.4):c.3531T>C (p.D1177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83521837T>C" "" "likely benign" "" "0000526218" "0" "10" "5" "82817764" "82817764" "subst" "0" "02330" "VCAN_000102" "g.82817764A>G" "" "" "" "VCAN(NM_004385.5):c.3639A>G (p.S1213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83521945A>G" "" "benign" "" "0000526219" "0" "50" "5" "82818084" "82818084" "subst" "1.73331E-5" "02330" "VCAN_000103" "g.82818084C>T" "" "" "" "VCAN(NM_004385.5):c.3959C>T (p.P1320L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83522265C>T" "" "VUS" "" "0000526220" "0" "90" "5" "82832821" "82832821" "subst" "0" "01943" "VCAN_000061" "g.82832821T>C" "" "" "" "VCAN(NM_004385.4):c.4004-5T>C, VCAN(NM_004385.5):c.4004-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83537002T>C" "" "pathogenic" "" "0000526221" "0" "30" "5" "82833040" "82833040" "subst" "4.08834E-6" "01943" "VCAN_000104" "g.82833040A>G" "" "" "" "VCAN(NM_004385.4):c.4218A>G (p.P1406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83537221A>G" "" "likely benign" "" "0000526222" "0" "50" "5" "82833288" "82833288" "subst" "4.48928E-5" "01943" "VCAN_000105" "g.82833288C>T" "" "" "" "VCAN(NM_004385.4):c.4466C>T (p.T1489I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83537469C>T" "" "VUS" "" "0000526223" "0" "30" "5" "82833374" "82833374" "subst" "4.08844E-6" "02330" "VCAN_000106" "g.82833374G>T" "" "" "" "VCAN(NM_004385.5):c.4552G>T (p.G1518W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83537555G>T" "" "likely benign" "" "0000526224" "0" "30" "5" "82833421" "82833421" "subst" "0.00014303" "02330" "VCAN_000107" "g.82833421A>T" "" "" "" "VCAN(NM_004385.5):c.4599A>T (p.A1533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83537602A>T" "" "likely benign" "" "0000526225" "0" "30" "5" "82833426" "82833426" "subst" "0.00283645" "02325" "VCAN_000025" "g.82833426A>G" "" "" "" "VCAN(NM_004385.4):c.4604A>G (p.E1535G), VCAN(NM_004385.5):c.4604A>G (p.E1535G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83537607A>G" "" "likely benign" "" "0000526226" "0" "10" "5" "82833584" "82833584" "subst" "0.000639475" "02330" "VCAN_000108" "g.82833584C>A" "" "" "" "VCAN(NM_004385.5):c.4762C>A (p.P1588T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83537765C>A" "" "benign" "" "0000526227" "0" "10" "5" "82834396" "82834396" "subst" "4.07368E-6" "02330" "VCAN_000109" "g.82834396T>C" "" "" "" "VCAN(NM_004385.5):c.5574T>C (p.Y1858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83538577T>C" "" "benign" "" "0000526228" "0" "50" "5" "82834437" "82834437" "subst" "0.000529493" "01943" "VCAN_000110" "g.82834437C>T" "" "" "" "VCAN(NM_004385.4):c.5615C>T (p.P1872L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83538618C>T" "" "VUS" "" "0000526229" "0" "30" "5" "82835304" "82835304" "subst" "0.000150924" "02330" "VCAN_000111" "g.82835304A>G" "" "" "" "VCAN(NM_004385.5):c.6482A>G (p.K2161R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83539485A>G" "" "likely benign" "" "0000526230" "0" "30" "5" "82835589" "82835589" "subst" "0.000755744" "02330" "VCAN_000062" "g.82835589T>C" "" "" "" "VCAN(NM_004385.4):c.6767T>C (p.L2256P), VCAN(NM_004385.5):c.6767T>C (p.L2256P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83539770T>C" "" "likely benign" "" "0000526231" "0" "50" "5" "82835589" "82835589" "subst" "0.000755744" "01943" "VCAN_000062" "g.82835589T>C" "" "" "" "VCAN(NM_004385.4):c.6767T>C (p.L2256P), VCAN(NM_004385.5):c.6767T>C (p.L2256P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83539770T>C" "" "VUS" "" "0000526232" "0" "30" "5" "82835724" "82835724" "subst" "0.00222094" "02330" "VCAN_000038" "g.82835724T>G" "" "" "" "VCAN(NM_004385.4):c.6902T>G (p.F2301C), VCAN(NM_004385.5):c.6902T>G (p.F2301C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83539905T>G" "" "likely benign" "" "0000526233" "0" "50" "5" "82835822" "82835822" "subst" "0" "02330" "VCAN_000112" "g.82835822G>T" "" "" "" "VCAN(NM_004385.5):c.7000G>T (p.E2334*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83540003G>T" "" "VUS" "" "0000526234" "0" "30" "5" "82835999" "82835999" "subst" "7.74114E-5" "02330" "VCAN_000113" "g.82835999G>A" "" "" "" "VCAN(NM_004385.5):c.7177G>A (p.E2393K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83540180G>A" "" "likely benign" "" "0000526235" "0" "30" "5" "82836201" "82836201" "subst" "0.00024013" "02330" "VCAN_000114" "g.82836201T>C" "" "" "" "VCAN(NM_004385.5):c.7379T>C (p.V2460A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83540382T>C" "" "likely benign" "" "0000526236" "0" "10" "5" "82836403" "82836403" "subst" "0.000106179" "02330" "VCAN_000115" "g.82836403C>T" "" "" "" "VCAN(NM_004385.4):c.7581C>T (p.F2527=), VCAN(NM_004385.5):c.7581C>T (p.F2527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83540584C>T" "" "benign" "" "0000526237" "0" "30" "5" "82836403" "82836403" "subst" "0.000106179" "01943" "VCAN_000115" "g.82836403C>T" "" "" "" "VCAN(NM_004385.4):c.7581C>T (p.F2527=), VCAN(NM_004385.5):c.7581C>T (p.F2527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83540584C>T" "" "likely benign" "" "0000526238" "0" "50" "5" "82836537" "82836537" "subst" "0.000453828" "01943" "VCAN_000116" "g.82836537C>T" "" "" "" "VCAN(NM_004385.4):c.7715C>T (p.S2572L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83540718C>T" "" "VUS" "" "0000526239" "0" "50" "5" "82836575" "82836575" "subst" "0" "01943" "VCAN_000117" "g.82836575C>A" "" "" "" "VCAN(NM_004385.4):c.7753C>A (p.P2585T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83540756C>A" "" "VUS" "" "0000526240" "0" "30" "5" "82836690" "82836690" "subst" "2.85197E-5" "02330" "VCAN_000118" "g.82836690A>G" "" "" "" "VCAN(NM_004385.4):c.7868A>G (p.Y2623C), VCAN(NM_004385.5):c.7868A>G (p.Y2623C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83540871A>G" "" "likely benign" "" "0000526241" "0" "30" "5" "82836834" "82836834" "subst" "0.000224298" "02330" "VCAN_000119" "g.82836834C>A" "" "" "" "VCAN(NM_004385.5):c.8012C>A (p.T2671K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83541015C>A" "" "likely benign" "" "0000526242" "0" "50" "5" "82836889" "82836889" "subst" "0.000159281" "02330" "VCAN_000120" "g.82836889G>A" "" "" "" "VCAN(NM_004385.5):c.8067G>A (p.T2689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83541070G>A" "" "VUS" "" "0000526243" "0" "10" "5" "82837360" "82837360" "subst" "0" "02330" "VCAN_000121" "g.82837360C>T" "" "" "" "VCAN(NM_004385.5):c.8538C>T (p.P2846=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83541541C>T" "" "benign" "" "0000526245" "0" "10" "5" "82838056" "82838056" "subst" "0.00301586" "02330" "VCAN_000055" "g.82838056G>A" "" "" "" "VCAN(NM_004385.4):c.9234G>A (p.E3078=), VCAN(NM_004385.5):c.9234G>A (p.E3078=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83542237G>A" "" "benign" "" "0000526246" "0" "10" "5" "82838056" "82838056" "subst" "0.00301586" "02329" "VCAN_000055" "g.82838056G>A" "" "" "" "VCAN(NM_004385.4):c.9234G>A (p.E3078=), VCAN(NM_004385.5):c.9234G>A (p.E3078=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83542237G>A" "" "benign" "" "0000526247" "0" "30" "5" "82841381" "82841381" "subst" "8.54006E-5" "02329" "VCAN_000123" "g.82841381G>A" "" "" "" "VCAN(NM_004385.5):c.9291G>A (p.P3097=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83545562G>A" "" "likely benign" "" "0000526248" "0" "50" "5" "82850808" "82850808" "subst" "2.44031E-5" "01943" "VCAN_000124" "g.82850808A>G" "" "" "" "VCAN(NM_004385.4):c.9686A>G (p.N3229S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83554989A>G" "" "VUS" "" "0000526249" "0" "30" "5" "82868257" "82868257" "subst" "0.000207412" "02330" "VCAN_000125" "g.82868257A>G" "" "" "" "VCAN(NM_004385.4):c.9758A>G (p.N3253S), VCAN(NM_004385.5):c.9758A>G (p.N3253S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83572438A>G" "" "likely benign" "" "0000526250" "0" "50" "5" "82868257" "82868257" "subst" "0.000207412" "01943" "VCAN_000125" "g.82868257A>G" "" "" "" "VCAN(NM_004385.4):c.9758A>G (p.N3253S), VCAN(NM_004385.5):c.9758A>G (p.N3253S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83572438A>G" "" "VUS" "" "0000609810" "0" "30" "5" "82807913" "82807913" "subst" "0" "02330" "VCAN_000126" "g.82807913T>C" "" "" "" "VCAN(NM_004385.5):c.749-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83512094T>C" "" "likely benign" "" "0000609811" "0" "30" "5" "82815317" "82815317" "subst" "0.000321055" "01943" "VCAN_000127" "g.82815317G>A" "" "" "" "VCAN(NM_004385.4):c.1192G>A (p.V398M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83519498G>A" "" "likely benign" "" "0000609812" "0" "10" "5" "82815989" "82815989" "subst" "0.000400982" "02330" "VCAN_000128" "g.82815989T>C" "" "" "" "VCAN(NM_004385.5):c.1864T>C (p.W622R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83520170T>C" "" "benign" "" "0000609813" "0" "50" "5" "82816056" "82816056" "subst" "0.000371062" "01943" "VCAN_000072" "g.82816056C>T" "" "" "" "VCAN(NM_004385.4):c.1931C>T (p.P644L), VCAN(NM_004385.5):c.1931C>T (p.P644L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83520237C>T" "" "VUS" "" "0000609814" "0" "10" "5" "82817012" "82817012" "subst" "0.0013507" "02330" "VCAN_000076" "g.82817012C>T" "" "" "" "VCAN(NM_004385.4):c.2887C>T (p.P963S), VCAN(NM_004385.5):c.2887C>T (p.P963S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83521193C>T" "" "benign" "" "0000609815" "0" "30" "5" "82817313" "82817313" "subst" "0.00048346" "02330" "VCAN_000129" "g.82817313T>C" "" "" "" "VCAN(NM_004385.5):c.3188T>C (p.L1063P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83521494T>C" "" "likely benign" "" "0000609816" "0" "10" "5" "82817326" "82817326" "subst" "0.000573869" "02330" "VCAN_000130" "g.82817326G>A" "" "" "" "VCAN(NM_004385.5):c.3201G>A (p.E1067=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83521507G>A" "" "benign" "" "0000609817" "0" "50" "5" "82832829" "82832829" "subst" "0.000111632" "01943" "VCAN_000131" "g.82832829G>A" "" "" "" "VCAN(NM_004385.4):c.4007G>A (p.R1336Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83537010G>A" "" "VUS" "" "0000609818" "0" "30" "5" "82833216" "82833216" "subst" "2.03804E-5" "01943" "VCAN_000132" "g.82833216T>C" "" "" "" "VCAN(NM_004385.4):c.4394T>C (p.V1465A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83537397T>C" "" "likely benign" "" "0000609819" "0" "30" "5" "82834910" "82834910" "subst" "0.000154922" "01943" "VCAN_000133" "g.82834910G>T" "" "" "" "VCAN(NM_004385.4):c.6088G>T (p.V2030L), VCAN(NM_004385.5):c.6088G>T (p.V2030L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83539091G>T" "" "likely benign" "" "0000609820" "0" "30" "5" "82836315" "82836315" "subst" "5.708E-5" "01943" "VCAN_000135" "g.82836315G>T" "" "" "" "VCAN(NM_004385.4):c.7493G>T (p.S2498I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83540496G>T" "" "likely benign" "" "0000609821" "0" "50" "5" "82841391" "82841391" "subst" "1.22004E-5" "01943" "VCAN_000136" "g.82841391G>A" "" "" "" "VCAN(NM_004385.4):c.9301G>A (p.G3101R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83545572G>A" "" "VUS" "" "0000621596" "0" "30" "5" "82789493" "82789493" "subst" "0.00200361" "02325" "VCAN_000066" "g.82789493G>A" "" "" "" "VCAN(NM_004385.4):c.574G>A (p.G192R), VCAN(NM_004385.5):c.574G>A (p.G192R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83493674G>A" "" "likely benign" "" "0000621597" "0" "30" "5" "82835587" "82835587" "subst" "8.1712E-6" "01943" "VCAN_000134" "g.82835587A>G" "" "" "" "VCAN(NM_004385.4):c.6765A>G (p.G2255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83539768A>G" "" "likely benign" "" "0000632000" "1" "90" "5" "82833941" "82833941" "del" "0" "00006" "VCAN_000137" "g.82833941del" "" "{PMID:Kastner 2015:26720455" "" "5118_5118delA" "" "Germline" "yes" "" "0" "" "" "g.83538122del" "" "pathogenic (dominant)" "" "0000651775" "1" "10" "5" "82815170" "82815170" "subst" "0.030777" "03575" "VCAN_000010" "g.82815170A>G" "120/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "120 heterozygous; {DB:CLININrs61749613}" "Germline" "" "rs61749613" "0" "" "" "g.83519351A>G" "" "benign" "" "0000651776" "1" "30" "5" "82876284" "82876284" "subst" "0.0186609" "03575" "VCAN_000138" "g.82876284A>G" "36/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "36 heterozygous, no homozygous; {DB:CLININrs17206014}" "Germline" "" "rs17206014" "0" "" "" "g.83580465A>G" "" "likely benign" "" "0000655420" "0" "30" "5" "82789441" "82789441" "subst" "0.00010568" "01943" "VCAN_000139" "g.82789441C>T" "" "" "" "VCAN(NM_004385.4):c.522C>T (p.D174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83493622C>T" "" "likely benign" "" "0000655421" "0" "10" "5" "82816020" "82816020" "subst" "0.000752003" "02330" "VCAN_000016" "g.82816020C>T" "" "" "" "VCAN(NM_004385.4):c.1895C>T (p.T632M), VCAN(NM_004385.5):c.1895C>T (p.T632M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83520201C>T" "" "benign" "" "0000655423" "0" "30" "5" "82841450" "82841450" "subst" "2.44093E-5" "01943" "VCAN_000140" "g.82841450C>T" "" "" "" "VCAN(NM_004385.4):c.9360C>T (p.S3120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83545631C>T" "" "likely benign" "" "0000669860" "3" "10" "5" "82815170" "82815170" "subst" "0.030777" "03575" "VCAN_000010" "g.82815170A>G" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs61749613}" "Germline" "" "rs61749613" "0" "" "" "g.83519351A>G" "" "benign" "" "0000677555" "0" "30" "5" "82817020" "82817020" "subst" "4.07897E-6" "01943" "VCAN_000141" "g.82817020T>G" "" "" "" "VCAN(NM_004385.4):c.2895T>G (p.T965=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677556" "0" "30" "5" "82835509" "82835509" "subst" "3.67749E-5" "01943" "VCAN_000142" "g.82835509G>A" "" "" "" "VCAN(NM_004385.4):c.6687G>A (p.K2229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677557" "0" "50" "5" "82836690" "82836690" "subst" "2.85197E-5" "01943" "VCAN_000118" "g.82836690A>G" "" "" "" "VCAN(NM_004385.4):c.7868A>G (p.Y2623C), VCAN(NM_004385.5):c.7868A>G (p.Y2623C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677558" "0" "30" "5" "82837714" "82837714" "subst" "1.221E-5" "01943" "VCAN_000143" "g.82837714T>A" "" "" "" "VCAN(NM_004385.4):c.8892T>A (p.D2964E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689556" "0" "30" "5" "82815376" "82815376" "subst" "7.72282E-5" "01943" "VCAN_000144" "g.82815376T>C" "" "" "" "VCAN(NM_004385.4):c.1251T>C (p.D417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689557" "0" "50" "5" "82816463" "82816463" "subst" "0" "01943" "VCAN_000145" "g.82816463G>T" "" "" "" "VCAN(NM_004385.4):c.2338G>T (p.D780Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720514" "0" "50" "5" "82833198" "82833198" "subst" "3.66706E-5" "02330" "VCAN_000146" "g.82833198C>T" "" "" "" "VCAN(NM_004385.5):c.4376C>T (p.T1459M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720515" "0" "30" "5" "82835360" "82835360" "subst" "0" "01943" "VCAN_000147" "g.82835360A>G" "" "" "" "VCAN(NM_004385.4):c.6538A>G (p.M2180V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720516" "0" "50" "5" "82837741" "82837741" "subst" "0.000309461" "02329" "VCAN_000053" "g.82837741G>T" "" "" "" "VCAN(NM_004385.4):c.8919G>T (p.Q2973H), VCAN(NM_004385.5):c.8919G>T (p.Q2973H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720517" "0" "30" "5" "82837847" "82837847" "subst" "0.000294681" "01943" "VCAN_000148" "g.82837847G>A" "" "" "" "VCAN(NM_004385.4):c.9025G>A (p.E3009K), VCAN(NM_004385.5):c.9025G>A (p.E3009K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720518" "0" "30" "5" "82841456" "82841456" "subst" "0.000195255" "02329" "VCAN_000149" "g.82841456C>T" "" "" "" "VCAN(NM_004385.5):c.9366C>T (p.D3122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000736857" "1" "50" "5" "82833005" "82833007" "del" "0" "00000" "VCAN_000150" "g.82833005_82833007del" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs758450587" "0" "" "" "g.83537186_83537188del" "" "VUS" "" "0000759965" "0" "50" "5" "82816020" "82816020" "subst" "0.000752003" "00000" "VCAN_000016" "g.82816020C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.83520201C>T" "" "VUS" "" "0000760005" "0" "50" "5" "82816359" "82816359" "subst" "0.000248396" "00000" "VCAN_000094" "g.82816359A>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.83520540A>C" "" "VUS" "" "0000784605" "0" "50" "5" "82786175" "82786175" "subst" "5.69471E-5" "00000" "VCAN_000151" "g.82786175T>G" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "1/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.83490356T>G" "" "VUS" "" "0000784625" "0" "50" "5" "82876126" "82876126" "subst" "4.08293E-6" "00000" "VCAN_000152" "g.82876126C>T" "2/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.83580307C>T" "" "VUS" "" "0000788333" "0" "50" "5" "82835958" "82835958" "subst" "8.15076E-6" "00000" "VCAN_000155" "g.82835958A>T" "" "{PMID:Katagiri 2014:25268133}" "" "A7136T" "" "Germline" "" "" "0" "" "" "g.83540139A>T" "" "VUS" "" "0000788367" "0" "50" "5" "82836597" "82836597" "subst" "0" "00000" "VCAN_000156" "g.82836597G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G7775A" "" "Germline" "" "" "0" "" "" "g.83540778G>A" "" "VUS" "" "0000788375" "0" "50" "5" "82816229" "82816229" "subst" "4.92017E-5" "00000" "VCAN_000153" "g.82816229G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G2104A" "" "Germline" "" "rs201590497" "0" "" "" "g.83520410G>A" "" "VUS" "" "0000788448" "0" "50" "5" "82836105" "82836105" "subst" "1.6297E-5" "00000" "VCAN_000042" "g.82836105C>T" "" "{PMID:Katagiri 2014:25268133}" "" "C7283T" "" "Germline" "" "" "0" "" "" "g.83540286C>T" "" "VUS" "" "0000788459" "0" "50" "5" "82835958" "82835958" "subst" "8.15076E-6" "00000" "VCAN_000155" "g.82835958A>T" "" "{PMID:Katagiri 2014:25268133}" "" "A7136T" "" "Germline" "" "rs201642515" "0" "" "" "g.83540139A>T" "" "VUS" "" "0000788496" "0" "50" "5" "82833933" "82833933" "subst" "4.07349E-6" "00000" "VCAN_000154" "g.82833933A>G" "" "{PMID:Katagiri 2014:25268133}" "" "A5111G" "" "Germline" "" "" "0" "" "" "g.83538114A>G" "" "VUS" "" "0000795949" "0" "70" "5" "82836692" "82836692" "subst" "1.22221E-5" "00000" "VCAN_000157" "g.82836692G>A" "" "{PMID:Chen-2013:23462753}" "" "c.7870G>A(p.Glu2624Lys)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000795951" "0" "70" "5" "82832825" "82832825" "subst" "0" "00000" "VCAN_000158" "g.82832825G>T" "" "{PMID:Chen-2013:23462753}" "" "c.4004-1G>T(p.Gly1335Asp1348del†)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000802197" "0" "30" "5" "82818058" "82818058" "subst" "0" "02329" "VCAN_000159" "g.82818058G>A" "" "" "" "VCAN(NM_004385.5):c.3933G>A (p.Q1311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802198" "0" "30" "5" "82833426" "82833426" "subst" "0.00283645" "02329" "VCAN_000025" "g.82833426A>G" "" "" "" "VCAN(NM_004385.4):c.4604A>G (p.E1535G), VCAN(NM_004385.5):c.4604A>G (p.E1535G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802199" "0" "10" "5" "82834948" "82834948" "subst" "0.000847603" "02330" "VCAN_000160" "g.82834948C>T" "" "" "" "VCAN(NM_004385.5):c.6126C>T (p.D2042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802200" "0" "30" "5" "82837443" "82837443" "subst" "0.000155292" "01943" "VCAN_000050" "g.82837443C>T" "" "" "" "VCAN(NM_004385.4):c.8621C>T (p.A2874V), VCAN(NM_004385.5):c.8621C>T (p.A2874V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802201" "0" "30" "5" "82875878" "82875878" "subst" "0.000426729" "01943" "VCAN_000161" "g.82875878G>C" "" "" "" "VCAN(NM_004385.4):c.9960G>C (p.L3320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000819995" "1" "70" "5" "82832824" "82832824" "subst" "0" "00000" "VCAN_000162" "g.82832824A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "VCAN, variant 1: c.4004-2A>C/p.?" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.83537005A>C" "" "likely pathogenic" "" "0000850973" "0" "50" "5" "82779395" "82779395" "subst" "0" "01943" "VCAN_000163" "g.82779395G>A" "" "" "" "VCAN(NM_004385.4):c.58G>A (p.A20T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850974" "0" "50" "5" "82817874" "82817874" "subst" "0" "02330" "VCAN_000168" "g.82817874T>G" "" "" "" "VCAN(NM_004385.5):c.3749T>G (p.I1250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850975" "0" "30" "5" "82835589" "82835589" "subst" "0.000755744" "02325" "VCAN_000062" "g.82835589T>C" "" "" "" "VCAN(NM_004385.4):c.6767T>C (p.L2256P), VCAN(NM_004385.5):c.6767T>C (p.L2256P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850976" "0" "30" "5" "82836538" "82836538" "subst" "2.45284E-5" "01943" "VCAN_000169" "g.82836538G>A" "" "" "" "VCAN(NM_004385.4):c.7716G>A (p.S2572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850977" "0" "30" "5" "82849249" "82849249" "subst" "0.000219684" "02325" "VCAN_000058" "g.82849249G>A" "" "" "" "VCAN(NM_004385.5):c.9560G>A (p.R3187Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860014" "0" "10" "5" "82807936" "82807936" "subst" "0.000377904" "02330" "VCAN_000164" "g.82807936C>T" "" "" "" "VCAN(NM_004385.5):c.763C>T (p.L255F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860015" "0" "30" "5" "82815696" "82815696" "subst" "0" "01943" "VCAN_000165" "g.82815696G>C" "" "" "" "VCAN(NM_004385.4):c.1571G>C (p.R524T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860016" "0" "30" "5" "82815956" "82815956" "subst" "7.76759E-5" "01943" "VCAN_000166" "g.82815956A>G" "" "" "" "VCAN(NM_004385.4):c.1831A>G (p.M611V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860017" "0" "10" "5" "82817012" "82817012" "subst" "0.0013507" "02329" "VCAN_000076" "g.82817012C>T" "" "" "" "VCAN(NM_004385.4):c.2887C>T (p.P963S), VCAN(NM_004385.5):c.2887C>T (p.P963S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860018" "0" "50" "5" "82817330" "82817330" "subst" "3.27971E-5" "01943" "VCAN_000167" "g.82817330G>A" "" "" "" "VCAN(NM_004385.4):c.3205G>A (p.D1069N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000873467" "0" "70" "5" "82836692" "82836692" "subst" "1.22221E-5" "00000" "VCAN_000157" "g.82836692G>A" "120" "{PMID:Sun 2018:30076350}" "" "VCAN (NM_004385.4):c.7870G>A(p.E2624K)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.83540873G>A" "" "likely pathogenic" "" "0000878523" "1" "90" "5" "82832821" "82832821" "subst" "0" "00006" "VCAN_000061" "g.82832821T>C" "" "{PMID:Mukhopadhyay 2006:16877430}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000878524" "1" "90" "5" "82832821" "82832821" "subst" "0" "00006" "VCAN_000061" "g.82832821T>C" "" "{PMID:Mukhopadhyay 2006:16877430}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000878525" "1" "90" "5" "82832821" "82832821" "subst" "0" "00006" "VCAN_000060" "g.82832821T>A" "" "{PMID:Mukhopadhyay 2006:16877430}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000878526" "1" "90" "5" "82832821" "82832821" "subst" "0" "00006" "VCAN_000061" "g.82832821T>C" "" "{PMID:Mukhopadhyay 2006:16877430}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000878527" "1" "90" "5" "82832821" "82832821" "subst" "0" "00006" "VCAN_000061" "g.82832821T>C" "" "{PMID:Mukhopadhyay 2006:16877430}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000878528" "1" "90" "5" "82832821" "82832821" "subst" "0" "00006" "VCAN_000061" "g.82832821T>C" "" "{PMID:Mukhopadhyay 2006:16877430}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000878529" "1" "90" "5" "82832825" "82832825" "subst" "0" "00006" "VCAN_000170" "g.82832825G>A" "" "{PMID:Mukhopadhyay 2006:16877430}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000878530" "1" "90" "5" "82832824" "82832824" "subst" "0" "00006" "VCAN_000171" "g.82832824A>T" "" "{PMID:Brezin 2011:21738396}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000878531" "1" "90" "5" "82832825" "82832825" "subst" "0" "00006" "VCAN_000172" "g.82832825G>C" "" "{PMID:Kloeckener-Gruissem 2013:22739342}" "" "" "" "Germline" "yes" "" "0" "" "" "g.83537006G>C" "" "pathogenic (dominant)" "" "0000878532" "1" "90" "5" "82838089" "82838089" "subst" "0" "00006" "VCAN_000173" "g.82838089T>A" "" "{PMID:Kloeckener-Gruissem 2013:22739342}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000886923" "0" "90" "5" "82832821" "82832821" "subst" "0" "02330" "VCAN_000061" "g.82832821T>C" "" "" "" "VCAN(NM_004385.4):c.4004-5T>C, VCAN(NM_004385.5):c.4004-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886924" "0" "10" "5" "82833977" "82833977" "subst" "0.00287049" "02329" "VCAN_000174" "g.82833977A>T" "" "" "" "VCAN(NM_004385.5):c.5155A>T (p.T1719S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886925" "0" "10" "5" "82834398" "82834398" "subst" "0.00288038" "02329" "VCAN_000175" "g.82834398C>A" "" "" "" "VCAN(NM_004385.5):c.5576C>A (p.A1859E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886926" "0" "10" "5" "82834945" "82834945" "subst" "0.00281208" "02329" "VCAN_000176" "g.82834945C>T" "" "" "" "VCAN(NM_004385.5):c.6123C>T (p.I2041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886927" "0" "10" "5" "82835059" "82835059" "subst" "0.00279833" "02329" "VCAN_000177" "g.82835059G>A" "" "" "" "VCAN(NM_004385.5):c.6237G>A (p.K2079=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000902100" "0" "70" "5" "82838088" "82838088" "subst" "0" "00000" "VCAN_000178" "g.82838088G>T" "" "{PMID:Ronan 2009:19901218}" "" "VCAN c.9265+1G>T, p.?" "heterozygous" "Germline" "yes" "" "0" "" "" "g.83542269G>T" "" "likely pathogenic" "" "0000902101" "11" "70" "5" "82838088" "82838088" "subst" "0" "00000" "VCAN_000178" "g.82838088G>T" "" "{PMID:Ronan 2009:19901218}" "" "VCAN c.9265+1G>T, p.?" "heterozygous" "Germline" "yes" "" "0" "" "" "g.83542269G>T" "" "likely pathogenic" "" "0000902102" "11" "70" "5" "82838088" "82838088" "subst" "0" "00000" "VCAN_000178" "g.82838088G>T" "" "{PMID:Ronan 2009:19901218}" "" "VCAN c.9265+1G>T, p.?" "heterozygous" "Germline" "yes" "" "0" "" "" "g.83542269G>T" "" "likely pathogenic" "" "0000902103" "21" "70" "5" "82838088" "82838088" "subst" "0" "00000" "VCAN_000178" "g.82838088G>T" "" "{PMID:Ronan 2009:19901218}" "" "VCAN c.9265+1G>T, p.?" "heterozygous" "Germline" "yes" "" "0" "" "" "g.83542269G>T" "" "likely pathogenic" "" "0000902104" "21" "70" "5" "82838088" "82838088" "subst" "0" "00000" "VCAN_000178" "g.82838088G>T" "" "{PMID:Ronan 2009:19901218}" "" "VCAN c.9265+1G>T, p.?" "heterozygous" "Germline" "yes" "" "0" "" "" "g.83542269G>T" "" "likely pathogenic" "" "0000902105" "21" "70" "5" "82838088" "82838088" "subst" "0" "00000" "VCAN_000178" "g.82838088G>T" "" "{PMID:Ronan 2009:19901218}" "" "VCAN c.9265+1G>T, p.?" "heterozygous" "Germline" "yes" "" "0" "" "" "g.83542269G>T" "" "likely pathogenic" "" "0000912367" "0" "30" "5" "82808100" "82808100" "subst" "0.000690967" "02330" "VCAN_000179" "g.82808100T>C" "" "" "" "VCAN(NM_004385.5):c.927T>C (p.T309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912368" "0" "30" "5" "82837847" "82837847" "subst" "0.000294681" "02330" "VCAN_000148" "g.82837847G>A" "" "" "" "VCAN(NM_004385.4):c.9025G>A (p.E3009K), VCAN(NM_004385.5):c.9025G>A (p.E3009K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912369" "0" "30" "5" "82837910" "82837910" "subst" "0.000195435" "02330" "VCAN_000180" "g.82837910G>A" "" "" "" "VCAN(NM_004385.5):c.9088G>A (p.E3030K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924385" "0" "30" "5" "82816909" "82816909" "subst" "3.66035E-5" "02330" "VCAN_000097" "g.82816909A>G" "" "" "" "VCAN(NM_004385.4):c.2784A>G (p.V928=), VCAN(NM_004385.5):c.2784A>G (p.V928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924386" "0" "50" "5" "82836067" "82836067" "dup" "0" "02330" "VCAN_000181" "g.82836067dup" "" "" "" "VCAN(NM_004385.5):c.7245dupT (p.T2416Yfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929110" "0" "10" "5" "82835852" "82835852" "subst" "0.00758046" "02329" "VCAN_000182" "g.82835852C>T" "" "" "" "VCAN(NM_004385.5):c.7030C>T (p.P2344S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948586" "0" "30" "5" "82834910" "82834910" "subst" "0.000154922" "02330" "VCAN_000133" "g.82834910G>T" "" "" "" "VCAN(NM_004385.4):c.6088G>T (p.V2030L), VCAN(NM_004385.5):c.6088G>T (p.V2030L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963704" "0" "30" "5" "82815496" "82815496" "subst" "1.22E-5" "02330" "VCAN_000183" "g.82815496A>G" "" "" "" "VCAN(NM_004385.5):c.1371A>G (p.E457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976870" "0" "90" "5" "82832825" "82832825" "subst" "0" "02327" "VCAN_000170" "g.82832825G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976871" "0" "30" "5" "82832913" "82832913" "subst" "0" "01804" "VCAN_000184" "g.82832913T>C" "" "" "" "VCAN(NM_004385.5):c.4091T>C (p.(Val1364Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976872" "0" "30" "5" "82837927" "82837927" "subst" "8.142E-6" "01804" "VCAN_000185" "g.82837927G>A" "" "" "" "VCAN(NM_004385.5):c.9105G>A (p.(Ala3035=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976873" "0" "90" "5" "82838089" "82838089" "subst" "0" "02327" "VCAN_000186" "g.82838089T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000987826" "21" "90" "5" "82817580" "82817580" "subst" "0" "04221" "VCAN_000187" "g.82817580C>A" "" "" "" "" "This variant was confirmed by Sanger sequencing in patient and tested in parents (maternal confirmed). This variant was classified as per ACMG guidelines (Richards et al 2015) and the recently developed ACMG scoring system (Tavtigian et al 2020)." "Germline" "yes" "" "0" "" "" "g.83521761C>A" "" "pathogenic (dominant)" "ACMG" "0000995187" "0" "30" "5" "82785938" "82785938" "subst" "7.79756E-5" "02325" "VCAN_000188" "g.82785938C>T" "" "" "" "VCAN(NM_004385.5):c.92C>T (p.P31L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995188" "0" "30" "5" "82836042" "82836042" "subst" "0" "01804" "VCAN_000189" "g.82836042G>A" "" "" "" "VCAN(NM_004385.4):c.7220G>A (p.(Gly2407Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001008335" "0" "50" "5" "82832826" "82832826" "subst" "0" "00006" "VCAN_000190" "g.82832826G>A" "" "{PMID:Xie 2024:39198981}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.83537007G>A" "" "VUS" "" "0001014146" "0" "30" "5" "82817000" "82817000" "subst" "0.00123362" "02330" "VCAN_000191" "g.82817000A>T" "" "" "" "VCAN(NM_004385.5):c.2875A>T (p.S959C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025140" "0" "30" "5" "82786003" "82786003" "subst" "8.53326E-5" "02325" "VCAN_000192" "g.82786003C>T" "" "" "" "VCAN(NM_004385.5):c.157C>T (p.P53S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025141" "0" "10" "5" "82786272" "82786272" "subst" "0.00410649" "02329" "VCAN_000193" "g.82786272G>A" "" "" "" "VCAN(NM_004385.5):c.426G>A (p.T142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025142" "0" "30" "5" "82789493" "82789493" "subst" "0.00200361" "02329" "VCAN_000066" "g.82789493G>A" "" "" "" "VCAN(NM_004385.4):c.574G>A (p.G192R), VCAN(NM_004385.5):c.574G>A (p.G192R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046042" "0" "30" "5" "82868257" "82868257" "subst" "0.000207412" "02325" "VCAN_000125" "g.82868257A>G" "" "" "" "VCAN(NM_004385.4):c.9758A>G (p.N3253S), VCAN(NM_004385.5):c.9758A>G (p.N3253S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 VCAN ## Count = 248 "{{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}}" "0000128954" "00022572" "90" "4004" "-2585" "9266" "-609" "c.4004-2585_9266-609del" "r.(4004_9265del))" "p.(Arg1336_Gly3089del)" "7i_8i" "0000128955" "00022572" "90" "6525" "0" "9265" "643" "c.6525_9265+643delinsAC" "r.(6525_9265delinsAC)" "p.(Ser2176_Gly3089delinsArg)" "8_8i" "0000132574" "00022572" "90" "4004" "-2" "4004" "-2" "c.4004-2A>G" "r.4004_4042del" "p.Gly1335_Ile1347del" "7i" "0000132575" "00022572" "90" "9265" "1" "9265" "1" "c.9265+1G>A" "r.9245_9265del" "p.Thr3083_Gly3089del" "8i" "0000132576" "00022572" "30" "-648" "0" "-648" "0" "c.-648A>G" "r.(=)" "p.(=)" "_1" "0000246337" "00022572" "10" "2028" "0" "2028" "0" "c.2028A>G" "r.(?)" "p.(Leu676=)" "" "0000246347" "00022572" "10" "1243" "0" "1243" "0" "c.1243A>G" "r.(?)" "p.(Ile415Val)" "" "0000246370" "00022572" "10" "71" "-18" "71" "-18" "c.71-18A>G" "r.(=)" "p.(=)" "" "0000250097" "00022572" "10" "645" "0" "645" "0" "c.645A>G" "r.(?)" "p.(Val215=)" "" "0000250098" "00022572" "10" "4569" "0" "4569" "0" "c.4569A>G" "r.(?)" "p.(Thr1523=)" "" "0000250099" "00022572" "10" "6723" "0" "6723" "0" "c.6723A>G" "r.(?)" "p.(Arg2241=)" "" "0000250149" "00022572" "10" "4547" "0" "4547" "0" "c.4547A>G" "r.(?)" "p.(Lys1516Arg)" "" "0000250153" "00022572" "10" "1045" "0" "1045" "0" "c.1045A>G" "r.(?)" "p.(Lys349Glu)" "" "0000254362" "00022572" "30" "4604" "0" "4604" "0" "c.4604A>G" "r.(?)" "p.(Glu1535Gly)" "" "0000254476" "00022572" "30" "3076" "0" "3076" "0" "c.3076A>G" "r.(?)" "p.(Ile1026Val)" "" "0000255070" "00022572" "30" "8448" "0" "8448" "0" "c.8448A>T" "r.(?)" "p.(Thr2816=)" "" "0000255125" "00022572" "30" "6945" "0" "6945" "0" "c.6945A>G" "r.(?)" "p.(Val2315=)" "" "0000256192" "00022572" "50" "2125" "0" "2125" "0" "c.2125A>G" "r.(?)" "p.(Lys709Glu)" "" "0000256403" "00022572" "50" "170" "0" "170" "0" "c.170A>C" "r.(?)" "p.(Asn57Thr)" "" "0000311225" "00022572" "10" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Ser467Phe)" "" "0000311226" "00022572" "10" "1521" "0" "1521" "0" "c.1521C>T" "r.(?)" "p.(His507=)" "" "0000311227" "00022572" "50" "1931" "0" "1931" "0" "c.1931C>T" "r.(?)" "p.(Pro644Leu)" "" "0000311228" "00022572" "30" "2159" "0" "2159" "0" "c.2159T>C" "r.(?)" "p.(Val720Ala)" "" "0000311229" "00022572" "30" "2180" "0" "2180" "0" "c.2180C>G" "r.(?)" "p.(Ser727Cys)" "" "0000311230" "00022572" "10" "2666" "0" "2666" "0" "c.2666C>T" "r.(?)" "p.(Thr889Ile)" "" "0000311231" "00022572" "10" "4003" "16" "4003" "16" "c.4003+16C>G" "r.(=)" "p.(=)" "" "0000311232" "00022572" "10" "5187" "0" "5187" "0" "c.5187G>A" "r.(?)" "p.(Glu1729=)" "" "0000311233" "00022572" "10" "5425" "0" "5425" "0" "c.5425C>T" "r.(?)" "p.(His1809Tyr)" "" "0000311234" "00022572" "50" "5985" "0" "5985" "0" "c.5985C>A" "r.(?)" "p.(Ser1995Arg)" "" "0000311235" "00022572" "50" "6799" "0" "6799" "0" "c.6799C>T" "r.(?)" "p.(Pro2267Ser)" "" "0000311236" "00022572" "10" "7038" "0" "7038" "0" "c.7038G>T" "r.(?)" "p.(Val2346=)" "" "0000311237" "00022572" "10" "7419" "0" "7419" "0" "c.7419C>T" "r.(?)" "p.(Ser2473=)" "" "0000311238" "00022572" "10" "7551" "0" "7551" "0" "c.7551C>T" "r.(?)" "p.(Asp2517=)" "" "0000311239" "00022572" "50" "7884" "0" "7884" "0" "c.7884C>A" "r.(?)" "p.(Asn2628Lys)" "" "0000311240" "00022572" "30" "7954" "0" "7954" "0" "c.7954G>C" "r.(?)" "p.(Asp2652His)" "" "0000311241" "00022572" "50" "8272" "0" "8272" "0" "c.8272G>C" "r.(?)" "p.(Gly2758Arg)" "" "0000311242" "00022572" "30" "8621" "0" "8621" "0" "c.8621C>T" "r.(?)" "p.(Ala2874Val)" "" "0000311243" "00022572" "30" "8764" "0" "8764" "0" "c.8764G>A" "r.(?)" "p.(Ala2922Thr)" "" "0000311244" "00022572" "50" "9560" "0" "9560" "0" "c.9560G>A" "r.(?)" "p.(Arg3187Gln)" "" "0000312963" "00022572" "10" "1283" "0" "1283" "0" "c.1283G>A" "r.(?)" "p.(Gly428Asp)" "" "0000312964" "00022572" "10" "9882" "0" "9882" "0" "c.9882C>T" "r.(?)" "p.(Val3294=)" "" "0000313614" "00022572" "10" "1283" "0" "1283" "0" "c.1283G>A" "r.(?)" "p.(Gly428Asp)" "" "0000313615" "00022572" "10" "348" "0" "348" "0" "c.348T>C" "r.(?)" "p.(Thr116=)" "" "0000313616" "00022572" "10" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Asp131=)" "" "0000313617" "00022572" "10" "4323" "0" "4323" "0" "c.4323G>A" "r.(?)" "p.(Gln1441=)" "" "0000313618" "00022572" "30" "468" "0" "468" "0" "c.468G>A" "r.(?)" "p.(Ala156=)" "" "0000313619" "00022572" "10" "5477" "0" "5477" "0" "c.5477G>A" "r.(?)" "p.(Arg1826His)" "" "0000313620" "00022572" "10" "5808" "0" "5808" "0" "c.5808T>C" "r.(?)" "p.(Gly1936=)" "" "0000313621" "00022572" "10" "6902" "0" "6902" "0" "c.6902T>A" "r.(?)" "p.(Phe2301Tyr)" "" "0000313622" "00022572" "10" "7419" "0" "7419" "0" "c.7419C>T" "r.(?)" "p.(Ser2473=)" "" "0000313623" "00022572" "10" "8809" "0" "8809" "0" "c.8809G>T" "r.(?)" "p.(Asp2937Tyr)" "" "0000313624" "00022572" "10" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Ser300Leu)" "" "0000313625" "00022572" "10" "9075" "0" "9075" "0" "c.9075G>A" "r.(?)" "p.(Thr3025=)" "" "0000313626" "00022572" "10" "9379" "7" "9379" "7" "c.9379+7T>C" "r.(=)" "p.(=)" "" "0000313627" "00022572" "50" "9499" "0" "9499" "0" "c.9499G>A" "r.(?)" "p.(Glu3167Lys)" "" "0000313628" "00022572" "10" "9882" "0" "9882" "0" "c.9882C>T" "r.(?)" "p.(Val3294=)" "" "0000319503" "00022572" "30" "1281" "0" "1281" "0" "c.1281T>C" "r.(?)" "p.(Thr427=)" "" "0000319504" "00022572" "30" "1395" "0" "1395" "0" "c.1395C>T" "r.(?)" "p.(Gly465=)" "" "0000319505" "00022572" "30" "1571" "0" "1571" "0" "c.1571G>A" "r.(?)" "p.(Arg524Lys)" "" "0000319506" "00022572" "10" "1895" "0" "1895" "0" "c.1895C>T" "r.(?)" "p.(Thr632Met)" "" "0000319507" "00022572" "30" "249" "0" "249" "0" "c.249C>A" "r.(?)" "p.(Val83=)" "" "0000319508" "00022572" "10" "2887" "0" "2887" "0" "c.2887C>T" "r.(?)" "p.(Pro963Ser)" "" "0000319509" "00022572" "30" "3528" "0" "3528" "0" "c.3528G>A" "r.(?)" "p.(Glu1176=)" "" "0000319510" "00022572" "30" "4944" "0" "4944" "0" "c.4944T>A" "r.(?)" "p.(Asp1648Glu)" "" "0000319511" "00022572" "30" "5187" "0" "5187" "0" "c.5187G>A" "r.(?)" "p.(Glu1729=)" "" "0000319512" "00022572" "30" "5526" "0" "5526" "0" "c.5526C>T" "r.(?)" "p.(Ala1842=)" "" "0000319513" "00022572" "30" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Gly192Arg)" "" "0000319514" "00022572" "30" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Ala212Thr)" "" "0000319515" "00022572" "30" "6902" "0" "6902" "0" "c.6902T>G" "r.(?)" "p.(Phe2301Cys)" "" "0000319516" "00022572" "30" "7176" "0" "7176" "0" "c.7176C>T" "r.(?)" "p.(Asn2392=)" "" "0000319517" "00022572" "30" "7283" "0" "7283" "0" "c.7283C>T" "r.(?)" "p.(Pro2428Leu)" "" "0000319518" "00022572" "30" "7419" "0" "7419" "0" "c.7419C>T" "r.(?)" "p.(Ser2473=)" "" "0000319519" "00022572" "30" "7551" "0" "7551" "0" "c.7551C>T" "r.(?)" "p.(Asp2517=)" "" "0000319520" "00022572" "50" "8278" "0" "8278" "0" "c.8278T>C" "r.(?)" "p.(Ser2760Pro)" "" "0000319521" "00022572" "30" "8476" "0" "8476" "0" "c.8476T>C" "r.(?)" "p.(Ser2826Pro)" "" "0000319522" "00022572" "50" "854" "0" "854" "0" "c.854C>T" "r.(?)" "p.(Ala285Val)" "" "0000319523" "00022572" "30" "8919" "0" "8919" "0" "c.8919G>T" "r.(?)" "p.(Gln2973His)" "" "0000319524" "00022572" "30" "9234" "0" "9234" "0" "c.9234G>A" "r.(?)" "p.(Glu3078=)" "" "0000330452" "00022572" "50" "3192" "0" "3192" "0" "c.3192T>A" "r.(?)" "p.(Asp1064Glu)" "" "0000330453" "00022572" "50" "6498" "0" "6498" "0" "c.6498T>A" "r.(?)" "p.(Asp2166Glu)" "" "0000338814" "00022572" "90" "4004" "-5" "4004" "-5" "c.4004-5T>A" "r.spl?" "p.?" "" "0000347005" "00022572" "30" "6767" "0" "6767" "0" "c.6767T>C" "r.(?)" "p.(Leu2256Pro)" "" "0000499711" "00022572" "50" "6727" "0" "6727" "0" "c.6727A>G" "r.(?)" "p.(Thr2243Ala)" "" "0000499712" "00022572" "50" "5812" "0" "5812" "0" "c.5812T>C" "r.(?)" "p.(Phe1938Leu)" "" "0000526189" "00022572" "30" "70" "12" "70" "12" "c.70+12A>G" "r.(=)" "p.(=)" "" "0000526191" "00022572" "50" "237" "0" "237" "0" "c.237A>T" "r.(?)" "p.(Lys79Asn)" "" "0000526192" "00022572" "30" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Gly192Arg)" "" "0000526193" "00022572" "10" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(Tyr296=)" "" "0000526194" "00022572" "50" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Pro348Ser)" "" "0000526195" "00022572" "10" "1043" "-10" "1043" "-10" "c.1043-10A>G" "r.(=)" "p.(=)" "" "0000526196" "00022572" "30" "1127" "0" "1127" "0" "c.1127A>C" "r.(?)" "p.(Asp376Ala)" "" "0000526197" "00022572" "30" "1191" "0" "1191" "0" "c.1191C>T" "r.(?)" "p.(Pro397=)" "" "0000526198" "00022572" "10" "1227" "0" "1227" "0" "c.1227A>G" "r.(?)" "p.(Thr409=)" "" "0000526199" "00022572" "30" "1243" "0" "1243" "0" "c.1243A>G" "r.(?)" "p.(Ile415Val)" "" "0000526200" "00022572" "30" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Ser467Phe)" "" "0000526201" "00022572" "30" "1523" "0" "1523" "0" "c.1523T>A" "r.(?)" "p.(Ile508Asn)" "" "0000526202" "00022572" "30" "1523" "0" "1523" "0" "c.1523T>A" "r.(?)" "p.(Ile508Asn)" "" "0000526203" "00022572" "10" "1523" "0" "1523" "0" "c.1523T>A" "r.(?)" "p.(Ile508Asn)" "" "0000526204" "00022572" "30" "1895" "0" "1895" "0" "c.1895C>A" "r.(?)" "p.(Thr632Lys)" "" "0000526205" "00022572" "30" "2028" "0" "2028" "0" "c.2028A>G" "r.(?)" "p.(Leu676=)" "" "0000526206" "00022572" "10" "2065" "0" "2065" "0" "c.2065A>G" "r.(?)" "p.(Thr689Ala)" "" "0000526207" "00022572" "50" "2101" "0" "2101" "0" "c.2101G>A" "r.(?)" "p.(Asp701Asn)" "" "0000526208" "00022572" "10" "2220" "0" "2220" "0" "c.2220T>C" "r.(?)" "p.(Ser740=)" "" "0000526209" "00022572" "50" "2234" "0" "2234" "0" "c.2234A>C" "r.(?)" "p.(Lys745Thr)" "" "0000526210" "00022572" "10" "2378" "0" "2378" "0" "c.2378T>C" "r.(?)" "p.(Leu793Ser)" "" "0000526211" "00022572" "50" "2656" "0" "2656" "0" "c.2656A>G" "r.(?)" "p.(Thr886Ala)" "" "0000526212" "00022572" "30" "2666" "0" "2666" "0" "c.2666C>T" "r.(?)" "p.(Thr889Ile)" "" "0000526213" "00022572" "30" "2784" "0" "2784" "0" "c.2784A>G" "r.(?)" "p.(Val928=)" "" "0000526214" "00022572" "50" "2891" "0" "2891" "0" "c.2891C>T" "r.(?)" "p.(Thr964Ile)" "" "0000526215" "00022572" "30" "3076" "0" "3076" "0" "c.3076A>G" "r.(?)" "p.(Ile1026Val)" "" "0000526216" "00022572" "10" "3094" "0" "3094" "0" "c.3094C>G" "r.(?)" "p.(Gln1032Glu)" "" "0000526217" "00022572" "30" "3531" "0" "3531" "0" "c.3531T>C" "r.(?)" "p.(Asp1177=)" "" "0000526218" "00022572" "10" "3639" "0" "3639" "0" "c.3639A>G" "r.(?)" "p.(Ser1213=)" "" "0000526219" "00022572" "50" "3959" "0" "3959" "0" "c.3959C>T" "r.(?)" "p.(Pro1320Leu)" "" "0000526220" "00022572" "90" "4004" "-5" "4004" "-5" "c.4004-5T>C" "r.spl?" "p.?" "" "0000526221" "00022572" "30" "4218" "0" "4218" "0" "c.4218A>G" "r.(?)" "p.(Pro1406=)" "" "0000526222" "00022572" "50" "4466" "0" "4466" "0" "c.4466C>T" "r.(?)" "p.(Thr1489Ile)" "" "0000526223" "00022572" "30" "4552" "0" "4552" "0" "c.4552G>T" "r.(?)" "p.(Gly1518Trp)" "" "0000526224" "00022572" "30" "4599" "0" "4599" "0" "c.4599A>T" "r.(?)" "p.(Ala1533=)" "" "0000526225" "00022572" "30" "4604" "0" "4604" "0" "c.4604A>G" "r.(?)" "p.(Glu1535Gly)" "" "0000526226" "00022572" "10" "4762" "0" "4762" "0" "c.4762C>A" "r.(?)" "p.(Pro1588Thr)" "" "0000526227" "00022572" "10" "5574" "0" "5574" "0" "c.5574T>C" "r.(?)" "p.(Tyr1858=)" "" "0000526228" "00022572" "50" "5615" "0" "5615" "0" "c.5615C>T" "r.(?)" "p.(Pro1872Leu)" "" "0000526229" "00022572" "30" "6482" "0" "6482" "0" "c.6482A>G" "r.(?)" "p.(Lys2161Arg)" "" "0000526230" "00022572" "30" "6767" "0" "6767" "0" "c.6767T>C" "r.(?)" "p.(Leu2256Pro)" "" "0000526231" "00022572" "50" "6767" "0" "6767" "0" "c.6767T>C" "r.(?)" "p.(Leu2256Pro)" "" "0000526232" "00022572" "30" "6902" "0" "6902" "0" "c.6902T>G" "r.(?)" "p.(Phe2301Cys)" "" "0000526233" "00022572" "50" "7000" "0" "7000" "0" "c.7000G>T" "r.(?)" "p.(Glu2334Ter)" "" "0000526234" "00022572" "30" "7177" "0" "7177" "0" "c.7177G>A" "r.(?)" "p.(Glu2393Lys)" "" "0000526235" "00022572" "30" "7379" "0" "7379" "0" "c.7379T>C" "r.(?)" "p.(Val2460Ala)" "" "0000526236" "00022572" "10" "7581" "0" "7581" "0" "c.7581C>T" "r.(?)" "p.(Phe2527=)" "" "0000526237" "00022572" "30" "7581" "0" "7581" "0" "c.7581C>T" "r.(?)" "p.(Phe2527=)" "" "0000526238" "00022572" "50" "7715" "0" "7715" "0" "c.7715C>T" "r.(?)" "p.(Ser2572Leu)" "" "0000526239" "00022572" "50" "7753" "0" "7753" "0" "c.7753C>A" "r.(?)" "p.(Pro2585Thr)" "" "0000526240" "00022572" "30" "7868" "0" "7868" "0" "c.7868A>G" "r.(?)" "p.(Tyr2623Cys)" "" "0000526241" "00022572" "30" "8012" "0" "8012" "0" "c.8012C>A" "r.(?)" "p.(Thr2671Lys)" "" "0000526242" "00022572" "50" "8067" "0" "8067" "0" "c.8067G>A" "r.(?)" "p.(Thr2689=)" "" "0000526243" "00022572" "10" "8538" "0" "8538" "0" "c.8538C>T" "r.(?)" "p.(Pro2846=)" "" "0000526245" "00022572" "10" "9234" "0" "9234" "0" "c.9234G>A" "r.(?)" "p.(Glu3078=)" "" "0000526246" "00022572" "10" "9234" "0" "9234" "0" "c.9234G>A" "r.(?)" "p.(Glu3078=)" "" "0000526247" "00022572" "30" "9291" "0" "9291" "0" "c.9291G>A" "r.(?)" "p.(Pro3097=)" "" "0000526248" "00022572" "50" "9686" "0" "9686" "0" "c.9686A>G" "r.(?)" "p.(Asn3229Ser)" "" "0000526249" "00022572" "30" "9758" "0" "9758" "0" "c.9758A>G" "r.(?)" "p.(Asn3253Ser)" "" "0000526250" "00022572" "50" "9758" "0" "9758" "0" "c.9758A>G" "r.(?)" "p.(Asn3253Ser)" "" "0000609810" "00022572" "30" "749" "-9" "749" "-9" "c.749-9T>C" "r.(=)" "p.(=)" "" "0000609811" "00022572" "30" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Val398Met)" "" "0000609812" "00022572" "10" "1864" "0" "1864" "0" "c.1864T>C" "r.(?)" "p.(Trp622Arg)" "" "0000609813" "00022572" "50" "1931" "0" "1931" "0" "c.1931C>T" "r.(?)" "p.(Pro644Leu)" "" "0000609814" "00022572" "10" "2887" "0" "2887" "0" "c.2887C>T" "r.(?)" "p.(Pro963Ser)" "" "0000609815" "00022572" "30" "3188" "0" "3188" "0" "c.3188T>C" "r.(?)" "p.(Leu1063Pro)" "" "0000609816" "00022572" "10" "3201" "0" "3201" "0" "c.3201G>A" "r.(?)" "p.(Glu1067=)" "" "0000609817" "00022572" "50" "4007" "0" "4007" "0" "c.4007G>A" "r.(?)" "p.(Arg1336Gln)" "" "0000609818" "00022572" "30" "4394" "0" "4394" "0" "c.4394T>C" "r.(?)" "p.(Val1465Ala)" "" "0000609819" "00022572" "30" "6088" "0" "6088" "0" "c.6088G>T" "r.(?)" "p.(Val2030Leu)" "" "0000609820" "00022572" "30" "7493" "0" "7493" "0" "c.7493G>T" "r.(?)" "p.(Ser2498Ile)" "" "0000609821" "00022572" "50" "9301" "0" "9301" "0" "c.9301G>A" "r.(?)" "p.(Gly3101Arg)" "" "0000621596" "00022572" "30" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Gly192Arg)" "" "0000621597" "00022572" "30" "6765" "0" "6765" "0" "c.6765A>G" "r.(?)" "p.(Gly2255=)" "" "0000632000" "00022572" "90" "5119" "0" "5119" "0" "c.5119del" "r.(?)" "p.(Ser1707Valfs*44)" "" "0000651775" "00022572" "10" "1045" "0" "1045" "0" "c.1045A>G" "r.(?)" "p.(Lys349Glu)" "" "0000651776" "00022572" "30" "10222" "0" "10222" "0" "c.*31A>G" "r.(=)" "p.(=)" "" "0000655420" "00022572" "30" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Asp174=)" "" "0000655421" "00022572" "10" "1895" "0" "1895" "0" "c.1895C>T" "r.(?)" "p.(Thr632Met)" "" "0000655423" "00022572" "30" "9360" "0" "9360" "0" "c.9360C>T" "r.(?)" "p.(Ser3120=)" "" "0000669860" "00022572" "10" "1045" "0" "1045" "0" "c.1045A>G" "r.(?)" "p.(Lys349Glu)" "" "0000677555" "00022572" "30" "2895" "0" "2895" "0" "c.2895T>G" "r.(?)" "p.(Thr965=)" "" "0000677556" "00022572" "30" "6687" "0" "6687" "0" "c.6687G>A" "r.(?)" "p.(Lys2229=)" "" "0000677557" "00022572" "50" "7868" "0" "7868" "0" "c.7868A>G" "r.(?)" "p.(Tyr2623Cys)" "" "0000677558" "00022572" "30" "8892" "0" "8892" "0" "c.8892T>A" "r.(?)" "p.(Asp2964Glu)" "" "0000689556" "00022572" "30" "1251" "0" "1251" "0" "c.1251T>C" "r.(?)" "p.(Asp417=)" "" "0000689557" "00022572" "50" "2338" "0" "2338" "0" "c.2338G>T" "r.(?)" "p.(Asp780Tyr)" "" "0000720514" "00022572" "50" "4376" "0" "4376" "0" "c.4376C>T" "r.(?)" "p.(Thr1459Met)" "" "0000720515" "00022572" "30" "6538" "0" "6538" "0" "c.6538A>G" "r.(?)" "p.(Met2180Val)" "" "0000720516" "00022572" "50" "8919" "0" "8919" "0" "c.8919G>T" "r.(?)" "p.(Gln2973His)" "" "0000720517" "00022572" "30" "9025" "0" "9025" "0" "c.9025G>A" "r.(?)" "p.(Glu3009Lys)" "" "0000720518" "00022572" "30" "9366" "0" "9366" "0" "c.9366C>T" "r.(?)" "p.(Asp3122=)" "" "0000736857" "00022572" "50" "4183" "0" "4185" "0" "c.4183_4185del" "r.(?)" "p.(Glu1395del)" "" "0000759965" "00022572" "50" "1895" "0" "1895" "0" "c.1895C>T" "r.(?)" "p.(Thr632Met)" "" "0000760005" "00022572" "50" "2234" "0" "2234" "0" "c.2234A>C" "r.(?)" "p.(Lys745Thr)" "" "0000784605" "00022572" "50" "329" "0" "329" "0" "c.329T>G" "r.(?)" "p.(Val110Gly)" "" "0000784625" "00022572" "50" "10064" "0" "10064" "0" "c.10064C>T" "r.(?)" "p.(Pro3355Leu)" "" "0000788333" "00022572" "50" "7136" "0" "7136" "0" "c.7136A>T" "r.(?)" "p.(Glu2379Val)" "8" "0000788367" "00022572" "50" "7775" "0" "7775" "0" "c.7775G>A" "r.(?)" "p.(Gly2592Glu)" "8" "0000788375" "00022572" "50" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "p.(Glu702Lys)" "7" "0000788448" "00022572" "50" "7283" "0" "7283" "0" "c.7283C>T" "r.(?)" "p.(Pro2428Leu)" "8" "0000788459" "00022572" "50" "7136" "0" "7136" "0" "c.7136A>T" "r.(?)" "p.(Glu2379Val)" "8" "0000788496" "00022572" "50" "5111" "0" "5111" "0" "c.5111A>G" "r.(?)" "p.(Lys1704Arg)" "8" "0000795949" "00022572" "70" "7870" "0" "7870" "0" "c.7870G>A" "r.(?)" "p.(Glu2624Lys)" "8" "0000795951" "00022572" "70" "4004" "-1" "4004" "-1" "c.4004-1G>T" "r.spl?" "p.?" "7i" "0000802197" "00022572" "30" "3933" "0" "3933" "0" "c.3933G>A" "r.(?)" "p.(Gln1311=)" "" "0000802198" "00022572" "30" "4604" "0" "4604" "0" "c.4604A>G" "r.(?)" "p.(Glu1535Gly)" "" "0000802199" "00022572" "10" "6126" "0" "6126" "0" "c.6126C>T" "r.(?)" "p.(Asp2042=)" "" "0000802200" "00022572" "30" "8621" "0" "8621" "0" "c.8621C>T" "r.(?)" "p.(Ala2874Val)" "" "0000802201" "00022572" "30" "9960" "0" "9960" "0" "c.9960G>C" "r.(?)" "p.(Leu3320=)" "" "0000819995" "00022572" "70" "4004" "-2" "4004" "-2" "c.4004-2A>C" "r.spl" "p.(?)" "" "0000850973" "00022572" "50" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Ala20Thr)" "" "0000850974" "00022572" "50" "3749" "0" "3749" "0" "c.3749T>G" "r.(?)" "p.(Ile1250Ser)" "" "0000850975" "00022572" "30" "6767" "0" "6767" "0" "c.6767T>C" "r.(?)" "p.(Leu2256Pro)" "" "0000850976" "00022572" "30" "7716" "0" "7716" "0" "c.7716G>A" "r.(?)" "p.(Ser2572=)" "" "0000850977" "00022572" "30" "9560" "0" "9560" "0" "c.9560G>A" "r.(?)" "p.(Arg3187Gln)" "" "0000860014" "00022572" "10" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Leu255Phe)" "" "0000860015" "00022572" "30" "1571" "0" "1571" "0" "c.1571G>C" "r.(?)" "p.(Arg524Thr)" "" "0000860016" "00022572" "30" "1831" "0" "1831" "0" "c.1831A>G" "r.(?)" "p.(Met611Val)" "" "0000860017" "00022572" "10" "2887" "0" "2887" "0" "c.2887C>T" "r.(?)" "p.(Pro963Ser)" "" "0000860018" "00022572" "50" "3205" "0" "3205" "0" "c.3205G>A" "r.(?)" "p.(Asp1069Asn)" "" "0000873467" "00022572" "70" "7870" "0" "7870" "0" "c.7870G>A" "r.(?)" "p.(Glu2624Lys)" "" "0000878523" "00022572" "90" "4004" "-5" "4004" "-5" "c.4004-5T>C" "r.[=,1043_4003del,4004_9265del]" "p.[=,Pro348_Gly1335delinsArg,Arg1336_Gly3089del]" "7i" "0000878524" "00022572" "90" "4004" "-5" "4004" "-5" "c.4004-5T>C" "r.[=,1043_4003del,4004_9265del]" "p.[=,Pro348_Gly1335delinsArg,Arg1336_Gly3089del]" "7i" "0000878525" "00022572" "90" "4004" "-5" "4004" "-5" "c.4004-5T>A" "r.[=,4004_4042del,1043_4003del,4004_9265del]" "p.[=,Gly1335_Ile1347del,Pro348_Gly1335delinsArg,Arg1336_Gly3089del]" "7i" "0000878526" "00022572" "90" "4004" "-5" "4004" "-5" "c.4004-5T>C" "r.[=,1043_4003del,4004_9265del]" "p.[=,Pro348_Gly1335delinsArg,Arg1336_Gly3089del]" "7i" "0000878527" "00022572" "90" "4004" "-5" "4004" "-5" "c.4004-5T>C" "r.[=,1043_4003del,4004_9265del]" "p.[=,Pro348_Gly1335delinsArg,Arg1336_Gly3089del]" "7i" "0000878528" "00022572" "90" "4004" "-5" "4004" "-5" "c.4004-5T>C" "r.[=,1043_4003del,4004_9265del]" "p.[=,Pro348_Gly1335delinsArg,Arg1336_Gly3089del]" "7i" "0000878529" "00022572" "90" "4004" "-1" "4004" "-1" "c.4004-1G>A" "r.[4004_4042del,1043_4003del,4004_9265del]" "p.[Gly1335_Ile1347del,Pro348_Gly1335delinsArg,Arg1336_Gly3089del]" "7i" "0000878530" "00022572" "90" "4004" "-2" "4004" "-2" "c.4004-2A>T" "r.[4004_4042del,4004_9265del]" "p.[Gly1335_Ile1347del,,Arg1336_Gly3089del]" "7i" "0000878531" "00022572" "90" "4004" "-1" "4004" "-1" "c.4004-1G>C" "r.[1043_4003del,4004_9265del]" "p.[Pro348_Gly1335delinsArg,Arg1336_Gly3089del]" "7i" "0000878532" "00022572" "90" "9265" "2" "9265" "2" "c.9265+2T>A" "r.[4004_9265del,1043_9265del]" "p.[Arg1336_Gly3089del,Pro348_Gly3089delinsArg]" "8i" "0000886923" "00022572" "90" "4004" "-5" "4004" "-5" "c.4004-5T>C" "r.spl?" "p.?" "" "0000886924" "00022572" "10" "5155" "0" "5155" "0" "c.5155A>T" "r.(?)" "p.(Thr1719Ser)" "" "0000886925" "00022572" "10" "5576" "0" "5576" "0" "c.5576C>A" "r.(?)" "p.(Ala1859Glu)" "" "0000886926" "00022572" "10" "6123" "0" "6123" "0" "c.6123C>T" "r.(?)" "p.(Ile2041=)" "" "0000886927" "00022572" "10" "6237" "0" "6237" "0" "c.6237G>A" "r.(?)" "p.(Lys2079=)" "" "0000902100" "00022572" "70" "9265" "1" "9265" "1" "c.9265+1G>T" "r.spl" "p.?" "" "0000902101" "00022572" "70" "9265" "1" "9265" "1" "c.9265+1G>T" "r.spl" "p.?" "" "0000902102" "00022572" "70" "9265" "1" "9265" "1" "c.9265+1G>T" "r.spl" "p.?" "" "0000902103" "00022572" "70" "9265" "1" "9265" "1" "c.9265+1G>T" "r.spl" "p.?" "" "0000902104" "00022572" "70" "9265" "1" "9265" "1" "c.9265+1G>T" "r.spl" "p.?" "" "0000902105" "00022572" "70" "9265" "1" "9265" "1" "c.9265+1G>T" "r.spl" "p.?" "" "0000912367" "00022572" "30" "927" "0" "927" "0" "c.927T>C" "r.(?)" "p.(Thr309=)" "" "0000912368" "00022572" "30" "9025" "0" "9025" "0" "c.9025G>A" "r.(?)" "p.(Glu3009Lys)" "" "0000912369" "00022572" "30" "9088" "0" "9088" "0" "c.9088G>A" "r.(?)" "p.(Glu3030Lys)" "" "0000924385" "00022572" "30" "2784" "0" "2784" "0" "c.2784A>G" "r.(?)" "p.(Val928=)" "" "0000924386" "00022572" "50" "7245" "0" "7245" "0" "c.7245dup" "r.(?)" "p.(Thr2416Tyrfs*8)" "" "0000929110" "00022572" "10" "7030" "0" "7030" "0" "c.7030C>T" "r.(?)" "p.(Pro2344Ser)" "" "0000948586" "00022572" "30" "6088" "0" "6088" "0" "c.6088G>T" "r.(?)" "p.(Val2030Leu)" "" "0000963704" "00022572" "30" "1371" "0" "1371" "0" "c.1371A>G" "r.(?)" "p.(=)" "" "0000976870" "00022572" "90" "4004" "-1" "4004" "-1" "c.4004-1G>A" "r.spl?" "p.?" "" "0000976871" "00022572" "30" "4091" "0" "4091" "0" "c.4091T>C" "r.(?)" "p.(Val1364Ala)" "" "0000976872" "00022572" "30" "9105" "0" "9105" "0" "c.9105G>A" "r.(?)" "p.(=)" "" "0000976873" "00022572" "90" "9265" "2" "9265" "2" "c.9265+2T>C" "r.spl?" "p.?" "" "0000987826" "00022572" "90" "3455" "0" "3455" "0" "c.3455C>A" "r.(?)" "p.(Ser1152*)" "7" "0000995187" "00022572" "30" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "" "0000995188" "00022572" "30" "7220" "0" "7220" "0" "c.7220G>A" "r.(?)" "p.(Gly2407Asp)" "" "0001008335" "00022572" "50" "4004" "0" "4004" "0" "c.4004G>A" "r.(?)" "p.(Gly1335Asp)" "" "0001014146" "00022572" "30" "2875" "0" "2875" "0" "c.2875A>T" "r.(?)" "p.(Ser959Cys)" "" "0001025140" "00022572" "30" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Pro53Ser)" "" "0001025141" "00022572" "10" "426" "0" "426" "0" "c.426G>A" "r.(?)" "p.(=)" "" "0001025142" "00022572" "30" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Gly192Arg)" "" "0001046042" "00022572" "30" "9758" "0" "9758" "0" "c.9758A>G" "r.(?)" "p.(Asn3253Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{variantid}}" "0000080077" "0000128954" "0000080078" "0000128955" "0000081872" "0000132574" "0000081873" "0000132575" "0000081873" "0000132576" "0000145017" "0000788333" "0000246878" "0000499711" "0000246878" "0000499712" "0000277233" "0000632000" "0000295086" "0000651775" "0000295087" "0000651776" "0000306172" "0000669860" "0000337227" "0000736857" "0000360183" "0000759965" "0000360194" "0000760005" "0000373909" "0000784625" "0000373917" "0000784605" "0000376607" "0000788367" "0000376609" "0000788375" "0000376622" "0000788448" "0000376624" "0000788459" "0000376629" "0000788496" "0000382233" "0000795949" "0000382235" "0000795951" "0000390650" "0000819995" "0000415633" "0000873467" "0000418691" "0000878523" "0000418692" "0000878524" "0000418693" "0000878525" "0000418694" "0000878526" "0000418695" "0000878527" "0000418696" "0000878528" "0000418697" "0000878529" "0000418698" "0000878530" "0000418699" "0000878531" "0000418700" "0000878532" "0000425373" "0000902100" "0000425374" "0000902101" "0000425375" "0000902102" "0000425376" "0000902103" "0000425377" "0000902104" "0000425378" "0000902105" "0000453265" "0000987826" "0000456166" "0001008335"