### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RIMS1) # 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}}" "RIMS1" "regulating synaptic membrane exocytosis 1" "6" "q12-q13" "unknown" "NG_016209.1" "UD_134408316790" "" "http://www.LOVD.nl/RIMS1" "" "1" "17282" "22999" "606629" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/RIMS1_NM_014989.5_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-02-13 00:00:00" "00006" "2015-02-28 12:53:51" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024019" "RIMS1" "transcript variant 1" "001" "NM_014989.5" "" "NP_055804.2" "" "" "" "-321" "7508" "5079" "72596406" "73112845" "00006" "2015-02-27 17:44:45" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "02463" "CORD7" "dystrophy, cone-rod, type 7 (CORD-7)" "" "603649" "" "" "" "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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RIMS1" "02463" ## Individuals ## Do not remove or alter this header ## ## Count = 54 "{{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}}" "00033114" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033134" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00050164" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00173872" "" "" "" "1" "" "02449" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP191" "00294178" "" "" "" "21" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294179" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331994" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "M" "" "Germany" "" "0" "" "" "" "Pat132" "00333365" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat7" "00333429" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD6–02" "00333486" "" "" "" "1" "" "00006" "{PMID:Li 2017:28677725}" "" "F" "" "China" "" "0" "" "" "" "patient" "00358951" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71927" "00363351" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM483" "00373509" "" "" "" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "" "" "China" "" "0" "" "" "" "RH11" "00375420" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#012" "00375422" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#015" "00375431" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#025" "00376735" "" "" "" "1" "" "00000" "{PMID:Robson 2008:17962389}" "" "M" "" "" "" "0" "" "" "" "" "00376738" "" "" "" "1" "" "00000" "{PMID:Robson 2008:17962389}" "" "F" "" "" "" "0" "" "" "" "" "00376739" "" "" "" "1" "" "00000" "{PMID:Robson 2008:17962389}" "" "F" "" "" "" "0" "" "" "" "" "00376740" "" "" "" "1" "" "00000" "{PMID:Robson 2008:17962389}" "" "M" "" "" "" "0" "" "" "" "" "00376741" "" "" "" "1" "" "00000" "{PMID:Robson 2008:17962389}" "" "M" "" "" "" "0" "" "" "" "" "00376742" "" "" "" "1" "" "00000" "{PMID:Robson 2008:17962389}" "" "F" "" "" "" "0" "" "" "" "" "00381814" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "" "" "" "0" "" "" "" "" "00381815" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "" "" "" "0" "" "" "" "" "00386176" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-132, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-289" "00386195" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-311" "00386230" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-419" "00386262" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-38, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-104" "00387391" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32100970}" "" "F" "" "China" "" "0" "" "" "" "11" "00388036" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27788217}" "" "M" "" "United States" "" "0" "" "" "" "8" "00389309" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 214, unclassified / mixed, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "593" "00392333" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "F" "" "China" "" "0" "" "" "" "191323" "00393347" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-045" "00393348" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-064" "00393349" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-073" "00393758" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00395879" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F301" "00413804" "" "" "" "1" "" "00000" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "British" "II:2" "00413805" "" "" "" "1" "" "00000" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "British" "II:5" "00413806" "" "" "" "1" "" "00000" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "British" "II:7" "00413807" "" "" "" "1" "" "00000" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "British" "III:1" "00413808" "" "" "" "1" "" "00000" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "British" "III:2" "00413809" "" "" "" "1" "" "00000" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "British" "III:6" "00413810" "" "" "" "1" "" "00000" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "British" "IV:2" "00413811" "" "" "" "1" "" "00000" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "British" "IV:3" "00413812" "" "" "" "1" "" "00000" "{PMID:Warwick-2017:27176872}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00420584" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F301" "00426945" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 49, individual 58" "F" "" "" "" "0" "" "" "" "49_58" "00447094" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "M" "" "Germany" "" "0" "" "" "" "CRD-787" "00447318" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1253" "00447626" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-379" "00447661" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "M" "" "Germany" "" "0" "" "" "" "CD-543" "00447664" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "CD-584" "00447668" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-635" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 54 "{{individualid}}" "{{diseaseid}}" "00033114" "04214" "00033134" "04214" "00050164" "00198" "00173872" "04214" "00294178" "00198" "00294179" "00198" "00331994" "04214" "00333365" "04214" "00333429" "04214" "00333486" "00198" "00358951" "04214" "00363351" "04214" "00373509" "04214" "00375420" "04214" "00375422" "04214" "00375431" "04214" "00376735" "04214" "00376738" "04214" "00376739" "04214" "00376740" "04214" "00376741" "04214" "00376742" "04214" "00381814" "04214" "00381815" "04214" "00386176" "04214" "00386195" "04214" "00386230" "04214" "00386262" "04214" "00387391" "04214" "00388036" "04214" "00389309" "04214" "00392333" "04214" "00393347" "04214" "00393348" "04214" "00393349" "04214" "00393758" "04214" "00395879" "04214" "00413804" "04214" "00413805" "04214" "00413806" "04214" "00413807" "04214" "00413808" "04214" "00413809" "04214" "00413810" "04214" "00413811" "04214" "00413812" "04214" "00420584" "04214" "00426945" "04214" "00447094" "00198" "00447318" "00198" "00447626" "00198" "00447661" "00198" "00447664" "00198" "00447668" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02463, 04214 ## Count = 53 "{{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}}" "0000026543" "04214" "00033114" "00229" "Unknown" "35y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026563" "04214" "00033134" "00229" "Unknown" "0d" "retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; mild intellectual disability" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000036776" "00198" "00050164" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000138725" "04214" "00173872" "02449" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "RP-38" "retinitis pigmentosa" "" "0000250185" "04214" "00331994" "00000" "Familial, autosomal dominant" "56y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "48y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000251552" "04214" "00333365" "00000" "Unknown" "59y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251616" "04214" "00333429" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP" "" "0000251671" "00198" "00333486" "00006" "Unknown" "28y" "see paper; ..." "" "" "" "" "" "" "" "" "" "bilateral macular coloboma" "" "0000254249" "04214" "00358951" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000258716" "04214" "00363351" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000268785" "04214" "00373509" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, macula degeneration" "" "0000270634" "04214" "00375420" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270636" "04214" "00375422" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270645" "04214" "00375431" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271946" "04214" "00376735" "00000" "Familial, autosomal dominant" "52y" "Areas of macular atrophy and pigmentation BE. Attenuated of atrophy BE vessels and peripheral areas" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000271949" "04214" "00376738" "00000" "Familial, autosomal dominant" "82y" "Bilateral macular atrophy and attenuated vessels" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000271950" "04214" "00376739" "00000" "Familial, autosomal dominant" "53y" "Extensive RPE atrophy and patchy pigmentation RE.LE. Attenuated vessels" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000271951" "04214" "00376740" "00000" "Familial, autosomal dominant" "48y" "RE: RPE changes. LE: Well demarcated macular atrophy" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000271952" "04214" "00376741" "00000" "Familial, autosomal dominant" "30y" "Extensive macular RPE atrophy \"\"and abnormal pigmentation LE.RE.surrounded by a ring of high density. Narrow Occasional scattered peripheral bridge of RPE sparing over\"\" bone-spicule pigmentation central macula of RE" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000271953" "04214" "00376742" "00000" "Familial, autosomal dominant" "18y" "Mild bilateral RPE changes Parafoveral ring of high-density AF, BE at maculae" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000275656" "04214" "00381814" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000275657" "04214" "00381815" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000279979" "04214" "00386176" "00000" "Familial, autosomal recessive" "15y" "" "" "12y" "" "" "" "" "" "" "Stargardt Disease" "" "" "0000279998" "04214" "00386195" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280033" "04214" "00386230" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280065" "04214" "00386262" "00000" "Familial, autosomal recessive" "40y" "" "" "0m" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000280954" "04214" "00387391" "00000" "Familial, autosomal recessive" "56y" "posterior subcapsular cataract, peripheral choroidal atrophy, negative family history, BCVA OD/OS: FC/HM, hearing loss" "30y" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000281629" "04214" "00388036" "00000" "Familial, autosomal dominant" "" "Bilateral retinal detachment, cataracts, leukocoria, possible hearing loss, delayed milestones" "1y" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" "" "0000281630" "04214" "00388036" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000282850" "04214" "00389309" "00000" "Familial, autosomal dominant" "57y" "age at genetic diagnosis mentioned" "" "54y" "" "" "" "" "" "" "unclassified / mixed" "" "" "0000285609" "04214" "00392333" "00000" "Familial, autosomal dominant" "51y" "best corrected visual acuity right/left eye: 0.05/0.02, electroretinograhy responses: extinguished" "8y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000286588" "04214" "00393347" "00000" "Isolated (sporadic)" "22y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286589" "04214" "00393348" "00000" "Isolated (sporadic)" "35y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286590" "04214" "00393349" "00000" "Isolated (sporadic)" "54y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286964" "04214" "00393758" "00000" "Isolated (sporadic)" "27y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000289041" "04214" "00395879" "00000" "Unknown" "50y2m" "" "40y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305769" "04214" "00413804" "00000" "Familial, autosomal dominant" "81y" "VA(RE-LE): 6/60–6/60; Bilateral symmetrical macular atrophy and attenuated retinal vessels; Bilateral decreased AF corresponding to atrophy seen on ophthalmoscopy with a surrounding ring ofrelative increased AF; Reduced cone and rod responses ; Absent PERG; Bilateral medium protan, deutan and tritan defects" "20y" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CORD7)" "" "0000305770" "04214" "00413805" "00000" "Familial, autosomal dominant" "68y" "VA(RE-LE): 3/36–3/60; Bilateral macular atrophy; attenuated retinal vessels and peripheral areas ofatrophy (fig 4); Bilateral decreased AF corresponding to atrophy seen on ophthalmoscopy with a surrounding ring ofrelative increased AF; Markedly reduced cone and absent rod responses ; Absent PERG; Bilateral medium protan, deutan and tritan defects" "33y" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CORD7)" "" "0000305771" "04214" "00413806" "00000" "Familial, autosomal dominant" "75y" "VA(RE-LE): 6/9–6/9; Bilateral ‘‘bull’s eye maculopathy’’ ; Concentric rings of increased and decreased AF ; Borderline reduced maximal responses ; Reduced PERG; Bilateral mild protan, deutan and tritan defects" "41y" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CORD7)" "" "0000305772" "04214" "00413807" "00000" "Familial, autosomal dominant" "52y" "VA(RE-LE): 6/36–6/36; Bilateral macular RPE changes with areas of atrophy and pigmentation;attenuated retinal vessels with peripheral areas of atrophy; Bilateral decreased AF centrally with a surrounding ring of relative increased AF; Cone responses more markedly reduced than rod ; Absent PERG; Bilateral mild protan, deutan and tritan defects" "30y" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CORD7)" "" "0000305773" "04214" "00413808" "00000" "Familial, autosomal dominant" "48y" "VA(RE-LE): 6/9–6/9; RE: RPE changes LE: Well definedarea of macular atrophy; RE: Concentric rings of increased and decreased AF LE : Decreased AFcorresponding to atrophy seen on ophthalmoscopy with surrounding ring of relative increased AF; Borderline reduction ; Absent PERG; Bilateral mild protan, deutan and tritan defects" "42y" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CORD7)" "" "0000305774" "04214" "00413809" "00000" "Familial, autosomal dominant" "53y" "VA(RE-LE): 3/60–6/60; Extensive RPE atrophy and areas of pigmentation RE . LE; and attenuated retinal vessels; Bilateral decreased AF centrally with a surrounding ring of relative increased AF; Cone responses more markedly reduced than rod ; Absent PERG; Bilateral medium protan, deutan and tritan defects" "19y" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CORD7)" "" "0000305775" "04214" "00413810" "00000" "Familial, autosomal dominant" "18y" "VA(RE-LE): 6/6–6/6; Bilateral mild macular RPE changes; Bilateral perifoveal rings of relative increased AF; Borderline reduction ; Reduced PERG" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CORD7)" "" "0000305776" "04214" "00413811" "00000" "Familial, autosomal dominant" "31y" "VA(RE-LE): 6/18–3/60; Extensive RPE atrophy and areas of pigmentation LE . RE ; Bilateral decreased AF centrally with a surrounding ring of relative increased; Markedly reduced cone and rod responses ; Absent PERG; Bilateral mild protan, deutan and tritan defects" "14y" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CORD7)" "" "0000305777" "04214" "00413812" "00000" "Unknown" "34y" "VA(RE-LE): 20/23-20/33; bilateral CMO; mid-peripheral ring scotomas; primary photoreceptor abnormality involving both rods and cones" "29y" "" "bilateral floaters and blurred vision" "" "" "" "" "" "" "Retinitis pigmentosa and bilateral cystoid macular oedema" "" "0000311832" "04214" "00420584" "00000" "Familial, autosomal dominant" "50y2m" "" "40y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000318083" "04214" "00426945" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "Bardet-Biedl Syndrome" "" "0000336293" "00198" "00447094" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336517" "00198" "00447318" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336825" "00198" "00447626" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000336860" "00198" "00447661" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336863" "00198" "00447664" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336867" "00198" "00447668" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 54 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000033182" "00033114" "1" "00229" "00229" "2012-02-28 21:09:43" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033202" "00033134" "1" "00229" "00229" "2012-02-04 14:52:54" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000050109" "00050164" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000174762" "00173872" "1" "02449" "02449" "2018-04-11 18:11:48" "" "" "SEQ" "DNA" "" "" "0000295346" "00294178" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295347" "00294179" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000333213" "00331994" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000334590" "00333365" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334654" "00333429" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000334711" "00333486" "1" "00006" "00006" "2021-02-25 16:28:54" "" "" "SEQ-NG" "DNA" "" "175-gene panel" "0000360188" "00358951" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000364579" "00363351" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000374744" "00373509" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000376617" "00375420" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376619" "00375422" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376628" "00375431" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000377941" "00376735" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "?" "DNA" "" "described in Robson 2003" "0000377944" "00376738" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "?" "DNA" "" "described in Robson 2003" "0000377945" "00376739" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "?" "DNA" "" "described in Robson 2003" "0000377946" "00376740" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "?" "DNA" "" "described in Robson 2003" "0000377947" "00376741" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "?" "DNA" "" "described in Robson 2003" "0000377948" "00376742" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "?" "DNA" "" "described in Robson 2003" "0000383030" "00381814" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000383031" "00381815" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000387405" "00386176" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387424" "00386195" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387459" "00386230" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387491" "00386262" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000388617" "00387391" "1" "00000" "03840" "2021-10-29 09:42:54" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000389273" "00388036" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG;arrayCGH;SEQ" "DNA" "blood" "" "0000390552" "00389309" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000393575" "00392333" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000394595" "00393347" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000394596" "00393348" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000394597" "00393349" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000395006" "00393758" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000397118" "00395879" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000415084" "00413804" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000415085" "00413805" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000415086" "00413806" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000415087" "00413807" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000415088" "00413808" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000415089" "00413809" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000415090" "00413810" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000415091" "00413811" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" "0000415092" "00413812" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG" "DNA" "" "" "0000421893" "00420584" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000428265" "00426945" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000448671" "00447094" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448895" "00447318" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449203" "00447626" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449238" "00447661" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449241" "00447664" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449245" "00447668" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{geneid}}" "0000033182" "ELOVL4" "0000033182" "RIMS1" "0000033202" "CEP290" "0000033202" "CRX" "0000033202" "RIMS1" "0000050109" "RIMS1" "0000174762" "MERTK" "0000333213" "PRPH2" "0000364579" "RIMS1" "0000374744" "ALMS1" "0000377941" "RIMS1" "0000377944" "RIMS1" "0000377945" "RIMS1" "0000377946" "RIMS1" "0000377947" "RIMS1" "0000377948" "RIMS1" "0000383030" "RIMS1" "0000383031" "RIMS1" "0000387405" "ABCA4" "0000387424" "GNAT2" "0000387459" "RIMS1" "0000387491" "AIPL1" "0000389273" "RIMS1" "0000390552" "RIMS1" "0000393575" "RIMS1" "0000394595" "RIMS1" "0000394596" "RIMS1" "0000394597" "RIMS1" "0000395006" "RIMS1" "0000397118" "RIMS1" "0000415084" "RIMS1" "0000415085" "RIMS1" "0000415086" "RIMS1" "0000415087" "RIMS1" "0000415088" "RIMS1" "0000415089" "RIMS1" "0000415090" "RIMS1" "0000415091" "RIMS1" "0000415092" "RIMS1" "0000421893" "RIMS1" "0000428265" "BBS1" ## 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 = 160 "{{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}}" "0000060188" "1" "50" "6" "72962456" "72962456" "subst" "0.00130978" "00229" "RIMS1_000001" "g.72962456T>C" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "no" "" "0" "" "" "g.72252753T>C" "" "VUS" "" "0000060189" "1" "50" "6" "73110390" "73110390" "subst" "0.000138651" "00229" "RIMS1_000002" "g.73110390A>G" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "no" "" "0" "" "" "g.72400688A>G" "" "VUS" "" "0000079061" "3" "90" "6" "73100588" "73100588" "subst" "0" "00006" "RIMS1_000003" "g.73100588G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.72390886G>A" "" "pathogenic" "" "0000246464" "0" "10" "6" "72960774" "72960774" "subst" "0.000390343" "02330" "RIMS1_000016" "g.72960774A>G" "" "" "" "RIMS1(NM_014989.5):c.2523A>G (p.E841=), RIMS1(NM_014989.7):c.2523A>G (p.E841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72251071A>G" "" "benign" "" "0000246465" "0" "10" "6" "73110413" "73110413" "subst" "0.00129313" "02330" "RIMS1_000034" "g.73110413A>G" "" "" "" "RIMS1(NM_014989.7):c.5076A>G (p.S1692=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72400711A>G" "" "benign" "" "0000246512" "0" "30" "6" "72889604" "72889604" "subst" "0.000204367" "02330" "RIMS1_000037" "g.72889604A>G" "" "" "" "RIMS1(NM_014989.7):c.798A>G (p.E266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72179901A>G" "" "likely benign" "" "0000248582" "0" "10" "6" "72889472" "72889472" "subst" "0.672712" "02325" "RIMS1_000009" "g.72889472A>G" "" "" "" "RIMS1(NM_014989.7):c.666A>G (p.L222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72179769A>G" "" "benign" "" "0000248583" "0" "10" "6" "72892257" "72892257" "subst" "0.994907" "02325" "RIMS1_000010" "g.72892257A>G" "" "" "" "RIMS1(NM_014989.7):c.1083A>G (p.L361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72182554A>G" "" "benign" "" "0000254854" "0" "30" "6" "73108778" "73108778" "subst" "0.00049848" "01943" "RIMS1_000032" "g.73108778A>G" "" "" "" "RIMS1(NM_014989.5):c.4842A>G (p.P1614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72399076A>G" "" "likely benign" "" "0000255621" "0" "90" "6" "72974700" "72974700" "del" "0" "01943" "RIMS1_000021" "g.72974700del" "" "" "" "RIMS1(NM_014989.5):c.3139delA (p.T1047Hfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72264997del" "" "pathogenic" "" "0000256420" "0" "50" "6" "73017063" "73017063" "subst" "1.38381E-5" "01943" "RIMS1_000027" "g.73017063A>G" "" "" "" "RIMS1(NM_014989.5):c.3953A>G (p.Q1318R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72307360A>G" "" "VUS" "" "0000256449" "0" "50" "6" "72960085" "72960085" "subst" "0.000586013" "01943" "RIMS1_000015" "g.72960085A>G" "" "" "" "RIMS1(NM_014989.5):c.2294A>G (p.Q765R), RIMS1(NM_014989.7):c.2294A>G (p.Q765R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72250382A>G" "" "VUS" "" "0000294848" "0" "10" "6" "72926879" "72926879" "subst" "0.000148427" "02330" "RIMS1_000042" "g.72926879C>T" "" "" "" "RIMS1(NM_001168410.2):c.-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72217176C>T" "" "benign" "" "0000294849" "0" "10" "6" "72892404" "72892404" "subst" "0.000437054" "02330" "RIMS1_000011" "g.72892404C>G" "" "" "" "RIMS1(NM_014989.7):c.1230C>G (p.G410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72182701C>G" "" "benign" "" "0000294850" "0" "30" "6" "72892479" "72892479" "subst" "7.38334E-6" "02330" "RIMS1_000041" "g.72892479G>C" "" "" "" "RIMS1(NM_014989.7):c.1305G>C (p.E435D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72182776G>C" "" "likely benign" "" "0000294851" "0" "10" "6" "72892633" "72892633" "subst" "0.00323184" "02330" "RIMS1_000012" "g.72892633G>A" "" "" "" "RIMS1(NM_014989.5):c.1459G>A (p.A487T), RIMS1(NM_014989.7):c.1459G>A (p.A487T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72182930G>A" "" "benign" "" "0000294852" "0" "10" "6" "72955509" "72955509" "subst" "0.000289024" "02330" "RIMS1_000014" "g.72955509T>C" "" "" "" "RIMS1(NM_014989.7):c.2082-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72245806T>C" "" "benign" "" "0000294853" "0" "10" "6" "72961043" "72961043" "subst" "0.00130378" "02330" "RIMS1_000017" "g.72961043T>C" "" "" "" "RIMS1(NM_014989.5):c.2670T>C (p.H890=), RIMS1(NM_014989.7):c.2670T>C (p.H890=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72251340T>C" "" "benign" "" "0000294854" "0" "30" "6" "72961053" "72961053" "subst" "3.21955E-5" "02330" "RIMS1_000018" "g.72961053T>G" "" "" "" "RIMS1(NM_014989.7):c.2680T>G (p.S894A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72251350T>G" "" "likely benign" "" "0000294855" "0" "30" "6" "72596754" "72596754" "subst" "0.000233854" "02330" "RIMS1_000004" "g.72596754C>T" "" "" "" "RIMS1(NM_014989.7):c.28C>T (p.P10S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71887051C>T" "" "likely benign" "" "0000294856" "0" "10" "6" "72970414" "72970414" "subst" "0" "02330" "RIMS1_000020" "g.72970414T>A" "" "" "" "RIMS1(NM_014989.7):c.3060T>A (p.L1020=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72260711T>A" "" "benign" "" "0000294857" "0" "10" "6" "72974670" "72974670" "subst" "1.94088E-5" "02330" "RIMS1_000046" "g.72974670C>T" "" "" "" "RIMS1(NM_014989.7):c.3117-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72264967C>T" "" "benign" "" "0000294858" "0" "30" "6" "73000530" "73000530" "subst" "0.000264449" "02330" "RIMS1_000024" "g.73000530G>A" "" "" "" "RIMS1(NM_014989.5):c.3703G>A (p.G1235R), RIMS1(NM_014989.7):c.3703G>A (p.G1235R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72290827G>A" "" "likely benign" "" "0000294859" "0" "30" "6" "73001657" "73001657" "subst" "8.93804E-5" "02330" "RIMS1_000025" "g.73001657C>T" "" "" "" "RIMS1(NM_014989.5):c.3758C>T (p.P1253L), RIMS1(NM_014989.7):c.3758C>T (p.P1253L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72291954C>T" "" "likely benign" "" "0000294860" "0" "10" "6" "73001685" "73001685" "subst" "0.000322306" "02330" "RIMS1_000026" "g.73001685G>A" "" "" "" "RIMS1(NM_014989.5):c.3786G>A (p.S1262=), RIMS1(NM_014989.7):c.3786G>A (p.S1262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72291982G>A" "" "benign" "" "0000294861" "0" "10" "6" "73043363" "73043363" "subst" "0.000175901" "02330" "RIMS1_000029" "g.73043363G>A" "" "" "" "RIMS1(NM_014989.7):c.4191G>A (p.K1397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72333660G>A" "" "benign" "" "0000294862" "0" "10" "6" "73100295" "73100295" "subst" "8.33667E-5" "02330" "RIMS1_000030" "g.73100295G>C" "" "" "" "RIMS1(NM_014989.7):c.4367-5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72390593G>C" "" "benign" "" "0000294863" "0" "10" "6" "72806844" "72806844" "subst" "0.0045078" "02330" "RIMS1_000007" "g.72806844C>T" "" "" "" "RIMS1(NM_014989.7):c.438C>T (p.R146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72097141C>T" "" "benign" "" "0000294864" "0" "10" "6" "73102532" "73102532" "dup" "0" "02330" "RIMS1_000031" "g.73102532dup" "" "" "" "RIMS1(NM_014989.7):c.4618+20dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72392830dup" "" "benign" "" "0000294865" "0" "10" "6" "73110335" "73110335" "subst" "8.13147E-6" "02330" "RIMS1_000033" "g.73110335T>C" "" "" "" "RIMS1(NM_014989.7):c.4998T>C (p.D1666=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72400633T>C" "" "benign" "" "0000294866" "0" "10" "6" "72889454" "72889454" "subst" "0.00191233" "02330" "RIMS1_000008" "g.72889454G>A" "" "" "" "RIMS1(NM_014989.7):c.648G>A (p.S216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72179751G>A" "" "benign" "" "0000294867" "0" "10" "6" "72892089" "72892089" "subst" "0" "02330" "RIMS1_000038" "g.72892089C>G" "" "" "" "RIMS1(NM_014989.7):c.915C>G (p.V305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72182386C>G" "" "benign" "" "0000294868" "0" "10" "6" "72892116" "72892116" "subst" "0.000870372" "02330" "RIMS1_000039" "g.72892116G>A" "" "" "" "RIMS1(NM_014989.7):c.942G>A (p.R314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72182413G>A" "" "benign" "" "0000297669" "0" "10" "6" "72892383" "72892383" "subst" "0.4529" "02325" "RIMS1_000040" "g.72892383G>A" "" "" "" "RIMS1(NM_014989.7):c.1209G>A (p.A403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72182680G>A" "" "benign" "" "0000307095" "0" "30" "6" "72945350" "72945350" "subst" "0.012816" "01943" "RIMS1_000043" "g.72945350G>A" "" "" "" "RIMS1(NM_014989.5):c.1776G>A (p.E592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72235647G>A" "" "likely benign" "" "0000307097" "0" "10" "6" "72961043" "72961043" "subst" "0.00130378" "01943" "RIMS1_000017" "g.72961043T>C" "" "" "" "RIMS1(NM_014989.5):c.2670T>C (p.H890=), RIMS1(NM_014989.7):c.2670T>C (p.H890=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72251340T>C" "" "benign" "" "0000307098" "0" "30" "6" "72962456" "72962456" "subst" "0.00130978" "01943" "RIMS1_000001" "g.72962456T>C" "" "" "" "RIMS1(NM_014989.5):c.2699-8T>C, RIMS1(NM_014989.7):c.2699-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72252753T>C" "" "likely benign" "" "0000307099" "0" "50" "6" "72962473" "72962473" "subst" "0" "01943" "RIMS1_000044" "g.72962473G>A" "" "" "" "RIMS1(NM_014989.5):c.2708G>A (p.R903Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72252770G>A" "" "VUS" "" "0000307100" "0" "50" "6" "72962529" "72962529" "subst" "0" "01943" "RIMS1_000019" "g.72962529C>A" "" "" "" "RIMS1(NM_014989.5):c.2764C>A (p.P922T), RIMS1(NM_014989.7):c.2764C>A (p.P922T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72252826C>A" "" "VUS" "" "0000307101" "0" "10" "6" "72967952" "72967952" "subst" "0.00875491" "01943" "RIMS1_000045" "g.72967952G>A" "" "" "" "RIMS1(NM_014989.5):c.2895G>A (p.P965=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72258249G>A" "" "benign" "" "0000307102" "0" "50" "6" "72975746" "72975746" "subst" "0.0001515" "01943" "RIMS1_000022" "g.72975746G>A" "" "" "" "RIMS1(NM_014989.5):c.3392G>A (p.R1131Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72266043G>A" "" "VUS" "" "0000307103" "0" "30" "6" "72984118" "72984118" "subst" "0.000841333" "01943" "RIMS1_000047" "g.72984118G>A" "" "" "" "RIMS1(NM_014989.5):c.3465G>A (p.A1155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72274415G>A" "" "likely benign" "" "0000307104" "0" "50" "6" "72993762" "72993762" "subst" "0" "01943" "RIMS1_000023" "g.72993762G>T" "" "" "" "RIMS1(NM_014989.5):c.3495G>T (p.K1165N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72284059G>T" "" "VUS" "" "0000307105" "0" "30" "6" "72806808" "72806808" "subst" "2.43835E-5" "01943" "RIMS1_000006" "g.72806808T>C" "" "" "" "RIMS1(NM_014989.5):c.402T>C (p.Y134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72097105T>C" "" "likely benign" "" "0000307106" "0" "30" "6" "73023357" "73023357" "subst" "0.000147759" "01943" "RIMS1_000028" "g.73023357G>A" "" "" "" "RIMS1(NM_014989.5):c.4112G>A (p.R1371H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72313654G>A" "" "likely benign" "" "0000307107" "0" "50" "6" "72596772" "72596772" "subst" "0" "01943" "RIMS1_000005" "g.72596772C>T" "" "" "" "RIMS1(NM_014989.5):c.46C>T (p.P16S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71887069C>T" "" "VUS" "" "0000343609" "0" "50" "6" "72806864" "72806864" "subst" "0.00130549" "02327" "RIMS1_000035" "g.72806864A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72097161A>C" "" "VUS" "" "0000343687" "0" "50" "6" "72892017" "72892017" "subst" "0" "02327" "RIMS1_000036" "g.72892017T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72182314T>A" "" "VUS" "" "0000344960" "0" "50" "6" "72960085" "72960085" "subst" "0.000586013" "02327" "RIMS1_000015" "g.72960085A>G" "" "" "" "RIMS1(NM_014989.5):c.2294A>G (p.Q765R), RIMS1(NM_014989.7):c.2294A>G (p.Q765R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72250382A>G" "" "VUS" "" "0000529440" "0" "10" "6" "72596707" "72596707" "subst" "0.000465276" "02330" "RIMS1_000048" "g.72596707G>C" "" "" "" "RIMS1(NM_014989.7):c.-20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71887004G>C" "" "benign" "" "0000529441" "0" "10" "6" "72596906" "72596906" "subst" "0" "02330" "RIMS1_000049" "g.72596906C>T" "" "" "" "RIMS1(NM_014989.7):c.164+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71887203C>T" "" "benign" "" "0000529442" "0" "50" "6" "72892150" "72892150" "subst" "0" "01943" "RIMS1_000050" "g.72892150G>A" "" "" "" "RIMS1(NM_014989.5):c.976G>A (p.D326N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72182447G>A" "" "VUS" "" "0000529443" "0" "30" "6" "72892274" "72892274" "subst" "0" "01943" "RIMS1_000051" "g.72892274A>C" "" "" "" "RIMS1(NM_014989.5):c.1100A>C (p.K367T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72182571A>C" "" "likely benign" "" "0000529444" "0" "10" "6" "72892356" "72892356" "subst" "0" "02330" "RIMS1_000052" "g.72892356G>C" "" "" "" "RIMS1(NM_014989.7):c.1182G>C (p.A394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72182653G>C" "" "benign" "" "0000529445" "0" "30" "6" "72892633" "72892633" "subst" "0.00323184" "01943" "RIMS1_000012" "g.72892633G>A" "" "" "" "RIMS1(NM_014989.5):c.1459G>A (p.A487T), RIMS1(NM_014989.7):c.1459G>A (p.A487T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72182930G>A" "" "likely benign" "" "0000529446" "0" "50" "6" "72922899" "72922899" "subst" "5.96223E-5" "02330" "RIMS1_000053" "g.72922899C>G" "" "" "" "RIMS1(NM_001168407.2):c.74C>G (p.T25R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72213196C>G" "" "VUS" "" "0000529447" "0" "30" "6" "72947630" "72947630" "dup" "0" "01943" "RIMS1_000054" "g.72947630dup" "" "" "" "RIMS1(NM_014989.5):c.1957+5dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72237927dup" "" "likely benign" "" "0000529448" "0" "30" "6" "72952093" "72952093" "subst" "5.69658E-6" "01943" "RIMS1_000055" "g.72952093A>G" "" "" "" "RIMS1(NM_014989.5):c.2034A>G (p.E678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72242390A>G" "" "likely benign" "" "0000529449" "0" "10" "6" "72960158" "72960158" "subst" "0.000659758" "02330" "RIMS1_000056" "g.72960158T>C" "" "" "" "RIMS1(NM_014989.7):c.2367T>C (p.D789=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72250455T>C" "" "benign" "" "0000529450" "0" "30" "6" "72960774" "72960774" "subst" "0.000390343" "01943" "RIMS1_000016" "g.72960774A>G" "" "" "" "RIMS1(NM_014989.5):c.2523A>G (p.E841=), RIMS1(NM_014989.7):c.2523A>G (p.E841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72251071A>G" "" "likely benign" "" "0000529451" "0" "50" "6" "72961032" "72961032" "subst" "0" "02327" "RIMS1_000057" "g.72961032C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72251329C>T" "" "VUS" "" "0000529452" "0" "10" "6" "72962456" "72962456" "subst" "0.00130978" "02330" "RIMS1_000001" "g.72962456T>C" "" "" "" "RIMS1(NM_014989.5):c.2699-8T>C, RIMS1(NM_014989.7):c.2699-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72252753T>C" "" "benign" "" "0000529453" "0" "10" "6" "72967931" "72967931" "subst" "0.000175244" "02330" "RIMS1_000058" "g.72967931C>T" "" "" "" "RIMS1(NM_014989.7):c.2874C>T (p.R958=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72258228C>T" "" "benign" "" "0000529454" "0" "10" "6" "72968716" "72968716" "subst" "0" "02330" "RIMS1_000059" "g.72968716A>G" "" "" "" "RIMS1(NM_014989.7):c.2955A>G (p.R985=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72259013A>G" "" "benign" "" "0000529455" "0" "50" "6" "72968807" "72968807" "subst" "0" "01943" "RIMS1_000060" "g.72968807C>T" "" "" "" "RIMS1(NM_014989.5):c.3046C>T (p.Q1016*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72259104C>T" "" "VUS" "" "0000529456" "0" "30" "6" "72974732" "72974732" "subst" "0.000433798" "02330" "RIMS1_000061" "g.72974732C>T" "" "" "" "RIMS1(NM_014989.7):c.3171C>T (p.S1057=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72265029C>T" "" "likely benign" "" "0000529457" "0" "90" "6" "72984083" "72984083" "subst" "0.000174767" "01943" "RIMS1_000062" "g.72984083C>T" "" "" "" "RIMS1(NM_014989.5):c.3430C>T (p.R1144*), RIMS1(NM_014989.6):c.3430C>T (p.(Arg1144Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72274380C>T" "" "pathogenic" "" "0000529458" "0" "30" "6" "73001685" "73001685" "subst" "0.000322306" "01943" "RIMS1_000026" "g.73001685G>A" "" "" "" "RIMS1(NM_014989.5):c.3786G>A (p.S1262=), RIMS1(NM_014989.7):c.3786G>A (p.S1262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72291982G>A" "" "likely benign" "" "0000529459" "0" "10" "6" "73001715" "73001715" "subst" "0" "02330" "RIMS1_000063" "g.73001715A>G" "" "" "" "RIMS1(NM_014989.7):c.3816A>G (p.P1272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72292012A>G" "" "benign" "" "0000529460" "0" "30" "6" "73001756" "73001756" "subst" "0.000127577" "01943" "RIMS1_000064" "g.73001756G>A" "" "" "" "RIMS1(NM_014989.5):c.3850+7G>A, RIMS1(NM_014989.7):c.3850+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72292053G>A" "" "likely benign" "" "0000529461" "0" "30" "6" "73017031" "73017031" "subst" "6.87397E-5" "02330" "RIMS1_000065" "g.73017031G>T" "" "" "" "RIMS1(NM_014989.7):c.3921G>T (p.G1307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72307328G>T" "" "likely benign" "" "0000529462" "0" "10" "6" "73043369" "73043369" "subst" "0.000217823" "02330" "RIMS1_000066" "g.73043369C>T" "" "" "" "RIMS1(NM_014989.7):c.4197C>T (p.T1399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72333666C>T" "" "benign" "" "0000529463" "0" "50" "6" "73043440" "73043440" "subst" "8.91671E-6" "02330" "RIMS1_000067" "g.73043440T>G" "" "" "" "RIMS1(NM_014989.7):c.4268T>G (p.V1423G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72333737T>G" "" "VUS" "" "0000529464" "0" "30" "6" "73100322" "73100322" "subst" "0" "01943" "RIMS1_000068" "g.73100322A>C" "" "" "" "RIMS1(NM_014989.5):c.4389A>C (p.K1463N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72390620A>C" "" "likely benign" "" "0000529465" "0" "10" "6" "73100388" "73100388" "subst" "8.13028E-5" "02330" "RIMS1_000069" "g.73100388G>A" "" "" "" "RIMS1(NM_014989.7):c.4455G>A (p.P1485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72390686G>A" "" "benign" "" "0000529466" "0" "30" "6" "73110275" "73110275" "subst" "4.06379E-6" "01943" "RIMS1_000070" "g.73110275C>T" "" "" "" "RIMS1(NM_014989.5):c.4938C>T (p.L1646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72400573C>T" "" "likely benign" "" "0000529467" "0" "50" "6" "73110282" "73110282" "subst" "0.00010972" "01943" "RIMS1_000071" "g.73110282T>A" "" "" "" "RIMS1(NM_014989.5):c.4945T>A (p.S1649T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72400580T>A" "" "VUS" "" "0000610431" "0" "50" "6" "72892268" "72892268" "subst" "0" "02325" "RIMS1_000074" "g.72892268C>T" "" "" "" "RIMS1(NM_014989.7):c.1094C>T (p.P365L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72182565C>T" "" "VUS" "" "0000610432" "0" "30" "6" "72922897" "72922897" "subst" "9.67881E-5" "01943" "RIMS1_000075" "g.72922897A>G" "" "" "" "RIMS1(NM_001350436.1):c.72A>G (p.G24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72213194A>G" "" "likely benign" "" "0000610433" "0" "50" "6" "73017039" "73017039" "subst" "0" "01943" "RIMS1_000076" "g.73017039C>G" "" "" "" "RIMS1(NM_014989.5):c.3929C>G (p.S1310C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72307336C>G" "" "VUS" "" "0000610434" "0" "30" "6" "73017058" "73017058" "subst" "0" "02330" "RIMS1_000077" "g.73017058C>T" "" "" "" "RIMS1(NM_014989.7):c.3948C>T (p.R1316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72307355C>T" "" "likely benign" "" "0000610435" "0" "50" "6" "73043533" "73043533" "subst" "0" "02330" "RIMS1_000078" "g.73043533A>C" "" "" "" "RIMS1(NM_014989.7):c.4361A>C (p.Q1454P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72333830A>C" "" "VUS" "" "0000621746" "0" "30" "6" "72678707" "72678707" "subst" "0" "02330" "RIMS1_000072" "g.72678707G>A" "" "" "" "RIMS1(NM_014989.7):c.186G>A (p.A62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71969004G>A" "" "likely benign" "" "0000621747" "0" "30" "6" "72889514" "72889514" "subst" "3.67227E-5" "02330" "RIMS1_000073" "g.72889514C>T" "" "" "" "RIMS1(NM_014989.7):c.708C>T (p.S236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72179811C>T" "" "likely benign" "" "0000621748" "0" "30" "6" "73001657" "73001657" "subst" "8.93804E-5" "01943" "RIMS1_000025" "g.73001657C>T" "" "" "" "RIMS1(NM_014989.5):c.3758C>T (p.P1253L), RIMS1(NM_014989.7):c.3758C>T (p.P1253L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72291954C>T" "" "likely benign" "" "0000652035" "1" "30" "6" "72984123" "72984123" "subst" "0.0209438" "03575" "RIMS1_000079" "g.72984123C>T" "21/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "21 heterozygous, no homozygous; {DB:CLININrs41265501}" "Germline" "" "rs41265501" "0" "" "" "g.72274420C>T" "" "likely benign" "" "0000652036" "1" "30" "6" "73017051" "73017051" "subst" "0.000155313" "03575" "RIMS1_000080" "g.73017051T>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs201798320}" "Germline" "" "rs201798320" "0" "" "" "g.72307348T>C" "" "likely benign" "" "0000655639" "0" "30" "6" "72892439" "72892439" "subst" "0" "01943" "RIMS1_000081" "g.72892439C>T" "" "" "" "RIMS1(NM_014989.5):c.1265C>T (p.P422L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72182736C>T" "" "likely benign" "" "0000655640" "0" "30" "6" "72975218" "72975218" "subst" "0.00040615" "02330" "RIMS1_000082" "g.72975218T>G" "" "" "" "RIMS1(NM_014989.7):c.3308+12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72265515T>G" "" "likely benign" "" "0000655641" "0" "30" "6" "73001755" "73001755" "subst" "3.33471E-5" "01943" "RIMS1_000083" "g.73001755C>T" "" "" "" "RIMS1(NM_014989.5):c.3850+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72292052C>T" "" "likely benign" "" "0000677849" "0" "50" "6" "72889480" "72889480" "subst" "0" "01943" "RIMS1_000084" "g.72889480C>T" "" "" "" "RIMS1(NM_014989.5):c.674C>T (p.A225V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677850" "0" "50" "6" "72962529" "72962529" "subst" "0" "02330" "RIMS1_000019" "g.72962529C>A" "" "" "" "RIMS1(NM_014989.5):c.2764C>A (p.P922T), RIMS1(NM_014989.7):c.2764C>A (p.P922T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677851" "0" "50" "6" "73023300" "73023300" "subst" "2.4464E-5" "01943" "RIMS1_000085" "g.73023300G>A" "" "" "" "RIMS1(NM_014989.5):c.4055G>A (p.R1352Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689788" "0" "50" "6" "72984094" "72984094" "subst" "0" "01943" "RIMS1_000086" "g.72984094T>A" "" "" "" "RIMS1(NM_014989.5):c.3441T>A (p.S1147R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689789" "0" "50" "6" "73017011" "73017011" "subst" "0" "01943" "RIMS1_000087" "g.73017011C>T" "" "" "" "RIMS1(NM_014989.5):c.3901C>T (p.R1301*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721052" "0" "30" "6" "72993827" "72993831" "del" "0" "01943" "RIMS1_000088" "g.72993827_72993831del" "" "" "" "RIMS1(NM_014989.5):c.3554+6_3554+10delCTTGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721053" "0" "50" "6" "73000530" "73000530" "subst" "0.000264449" "01943" "RIMS1_000024" "g.73000530G>A" "" "" "" "RIMS1(NM_014989.5):c.3703G>A (p.G1235R), RIMS1(NM_014989.7):c.3703G>A (p.G1235R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730797" "1" "50" "6" "73110282" "73110282" "subst" "0.00010972" "00000" "RIMS1_000071" "g.73110282T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "unclear if variant contributes to phenotype" "Germline" "" "" "0" "" "" "g.72400580T>A" "" "VUS" "" "0000732515" "0" "90" "6" "73017069" "73017069" "subst" "0.000166622" "00000" "RIMS1_000091" "g.73017069C>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.72307366C>A" "" "pathogenic" "" "0000732586" "0" "70" "6" "72968788" "72968788" "subst" "0" "00000" "RIMS1_000090" "g.72968788T>C" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.72259085T>C" "" "likely pathogenic" "" "0000732710" "0" "70" "6" "72984134" "72984134" "subst" "0" "00006" "RIMS1_000089" "g.72984134A>G" "" "{PMID:Li 2017:28677725}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000759985" "0" "50" "6" "72967951" "72967951" "subst" "5.70548E-5" "00000" "RIMS1_000092" "g.72967951C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.72258248C>T" "" "VUS" "" "0000765444" "1" "90" "6" "72993757" "72993757" "subst" "0" "00000" "RIMS1_000093" "g.72993757A>T" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "1591A>T (R531*)" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.72284054A>T" "" "pathogenic" "" "0000784164" "0" "50" "6" "72974764" "72974764" "subst" "0.000383851" "00000" "RIMS1_000095" "g.72974764C>A" "1/314" "{PMID:Xu 2015:25999675}" "" "" "" "Germline" "" "" "0" "" "" "g.72265061C>A" "" "VUS" "" "0000785574" "0" "50" "6" "72960169" "72960169" "subst" "0" "00000" "RIMS1_000094" "g.72960169G>A" "" "{PMID:Liu 2015:25611614}" "" "" "" "Germline" "no" "" "0" "" "" "g.72250466G>A" "" "VUS" "" "0000788347" "0" "50" "6" "72892840" "72892840" "subst" "0" "00000" "RIMS1_000096" "g.72892840G>T" "" "{PMID:Katagiri 2014:25268133}" "" "G1666T" "" "Germline" "" "" "0" "" "" "g.72183137G>T" "" "VUS" "" "0000788422" "0" "50" "6" "73043358" "73043358" "subst" "0" "00000" "RIMS1_000098" "g.73043358A>G" "" "{PMID:Katagiri 2014:25268133}" "" "A4186G" "" "Germline" "" "rs200994612" "0" "" "" "g.72333655A>G" "" "VUS" "" "0000788491" "0" "50" "6" "73001695" "73001695" "subst" "0" "00000" "RIMS1_000097" "g.73001695C>T" "" "{PMID:Katagiri 2014:25268133}" "" "C3796T" "" "Germline" "" "" "0" "" "" "g.72291992C>T" "" "VUS" "" "0000790348" "0" "50" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Robson 2008:17962389}" "" "Arg844His" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790349" "0" "50" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Robson 2008:17962389}" "" "Arg844His" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790350" "0" "50" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Robson 2008:17962389}" "" "Arg844His" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790351" "0" "50" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Robson 2008:17962389}" "" "Arg844His" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790352" "0" "50" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Robson 2008:17962389}" "" "Arg844His" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790353" "0" "50" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Robson 2008:17962389}" "" "Arg844His" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000797014" "0" "50" "6" "72806864" "72806864" "subst" "0.00130549" "00000" "RIMS1_000035" "g.72806864A>C" "" "{PMID:Wang-2014:24154662}" "" "c.458A>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000797015" "0" "50" "6" "73102500" "73102500" "subst" "4.07874E-6" "00000" "RIMS1_000099" "g.73102500A>G" "" "{PMID:Wang-2014:24154662}" "" "c.4606A>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000802689" "0" "50" "6" "72892546" "72892546" "subst" "0" "02330" "RIMS1_000100" "g.72892546C>T" "" "" "" "RIMS1(NM_014989.7):c.1372C>T (p.P458S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802690" "0" "50" "6" "72960052" "72960052" "subst" "4.12974E-6" "01943" "RIMS1_000101" "g.72960052A>G" "" "" "" "RIMS1(NM_014989.5):c.2261A>G (p.K754R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802691" "0" "50" "6" "72960997" "72960997" "subst" "1.79237E-5" "01943" "RIMS1_000102" "g.72960997T>C" "" "" "" "RIMS1(NM_014989.5):c.2624T>C (p.L875P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802692" "0" "30" "6" "73000477" "73000477" "subst" "4.06537E-6" "02327" "RIMS1_000103" "g.73000477C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802693" "0" "30" "6" "73001756" "73001756" "subst" "0.000127577" "02330" "RIMS1_000064" "g.73001756G>A" "" "" "" "RIMS1(NM_014989.5):c.3850+7G>A, RIMS1(NM_014989.7):c.3850+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815343" "0" "50" "6" "72892102" "72892102" "subst" "0.000142309" "00000" "RIMS1_000104" "g.72892102C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RIMS1:NM_014989 c.C928T, p.R310C" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.72182399C>T" "" "VUS" "ACMG" "0000815458" "0" "50" "6" "72892221" "72892223" "del" "0" "00000" "RIMS1_000105" "g.72892221_72892223del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RIMS1:NM_014989 c.1047_1049del, p.E349del" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.72182518_72182520del" "" "VUS" "ACMG" "0000815524" "0" "50" "6" "72960799" "72960799" "subst" "0" "00000" "RIMS1_000106" "g.72960799A>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RIMS1:NM_014989 c.2544+4A>G, p.?" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.72251096A>G" "" "VUS" "ACMG" "0000815588" "0" "50" "6" "73000558" "73000558" "subst" "0" "00000" "RIMS1_000107" "g.73000558T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RIMS1:NM_014989 c.T3731C, p.L1244P" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.72290855T>C" "" "VUS" "ACMG" "0000817334" "0" "70" "6" "72264997" "72264997" "del" "0" "00000" "RIMS1_000108" "g.72264997del" "" "{PMID:Sun 2020:32100970}" "" "RIMS1 c.3136delA, p.Lys1046LysfsX32, heterozygous" "error in annotation: c.3136delA causes p.(Thr1047HisfsTer31), and not p.(Lys1046LysfsTer32)" "Unknown" "?" "" "0" "" "" "g.216246592A>C" "" "likely pathogenic" "ACMG" "0000818191" "0" "90" "6" "72984050" "72984050" "del" "8.1479E-6" "00000" "RIMS1_000109" "g.72984050del" "" "{PMID:Wang 2016:27788217}" "" "c.3399-2delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000819897" "1" "70" "6" "72974756" "72974756" "subst" "0" "00000" "RIMS1_000110" "g.72974756G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RIMS1, variant 1: c.3194+1G>A/p.?" "possibly solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.72265053G>A" "" "likely pathogenic" "" "0000824354" "0" "90" "6" "72952094" "72952094" "subst" "0" "00000" "RIMS1_000111" "g.72952094T>A" "" "{PMID:Xiao-2021:33598457}" "" "RIMS1 c.2035T>A, p.(S679T)" "" "Unknown" "yes" "" "0" "" "" "g.72242391T>A" "" "pathogenic" "ACMG" "0000825525" "0" "50" "6" "72596754" "72596754" "subst" "0.000233854" "00000" "RIMS1_000004" "g.72596754C>T" "" "{PMID:Ng 2021:33846575}" "" "RIMS1 c.28C>T, p.P10S" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.71887051C>T" "" "VUS" "" "0000825526" "0" "50" "6" "72596728" "72596728" "subst" "0" "00000" "RIMS1_000112" "g.72596728T>C" "" "{PMID:Ng 2021:33846575}" "" "RIMS1 c.2T>C, p.M1T" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.71887025T>C" "" "VUS" "" "0000825527" "0" "50" "6" "72678749" "72678749" "subst" "0" "00000" "RIMS1_000113" "g.72678749G>T" "" "{PMID:Ng 2021:33846575}" "" "RIMS1 c.228G>T, p.Q76H" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.71969046G>T" "" "VUS" "" "0000826153" "0" "70" "6" "73110408" "73110408" "subst" "2.45321E-5" "00000" "RIMS1_000114" "g.73110408C>T" "" "{PMID:Liu-2020:33090715}" "" "c.5071C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000828864" "0" "50" "6" "72974700" "72974700" "del" "0" "00000" "RIMS1_000021" "g.72974700del" "" "{PMID:Chen 2021:43360855}" "" "RIMS1 c.[3139del];[3139=], V1: c.3139delA, (p.Thr1047HisfsTer31)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.72264997del" "" "VUS" "ACMG" "0000860488" "0" "30" "6" "72892859" "72892859" "subst" "1.06537E-5" "02330" "RIMS1_000115" "g.72892859G>C" "" "" "" "RIMS1(NM_014989.7):c.1678+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860489" "0" "30" "6" "72947570" "72947570" "subst" "3.25484E-5" "01943" "RIMS1_000116" "g.72947570C>T" "" "" "" "RIMS1(NM_014989.5):c.1902C>T (p.F634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860490" "0" "50" "6" "72962534" "72962534" "subst" "0" "01943" "RIMS1_000117" "g.72962534A>G" "" "" "" "RIMS1(NM_014989.5):c.2769A>G (p.P923=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000872829" "0" "90" "6" "72960710" "72960710" "subst" "4.42018E-5" "00000" "RIMS1_000118" "g.72960710G>A" "0/200 control chromosomes" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "Arg844His (G to A)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000872830" "0" "90" "6" "72960710" "72960710" "subst" "4.42018E-5" "00000" "RIMS1_000118" "g.72960710G>A" "0/200 control chromosomes" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "Arg844His (G to A)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000872831" "0" "90" "6" "72960710" "72960710" "subst" "4.42018E-5" "00000" "RIMS1_000118" "g.72960710G>A" "0/200 control chromosomes" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "Arg844His (G to A)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000872832" "0" "90" "6" "72960710" "72960710" "subst" "4.42018E-5" "00000" "RIMS1_000118" "g.72960710G>A" "0/200 control chromosomes" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "Arg844His (G to A)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000872833" "0" "90" "6" "72960710" "72960710" "subst" "4.42018E-5" "00000" "RIMS1_000118" "g.72960710G>A" "0/200 control chromosomes" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "Arg844His (G to A)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000872834" "0" "90" "6" "72960710" "72960710" "subst" "4.42018E-5" "00000" "RIMS1_000118" "g.72960710G>A" "0/200 control chromosomes" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "Arg844His (G to A)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000872835" "0" "90" "6" "72960710" "72960710" "subst" "4.42018E-5" "00000" "RIMS1_000118" "g.72960710G>A" "0/200 control chromosomes" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "Arg844His (G to A)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000872836" "0" "90" "6" "72960710" "72960710" "subst" "4.42018E-5" "00000" "RIMS1_000118" "g.72960710G>A" "0/200 control chromosomes" "{PMID:Michaelides-2005:15665353}, {PMID:Johnson-2003:12659814}" "" "Arg844His (G to A)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000872837" "0" "70" "6" "72960710" "72960710" "subst" "4.42018E-5" "00000" "RIMS1_000118" "g.72960710G>A" "" "{PMID:Warwick-2017:27176872}" "" "c.2459G>A (Arg820His)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000887395" "0" "30" "6" "72892296" "72892296" "subst" "6.93424E-6" "02330" "RIMS1_000119" "g.72892296G>A" "" "" "" "RIMS1(NM_014989.7):c.1122G>A (p.Q374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887396" "0" "30" "6" "72960085" "72960085" "subst" "0.000586013" "02330" "RIMS1_000015" "g.72960085A>G" "" "" "" "RIMS1(NM_014989.5):c.2294A>G (p.Q765R), RIMS1(NM_014989.7):c.2294A>G (p.Q765R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887397" "0" "50" "6" "72968700" "72968700" "subst" "0" "02327" "RIMS1_000120" "g.72968700A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896730" "1" "50" "6" "72974700" "72974700" "del" "0" "00000" "RIMS1_000021" "g.72974700del" "Taiwan Biobank: 0.002321; GnomAD_exome_East: 0.00289; GnomAD_All: 0.000215" "{PMID:Chen 2021:33608557}" "" "RIMS1 c.[3139del];[3139=]; p.(Thr1047HisfsTer31)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.72264997del" "" "VUS" "" "0000905978" "0" "50" "6" "72975101" "72975101" "subst" "0" "00000" "RIMS1_000121" "g.72975101T>C" "" "{PMID:Zhu 2022:35456422}" "" "RIMS1 c.3203T>C, p.(Leu1068Pro)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.72265398T>C" "" "VUS" "ACMG" "0000958505" "1" "50" "6" "72960707" "72960707" "subst" "1.68505E-5" "00006" "RIMS1_000125" "g.72960707A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.72251004A>G" "" "VUS" "ACMG" "0000958662" "0" "50" "6" "72892800" "72892800" "subst" "5.10366E-6" "00006" "RIMS1_000123" "g.72892800G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.72183097G>C" "" "VUS" "ACMG" "0000959005" "1" "50" "6" "72962473" "72962473" "subst" "0" "00006" "RIMS1_000044" "g.72962473G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.72252770G>A" "" "VUS" "ACMG" "0000959008" "0" "50" "6" "72892843" "72892843" "subst" "0" "00006" "RIMS1_000124" "g.72892843A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.72183140A>T" "" "VUS" "ACMG" "0000959012" "0" "50" "6" "72974670" "72974670" "subst" "1.94088E-5" "00006" "RIMS1_000046" "g.72974670C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4; no variant 2nd chromosome" "Germline/De novo (untested)" "" "" "0" "" "" "g.72264967C>T" "" "VUS" "ACMG" "0000959419" "0" "50" "6" "72892280" "72892281" "delins" "0" "00006" "RIMS1_000122" "g.72892280_72892281delinsGA" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.72182577_72182578delinsGA" "" "VUS" "ACMG" "0000977328" "0" "50" "6" "72955528" "72955528" "subst" "8.13954E-6" "02327" "RIMS1_000126" "g.72955528C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035883" "0" "50" "6" "72984083" "72984083" "subst" "0.000174767" "01804" "RIMS1_000062" "g.72984083C>T" "" "" "" "RIMS1(NM_014989.5):c.3430C>T (p.R1144*), RIMS1(NM_014989.6):c.3430C>T (p.(Arg1144Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035884" "0" "30" "6" "73023206" "73023206" "subst" "2.06009E-5" "01804" "RIMS1_000127" "g.73023206T>C" "" "" "" "RIMS1(NM_014989.6):c.3964-3T>C" "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 RIMS1 ## Count = 160 "{{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}}" "0000060188" "00024019" "50" "2699" "-8" "2699" "-8" "c.2699-8T>C" "r.(spl?)" "p.(?)" "15i" "0000060189" "00024019" "50" "5053" "0" "5053" "0" "c.5053A>G" "r.(?)" "p.(Thr1685Ala)" "34" "0000079061" "00024019" "00" "4505" "150" "4505" "150" "c.4505+150G>A" "r.(=)" "p.(=)" "" "0000246464" "00024019" "10" "2523" "0" "2523" "0" "c.2523A>G" "r.(?)" "p.(Glu841=)" "" "0000246465" "00024019" "10" "5076" "0" "5076" "0" "c.5076A>G" "r.(?)" "p.(Ser1692=)" "" "0000246512" "00024019" "30" "798" "0" "798" "0" "c.798A>G" "r.(?)" "p.(Glu266=)" "" "0000248582" "00024019" "10" "666" "0" "666" "0" "c.666A>G" "r.(?)" "p.(Leu222=)" "" "0000248583" "00024019" "10" "1083" "0" "1083" "0" "c.1083A>G" "r.(?)" "p.(Leu361=)" "" "0000254854" "00024019" "30" "4842" "0" "4842" "0" "c.4842A>G" "r.(?)" "p.(Pro1614=)" "" "0000255621" "00024019" "90" "3139" "0" "3139" "0" "c.3139del" "r.(?)" "p.(Thr1047HisfsTer31)" "" "0000256420" "00024019" "50" "3953" "0" "3953" "0" "c.3953A>G" "r.(?)" "p.(Gln1318Arg)" "" "0000256449" "00024019" "50" "2294" "0" "2294" "0" "c.2294A>G" "r.(?)" "p.(Gln765Arg)" "" "0000294848" "00024019" "10" "1679" "-16597" "1679" "-16597" "c.1679-16597C>T" "r.(=)" "p.(=)" "" "0000294849" "00024019" "10" "1230" "0" "1230" "0" "c.1230C>G" "r.(?)" "p.(Gly410=)" "" "0000294850" "00024019" "30" "1305" "0" "1305" "0" "c.1305G>C" "r.(?)" "p.(Glu435Asp)" "" "0000294851" "00024019" "10" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Ala487Thr)" "" "0000294852" "00024019" "10" "2082" "-9" "2082" "-9" "c.2082-9T>C" "r.(=)" "p.(=)" "" "0000294853" "00024019" "10" "2670" "0" "2670" "0" "c.2670T>C" "r.(?)" "p.(His890=)" "" "0000294854" "00024019" "30" "2680" "0" "2680" "0" "c.2680T>G" "r.(?)" "p.(Ser894Ala)" "" "0000294855" "00024019" "30" "28" "0" "28" "0" "c.28C>T" "r.(?)" "p.(Pro10Ser)" "" "0000294856" "00024019" "10" "3060" "0" "3060" "0" "c.3060T>A" "r.(?)" "p.(Leu1020=)" "" "0000294857" "00024019" "10" "3117" "-8" "3117" "-8" "c.3117-8C>T" "r.(=)" "p.(=)" "" "0000294858" "00024019" "30" "3703" "0" "3703" "0" "c.3703G>A" "r.(?)" "p.(Gly1235Arg)" "" "0000294859" "00024019" "30" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Pro1253Leu)" "" "0000294860" "00024019" "10" "3786" "0" "3786" "0" "c.3786G>A" "r.(?)" "p.(Ser1262=)" "" "0000294861" "00024019" "10" "4191" "0" "4191" "0" "c.4191G>A" "r.(?)" "p.(Lys1397=)" "" "0000294862" "00024019" "10" "4367" "-5" "4367" "-5" "c.4367-5G>C" "r.spl?" "p.?" "" "0000294863" "00024019" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Arg146=)" "" "0000294864" "00024019" "10" "4618" "20" "4618" "20" "c.4618+20dup" "r.(=)" "p.(=)" "" "0000294865" "00024019" "10" "4998" "0" "4998" "0" "c.4998T>C" "r.(?)" "p.(Asp1666=)" "" "0000294866" "00024019" "10" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(Ser216=)" "" "0000294867" "00024019" "10" "915" "0" "915" "0" "c.915C>G" "r.(?)" "p.(Val305=)" "" "0000294868" "00024019" "10" "942" "0" "942" "0" "c.942G>A" "r.(?)" "p.(Arg314=)" "" "0000297669" "00024019" "10" "1209" "0" "1209" "0" "c.1209G>A" "r.(?)" "p.(Ala403=)" "" "0000307095" "00024019" "30" "1776" "0" "1776" "0" "c.1776G>A" "r.(?)" "p.(Glu592=)" "" "0000307097" "00024019" "10" "2670" "0" "2670" "0" "c.2670T>C" "r.(?)" "p.(His890=)" "" "0000307098" "00024019" "30" "2699" "-8" "2699" "-8" "c.2699-8T>C" "r.(=)" "p.(=)" "" "0000307099" "00024019" "50" "2708" "0" "2708" "0" "c.2708G>A" "r.(?)" "p.(Arg903Gln)" "" "0000307100" "00024019" "50" "2764" "0" "2764" "0" "c.2764C>A" "r.(?)" "p.(Pro922Thr)" "" "0000307101" "00024019" "10" "2895" "0" "2895" "0" "c.2895G>A" "r.(?)" "p.(Pro965=)" "" "0000307102" "00024019" "50" "3392" "0" "3392" "0" "c.3392G>A" "r.(?)" "p.(Arg1131Gln)" "" "0000307103" "00024019" "30" "3465" "0" "3465" "0" "c.3465G>A" "r.(?)" "p.(Ala1155=)" "" "0000307104" "00024019" "50" "3495" "0" "3495" "0" "c.3495G>T" "r.(?)" "p.(Lys1165Asn)" "" "0000307105" "00024019" "30" "402" "0" "402" "0" "c.402T>C" "r.(?)" "p.(Tyr134=)" "" "0000307106" "00024019" "30" "4112" "0" "4112" "0" "c.4112G>A" "r.(?)" "p.(Arg1371His)" "" "0000307107" "00024019" "50" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Pro16Ser)" "" "0000343609" "00024019" "50" "458" "0" "458" "0" "c.458A>C" "r.(?)" "p.(Asn153Thr)" "" "0000343687" "00024019" "50" "843" "0" "843" "0" "c.843T>A" "r.(?)" "p.(Asn281Lys)" "" "0000344960" "00024019" "50" "2294" "0" "2294" "0" "c.2294A>G" "r.(?)" "p.(Gln765Arg)" "" "0000529440" "00024019" "10" "-20" "0" "-20" "0" "c.-20G>C" "r.(?)" "p.(=)" "" "0000529441" "00024019" "10" "164" "16" "164" "16" "c.164+16C>T" "r.(=)" "p.(=)" "" "0000529442" "00024019" "50" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Asp326Asn)" "" "0000529443" "00024019" "30" "1100" "0" "1100" "0" "c.1100A>C" "r.(?)" "p.(Lys367Thr)" "" "0000529444" "00024019" "10" "1182" "0" "1182" "0" "c.1182G>C" "r.(?)" "p.(Ala394=)" "" "0000529445" "00024019" "30" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Ala487Thr)" "" "0000529446" "00024019" "50" "1679" "-20577" "1679" "-20577" "c.1679-20577C>G" "r.(=)" "p.(=)" "" "0000529447" "00024019" "30" "1957" "5" "1957" "5" "c.1957+5dup" "r.spl?" "p.?" "" "0000529448" "00024019" "30" "2034" "0" "2034" "0" "c.2034A>G" "r.(?)" "p.(Glu678=)" "" "0000529449" "00024019" "10" "2367" "0" "2367" "0" "c.2367T>C" "r.(?)" "p.(Asp789=)" "" "0000529450" "00024019" "30" "2523" "0" "2523" "0" "c.2523A>G" "r.(?)" "p.(Glu841=)" "" "0000529451" "00024019" "50" "2659" "0" "2659" "0" "c.2659C>T" "r.(?)" "p.(Arg887Ter)" "" "0000529452" "00024019" "10" "2699" "-8" "2699" "-8" "c.2699-8T>C" "r.(=)" "p.(=)" "" "0000529453" "00024019" "10" "2874" "0" "2874" "0" "c.2874C>T" "r.(?)" "p.(Arg958=)" "" "0000529454" "00024019" "10" "2955" "0" "2955" "0" "c.2955A>G" "r.(?)" "p.(Arg985=)" "" "0000529455" "00024019" "50" "3046" "0" "3046" "0" "c.3046C>T" "r.(?)" "p.(Gln1016Ter)" "" "0000529456" "00024019" "30" "3171" "0" "3171" "0" "c.3171C>T" "r.(?)" "p.(Ser1057=)" "" "0000529457" "00024019" "90" "3430" "0" "3430" "0" "c.3430C>T" "r.(?)" "p.(Arg1144Ter)" "" "0000529458" "00024019" "30" "3786" "0" "3786" "0" "c.3786G>A" "r.(?)" "p.(Ser1262=)" "" "0000529459" "00024019" "10" "3816" "0" "3816" "0" "c.3816A>G" "r.(?)" "p.(Pro1272=)" "" "0000529460" "00024019" "30" "3850" "7" "3850" "7" "c.3850+7G>A" "r.(=)" "p.(=)" "" "0000529461" "00024019" "30" "3921" "0" "3921" "0" "c.3921G>T" "r.(?)" "p.(Gly1307=)" "" "0000529462" "00024019" "10" "4197" "0" "4197" "0" "c.4197C>T" "r.(?)" "p.(Thr1399=)" "" "0000529463" "00024019" "50" "4268" "0" "4268" "0" "c.4268T>G" "r.(?)" "p.(Val1423Gly)" "" "0000529464" "00024019" "30" "4389" "0" "4389" "0" "c.4389A>C" "r.(?)" "p.(Lys1463Asn)" "" "0000529465" "00024019" "10" "4455" "0" "4455" "0" "c.4455G>A" "r.(?)" "p.(Pro1485=)" "" "0000529466" "00024019" "30" "4938" "0" "4938" "0" "c.4938C>T" "r.(?)" "p.(Leu1646=)" "" "0000529467" "00024019" "50" "4945" "0" "4945" "0" "c.4945T>A" "r.(?)" "p.(Ser1649Thr)" "" "0000610431" "00024019" "50" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Pro365Leu)" "" "0000610432" "00024019" "30" "1679" "-20579" "1679" "-20579" "c.1679-20579A>G" "r.(=)" "p.(=)" "" "0000610433" "00024019" "50" "3929" "0" "3929" "0" "c.3929C>G" "r.(?)" "p.(Ser1310Cys)" "" "0000610434" "00024019" "30" "3948" "0" "3948" "0" "c.3948C>T" "r.(?)" "p.(Arg1316=)" "" "0000610435" "00024019" "50" "4361" "0" "4361" "0" "c.4361A>C" "r.(?)" "p.(Gln1454Pro)" "" "0000621746" "00024019" "30" "186" "0" "186" "0" "c.186G>A" "r.(?)" "p.(Ala62=)" "" "0000621747" "00024019" "30" "708" "0" "708" "0" "c.708C>T" "r.(?)" "p.(Ser236=)" "" "0000621748" "00024019" "30" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Pro1253Leu)" "" "0000652035" "00024019" "30" "3470" "0" "3470" "0" "c.3470C>T" "r.(?)" "p.(Pro1157Leu)" "" "0000652036" "00024019" "30" "3941" "0" "3941" "0" "c.3941T>C" "r.(?)" "p.(Leu1314Pro)" "" "0000655639" "00024019" "30" "1265" "0" "1265" "0" "c.1265C>T" "r.(?)" "p.(Pro422Leu)" "" "0000655640" "00024019" "30" "3308" "12" "3308" "12" "c.3308+12T>G" "r.(=)" "p.(=)" "" "0000655641" "00024019" "30" "3850" "6" "3850" "6" "c.3850+6C>T" "r.(=)" "p.(=)" "" "0000677849" "00024019" "50" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Ala225Val)" "" "0000677850" "00024019" "50" "2764" "0" "2764" "0" "c.2764C>A" "r.(?)" "p.(Pro922Thr)" "" "0000677851" "00024019" "50" "4055" "0" "4055" "0" "c.4055G>A" "r.(?)" "p.(Arg1352Gln)" "" "0000689788" "00024019" "50" "3441" "0" "3441" "0" "c.3441T>A" "r.(?)" "p.(Ser1147Arg)" "" "0000689789" "00024019" "50" "3901" "0" "3901" "0" "c.3901C>T" "r.(?)" "p.(Arg1301Ter)" "" "0000721052" "00024019" "30" "3554" "6" "3554" "10" "c.3554+6_3554+10del" "r.(=)" "p.(=)" "" "0000721053" "00024019" "50" "3703" "0" "3703" "0" "c.3703G>A" "r.(?)" "p.(Gly1235Arg)" "" "0000730797" "00024019" "50" "4945" "0" "4945" "0" "c.4945T>A" "r.(?)" "p.(Ser1649Thr)" "" "0000732515" "00024019" "90" "3959" "0" "3959" "0" "c.3959C>A" "r.(?)" "p.(Ser1320Tyr)" "" "0000732586" "00024019" "70" "3027" "0" "3027" "0" "c.3027T>C" "r.(?)" "p.(Asp1009=)" "" "0000732710" "00024019" "70" "3481" "0" "3481" "0" "c.3481A>G" "r.(?)" "p.(Arg1161Gly)" "" "0000759985" "00024019" "50" "2894" "0" "2894" "0" "c.2894C>T" "r.(?)" "p.(Pro965Leu)" "" "0000765444" "00024019" "90" "3490" "0" "3490" "0" "c.3490A>T" "p.R531*" "p.(Arg1164Ter)" "" "0000784164" "00024019" "50" "3194" "9" "3194" "9" "c.3194+9C>A" "r.spl" "p.?" "" "0000785574" "00024019" "50" "2372" "6" "2372" "6" "c.2372+6G>A" "r.(?)" "p.?" "" "0000788347" "00024019" "50" "1666" "0" "1666" "0" "c.1666G>T" "r.(?)" "p.(Val556Phe)" "6" "0000788422" "00024019" "50" "4186" "0" "4186" "0" "c.4186A>G" "r.(?)" "p.(Met1396Val)" "29" "0000788491" "00024019" "50" "3796" "0" "3796" "0" "c.3796C>T" "r.(?)" "p.(Arg1266Cys)" "26" "0000790348" "00024019" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000790349" "00024019" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000790350" "00024019" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000790351" "00024019" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000790352" "00024019" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000790353" "00024019" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000797014" "00024019" "50" "458" "0" "458" "0" "c.458A>C" "r.(?)" "p.(Asn153Thr)" "3" "0000797015" "00024019" "50" "4606" "0" "4606" "0" "c.4606A>G" "r.(?)" "p.(Thr1536Ala)" "31" "0000802689" "00024019" "50" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Pro458Ser)" "" "0000802690" "00024019" "50" "2261" "0" "2261" "0" "c.2261A>G" "r.(?)" "p.(Lys754Arg)" "" "0000802691" "00024019" "50" "2624" "0" "2624" "0" "c.2624T>C" "r.(?)" "p.(Leu875Pro)" "" "0000802692" "00024019" "30" "3650" "0" "3650" "0" "c.3650C>T" "r.(?)" "p.(Ser1217Leu)" "" "0000802693" "00024019" "30" "3850" "7" "3850" "7" "c.3850+7G>A" "r.(=)" "p.(=)" "" "0000815343" "00024019" "50" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Arg310Cys)" "" "0000815458" "00024019" "50" "1047" "0" "1049" "0" "c.1047_1049del" "r.(?)" "p.(Glu349del)" "" "0000815524" "00024019" "50" "2544" "4" "2544" "4" "c.2544+4A>G" "r.spl" "p.(?)" "" "0000815588" "00024019" "50" "3731" "0" "3731" "0" "c.3731T>C" "r.(?)" "p.(Leu1244Pro)" "" "0000817334" "00024019" "70" "3136" "0" "3136" "0" "c.3136delA" "r.(?)" "p.(Thr1047Hisfs*31)" "20" "0000818191" "00024019" "90" "3399" "-2" "3399" "-2" "c.3399-2del" "r.spl?" "p.?" "22i" "0000819897" "00024019" "70" "3194" "1" "3194" "1" "c.3194+1G>A" "r.spl" "p.(?)" "" "0000824354" "00024019" "90" "2035" "0" "2035" "0" "c.2035T>A" "r.(?)" "p.(Ser679Thr)" "10" "0000825525" "00024019" "50" "28" "0" "28" "0" "c.28C>T" "r.(?)" "p.(Pro10Ser)" "" "0000825526" "00024019" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000825527" "00024019" "50" "228" "0" "228" "0" "c.228G>T" "r.(?)" "p.(Gln76His)" "" "0000826153" "00024019" "70" "5071" "0" "5071" "0" "c.5071C>T" "r.(?)" "p.(Arg1691*)" "34" "0000828864" "00024019" "50" "3139" "0" "3139" "0" "c.3139del" "r.(?)" "p.(Thr1047Hisfs*31)" "" "0000860488" "00024019" "30" "1678" "7" "1678" "7" "c.1678+7G>C" "r.(=)" "p.(=)" "" "0000860489" "00024019" "30" "1902" "0" "1902" "0" "c.1902C>T" "r.(?)" "p.(Phe634=)" "" "0000860490" "00024019" "50" "2769" "0" "2769" "0" "c.2769A>G" "r.(?)" "p.(Pro923=)" "" "0000872829" "00024019" "90" "2459" "0" "2459" "0" "c.2459G>A" "r.(?)" "p.(Arg820His)" "14" "0000872830" "00024019" "90" "2459" "0" "2459" "0" "c.2459G>A" "r.(?)" "p.(Arg820His)" "14" "0000872831" "00024019" "90" "2459" "0" "2459" "0" "c.2459G>A" "r.(?)" "p.(Arg820His)" "14" "0000872832" "00024019" "90" "2459" "0" "2459" "0" "c.2459G>A" "r.(?)" "p.(Arg820His)" "14" "0000872833" "00024019" "90" "2459" "0" "2459" "0" "c.2459G>A" "r.(?)" "p.(Arg820His)" "14" "0000872834" "00024019" "90" "2459" "0" "2459" "0" "c.2459G>A" "r.(?)" "p.(Arg820His)" "14" "0000872835" "00024019" "90" "2459" "0" "2459" "0" "c.2459G>A" "r.(?)" "p.(Arg820His)" "14" "0000872836" "00024019" "90" "2459" "0" "2459" "0" "c.2459G>A" "r.(?)" "p.(Arg820His)" "14" "0000872837" "00024019" "70" "2459" "0" "2459" "0" "c.2459G>A" "r.(?)" "p.(Arg820His)" "14" "0000887395" "00024019" "30" "1122" "0" "1122" "0" "c.1122G>A" "r.(?)" "p.(Gln374=)" "" "0000887396" "00024019" "30" "2294" "0" "2294" "0" "c.2294A>G" "r.(?)" "p.(Gln765Arg)" "" "0000887397" "00024019" "50" "2939" "0" "2939" "0" "c.2939A>C" "r.(?)" "p.(Glu980Ala)" "" "0000896730" "00024019" "50" "3139" "0" "3139" "0" "c.3139delA" "r.(?)" "p.(Thr1047HisfsTer31)" "" "0000905978" "00024019" "50" "3203" "0" "3203" "0" "c.3203T>C" "r.(?)" "p.(Leu1068Pro)" "" "0000958505" "00024019" "50" "2456" "0" "2456" "0" "c.2456A>G" "r.(?)" "p.(His819Arg)" "" "0000958662" "00024019" "50" "1626" "0" "1626" "0" "c.1626G>C" "r.(?)" "p.(Glu542Asp)" "" "0000959005" "00024019" "50" "2708" "0" "2708" "0" "c.2708G>A" "r.(?)" "p.(Arg903Gln)" "" "0000959008" "00024019" "50" "1669" "0" "1669" "0" "c.1669A>T" "r.(?)" "p.(Ser557Cys)" "" "0000959012" "00024019" "50" "3117" "-8" "3117" "-8" "c.3117-8C>T" "r.spl?" "p.(?)" "" "0000959419" "00024019" "50" "1106" "0" "1107" "0" "c.1106_1107delinsGA" "r.(?)" "p.(Pro369Arg)" "" "0000977328" "00024019" "50" "2092" "0" "2092" "0" "c.2092C>T" "r.(?)" "p.(Arg698Trp)" "" "0001035883" "00024019" "50" "3430" "0" "3430" "0" "c.3430C>T" "r.(?)" "p.(Arg1144Ter)" "" "0001035884" "00024019" "30" "3964" "-3" "3964" "-3" "c.3964-3T>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 54 "{{screeningid}}" "{{variantid}}" "0000033182" "0000060188" "0000033202" "0000060189" "0000050109" "0000079061" "0000174762" "0000784164" "0000295346" "0000652035" "0000295347" "0000652036" "0000333213" "0000730797" "0000334590" "0000732515" "0000334654" "0000732586" "0000334711" "0000732710" "0000360188" "0000759985" "0000364579" "0000765444" "0000374744" "0000785574" "0000376617" "0000788422" "0000376619" "0000788347" "0000376628" "0000788491" "0000377941" "0000790348" "0000377944" "0000790349" "0000377945" "0000790350" "0000377946" "0000790351" "0000377947" "0000790352" "0000377948" "0000790353" "0000383030" "0000797014" "0000383031" "0000797015" "0000387405" "0000815458" "0000387424" "0000815588" "0000387459" "0000815343" "0000387491" "0000815524" "0000388617" "0000817334" "0000389273" "0000818191" "0000390552" "0000819897" "0000393575" "0000824354" "0000394595" "0000825525" "0000394596" "0000825526" "0000394597" "0000825527" "0000395006" "0000826153" "0000397118" "0000828864" "0000415084" "0000872829" "0000415085" "0000872830" "0000415086" "0000872831" "0000415087" "0000872832" "0000415088" "0000872833" "0000415089" "0000872834" "0000415090" "0000872835" "0000415091" "0000872836" "0000415092" "0000872837" "0000421893" "0000896730" "0000428265" "0000905978" "0000448671" "0000958505" "0000448895" "0000958662" "0000449203" "0000959419" "0000449238" "0000959005" "0000449241" "0000959008" "0000449245" "0000959012"