### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RIMS2) # 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}}" "RIMS2" "regulating synaptic membrane exocytosis 2" "8" "q22.3" "unknown" "NG_053027.1" "UD_132609905335" "" "https://www.LOVD.nl/RIMS2" "" "1" "17283" "9699" "606630" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/RIMS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-10 15:36:39" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00017779" "RIMS2" "transcript variant 1" "001" "NM_001100117.2" "" "NP_001093587.1" "" "" "" "-139" "6658" "4050" "104512976" "105266656" "" "0000-00-00 00:00:00" "" "" "00025740" "RIMS2" "transcript variant 5" "000" "NM_001348484.2" "" "NP_001335413.1" "" "" "" "-277" "9098" "4824" "104512838" "105268322" "00001" "2022-09-27 21:03:29" "" "" ## 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" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05130" "CSNB" "blindness, night, stationary, congenital (CSNB)" "" "" "" "" "" "00006" "2016-02-03 23:24:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RIMS2" "05130" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00303229" "" "" "" "3" "" "00006" "{PMID:Mechaussier 2020:32470375}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Senegal" "" "0" "" "" "" "Fam1PatIII-3" "00303230" "" "" "00303229" "1" "" "00006" "{PMID:Mechaussier 2020:32470375}" "" "F" "yes" "Senegal" "" "0" "" "" "" "Fam1PatIII-5" "00303231" "" "" "00303229" "1" "" "00006" "{PMID:Mechaussier 2020:32470375}" "" "M" "yes" "Senegal" "" "0" "" "" "" "Fam1PatIV-4" "00303232" "" "" "" "1" "" "00006" "{PMID:Mechaussier 2020:32470375}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "France" "" "0" "" "" "" "Fam2PatII-2" "00303233" "" "" "" "2" "" "00006" "{PMID:Mechaussier 2020:32470375}" "2-generation family, 2 affected (F, M), unaffected non-carrier parents" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam3PatII-1" "00303234" "" "" "00303233" "1" "" "00006" "{PMID:Mechaussier 2020:32470375}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam3PatII-2" "00303235" "" "" "" "1" "" "00006" "{PMID:Mechaussier 2020:32470375}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "yes" "France;Senegal" "" "0" "" "" "" "Fam4PatII-1" "00335540" "" "" "" "1" "" "00006" "{PMID:Huang 2017:28118666}" "2-generation family, affected father/daughter" "F" "" "China" "" "0" "" "" "" "Fam4PatII1" "00447124" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "CRD-853" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00303229" "00198" "00303230" "00198" "00303231" "00198" "00303232" "00198" "00303233" "00198" "00303234" "00198" "00303235" "00198" "00335540" "04214" "00447124" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04214, 05130 ## Count = 9 "{{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}}" "0000230313" "00198" "00303229" "00006" "Familial, autosomal recessive" "33y" "nystagmus; photophobia; no night blindness; visual acuity (RE) 20/250, visual acuity (LE) 20/320, refractive error (RE) -2 (1.75) 90°, refractive error (LE) -1; ERG electronegativity; optic disc pallor; no peripheral pigmentary migration, greyish retina; retinal thinning at the expense of inner retina; optic nerve dysversion; MRI brain normal; insulin-dependent diabetes mellitus; hyperglycemia: 1.26 g/L" "" "" "" "" "" "" "" "" "" "" "" "0000230314" "00198" "00303230" "00006" "Familial, autosomal recessive" "25y" "nystagmus; photophobia; no night blindness; visual acuity (RE) 20/3200, visual acuity (LE) 20/320, refractive error (RE) -0.75 (1.25) 20°, refractive error (LE) -2.50 (-2.25) 170°; ERG electronegativity; temporal optic disc pallor; no peripheral pigmentary migration; retinal thinning at the expense of inner retina; retrofoveal focal ellipsoid zone disruption; temporal retinal nerve fiber layer loss; autistic behavior; MRI brain normal; fasting blood glucose normal: 0.94 g/L; hyperglycemia: 1.13 g/L" "" "" "" "" "" "" "" "" "" "" "" "0000230315" "00198" "00303231" "00006" "Familial, autosomal recessive" "2y" "erratic ocular movement; photophobia; no night blindness; refractive error (RE) +2.25, refractive error (LE) 3; temporal optic disc pallor; no peripheral pigmentary migration; neurodevelopmental delay, general movement disorganization, ataxia manifestations, poor language; MRI brain dysmorphic corpus callosum; hyperglycemia: 1.33 g/L" "" "" "" "" "" "" "" "" "" "" "" "0000230316" "00198" "00303232" "00006" "Familial, autosomal recessive" "7y" "erratic ocular movement; photophobia; no night blindness; visual acuity (RE) 20/320, visual acuity (LE) 20/320, refractive error (RE) 6, refractive error (LE) 6; ERG electronegativity; optic disc pallor; no peripheral pigmentary migration; retinal thinning at the expense of inner retina; autistic features, stereotypies/obsessive-compulsive disorders; MRI brain normal; fasting blood glucose normal: 0.85 g/L" "" "" "" "" "" "" "" "" "" "" "" "0000230317" "00198" "00303233" "00006" "Familial, autosomal recessive" "7y" "nystagmus; photophobia; no night blindness; visual acuity (RE) light perception, visual acuity (LE) light perception; temporal optic-disc pallor; no peripheral pigmentary migration; severe autistic behavior, aggressivity, anxiety, no language" "" "" "" "" "" "" "" "" "" "" "" "0000230318" "00198" "00303234" "00006" "Familial, autosomal recessive" "6y" "nystagmus; photophobia; no night blindness; visual acuity (RE) light perception, visual acuity (LE) light perception; temporal optic-disc pallor; no peripheral pigmentary migration; autistic behavior, poor language" "" "" "" "" "" "" "" "" "" "" "" "0000230319" "00198" "00303235" "00006" "Familial, autosomal recessive" "9y" "nystagmus; photophobia; night blindness; visual acuity (RE) around 20/200, visual acuity (LE) around 20/200, refractive error (RE) -3 (-1) 175°, refractive error (LE) -4.50 (-2) 170°; ERG electronegativity; temporal optic-disc pallor; no peripheral pigmentary migration; Macular SD-OCT normal; neurodevelopmental delay, eventually with no learning disability; ataxia; hyperactive and mild autistic behavior; delay in language acquisition; MRI brain normal; normal blood glucose" "" "" "" "" "" "" "" "" "" "" "" "0000253486" "04214" "00335540" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000336323" "00198" "00447124" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304354" "00303229" "1" "00006" "00006" "2020-06-08 17:02:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304355" "00303230" "1" "00006" "00006" "2020-06-08 17:02:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304356" "00303231" "1" "00006" "00006" "2020-06-08 17:02:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304357" "00303232" "1" "00006" "00006" "2020-06-08 17:02:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304358" "00303233" "1" "00006" "00006" "2020-06-08 17:02:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304359" "00303234" "1" "00006" "00006" "2020-06-08 17:02:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304360" "00303235" "1" "00006" "00006" "2020-06-08 17:02:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000336769" "00335540" "1" "00006" "00006" "2021-03-07 16:52:01" "" "" "arraySNP;SEQ-NG" "DNA" "" "WES" "0000448701" "00447124" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000304354" "RIMS2" "0000304355" "RIMS2" "0000304356" "RIMS2" "0000304357" "RIMS2" "0000304358" "RIMS2" "0000304359" "RIMS2" "0000304360" "RIMS2" "0000336769" "RIMS2" ## 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 = 45 "{{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}}" "0000254624" "0" "30" "8" "104943496" "104943496" "subst" "2.15339E-5" "01943" "RIMS2_000002" "g.104943496A>G" "" "" "" "RIMS2(NM_001100117.2):c.2250A>G (p.K750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103931268A>G" "" "likely benign" "" "0000307108" "0" "30" "8" "104897928" "104897928" "subst" "0.00249513" "01943" "RIMS2_000001" "g.104897928G>A" "" "" "" "RIMS2(NM_001100117.2):c.1101G>A (p.R367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103885700G>A" "" "likely benign" "" "0000533467" "0" "30" "8" "104778687" "104778687" "subst" "0" "01943" "RIMS2_000003" "g.104778687A>C" "" "" "" "RIMS2(NM_001100117.2):c.620A>C (p.H207P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103766459A>C" "" "likely benign" "" "0000533486" "0" "30" "8" "104922623" "104922623" "subst" "0" "01943" "RIMS2_000004" "g.104922623C>T" "" "" "" "RIMS2(NM_001282881.1):c.1123C>T (p.Q375*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103910395C>T" "" "likely benign" "" "0000533487" "0" "50" "8" "104924330" "104924330" "subst" "3.67206E-5" "01943" "RIMS2_000005" "g.104924330G>A" "" "" "" "RIMS2(NM_001100117.2):c.1742G>A (p.R581H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103912102G>A" "" "VUS" "" "0000611389" "0" "50" "8" "104778647" "104778647" "subst" "4.06441E-6" "01943" "RIMS2_000006" "g.104778647G>A" "" "" "" "RIMS2(NM_001100117.2):c.580G>A (p.G194S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103766419G>A" "" "VUS" "" "0000667790" "3" "90" "8" "104987708" "104987708" "subst" "0" "00006" "RIMS2_000008" "g.104987708G>A" "" "{PMID:Mechaussier 2020:32470375}" "" "NM_001348484.1:c.3126G>A (Trp1042*)" "" "Germline" "" "" "0" "" "" "g.103975480G>A" "" "pathogenic (recessive)" "" "0000667791" "3" "90" "8" "104987708" "104987708" "subst" "0" "00006" "RIMS2_000008" "g.104987708G>A" "" "{PMID:Mechaussier 2020:32470375}" "" "NM_001348484.1:c.3126G>A (Trp1042*)" "" "Germline" "" "" "0" "" "" "g.103975480G>A" "" "pathogenic (recessive)" "" "0000667792" "3" "90" "8" "104987708" "104987708" "subst" "0" "00006" "RIMS2_000008" "g.104987708G>A" "" "{PMID:Mechaussier 2020:32470375}" "" "NM_001348484.1:c.3126G>A (Trp1042*)" "" "Germline" "" "" "0" "" "" "g.103975480G>A" "" "pathogenic (recessive)" "" "0000667793" "21" "90" "8" "104955112" "104955112" "subst" "4.06461E-6" "00006" "RIMS2_000009" "g.104955112C>T" "" "{PMID:Mechaussier 2020:32470375}" "" "NM_001348484.1:c.2884C>T (Arg962*)" "" "Germline" "" "" "0" "" "" "g.103942884C>T" "" "pathogenic (recessive)" "" "0000667794" "3" "90" "8" "105026792" "105026792" "subst" "0" "00006" "RIMS2_000007" "g.105026792C>T" "" "{PMID:Mechaussier 2020:32470375}" "" "NM_001348484.1:c.3508C>T (Arg1170*)" "" "Germline" "" "" "0" "" "" "g.104014564C>T" "" "pathogenic (recessive)" "" "0000667795" "3" "90" "8" "105026792" "105026792" "subst" "0" "00006" "RIMS2_000007" "g.105026792C>T" "" "{PMID:Mechaussier 2020:32470375}" "" "NM_001348484.1:c.3508C>T (Arg1170*)" "" "Germline" "" "" "0" "" "" "g.104014564C>T" "" "pathogenic (recessive)" "" "0000667796" "3" "90" "8" "104898290" "104898290" "subst" "0" "00006" "RIMS2_000010" "g.104898290C>G" "" "{PMID:Mechaussier 2020:32470375}" "" "NM_001348484.1:c.1595C>G (Ser532*)" "" "Germline" "" "" "0" "" "" "g.103886062C>G" "" "pathogenic (recessive)" "" "0000667797" "11" "90" "8" "105261042" "105261042" "subst" "0" "00006" "RIMS2_000011" "g.105261042G>A" "" "{PMID:Mechaussier 2020:32470375}" "" "NM_001348484.1:c.4363+1G>A" "" "Germline" "" "" "0" "" "" "g.104248814G>A" "" "pathogenic (recessive)" "" "0000736305" "11" "70" "8" "104901578" "105178819" "dup" "0" "00006" "RIMS2_000012" "g.(?_104901578)_(105178819_?)dup" "" "{PMID:Huang 2017:28118666}" "" "Chr8:104901578-105178819dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000803391" "0" "30" "8" "104778752" "104778752" "subst" "0.00222982" "01943" "RIMS2_000013" "g.104778752A>G" "" "" "" "RIMS2(NM_001348484.1):c.817A>G (p.I273V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803396" "0" "50" "8" "104973361" "104973361" "subst" "0" "01943" "RIMS2_000014" "g.104973361G>A" "" "" "" "RIMS2(NM_001348484.1):c.2995G>A (p.D999N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851762" "0" "50" "8" "104778602" "104778602" "subst" "8.12684E-6" "01943" "RIMS2_000015" "g.104778602A>C" "" "" "" "RIMS2(NM_001348484.1):c.667A>C (p.K223Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851767" "0" "50" "8" "104943552" "104943552" "subst" "0.0039081" "01943" "RIMS2_000016" "g.104943552A>C" "" "" "" "RIMS2(NM_001348484.1):c.2531A>C (p.D844A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851768" "0" "50" "8" "105053551" "105053551" "subst" "0" "01943" "RIMS2_000017" "g.105053551C>G" "" "" "" "RIMS2(NM_001348484.1):c.3560-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851769" "0" "30" "8" "105105755" "105105755" "subst" "0" "01943" "RIMS2_000018" "g.105105755G>C" "" "" "" "RIMS2(NM_001348484.1):c.3750G>C (p.S1250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851770" "0" "30" "8" "105160955" "105160955" "subst" "0" "01943" "RIMS2_000019" "g.105160955C>T" "" "" "" "RIMS2(NM_001348484.1):c.3987C>T (p.D1329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851771" "0" "50" "8" "105235970" "105235970" "subst" "0" "01943" "RIMS2_000020" "g.105235970G>A" "" "" "" "RIMS2(NM_001282882.1):c.91G>A (p.A31T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000945927" "0" "50" "8" "104709427" "104709427" "subst" "8.53714E-5" "03779" "RIMS2_000021" "g.104709427A>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs769908030" "0" "" "" "" "" "VUS" "" "0000958536" "1" "70" "8" "104897674" "104897674" "subst" "0" "00006" "RIMS2_000022" "g.104897674C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.103885446C>T" "" "likely pathogenic" "ACMG" "0000977974" "0" "30" "8" "104664438" "104664438" "subst" "0" "01804" "RIMS2_000023" "g.104664438A>G" "" "" "" "RIMS2(NM_001348484.2):c.182A>G (p.(Lys61Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977975" "0" "50" "8" "104664457" "104664457" "del" "0" "01804" "RIMS2_000024" "g.104664457del" "" "" "" "RIMS2(NM_001348484.2):c.201del (p.(Gln67HisfsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977980" "0" "50" "8" "104709427" "104709427" "subst" "8.53714E-5" "01804" "RIMS2_000021" "g.104709427A>T" "" "" "" "RIMS2(NM_001348484.2):c.410A>T (p.(Lys137Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977981" "0" "50" "8" "104898341" "104898341" "subst" "4.90545E-5" "01804" "RIMS2_000025" "g.104898341G>A" "" "" "" "RIMS2(NM_001348484.2):c.1646G>A (p.(Gly549Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977982" "0" "50" "8" "104922413" "104922413" "subst" "0" "02325" "RIMS2_000026" "g.104922413C>T" "" "" "" "RIMS2(NM_014677.5):c.1100C>T (p.A367V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977983" "0" "50" "8" "104940089" "104940091" "del" "0" "01804" "RIMS2_000027" "g.104940089_104940091del" "" "" "" "RIMS2(NM_001100117.3):c.2216_2218del (p.(Arg739del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977984" "0" "50" "8" "105025740" "105025740" "subst" "0" "02325" "RIMS2_000028" "g.105025740C>T" "" "" "" "RIMS2(NM_014677.5):c.2557C>T (p.R853W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996852" "0" "30" "8" "104778455" "104778455" "subst" "0" "01804" "RIMS2_000029" "g.104778455G>A" "" "" "" "RIMS2(NM_001100117.2):c.388G>A (p.(Val130Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996855" "0" "50" "8" "104955109" "104955109" "subst" "6.90978E-5" "01804" "RIMS2_000030" "g.104955109C>G" "" "" "" "RIMS2(NM_001100117.2):c.2656C>G (p.(Pro886Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036673" "0" "50" "8" "104664444" "104664444" "subst" "0" "01804" "RIMS2_000031" "g.104664444A>G" "" "" "" "RIMS2(NM_001348484.2):c.188A>G (p.(Glu63Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036677" "0" "50" "8" "104709424" "104709424" "subst" "0.000512303" "01804" "RIMS2_000032" "g.104709424A>G" "" "" "" "RIMS2(NM_001348484.2):c.407A>G (p.(His136Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036678" "0" "50" "8" "104897852" "104897852" "subst" "0.000219997" "01804" "RIMS2_000033" "g.104897852A>G" "" "" "" "RIMS2(NM_001348484.2):c.1157A>G (p.(Tyr386Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036679" "0" "50" "8" "104898423" "104898428" "del" "0" "01804" "RIMS2_000034" "g.104898423_104898428del" "" "" "" "RIMS2(NM_001348484.2):c.1728_1733del (p.(Ile577_Glu578del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036680" "0" "70" "8" "104924279" "104924285" "del" "0" "01804" "RIMS2_000035" "g.104924279_104924285del" "" "" "" "RIMS2(NM_001348484.2):c.1966-2_1970del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036681" "0" "50" "8" "105010483" "105010483" "subst" "0.000722943" "01804" "RIMS2_000036" "g.105010483A>G" "" "" "" "RIMS2(NM_001348486.2):c.3215+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036682" "0" "50" "8" "105105703" "105105703" "subst" "0" "01804" "RIMS2_000037" "g.105105703G>A" "" "" "" "RIMS2(NM_001348484.2):c.3698G>A (p.(Arg1233Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036683" "0" "30" "8" "105160982" "105160982" "subst" "0" "01804" "RIMS2_000038" "g.105160982T>A" "" "" "" "RIMS2(NM_001348484.2):c.4014T>A (p.(Ser1338Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053086" "0" "50" "8" "104922618" "104922618" "subst" "0" "01804" "RIMS2_000039" "g.104922618A>G" "" "" "" "RIMS2(NM_001348484.2):c.1826A>G (p.(Glu609Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064971" "0" "50" "8" "104709490" "104709490" "subst" "1.22005E-5" "02325" "chr8_006063" "g.104709490G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064972" "0" "50" "8" "104897852" "104897852" "subst" "0.000219997" "02325" "RIMS2_000033" "g.104897852A>G" "" "" "" "RIMS2(NM_001348484.2):c.1157A>G (p.(Tyr386Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RIMS2 ## Count = 51 "{{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}}" "0000254624" "00017779" "30" "2250" "0" "2250" "0" "c.2250A>G" "r.(?)" "p.(Lys750=)" "" "0000307108" "00017779" "30" "1101" "0" "1101" "0" "c.1101G>A" "r.(?)" "p.(Arg367=)" "" "0000533467" "00017779" "30" "620" "0" "620" "0" "c.620A>C" "r.(?)" "p.(His207Pro)" "" "0000533486" "00017779" "30" "1692" "194" "1692" "194" "c.1692+194C>T" "r.(=)" "p.(=)" "" "0000533487" "00017779" "50" "1742" "0" "1742" "0" "c.1742G>A" "r.(?)" "p.(Arg581His)" "" "0000611389" "00017779" "50" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Gly194Ser)" "" "0000667790" "00017779" "90" "2901" "0" "2901" "0" "c.2901G>A" "r.(?)" "p.(Trp967*)" "" "0000667791" "00017779" "90" "2901" "0" "2901" "0" "c.2901G>A" "r.(?)" "p.(Trp967*)" "" "0000667792" "00017779" "90" "2901" "0" "2901" "0" "c.2901G>A" "r.(?)" "p.(Trp967*)" "" "0000667793" "00017779" "90" "2659" "0" "2659" "0" "c.2659C>T" "r.(?)" "p.(Arg887*)" "" "0000667794" "00017779" "90" "3283" "0" "3283" "0" "c.3283C>T" "r.(?)" "p.(Arg1095*)" "" "0000667795" "00017779" "90" "3283" "0" "3283" "0" "c.3283C>T" "r.(?)" "p.(Arg1095*)" "" "0000667796" "00017779" "90" "1463" "0" "1463" "0" "c.1463C>G" "r.(?)" "p.(Ser488*)" "" "0000667797" "00017779" "90" "3589" "1" "3589" "1" "c.3589+1G>A" "r.spl" "p.?" "" "0000736305" "00017779" "70" "1624" "3127" "3335" "-78325" "c.(?_1624+3127)_(3335-78325_?)dup" "r.?" "p.?" "" "0000803391" "00017779" "30" "685" "0" "685" "0" "c.685A>G" "r.(?)" "p.(Ile229Val)" "" "0000803396" "00017779" "50" "2770" "0" "2770" "0" "c.2770G>A" "r.(?)" "p.(Asp924Asn)" "" "0000851762" "00017779" "50" "535" "0" "535" "0" "c.535A>C" "r.(?)" "p.(Lys179Gln)" "" "0000851762" "00025740" "50" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" "" "0000851767" "00017779" "50" "2306" "0" "2306" "0" "c.2306A>C" "r.(?)" "p.(Asp769Ala)" "" "0000851767" "00025740" "50" "2531" "0" "2531" "0" "c.2531A>C" "r.(?)" "p.(Asp844Ala)" "" "0000851768" "00017779" "50" "3334" "26708" "3334" "26708" "c.3334+26708C>G" "r.(=)" "p.(=)" "" "0000851768" "00025740" "50" "3560" "-3" "3560" "-3" "c.3560-3C>G" "r.spl?" "p.?" "" "0000851769" "00017779" "30" "3334" "78912" "3334" "78912" "c.3334+78912G>C" "r.(=)" "p.(=)" "" "0000851769" "00025740" "30" "3750" "0" "3750" "0" "c.3750G>C" "r.(?)" "p.(Ser1250=)" "" "0000851770" "00017779" "30" "3335" "-96189" "3335" "-96189" "c.3335-96189C>T" "r.(=)" "p.(=)" "" "0000851770" "00025740" "30" "3987" "0" "3987" "0" "c.3987C>T" "r.(?)" "p.(Asp1329=)" "" "0000851771" "00017779" "50" "3335" "-21174" "3335" "-21174" "c.3335-21174G>A" "r.(=)" "p.(=)" "" "0000851771" "00025740" "50" "4109" "-21174" "4109" "-21174" "c.4109-21174G>A" "r.(=)" "p.(=)" "" "0000945927" "00025740" "50" "410" "0" "410" "0" "c.410A>T" "r.(?)" "p.(Lys137Ile)" "" "0000958536" "00017779" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Gln91Ter)" "" "0000977974" "00017779" "30" "177" "-44876" "177" "-44876" "c.177-44876A>G" "r.(=)" "p.(=)" "" "0000977975" "00017779" "50" "177" "-44857" "177" "-44857" "c.177-44857del" "r.(=)" "p.(=)" "" "0000977980" "00017779" "50" "290" "0" "290" "0" "c.290A>T" "r.(?)" "p.(Lys97Ile)" "" "0000977981" "00017779" "50" "1514" "0" "1514" "0" "c.1514G>A" "r.(?)" "p.(Gly505Asp)" "" "0000977982" "00017779" "50" "1676" "0" "1676" "0" "c.1676C>T" "r.(?)" "p.(Ala559Val)" "" "0000977983" "00017779" "50" "2216" "0" "2218" "0" "c.2216_2218del" "r.(?)" "p.(Arg739del)" "" "0000977984" "00017779" "50" "3115" "0" "3115" "0" "c.3115C>T" "r.(?)" "p.(Arg1039Trp)" "" "0000996852" "00017779" "30" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Val130Ile)" "" "0000996855" "00017779" "50" "2656" "0" "2656" "0" "c.2656C>G" "r.(?)" "p.(Pro886Ala)" "" "0001036673" "00017779" "50" "177" "-44870" "177" "-44870" "c.177-44870A>G" "r.(=)" "p.(=)" "" "0001036677" "00017779" "50" "287" "0" "287" "0" "c.287A>G" "r.(?)" "p.(His96Arg)" "" "0001036678" "00017779" "50" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(Tyr342Cys)" "" "0001036679" "00017779" "50" "1596" "0" "1601" "0" "c.1596_1601del" "r.(?)" "p.(Ile533_Glu534del)" "" "0001036680" "00017779" "70" "1693" "-2" "1697" "0" "c.1693-2_1697del" "r.spl?" "p.?" "" "0001036681" "00017779" "50" "3044" "8834" "3044" "8834" "c.3044+8834A>G" "r.(=)" "p.(=)" "" "0001036682" "00017779" "50" "3334" "78860" "3334" "78860" "c.3334+78860G>A" "r.(=)" "p.(=)" "" "0001036683" "00017779" "30" "3335" "-96162" "3335" "-96162" "c.3335-96162T>A" "r.(=)" "p.(=)" "" "0001053086" "00017779" "50" "1692" "189" "1692" "189" "c.1692+189A>G" "r.(=)" "p.(=)" "" "0001064971" "00017779" "50" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118His)" "" "0001064972" "00017779" "50" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(Tyr342Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000304354" "0000667790" "0000304355" "0000667791" "0000304356" "0000667792" "0000304357" "0000667793" "0000304357" "0000667797" "0000304358" "0000667794" "0000304359" "0000667795" "0000304360" "0000667796" "0000336769" "0000736305" "0000448701" "0000958536"