### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RIN2) # 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}}" "RIN2" "Ras and Rab interactor 2" "20" "p11.22" "unknown" "NG_016310.2" "UD_132118683059" "" "https://www.LOVD.nl/RIN2" "" "1" "18750" "54453" "610222" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-10-11 17:02:15" "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}}" "00017783" "RIN2" "transcript variant 1" "001" "NM_001242581.1" "" "NP_001229510.1" "" "" "" "-149" "4358" "2835" "19867165" "19983103" "" "0000-00-00 00:00:00" "" "" ## 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" "03242" "MACS" "MACS syndrome (MACS, macrocephaly, alopecia, cutis laxa, and scoliosis)" "AR" "613075" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04212" "BBS" "Bardet-Biedl syndrome (BBS)" "" "" "" "" "" "00006" "2015-02-27 19:01:43" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RIN2" "03242" ## 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}}" "00239141" "" "" "" "5" "" "03312" "{PMID:Shaukat 2019:31521835}" "3-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives\r\nheterozygous carriers" "M" "yes" "Pakistan" "" "0" "" "" "Asian" "FamPatIII2" "00265912" "" "" "00239141" "1" "" "03312" "{PMID:Shaukat 2019:31521835}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatIII1" "00265913" "" "" "00239141" "1" "" "03312" "{PMID:Shaukat 2019:31521835}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPatIII3" "00265914" "" "" "00239141" "1" "" "03312" "{PMID:Shaukat 2019:31521835}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatIII4" "00265915" "" "" "00239141" "1" "" "03312" "{PMID:Shaukat 2019:31521835}" "" "" "yes" "Pakistan" "" "0" "" "" "" "FamPatIII5" "00292883" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292884" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292885" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292886" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00239141" "00198" "00265912" "04212" "00265913" "04212" "00265914" "03242" "00265915" "03242" "00292883" "00198" "00292884" "00198" "00292885" "00198" "00292886" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03242, 04212 ## Count = 5 "{{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}}" "0000203689" "00198" "00239141" "03312" "Familial, autosomal recessive" "12y" "height 124cm (-3.4 SD), polydactyly, walking difficulties, speech impairment, no blindness, macrocephaly, alopecia, scoliosis, cutis laxa, no umbilical hernia, facial coarsening" "" "" "" "" "" "" "" "" "MACS;BBS-7" "mixed phenotype" "" "0000203690" "04212" "00265912" "03312" "Familial, autosomal recessive" "15y" "height 139cm (-3.5 SD), polydactyly, walking difficulties, speech impairment, blindness, no macrocephaly, no alopecia, no scoliosis, no cutis laxa, no umbilical hernia, no facial coarsening" "" "" "" "" "" "" "" "" "BBS-7" "Bardet-Biedl syndrome" "" "0000203691" "04212" "00265913" "03312" "Familial, autosomal recessive" "08y" "height 126cm (-0.1 SD), no polydactyly, walking difficulties, speech impairment, blindness, no macrocephaly, no alopecia, no scoliosis, no cutis laxa, no umbilical hernia, no facial coarsening" "" "" "" "" "" "" "" "" "BBS-7" "Bardet-Biedl syndrome" "" "0000203692" "03242" "00265914" "03312" "Familial, autosomal recessive" "06y" "height 111cm (-0.6 SD), no polydactyly, no walking difficulties, no speech impairment, no blindness, macrocephaly, no alopecia, no scoliosis, no cutis laxa, umbilical hernia, facial coarsening" "" "" "" "" "" "" "" "" "MACS" "RIN2 syndrome" "" "0000203693" "03242" "00265915" "03312" "Familial, autosomal recessive" "04y" "height 96cm (-1.3 SD), no polydactyly, no walking difficulties, no speech impairment, no blindness, macrocephaly, alopecia, scoliosis, no cutis laxa, umbilical hernia, facial coarsening" "" "" "" "" "" "" "" "" "MACS" "RIN2 syndrome" "" ## 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}}" "0000240245" "00239141" "1" "03312" "03312" "2019-06-03 07:16:27" "" "" "SEQ-NG" "DNA" "" "" "0000267032" "00265912" "1" "00006" "00006" "2019-10-11 17:09:44" "" "" "SEQ" "DNA" "" "" "0000267033" "00265913" "1" "03312" "00006" "2019-10-11 17:14:52" "" "" "SEQ" "DNA" "" "" "0000267034" "00265914" "1" "00006" "00006" "2019-10-11 17:22:52" "" "" "SEQ" "DNA" "" "" "0000267035" "00265915" "1" "03312" "00006" "2019-10-11 17:28:41" "" "" "SEQ" "DNA" "" "" "0000294051" "00292883" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294052" "00292884" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294053" "00292885" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294054" "00292886" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000240245" "BBS7" "0000240245" "RIN2" "0000267032" "BBS7" "0000267033" "BBS7" "0000267034" "RIN2" "0000267035" "RIN2" ## 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 = 52 "{{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}}" "0000299323" "0" "10" "20" "19970705" "19970705" "subst" "0.366215" "02329" "RIN2_000002" "g.19970705C>T" "" "" "" "RIN2(NM_001242581.2):c.1965C>T (p.H655=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19990061C>T" "" "benign" "" "0000299324" "0" "10" "20" "19951534" "19951534" "subst" "0.152023" "02329" "RIN2_000001" "g.19951534T>A" "" "" "" "RIN2(NM_001242581.2):c.736T>A (p.S246T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19970890T>A" "" "benign" "" "0000339614" "0" "10" "20" "19970705" "19970705" "subst" "0.366215" "02327" "RIN2_000002" "g.19970705C>T" "" "" "" "RIN2(NM_001242581.2):c.1965C>T (p.H655=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19990061C>T" "" "benign" "" "0000348816" "0" "10" "20" "19951534" "19951534" "subst" "0.152023" "02327" "RIN2_000001" "g.19951534T>A" "" "" "" "RIN2(NM_001242581.2):c.736T>A (p.S246T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19970890T>A" "" "benign" "" "0000484271" "3" "70" "20" "19970825" "19970825" "del" "0" "03312" "RIN2_000003" "g.19970825del" "" "{PMID:Shaukat 2019:31521835}" "" "NM_018993.3:c.1938delT" "" "Germline" "yes" "" "0" "" "" "g.19990181del" "" "pathogenic (recessive)" "" "0000569164" "0" "30" "20" "19951580" "19951580" "subst" "0.00124853" "01943" "RIN2_000005" "g.19951580G>A" "" "" "" "RIN2(NM_001242581.1):c.775+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19970936G>A" "" "likely benign" "" "0000569165" "0" "10" "20" "19955473" "19955473" "subst" "0.014459" "02329" "RIN2_000006" "g.19955473C>T" "" "" "" "RIN2(NM_001242581.2):c.951C>T (p.A317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19974829C>T" "" "benign" "" "0000569169" "0" "30" "20" "19955597" "19955598" "del" "0" "01804" "RIN2_000010" "g.19955597_19955598del" "" "" "" "RIN2(NM_001242581.1):c.1075_1076del (p.(Arg359AlafsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19974953_19974954del" "" "likely benign" "" "0000569170" "0" "30" "20" "19955597" "19955599" "del" "0" "01804" "RIN2_000011" "g.19955597_19955599del" "" "" "" "RIN2(NM_001242581.1):c.1075_1077del (p.(Arg359del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19974953_19974955del" "" "likely benign" "" "0000569171" "0" "30" "20" "19955598" "19955598" "subst" "0" "01804" "RIN2_000012" "g.19955598G>C" "" "" "" "RIN2(NM_001242581.1):c.1076G>C (p.(Arg359Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19974954G>C" "" "likely benign" "" "0000569172" "0" "30" "20" "19955599" "19955599" "subst" "0" "01804" "RIN2_000013" "g.19955599G>C" "" "" "" "RIN2(NM_001242581.1):c.1077G>C (p.(Arg359Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19974955G>C" "" "likely benign" "" "0000569174" "0" "30" "20" "19955612" "19955612" "subst" "0" "01804" "RIN2_000015" "g.19955612G>C" "" "" "" "RIN2(NM_001242581.1):c.1090G>C (p.A364P, p.(Ala364Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19974968G>C" "" "likely benign" "" "0000569176" "0" "10" "20" "19955713" "19955713" "subst" "0.0237319" "02329" "RIN2_000017" "g.19955713G>C" "" "" "" "RIN2(NM_001242581.2):c.1191G>C (p.L397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19975069G>C" "" "benign" "" "0000569178" "0" "30" "20" "19970853" "19970853" "subst" "0.00132187" "01943" "RIN2_000019" "g.19970853G>A" "" "" "" "RIN2(NM_001242581.1):c.2113G>A (p.V705I), RIN2(NM_001242581.2):c.2113G>A (p.V705I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19990209G>A" "" "likely benign" "" "0000569179" "0" "30" "20" "19970853" "19970853" "subst" "0.00132187" "02329" "RIN2_000019" "g.19970853G>A" "" "" "" "RIN2(NM_001242581.1):c.2113G>A (p.V705I), RIN2(NM_001242581.2):c.2113G>A (p.V705I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19990209G>A" "" "likely benign" "" "0000569180" "0" "10" "20" "19970888" "19970888" "subst" "0.0725887" "02329" "RIN2_000020" "g.19970888G>A" "" "" "" "RIN2(NM_001242581.2):c.2148G>A (p.P716=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19990244G>A" "" "benign" "" "0000569183" "0" "50" "20" "19981393" "19981393" "subst" "0.00110073" "01943" "RIN2_000023" "g.19981393A>T" "" "" "" "RIN2(NM_001242581.1):c.2648A>T (p.Y883F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20000749A>T" "" "VUS" "" "0000597894" "1" "70" "20" "19970825" "19970825" "del" "0" "03312" "RIN2_000003" "g.19970825del" "" "{PMID:Shaukat 2019:31521835}" "" "" "" "Germline" "" "" "0" "" "" "g.19990181del" "" "pathogenic (recessive)" "" "0000597895" "1" "70" "20" "19970825" "19970825" "del" "0" "03312" "RIN2_000003" "g.19970825del" "" "{PMID:Shaukat 2019:31521835}" "" "" "" "Germline" "" "" "0" "" "" "g.19990181del" "" "pathogenic (recessive)" "" "0000597896" "3" "70" "20" "19970825" "19970825" "del" "0" "03312" "RIN2_000003" "g.19970825del" "" "{PMID:Shaukat 2019:31521835}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19990181del" "" "pathogenic (recessive)" "" "0000597899" "3" "70" "20" "19970825" "19970825" "del" "0" "03312" "RIN2_000003" "g.19970825del" "" "{PMID:Shaukat 2019:31521835}" "" "" "" "Germline" "" "" "0" "" "" "g.19990181del" "" "pathogenic (recessive)" "" "0000617997" "0" "30" "20" "19955559" "19955559" "subst" "4.06441E-6" "01804" "RIN2_000024" "g.19955559A>T" "" "" "" "RIN2(NM_001242581.1):c.1037A>T (p.(Asn346Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19974915A>T" "" "likely benign" "" "0000617998" "0" "30" "20" "19955585" "19955586" "ins" "0" "01804" "RIN2_000025" "g.19955585_19955586insG" "" "" "" "RIN2(NM_001242581.1):c.1063_1064insG (p.(Ser355CysfsTer12))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19974941_19974942insG" "" "likely benign" "" "0000617999" "0" "30" "20" "19955585" "19955586" "ins" "0" "01804" "RIN2_000026" "g.19955585_19955586insGC" "" "" "" "RIN2(NM_001242581.1):c.1063_1064insGC (p.(Ser355CysfsTer42))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19974941_19974942insGC" "" "likely benign" "" "0000618000" "0" "30" "20" "19955585" "19955586" "ins" "0" "01804" "RIN2_000027" "g.19955585_19955586insGCC" "" "" "" "RIN2(NM_001242581.1):c.1063_1064insGCC (p.(Ser355delinsCysPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19974941_19974942insGCC" "" "likely benign" "" "0000618001" "0" "30" "20" "19956084" "19956084" "subst" "4.06223E-6" "01804" "RIN2_000028" "g.19956084C>G" "" "" "" "RIN2(NM_001242581.1):c.1562C>G (p.(Thr521Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19975440C>G" "" "likely benign" "" "0000650740" "1" "10" "20" "19915770" "19915770" "subst" "0.0125949" "03575" "RIN2_000004" "g.19915770G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs78648341}" "Germline" "" "rs78648341" "0" "" "" "g.19935126G>A" "" "benign" "" "0000650741" "1" "30" "20" "19937447" "19937447" "subst" "0.00120073" "03575" "RIN2_000029" "g.19937447C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs147968123}" "Germline" "" "rs147968123" "0" "" "" "g.19956803C>T" "" "likely benign" "" "0000650742" "1" "30" "20" "19955473" "19955473" "subst" "0.014459" "03575" "RIN2_000006" "g.19955473C>T" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs41306763}" "Germline" "" "rs41306763" "0" "" "" "g.19974829C>T" "" "likely benign" "" "0000650743" "1" "30" "20" "19956311" "19956311" "subst" "0.00454706" "03575" "RIN2_000018" "g.19956311G>A" "28/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "28 heterozygous, no homozygous; {DB:CLININrs181298473}" "Germline" "" "rs181298473" "0" "" "" "g.19975667G>A" "" "likely benign" "" "0000658722" "0" "30" "20" "19955608" "19955608" "subst" "0" "01943" "RIN2_000030" "g.19955608A>C" "" "" "" "RIN2(NM_001242581.1):c.1086A>C (p.P362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19974964A>C" "" "likely benign" "" "0000681568" "0" "10" "20" "19937312" "19937312" "subst" "0.0363621" "02329" "RIN2_000031" "g.19937312G>A" "" "" "" "RIN2(NM_001242581.2):c.359G>A (p.C120Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681569" "0" "30" "20" "19955612" "19955612" "subst" "0" "01943" "RIN2_000015" "g.19955612G>C" "" "" "" "RIN2(NM_001242581.1):c.1090G>C (p.A364P, p.(Ala364Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681570" "0" "30" "20" "19956034" "19956034" "subst" "0" "01943" "RIN2_000032" "g.19956034G>A" "" "" "" "RIN2(NM_001242581.1):c.1512G>A (p.A504=), RIN2(NM_018993.4):c.1365G>A (p.(Ala455=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692940" "0" "50" "20" "19867384" "19867384" "subst" "0.00235448" "01943" "RIN2_000033" "g.19867384C>T" "" "" "" "RIN2(NM_001242581.1):c.71C>T (p.P24L), RIN2(NM_001242581.2):c.71C>T (p.(Pro24Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692941" "0" "30" "20" "19937289" "19937289" "subst" "0.000845692" "01943" "RIN2_000034" "g.19937289C>T" "" "" "" "RIN2(NM_001242581.1):c.336C>T (p.S112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692942" "0" "30" "20" "19955320" "19955320" "subst" "1.2207E-5" "01943" "RIN2_000035" "g.19955320C>T" "" "" "" "RIN2(NM_001242581.1):c.798C>T (p.D266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692943" "0" "30" "20" "19956094" "19956094" "subst" "0.004005" "01943" "RIN2_000036" "g.19956094C>A" "" "" "" "RIN2(NM_001242581.1):c.1572C>A (p.P524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692944" "0" "50" "20" "19956311" "19956311" "subst" "0.00454706" "01943" "RIN2_000018" "g.19956311G>A" "" "" "" "RIN2(NM_001242581.1):c.1789G>A (p.V597M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727619" "0" "30" "20" "19915763" "19915763" "subst" "0.000389367" "01943" "RIN2_000037" "g.19915763G>A" "" "" "" "RIN2(NM_001242581.1):c.225G>A (p.S75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727620" "0" "30" "20" "19955748" "19955748" "subst" "0" "01943" "RIN2_000038" "g.19955748G>T" "" "" "" "RIN2(NM_001242581.1):c.1226G>T (p.R409L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855766" "0" "30" "20" "19981421" "19981421" "subst" "0.00071898" "02329" "RIN2_000039" "g.19981421A>T" "" "" "" "RIN2(NM_001242581.2):c.2676A>T (p.T892=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931150" "0" "10" "20" "19915769" "19915769" "subst" "0.00666386" "02329" "RIN2_000040" "g.19915769C>T" "" "" "" "RIN2(NM_001242581.2):c.231C>T (p.I77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983750" "0" "50" "20" "19945641" "19945641" "subst" "1.62651E-5" "01804" "RIN2_000042" "g.19945641G>A" "" "" "" "RIN2(NM_018993.4):c.509G>A (p.(Arg170Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983751" "0" "30" "20" "19956007" "19956007" "subst" "0.00261793" "01804" "RIN2_000043" "g.19956007G>C" "" "" "" "RIN2(NM_018993.4):c.1338G>C (p.(Arg446=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983752" "0" "30" "20" "19956034" "19956034" "subst" "0" "01804" "RIN2_000032" "g.19956034G>A" "" "" "" "RIN2(NM_001242581.1):c.1512G>A (p.A504=), RIN2(NM_018993.4):c.1365G>A (p.(Ala455=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005291" "0" "30" "20" "19970782" "19970782" "subst" "4.02515E-5" "01804" "RIN2_000044" "g.19970782G>A" "" "" "" "RIN2(NM_001242581.1):c.2042G>A (p.(Arg681Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043273" "0" "30" "20" "19867384" "19867384" "subst" "0.00235448" "01804" "RIN2_000033" "g.19867384C>T" "" "" "" "RIN2(NM_001242581.1):c.71C>T (p.P24L), RIN2(NM_001242581.2):c.71C>T (p.(Pro24Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043274" "0" "70" "20" "19870285" "19870285" "subst" "4.33194E-5" "01804" "RIN2_000045" "g.19870285C>T" "" "" "" "RIN2(NM_018993.4):c.40C>T (p.(Arg14*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043275" "0" "50" "20" "19955591" "19955591" "subst" "0" "01804" "RIN2_000046" "g.19955591C>A" "" "" "" "RIN2(NM_018993.4):c.922C>A (p.(Pro308Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043276" "0" "50" "20" "19955592" "19955592" "subst" "0.00017595" "01804" "RIN2_000047" "g.19955592C>A" "" "" "" "RIN2(NM_018993.4):c.923C>A (p.(Pro308Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043277" "0" "50" "20" "19977487" "19977487" "subst" "0" "01804" "RIN2_000048" "g.19977487G>A" "" "" "" "RIN2(NM_018993.4):c.2364+1G>A" "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 RIN2 ## Count = 52 "{{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}}" "0000299323" "00017783" "10" "1965" "0" "1965" "0" "c.1965C>T" "r.(?)" "p.(His655=)" "" "0000299324" "00017783" "10" "736" "0" "736" "0" "c.736T>A" "r.(?)" "p.(Ser246Thr)" "" "0000339614" "00017783" "10" "1965" "0" "1965" "0" "c.1965C>T" "r.(?)" "p.(His655=)" "" "0000348816" "00017783" "10" "736" "0" "736" "0" "c.736T>A" "r.(?)" "p.(Ser246Thr)" "" "0000484271" "00017783" "70" "2085" "0" "2085" "0" "c.2085del" "r.(?)" "p.(Asp696Ilefs*13)" "" "0000569164" "00017783" "30" "775" "7" "775" "7" "c.775+7G>A" "r.(=)" "p.(=)" "" "0000569165" "00017783" "10" "951" "0" "951" "0" "c.951C>T" "r.(?)" "p.(Ala317=)" "" "0000569169" "00017783" "30" "1075" "0" "1076" "0" "c.1075_1076del" "r.(?)" "p.(Arg359AlafsTer7)" "" "0000569170" "00017783" "30" "1075" "0" "1077" "0" "c.1075_1077del" "r.(?)" "p.(Arg359del)" "" "0000569171" "00017783" "30" "1076" "0" "1076" "0" "c.1076G>C" "r.(?)" "p.(Arg359Thr)" "" "0000569172" "00017783" "30" "1077" "0" "1077" "0" "c.1077G>C" "r.(?)" "p.(Arg359Ser)" "" "0000569174" "00017783" "30" "1090" "0" "1090" "0" "c.1090G>C" "r.(?)" "p.(Ala364Pro)" "" "0000569176" "00017783" "10" "1191" "0" "1191" "0" "c.1191G>C" "r.(?)" "p.(Leu397=)" "" "0000569178" "00017783" "30" "2113" "0" "2113" "0" "c.2113G>A" "r.(?)" "p.(Val705Ile)" "" "0000569179" "00017783" "30" "2113" "0" "2113" "0" "c.2113G>A" "r.(?)" "p.(Val705Ile)" "" "0000569180" "00017783" "10" "2148" "0" "2148" "0" "c.2148G>A" "r.(?)" "p.(Pro716=)" "" "0000569183" "00017783" "50" "2648" "0" "2648" "0" "c.2648A>T" "r.(?)" "p.(Tyr883Phe)" "" "0000597894" "00017783" "70" "2085" "0" "2085" "0" "c.2085del" "r.(?)" "p.(Asp696Ilefs*13)" "" "0000597895" "00017783" "70" "2085" "0" "2085" "0" "c.2085del" "r.(?)" "p.(Asp696Ilefs*13)" "" "0000597896" "00017783" "70" "2085" "0" "2085" "0" "c.2085del" "r.(?)" "p.(Asp696Ilefs*13)" "" "0000597899" "00017783" "70" "2085" "0" "2085" "0" "c.2085del" "r.(?)" "p.(Asp696Ilefs*13)" "" "0000617997" "00017783" "30" "1037" "0" "1037" "0" "c.1037A>T" "r.(?)" "p.(Asn346Ile)" "" "0000617998" "00017783" "30" "1063" "0" "1064" "0" "c.1063_1064insG" "r.(?)" "p.(Ser355CysfsTer12)" "" "0000617999" "00017783" "30" "1063" "0" "1064" "0" "c.1063_1064insGC" "r.(?)" "p.(Ser355CysfsTer42)" "" "0000618000" "00017783" "30" "1063" "0" "1064" "0" "c.1063_1064insGCC" "r.(?)" "p.(Ser355delinsCysPro)" "" "0000618001" "00017783" "30" "1562" "0" "1562" "0" "c.1562C>G" "r.(?)" "p.(Thr521Ser)" "" "0000650740" "00017783" "10" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Gly78Arg)" "" "0000650741" "00017783" "30" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Pro165Leu)" "" "0000650742" "00017783" "30" "951" "0" "951" "0" "c.951C>T" "r.(=)" "p.(=)" "" "0000650743" "00017783" "30" "1789" "0" "1789" "0" "c.1789G>A" "r.(?)" "p.(Val597Met)" "" "0000658722" "00017783" "30" "1086" "0" "1086" "0" "c.1086A>C" "r.(?)" "p.(Pro362=)" "" "0000681568" "00017783" "10" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Cys120Tyr)" "" "0000681569" "00017783" "30" "1090" "0" "1090" "0" "c.1090G>C" "r.(?)" "p.(Ala364Pro)" "" "0000681570" "00017783" "30" "1512" "0" "1512" "0" "c.1512G>A" "r.(?)" "p.(Ala504=)" "" "0000692940" "00017783" "50" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Pro24Leu)" "" "0000692941" "00017783" "30" "336" "0" "336" "0" "c.336C>T" "r.(?)" "p.(Ser112=)" "" "0000692942" "00017783" "30" "798" "0" "798" "0" "c.798C>T" "r.(?)" "p.(Asp266=)" "" "0000692943" "00017783" "30" "1572" "0" "1572" "0" "c.1572C>A" "r.(?)" "p.(Pro524=)" "" "0000692944" "00017783" "50" "1789" "0" "1789" "0" "c.1789G>A" "r.(?)" "p.(Val597Met)" "" "0000727619" "00017783" "30" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Ser75=)" "" "0000727620" "00017783" "30" "1226" "0" "1226" "0" "c.1226G>T" "r.(?)" "p.(Arg409Leu)" "" "0000855766" "00017783" "30" "2676" "0" "2676" "0" "c.2676A>T" "r.(?)" "p.(Thr892=)" "" "0000931150" "00017783" "10" "231" "0" "231" "0" "c.231C>T" "r.(?)" "p.(=)" "" "0000983750" "00017783" "50" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219Gln)" "" "0000983751" "00017783" "30" "1485" "0" "1485" "0" "c.1485G>C" "r.(?)" "p.(=)" "" "0000983752" "00017783" "30" "1512" "0" "1512" "0" "c.1512G>A" "r.(?)" "p.(Ala504=)" "" "0001005291" "00017783" "30" "2042" "0" "2042" "0" "c.2042G>A" "r.(?)" "p.(Arg681Gln)" "" "0001043273" "00017783" "30" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Pro24Leu)" "" "0001043274" "00017783" "70" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63*)" "" "0001043275" "00017783" "50" "1069" "0" "1069" "0" "c.1069C>A" "r.(?)" "p.(Pro357Thr)" "" "0001043276" "00017783" "50" "1070" "0" "1070" "0" "c.1070C>A" "r.(?)" "p.(Pro357Gln)" "" "0001043277" "00017783" "50" "2511" "1" "2511" "1" "c.2511+1G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000240245" "0000484271" "0000267032" "0000597894" "0000267033" "0000597895" "0000267034" "0000597896" "0000267035" "0000597899" "0000294051" "0000650740" "0000294052" "0000650741" "0000294053" "0000650742" "0000294054" "0000650743"