### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RNF135)
# 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}}"
"RNF135" "ring finger protein 135" "17" "q11.2" "unknown" "NG_011701.2" "UD_132119139621" "" "https://www.LOVD.nl/RNF135" "" "1" "21158" "84282" "611358" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. We gratefully acknowledge the efforts of Monique Losekoot (Leiden, Nederland), acting as curator for this gene until 2017." "" "g" "https://databases.lovd.nl/shared/refseq/RNF135_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2008-01-01 00:00:00" "00006" "2023-06-12 14:21:39" "00000" "2025-11-01 13:22:20"
## 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}}"
"00017903" "RNF135" "transcript variant 1" "002" "NM_032322.3" "" "NP_115698.3" "" "" "" "-136" "2017" "1299" "29297956" "29326927" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{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"
"00722" "MMFD" "macrocephaly, macrosomia, facial dysmorphism syndrome (MMFD)" "" "614192" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"RNF135" "00722"
## Individuals ## Do not remove or alter this header ##
## Count = 17
"{{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}}"
"00112387" "" "" "" "1" "" "00006" "{PMID:Douglas 2007:17632510}" "Mother: no clinical information available" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00112388" "" "" "" "1" "" "00006" "{PMID:Douglas 2007:17632510}" "" "" "" "" "" "0" "" "" "" ""
"00112389" "" "" "" "1" "" "00006" "{PMID:Douglas 2007:17632510}" "" "" "" "" "" "0" "" "" "" ""
"00112390" "" "" "" "1" "" "00006" "{PMID:Douglas 2007:17632510}" "" "" "" "" "" "0" "" "" "" ""
"00112391" "" "" "" "1" "" "00006" "{PMID:Douglas 2007:17632510}" "" "" "" "" "" "0" "" "" "" ""
"00112392" "" "" "" "1" "" "00006" "{PMID:Douglas 2007:17632510}" "" "" "" "" "" "0" "" "" "" ""
"00112393" "" "" "" "1" "" "00006" "{PMID:Douglas 2007:17632510}" "" "" "" "" "" "0" "" "" "" ""
"00112394" "" "" "" "1" "" "00006" "{PMID:Douglas 2007:17632510}" "" "" "" "" "" "0" "" "" "" ""
"00112395" "" "" "" "1" "" "00006" "{PMID:Douglas 2007:17632510}" "Mother and brother: mild learning disability, macrocephaly dysmorphism" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00112396" "" "" "" "1" "" "00006" "{PMID:Douglas 2007:17632510}" "Father: overgrowth only" "F" "" "France" "" "0" "" "" "" ""
"00112397" "" "" "" "1" "" "00006" "{PMID:Douglas 2007:17632510}" "Father: macrocephaly" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00112398" "" "" "" "1" "" "00006" "{PMID:Douglas 2007:17632510}" "" "" "" "" "" "0" "" "" "" ""
"00112399" "" "" "" "1" "" "00006" "{PMID:Douglas 2007:17632510}" "Father and brother: speech delay and macrocephaly" "F" "" "China" "" "0" "" "" "" ""
"00112400" "" "" "" "1" "" "00006" "{PMID:Douglas 2007:17632510}" "Mother: macrocephaly" "F" "" "China" "" "0" "" "" "" ""
"00112401" "" "" "" "1" "" "00006" "{PMID:Douglas 2007:17632510}" "" "" "" "" "" "0" "" "" "" ""
"00112402" "" "" "" "4" "" "00006" "{PMID:Douglas 2007:17632510}" "" "" "" "" "" "0" "" "" "" ""
"00291668" "" "" "" "1" "" "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 = 17
"{{individualid}}" "{{diseaseid}}"
"00112387" "00722"
"00112388" "00198"
"00112389" "00198"
"00112390" "00198"
"00112391" "00198"
"00112392" "00198"
"00112393" "00198"
"00112394" "00722"
"00112395" "00722"
"00112396" "00722"
"00112397" "00722"
"00112398" "00198"
"00112399" "00722"
"00112400" "00722"
"00112401" "00722"
"00112402" "00722"
"00291668" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00722
## Count = 16
"{{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}}"
"0000087951" "00722" "00112387" "00006" "Unknown" "" "height +2.1SD, weight +2.0SD, head circ. +2.2SD, learning disability - mild; Autistic spectrum disorder, unilateral cryptorchidism, dysmorphism, normal bone age; overgrowth" "" "" "" "" "" "" "" "" "" "" ""
"0000087952" "00198" "00112388" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087953" "00198" "00112389" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087954" "00198" "00112390" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087955" "00198" "00112391" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087956" "00198" "00112392" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087957" "00198" "00112393" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087958" "00722" "00112394" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087959" "00722" "00112395" "00006" "Unknown" "" "height +2.5SD, weight +4.4SD, head circ. +2.0SD, learning disability - moderate; Unilateral deafness, ataxia, dysmorphism, advanced bone age; overgrowth" "" "" "" "" "" "" "" "" "" "" ""
"0000087960" "00722" "00112396" "00006" "Unknown" "" "height +2.3SD, weight +3.0SD, head circ. +2.1SD, learning disability - mild; Strabismus, dysmorphism, advanced bone age; overgrowth" "" "" "" "" "" "" "" "" "" "" ""
"0000087961" "00722" "00112397" "00006" "Unknown" "" "height +1.1SD, weight +1.3SD, head circ. +4.1SD, learning disability - moderate; Autistic spectrum disorder, cranial asymmetry, dysmorphism, dyspraxia; overgrowth" "" "" "" "" "" "" "" "" "" "" ""
"0000087962" "00198" "00112398" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087963" "00722" "00112399" "00006" "Unknown" "" "height +2.3SD, weight +2.3SD, head circ. +3.3SD, learning disability - severe; Bilateral optic nerve hypoplasia, pulmonary stenosis, mild pectus carinatum, dysmorphism, advanced bone age; overgrowth" "" "" "" "" "" "" "" "" "" "" ""
"0000087964" "00722" "00112400" "00006" "Unknown" "" "height +2.9SD, weight +2.8SD, head circ. +3.9SD, learning disability - mild; Macropthalmia, severe myopia, mixed bilateral hearing loss, dysmorphism; overgrowth" "" "" "" "" "" "" "" "" "" "" ""
"0000087965" "00722" "00112401" "00006" "Unknown" "" "overgrowth" "" "" "" "" "" "" "" "" "" "" ""
"0000087966" "00722" "00112402" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 17
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000112845" "00112387" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "MLPA" "DNA" "" ""
"0000112846" "00112388" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "CSGE;SEQ" "DNA" "" ""
"0000112847" "00112389" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "CSGE;SEQ" "DNA" "" ""
"0000112848" "00112390" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "CSGE;SEQ" "DNA" "" ""
"0000112849" "00112391" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "CSGE;SEQ" "DNA" "" ""
"0000112850" "00112392" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "CSGE;SEQ" "DNA" "" ""
"0000112851" "00112393" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "CSGE;SEQ" "DNA" "" ""
"0000112852" "00112394" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "CSGE;SEQ" "DNA" "" ""
"0000112853" "00112395" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "CSGE;SEQ" "DNA" "" ""
"0000112854" "00112396" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "CSGE;SEQ" "DNA" "" ""
"0000112855" "00112397" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "CSGE;SEQ" "DNA" "" ""
"0000112856" "00112398" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "CSGE;SEQ" "DNA" "" ""
"0000112857" "00112399" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "CSGE;SEQ" "DNA" "" ""
"0000112858" "00112400" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "CSGE;SEQ" "DNA" "" ""
"0000112859" "00112401" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "CSGE;SEQ" "DNA" "" ""
"0000112860" "00112402" "1" "00006" "00006" "2008-01-16 17:28:51" "" "" "CSGE;SEQ" "DNA" "" ""
"0000292836" "00291668" "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 = 16
"{{screeningid}}" "{{geneid}}"
"0000112845" "RNF135"
"0000112846" "RNF135"
"0000112847" "RNF135"
"0000112848" "RNF135"
"0000112849" "RNF135"
"0000112850" "RNF135"
"0000112851" "RNF135"
"0000112852" "RNF135"
"0000112853" "RNF135"
"0000112854" "RNF135"
"0000112855" "RNF135"
"0000112856" "RNF135"
"0000112857" "RNF135"
"0000112858" "RNF135"
"0000112859" "RNF135"
"0000112860" "RNF135"
## 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 = 46
"{{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}}"
"0000181547" "1" "90" "17" "29298091" "29326210" "" "0" "00006" "RNF135_000001" "g.(?_29298091)_(29326210_?)del" "" "{PMID:Douglas 2007:17632510}" "" "" "deletion includes CRLF3, C17orf41, C17orf42, CENTA" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000181548" "1" "10" "17" "29298229" "29298229" "subst" "1.88743E-5" "00006" "RNF135_000006" "g.29298229G>A" "" "{PMID:Douglas 2007:17632510}" "" "" "" "Germline" "" "" "0" "" "" "g.30971211G>A" "" "benign" ""
"0000181549" "1" "10" "17" "29298304" "29298304" "subst" "0.0309304" "00006" "RNF135_000007" "g.29298304C>G" "" "{PMID:Douglas 2007:17632510}" "" "" "common variant" "Germline" "" "rs7225888" "0" "" "" "g.30971286C>G" "" "benign" ""
"0000181550" "1" "10" "17" "29298395" "29298395" "subst" "2.59583E-5" "00006" "RNF135_000008" "g.29298395C>T" "" "{PMID:Douglas 2007:17632510}" "" "" "" "Germline" "" "" "0" "" "" "g.30971377C>T" "" "benign" ""
"0000181551" "1" "10" "17" "29298413" "29298413" "subst" "0" "00006" "RNF135_000009" "g.29298413C>T" "" "{PMID:Douglas 2007:17632510}" "" "" "common variant\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs7211440" "0" "" "" "g.30971395C>T" "" "benign" ""
"0000181552" "1" "10" "17" "29298435" "29298435" "subst" "0.0122978" "00006" "RNF135_000010" "g.29298435G>A" "" "{PMID:Douglas 2007:17632510}" "" "" "common variant" "Germline" "" "" "0" "" "" "g.30971417G>A" "" "benign" ""
"0000181553" "1" "10" "17" "29298451" "29298451" "subst" "0.0317049" "00006" "RNF135_000011" "g.29298451G>T" "" "{PMID:Douglas 2007:17632510}" "" "" "common variant" "Germline" "" "rs7224960" "0" "" "" "g.30971433G>T" "" "benign" ""
"0000181554" "1" "10" "17" "29315018" "29315018" "subst" "0.000942209" "00006" "RNF135_000012" "g.29315018C>T" "" "{PMID:Douglas 2007:17632510}" "" "" "" "Germline" "" "" "0" "" "" "g.30988000C>T" "" "benign" ""
"0000181555" "1" "90" "17" "29324307" "29324307" "subst" "1.21838E-5" "00006" "RNF135_000002" "g.29324307C>T" "" "{PMID:Douglas 2007:17632510}" "" "" "" "Germline" "" "" "0" "" "" "g.30997289C>T" "" "pathogenic" ""
"0000181556" "1" "90" "17" "29324322" "29324322" "del" "0" "00006" "RNF135_000003" "g.29324322del" "" "{PMID:Douglas 2007:17632510}" "" "" "" "Germline" "" "" "0" "" "" "g.30997304del" "" "pathogenic" ""
"0000181557" "1" "50" "17" "29325767" "29325767" "subst" "6.11372E-5" "00006" "RNF135_000005" "g.29325767G>A" "" "{PMID:Douglas 2007:17632510}" "" "" "" "Germline" "" "" "0" "" "" "g.30998749G>A" "" "VUS" ""
"0000181558" "1" "10" "17" "29325846" "29325846" "subst" "0" "00006" "RNF135_000013" "g.29325846C>T" "" "{PMID:Douglas 2007:17632510}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.30998828C>T" "" "benign" ""
"0000181559" "1" "90" "17" "29325925" "29325925" "del" "0" "00006" "RNF135_000004" "g.29325925del" "" "{PMID:Douglas 2007:17632510}" "" "" "" "Germline" "" "" "0" "" "" "g.30998907del" "" "pathogenic" ""
"0000181560" "1" "90" "17" "29325925" "29325925" "del" "0" "00006" "RNF135_000004" "g.29325925del" "" "{PMID:Douglas 2007:17632510}" "" "" "" "Germline" "" "" "0" "" "" "g.30998907del" "" "pathogenic" ""
"0000181561" "1" "10" "17" "29326155" "29326155" "subst" "0.00536293" "00006" "RNF135_000014" "g.29326155G>T" "" "{PMID:Douglas 2007:17632510}" "" "" "" "Germline" "" "" "0" "" "" "g.30999137G>T" "" "benign" ""
"0000181562" "1" "10" "17" "29326155" "29326155" "subst" "0.00536293" "00006" "RNF135_000014" "g.29326155G>T" "" "{PMID:Douglas 2007:17632510}" "" "" "" "Germline" "" "" "0" "" "" "g.30999137G>T" "" "benign" ""
"0000307157" "0" "30" "17" "29315018" "29315018" "subst" "0.000942209" "01943" "RNF135_000012" "g.29315018C>T" "" "" "" "RNF135(NM_001184992.1):c.573C>T (p.D191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30988000C>T" "" "likely benign" ""
"0000307158" "0" "30" "17" "29315109" "29315109" "subst" "1.62513E-5" "01943" "RNF135_000015" "g.29315109G>A" "" "" "" "RNF135(NM_001184992.1):c.664G>A (p.E222K), RNF135(NM_032322.3):c.664G>A (p.(Glu222Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30988091G>A" "" "likely benign" ""
"0000307159" "0" "30" "17" "29325766" "29325766" "subst" "0.000187944" "01943" "RNF135_000016" "g.29325766C>T" "" "" "" "RNF135(NM_032322.3):c.856C>T (p.R286C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30998748C>T" "" "likely benign" ""
"0000560767" "0" "30" "17" "29298390" "29298390" "subst" "0.00337635" "01804" "RNF135_000017" "g.29298390A>G" "" "" "" "RNF135(NM_001184992.1):c.299A>G (p.(His100Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30971372A>G" "" "likely benign" ""
"0000560769" "0" "30" "17" "29298435" "29298435" "subst" "0.0122978" "01804" "RNF135_000010" "g.29298435G>A" "" "" "" "RNF135(NM_001184992.1):c.344G>A (p.(Arg115Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30971417G>A" "" "likely benign" ""
"0000560770" "0" "30" "17" "29314972" "29314972" "subst" "0.00133226" "01804" "RNF135_000019" "g.29314972C>G" "" "" "" "RNF135(NM_001184992.1):c.527C>G (p.(Ser176Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30987954C>G" "" "likely benign" ""
"0000560771" "0" "30" "17" "29320906" "29320906" "subst" "0.000512295" "01804" "RNF135_000020" "g.29320906C>T" "" "" "" "RNF135(NM_001184992.1):c.728C>T (p.(Ser243Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30993888C>T" "" "likely benign" ""
"0000560772" "0" "30" "17" "29324320" "29324320" "subst" "0" "01943" "RNF135_000021" "g.29324320C>T" "" "" "" "RNF135(NM_001184992.1):c.805C>T (p.H269Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30997302C>T" "" "likely benign" ""
"0000560774" "0" "30" "17" "29326155" "29326155" "subst" "0.00536293" "01804" "RNF135_000014" "g.29326155G>T" "" "" "" "RNF135(NM_001184992.1):c.*449G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30999137G>T" "" "likely benign" ""
"0000616446" "0" "30" "17" "29325919" "29325919" "subst" "0.000200224" "01804" "RNF135_000023" "g.29325919G>A" "" "" "" "RNF135(NM_001184992.1):c.*213G>A (p.(=)), RNF135(NM_032322.3):c.1009G>A (p.D337N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30998901G>A" "" "likely benign" ""
"0000623640" "0" "30" "17" "29325919" "29325919" "subst" "0.000200224" "01943" "RNF135_000023" "g.29325919G>A" "" "" "" "RNF135(NM_001184992.1):c.*213G>A (p.(=)), RNF135(NM_032322.3):c.1009G>A (p.D337N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30998901G>A" "" "likely benign" ""
"0000649525" "1" "30" "17" "29326155" "29326155" "subst" "0.00536293" "03575" "RNF135_000014" "g.29326155G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs61749868}" "Germline" "" "rs61749868" "0" "" "" "g.30999137G>T" "" "likely benign" ""
"0000658073" "0" "50" "17" "29298362" "29298362" "subst" "0" "01943" "RNF135_000024" "g.29298362G>T" "" "" "" "RNF135(NM_001184992.1):c.271G>T (p.E91*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30971344G>T" "" "VUS" ""
"0000658074" "0" "50" "17" "29325772" "29325772" "subst" "0" "01943" "RNF135_000025" "g.29325772C>G" "" "" "" "RNF135(NM_032322.3):c.862C>G (p.Q288E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30998754C>G" "" "VUS" ""
"0000680815" "0" "30" "17" "29298383" "29298383" "subst" "0.000529951" "01804" "RNF135_000026" "g.29298383C>G" "" "" "" "RNF135(NM_001184992.1):c.292C>G (p.(Pro98Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000680816" "0" "30" "17" "29325716" "29325716" "subst" "0" "01804" "RNF135_000027" "g.29325716C>G" "" "" "" "RNF135(NM_001184992.1):c.*10C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000726260" "0" "30" "17" "29298414" "29298414" "subst" "8.08771E-5" "01943" "RNF135_000028" "g.29298414C>T" "" "" "" "RNF135(NM_001184992.1):c.323C>T (p.S108F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000726261" "0" "50" "17" "29324351" "29324351" "dup" "0" "02329" "RNF135_000022" "g.29324351dup" "" "" "" "RNF135(NM_001184992.2):c.834+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000982392" "0" "30" "17" "29298107" "29298112" "del" "0" "01804" "RNF135_000029" "g.29298107_29298112del" "" "" "" "RNF135(NM_032322.4):c.16_21del (p.(Leu6_Gly7del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000982393" "0" "30" "17" "29325782" "29325782" "subst" "0.000106077" "01804" "RNF135_000030" "g.29325782G>A" "" "" "" "RNF135(NM_032322.4):c.872G>A (p.(Arg291His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001003067" "0" "30" "17" "29298416" "29298416" "subst" "2.7203E-5" "01804" "RNF135_000031" "g.29298416C>T" "" "" "" "RNF135(NM_032322.3):c.325C>T (p.(Leu109Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001003068" "0" "30" "17" "29315109" "29315109" "subst" "1.62513E-5" "01804" "RNF135_000015" "g.29315109G>A" "" "" "" "RNF135(NM_001184992.1):c.664G>A (p.E222K), RNF135(NM_032322.3):c.664G>A (p.(Glu222Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001003069" "0" "30" "17" "29320881" "29320881" "subst" "3.99249E-5" "01804" "RNF135_000032" "g.29320881T>A" "" "" "" "RNF135(NM_001184992.1):c.703T>A (p.(Cys235Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001003070" "0" "30" "17" "29325941" "29325941" "subst" "0" "01804" "RNF135_000033" "g.29325941T>C" "" "" "" "RNF135(NM_032322.3):c.1031T>C (p.(Met344Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001003071" "0" "50" "17" "29325953" "29325953" "subst" "0" "01804" "RNF135_000034" "g.29325953G>A" "" "" "" "RNF135(NM_032322.3):c.1043G>A (p.(Cys348Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041726" "0" "50" "17" "29325820" "29325820" "subst" "0" "01804" "RNF135_000035" "g.29325820T>C" "" "" "" "RNF135(NM_032322.4):c.910T>C (p.(Cys304Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001055903" "0" "50" "17" "29298267" "29298267" "del" "0" "01804" "RNF135_000036" "g.29298267del" "" "" "" "RNF135(NM_032322.4):c.176del (p.(Cys59Serfs*69))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001055904" "0" "50" "17" "29314981" "29314981" "subst" "0" "01804" "RNF135_000037" "g.29314981A>G" "" "" "" "RNF135(NM_032322.4):c.536A>G (p.(Asp179Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001055905" "0" "50" "17" "29325811" "29325811" "del" "0" "01804" "RNF135_000038" "g.29325811del" "" "" "" "RNF135(NM_032322.4):c.901del (p.(Gln301Argfs*34))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001055906" "0" "50" "17" "29325895" "29325895" "subst" "0" "01804" "RNF135_000039" "g.29325895G>T" "" "" "" "RNF135(NM_032322.4):c.985G>T (p.(Val329Leu))" "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 RNF135
## Count = 46
"{{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}}"
"0000181547" "00017903" "90" "-1" "0" "1300" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_5_"
"0000181548" "00017903" "10" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(=)" "1"
"0000181549" "00017903" "10" "213" "0" "213" "0" "c.213C>G" "r.(?)" "p.(His71Gln)" "1"
"0000181550" "00017903" "10" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Pro102Ser)" "1"
"0000181551" "00017903" "10" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Ser108Pro)" "1"
"0000181552" "00017903" "10" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115Lys)" "1"
"0000181553" "00017903" "10" "360" "0" "360" "0" "c.360G>T" "r.(?)" "p.(=)" "1"
"0000181554" "00017903" "10" "573" "0" "573" "0" "c.573C>T" "r.(?)" "p.(=)" "3"
"0000181555" "00017903" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Gln243*)" "4"
"0000181556" "00017903" "90" "742" "0" "742" "0" "c.742del" "r.(?)" "p.(Leu248Serfs*18)" "4"
"0000181557" "00017903" "50" "857" "0" "857" "0" "c.857G>A" "r.(?)" "p.(Arg286His)" "5"
"0000181558" "00017903" "10" "936" "0" "936" "0" "c.936C>T" "r.(?)" "p.(=)" "5"
"0000181559" "00017903" "90" "1015" "0" "1015" "0" "c.1015del" "r.(?)" "p.(Val339SerfsTer42)" "5"
"0000181560" "00017903" "90" "1015" "0" "1015" "0" "c.1015del" "r.(?)" "p.(Val339SerfsTer42)" "5"
"0000181561" "00017903" "10" "1245" "0" "1245" "0" "c.1245G>T" "r.(?)" "p.(Trp415Cys)" "5"
"0000181562" "00017903" "10" "1245" "0" "1245" "0" "c.1245G>T" "r.(?)" "p.(Trp415Cys)" "5"
"0000307157" "00017903" "30" "573" "0" "573" "0" "c.573C>T" "r.(?)" "p.(Asp191=)" ""
"0000307158" "00017903" "30" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Glu222Lys)" ""
"0000307159" "00017903" "30" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286Cys)" ""
"0000560767" "00017903" "30" "299" "0" "299" "0" "c.299A>G" "r.(?)" "p.(His100Arg)" ""
"0000560769" "00017903" "30" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115Lys)" ""
"0000560770" "00017903" "30" "527" "0" "527" "0" "c.527C>G" "r.(?)" "p.(Ser176Cys)" ""
"0000560771" "00017903" "30" "680" "-3354" "680" "-3354" "c.680-3354C>T" "r.(=)" "p.(=)" ""
"0000560772" "00017903" "30" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Ala247Val)" ""
"0000560774" "00017903" "30" "1245" "0" "1245" "0" "c.1245G>T" "r.(?)" "p.(Trp415Cys)" ""
"0000616446" "00017903" "30" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Asp337Asn)" ""
"0000623640" "00017903" "30" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Asp337Asn)" ""
"0000649525" "00017903" "30" "1245" "0" "1245" "0" "c.1245G>T" "r.(?)" "p.(Trp415Cys)" ""
"0000658073" "00017903" "50" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Glu91Ter)" ""
"0000658074" "00017903" "50" "862" "0" "862" "0" "c.862C>G" "r.(?)" "p.(Gln288Glu)" ""
"0000680815" "00017903" "30" "292" "0" "292" "0" "c.292C>G" "r.(?)" "p.(Pro98Ala)" ""
"0000680816" "00017903" "30" "806" "0" "806" "0" "c.806C>G" "r.(?)" "p.(Ser269Cys)" ""
"0000726260" "00017903" "30" "323" "0" "323" "0" "c.323C>T" "r.(?)" "p.(Ser108Phe)" ""
"0000726261" "00017903" "50" "769" "2" "769" "2" "c.769+2dup" "r.spl?" "p.?" ""
"0000982392" "00017903" "30" "16" "0" "21" "0" "c.16_21del" "r.(?)" "p.(Leu6_Gly7del)" ""
"0000982393" "00017903" "30" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Arg291His)" ""
"0001003067" "00017903" "30" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Leu109Phe)" ""
"0001003068" "00017903" "30" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Glu222Lys)" ""
"0001003069" "00017903" "30" "680" "-3379" "680" "-3379" "c.680-3379T>A" "r.(=)" "p.(=)" ""
"0001003070" "00017903" "30" "1031" "0" "1031" "0" "c.1031T>C" "r.(?)" "p.(Met344Thr)" ""
"0001003071" "00017903" "50" "1043" "0" "1043" "0" "c.1043G>A" "r.(?)" "p.(Cys348Tyr)" ""
"0001041726" "00017903" "50" "910" "0" "910" "0" "c.910T>C" "r.(?)" "p.(Cys304Arg)" ""
"0001055903" "00017903" "50" "176" "0" "176" "0" "c.176del" "r.(?)" "p.(Cys59Serfs*69)" ""
"0001055904" "00017903" "50" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Asp179Gly)" ""
"0001055905" "00017903" "50" "901" "0" "901" "0" "c.901del" "r.(?)" "p.(Gln301Argfs*34)" ""
"0001055906" "00017903" "50" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Val329Leu)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 17
"{{screeningid}}" "{{variantid}}"
"0000112845" "0000181547"
"0000112846" "0000181548"
"0000112847" "0000181549"
"0000112848" "0000181550"
"0000112849" "0000181551"
"0000112850" "0000181552"
"0000112851" "0000181553"
"0000112852" "0000181554"
"0000112853" "0000181555"
"0000112854" "0000181556"
"0000112855" "0000181557"
"0000112856" "0000181558"
"0000112857" "0000181559"
"0000112858" "0000181560"
"0000112859" "0000181561"
"0000112860" "0000181562"
"0000292836" "0000649525"