### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNF216) # 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}}" "RNF216" "ring finger protein 216" "7" "p22.1" "unknown" "NC_000007.13" "UD_132118846536" "" "https://www.LOVD.nl/RNF216" "" "1" "21698" "54476" "609948" "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/RNF216_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-11-14 00:00:00" "00006" "2023-01-17 11:41:53" "00000" "2025-07-10 17:49:02" ## 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}}" "00001758" "RNF216" "transcript variant 1" "002" "NM_207111.3" "" "NP_996994.1" "" "" "" "-259" "5591" "2772" "5659672" "5821361" "00000" "2012-11-14 17:24:53" "" "" ## 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}}" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01698" "GDHS" "ataxia, cerebellar, and hypogonadotropic hypogonadism" "AR" "212840" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RNF216" "01698" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00430226" "" "" "" "1" "cc_by-nc-nd_4.0;0" "04450" "" "" "M" "yes" "Turkey" "" "0" "" "" "Turkey" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00430226" "01698" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01157, 01698 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000321075" "01698" "00430226" "04450" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GDHS" "Gordon Holmes syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000431640" "00430226" "1" "04450" "04450" "2023-01-15 18:38:18" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000431640" "RNF216" ## 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 = 49 "{{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}}" "0000002427" "3" "50" "7" "5779643" "5779643" "dup" "0" "00037" "RNF216_000001" "g.5779643dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5740012dup" "" "VUS" "" "0000255013" "0" "30" "7" "5764980" "5764980" "subst" "0.000125911" "01943" "RNF216_000008" "g.5764980A>C" "" "" "" "RNF216(NM_207111.3):c.1479T>G (p.S493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5725349A>C" "" "likely benign" "" "0000307172" "0" "30" "7" "5770468" "5770468" "subst" "0.00215069" "01943" "RNF216_000012" "g.5770468T>C" "" "" "" "RNF216(NM_207111.3):c.1122-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5730837T>C" "" "likely benign" "" "0000307173" "0" "10" "7" "5770454" "5770454" "subst" "0.0707104" "01943" "RNF216_000011" "g.5770454G>A" "" "" "" "RNF216(NM_207111.3):c.1122-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5730823G>A" "" "benign" "" "0000307174" "0" "10" "7" "5770330" "5770330" "subst" "0.224694" "01943" "RNF216_000010" "g.5770330T>C" "" "" "" "RNF216(NM_207111.3):c.1224+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5730699T>C" "" "benign" "" "0000307175" "0" "10" "7" "5769150" "5769150" "subst" "0.0192878" "01943" "RNF216_000009" "g.5769150G>A" "" "" "" "RNF216(NM_207111.3):c.1302C>T (p.L434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5729519G>A" "" "benign" "" "0000307176" "0" "30" "7" "5752507" "5752507" "subst" "0.000533407" "01943" "RNF216_000007" "g.5752507G>A" "" "" "" "RNF216(NM_207111.3):c.1834-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5712876G>A" "" "likely benign" "" "0000307177" "0" "50" "7" "5680916" "5680916" "subst" "0" "01943" "RNF216_000006" "g.5680916G>A" "" "" "" "RNF216(NM_207111.3):c.2251C>T (p.R751C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5641285G>A" "" "VUS" "" "0000307178" "0" "30" "7" "5680851" "5680851" "subst" "0.000142135" "01943" "RNF216_000005" "g.5680851T>C" "" "" "" "RNF216(NM_207111.3):c.2316A>G (p.Q772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5641220T>C" "" "likely benign" "" "0000307179" "0" "30" "7" "5662719" "5662719" "subst" "0.000176432" "01943" "RNF216_000004" "g.5662719G>A" "" "" "" "RNF216(NM_207111.3):c.2544C>T (p.N848=), RNF216(NM_207111.4):c.2544C>T (p.N848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5623088G>A" "" "likely benign" "" "0000307180" "0" "30" "7" "5662671" "5662671" "subst" "0.00161881" "01943" "RNF216_000003" "g.5662671G>A" "" "" "" "RNF216(NM_207111.3):c.2592C>T (p.F864=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5623040G>A" "" "likely benign" "" "0000307181" "0" "30" "7" "5662506" "5662506" "subst" "0.000330292" "01943" "RNF216_000002" "g.5662506C>T" "" "" "" "RNF216(NM_207111.3):c.2757G>A (p.P919=), RNF216(NM_207111.4):c.2757G>A (p.P919=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5622875C>T" "" "likely benign" "" "0000307182" "0" "30" "7" "5781303" "5781303" "subst" "0.000779752" "01943" "RNF216_000014" "g.5781303G>A" "" "" "" "RNF216(NM_207111.3):c.345C>T (p.N115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5741672G>A" "" "likely benign" "" "0000307183" "0" "50" "7" "5800646" "5800646" "subst" "2.86897E-5" "01943" "RNF216_000015" "g.5800646G>A" "" "" "" "RNF216(NM_207111.3):c.55C>T (p.H19Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5761015G>A" "" "VUS" "" "0000307184" "0" "50" "7" "5781016" "5781016" "subst" "0.000198975" "01943" "RNF216_000013" "g.5781016T>C" "" "" "" "RNF216(NM_207111.3):c.632A>G (p.N211S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5741385T>C" "" "VUS" "" "0000343261" "0" "90" "7" "5751397" "5751397" "subst" "4.08594E-6" "02327" "RNF216_000016" "g.5751397G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5711766G>A" "" "pathogenic" "" "0000532301" "0" "30" "7" "5662725" "5662725" "subst" "0.000724214" "01943" "RNF216_000017" "g.5662725C>T" "" "" "" "RNF216(NM_207111.3):c.2538G>A (p.P846=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5623094C>T" "" "likely benign" "" "0000532310" "0" "30" "7" "5751449" "5751449" "subst" "0.000252182" "01943" "RNF216_000018" "g.5751449C>T" "" "" "" "RNF216(NM_207111.3):c.2004G>A (p.P668=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5711818C>T" "" "likely benign" "" "0000532311" "0" "10" "7" "5752432" "5752432" "subst" "0.00634095" "01943" "RNF216_000019" "g.5752432C>T" "" "" "" "RNF216(NM_207111.3):c.1896G>A (p.K632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5712801C>T" "" "benign" "" "0000532312" "0" "50" "7" "5760722" "5760722" "subst" "0" "01943" "RNF216_000020" "g.5760722A>G" "" "" "" "RNF216(NM_207111.3):c.1586T>C (p.L529P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5721091A>G" "" "VUS" "" "0000532313" "0" "10" "7" "5765034" "5765034" "subst" "0.00146648" "01943" "RNF216_000021" "g.5765034C>T" "" "" "" "RNF216(NM_207111.3):c.1425G>A (p.L475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5725403C>T" "" "benign" "" "0000532314" "0" "70" "7" "5769106" "5769106" "subst" "4.06095E-6" "01943" "RNF216_000022" "g.5769106C>T" "" "" "" "RNF216(NM_207111.3):c.1346G>A (p.W449*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5729475C>T" "" "likely pathogenic" "" "0000532315" "0" "30" "7" "5770393" "5770393" "subst" "0.000136157" "01943" "RNF216_000023" "g.5770393T>C" "" "" "" "RNF216(NM_207111.3):c.1177A>G (p.I393V), RNF216(NM_207111.4):c.1177A>G (p.I393V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5730762T>C" "" "likely benign" "" "0000532316" "0" "10" "7" "5770400" "5770400" "subst" "0.0600661" "01943" "RNF216_000024" "g.5770400G>A" "" "" "" "RNF216(NM_207111.3):c.1170C>T (p.D390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5730769G>A" "" "benign" "" "0000532317" "0" "50" "7" "5780794" "5780794" "subst" "0.00167725" "01943" "RNF216_000025" "g.5780794G>A" "" "" "" "RNF216(NM_207111.3):c.854C>T (p.S285L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5741163G>A" "" "VUS" "" "0000532318" "0" "50" "7" "5781025" "5781025" "subst" "0" "01943" "RNF216_000026" "g.5781025A>G" "" "" "" "RNF216(NM_207111.3):c.623T>C (p.L208P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5741394A>G" "" "VUS" "" "0000532319" "0" "30" "7" "5792489" "5792489" "subst" "0.000222069" "01943" "RNF216_000027" "g.5792489G>A" "" "" "" "RNF216(NM_207111.3):c.189C>T (p.V63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5752858G>A" "" "likely benign" "" "0000611140" "0" "50" "7" "5662579" "5662579" "subst" "1.62584E-5" "01943" "RNF216_000028" "g.5662579C>T" "" "" "" "RNF216(NM_207111.3):c.2684G>A (p.R895Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5622948C>T" "" "VUS" "" "0000611141" "0" "50" "7" "5770344" "5770344" "subst" "0.000162155" "01943" "RNF216_000029" "g.5770344G>A" "" "" "" "RNF216(NM_207111.3):c.1224+2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5730713G>A" "" "VUS" "" "0000621908" "0" "50" "7" "5781176" "5781176" "subst" "4.06065E-6" "01943" "RNF216_000030" "g.5781176G>A" "" "" "" "RNF216(NM_207111.3):c.472C>T (p.P158S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5741545G>A" "" "VUS" "" "0000655857" "0" "30" "7" "5764977" "5764977" "subst" "4.06154E-6" "01943" "RNF216_000032" "g.5764977G>A" "" "" "" "RNF216(NM_207111.3):c.1482C>T (p.Y494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5725346G>A" "" "likely benign" "" "0000655859" "0" "30" "7" "5781362" "5781362" "subst" "0" "01943" "RNF216_000034" "g.5781362G>A" "" "" "" "RNF216(NM_207111.3):c.286C>T (p.P96S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5741731G>A" "" "likely benign" "" "0000678136" "0" "30" "7" "5662563" "5662563" "subst" "1.62674E-5" "01943" "RNF216_000035" "g.5662563G>A" "" "" "" "RNF216(NM_207111.3):c.2700C>T (p.F900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678137" "0" "30" "7" "5751443" "5751443" "subst" "0.000243994" "01943" "RNF216_000036" "g.5751443C>A" "" "" "" "RNF216(NM_207111.3):c.2010G>T (p.L670=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721498" "0" "50" "7" "5754686" "5754686" "subst" "0" "02329" "RNF216_000031" "g.5754686T>C" "" "" "" "RNF216(NM_207111.4):c.1831A>G (p.K611E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721499" "0" "30" "7" "5770394" "5770394" "subst" "0.000206342" "01943" "RNF216_000037" "g.5770394G>A" "" "" "" "RNF216(NM_207111.3):c.1176C>T (p.I392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721500" "0" "30" "7" "5780863" "5780863" "subst" "0.000138079" "01943" "RNF216_000038" "g.5780863C>T" "" "" "" "RNF216(NM_207111.3):c.785G>A (p.R262H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721501" "0" "50" "7" "5780887" "5780887" "subst" "2.43639E-5" "02329" "RNF216_000033" "g.5780887C>T" "" "" "" "RNF216(NM_207111.4):c.761G>A (p.R254Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721502" "0" "30" "7" "5781154" "5781154" "subst" "4.06078E-6" "01943" "RNF216_000039" "g.5781154G>C" "" "" "" "RNF216(NM_207111.3):c.494C>G (p.A165G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860861" "0" "30" "7" "5662719" "5662719" "subst" "0.000176432" "02326" "RNF216_000004" "g.5662719G>A" "" "" "" "RNF216(NM_207111.3):c.2544C>T (p.N848=), RNF216(NM_207111.4):c.2544C>T (p.N848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887917" "0" "30" "7" "5770393" "5770393" "subst" "0.000136157" "02326" "RNF216_000023" "g.5770393T>C" "" "" "" "RNF216(NM_207111.3):c.1177A>G (p.I393V), RNF216(NM_207111.4):c.1177A>G (p.I393V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000916860" "3" "70" "7" "5752467" "5752468" "dup" "0" "04450" "RNF216_000040" "g.5752467_5752468dup" "" "" "" "1860_1861dupCT" "" "Germline" "yes" "" "0" "" "" "g.5712836_5712837dup" "" "pathogenic (recessive)" "ACMG" "0000924740" "0" "30" "7" "5662506" "5662506" "subst" "0.000330292" "02326" "RNF216_000002" "g.5662506C>T" "" "" "" "RNF216(NM_207111.3):c.2757G>A (p.P919=), RNF216(NM_207111.4):c.2757G>A (p.P919=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929356" "0" "50" "7" "5752422" "5752422" "subst" "8.13061E-6" "02325" "RNF216_000041" "g.5752422G>T" "" "" "" "RNF216(NM_207111.4):c.1906C>A (p.Q636K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929357" "0" "50" "7" "5754755" "5754755" "subst" "8.94644E-5" "02325" "RNF216_000042" "g.5754755C>T" "" "" "" "RNF216(NM_207111.4):c.1762G>A (p.A588T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020155" "0" "90" "7" "5751397" "5751397" "subst" "4.08594E-6" "03779" "RNF216_000016" "g.5751397G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs771216799" "0" "" "" "" "" "pathogenic" "" "0001046894" "0" "90" "7" "5781035" "5781036" "del" "0" "03779" "RNF216_000044" "g.5781035_5781036del" "" "" "" "" "" "Unknown" "" "rs387907370" "0" "" "" "" "" "pathogenic" "" "0001046895" "0" "90" "7" "5754726" "5754726" "subst" "0" "03779" "RNF216_000043" "g.5754726A>T" "" "" "" "" "" "Unknown" "" "rs387907369" "0" "" "" "" "" "pathogenic" "" "0001046896" "0" "90" "7" "5680916" "5680916" "subst" "0" "03779" "RNF216_000006" "g.5680916G>A" "" "" "" "" "" "Unknown" "" "rs387907368" "0" "" "" "" "" "pathogenic" "" ## 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 RNF216 ## Count = 49 "{{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}}" "0000002427" "00001758" "50" "1045" "-651" "1045" "-651" "c.1045-651dup" "r.(=)" "p.(=)" "" "0000255013" "00001758" "30" "1479" "0" "1479" "0" "c.1479T>G" "r.(?)" "p.(Ser493=)" "" "0000307172" "00001758" "30" "1122" "-20" "1122" "-20" "c.1122-20A>G" "r.(=)" "p.(=)" "" "0000307173" "00001758" "10" "1122" "-6" "1122" "-6" "c.1122-6C>T" "r.(=)" "p.(=)" "" "0000307174" "00001758" "10" "1224" "16" "1224" "16" "c.1224+16A>G" "r.(=)" "p.(=)" "" "0000307175" "00001758" "10" "1302" "0" "1302" "0" "c.1302C>T" "r.(?)" "p.(Leu434=)" "" "0000307176" "00001758" "30" "1834" "-13" "1834" "-13" "c.1834-13C>T" "r.(=)" "p.(=)" "" "0000307177" "00001758" "50" "2251" "0" "2251" "0" "c.2251C>T" "r.(?)" "p.(Arg751Cys)" "" "0000307178" "00001758" "30" "2316" "0" "2316" "0" "c.2316A>G" "r.(?)" "p.(Gln772=)" "" "0000307179" "00001758" "30" "2544" "0" "2544" "0" "c.2544C>T" "r.(?)" "p.(Asn848=)" "" "0000307180" "00001758" "30" "2592" "0" "2592" "0" "c.2592C>T" "r.(?)" "p.(Phe864=)" "" "0000307181" "00001758" "30" "2757" "0" "2757" "0" "c.2757G>A" "r.(?)" "p.(Pro919=)" "" "0000307182" "00001758" "30" "345" "0" "345" "0" "c.345C>T" "r.(?)" "p.(Asn115=)" "" "0000307183" "00001758" "50" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(His19Tyr)" "" "0000307184" "00001758" "50" "632" "0" "632" "0" "c.632A>G" "r.(?)" "p.(Asn211Ser)" "" "0000343261" "00001758" "90" "2056" "0" "2056" "0" "c.2056C>T" "r.(?)" "p.(Arg686Ter)" "" "0000532301" "00001758" "30" "2538" "0" "2538" "0" "c.2538G>A" "r.(?)" "p.(Pro846=)" "" "0000532310" "00001758" "30" "2004" "0" "2004" "0" "c.2004G>A" "r.(?)" "p.(Pro668=)" "" "0000532311" "00001758" "10" "1896" "0" "1896" "0" "c.1896G>A" "r.(?)" "p.(Lys632=)" "" "0000532312" "00001758" "50" "1586" "0" "1586" "0" "c.1586T>C" "r.(?)" "p.(Leu529Pro)" "" "0000532313" "00001758" "10" "1425" "0" "1425" "0" "c.1425G>A" "r.(?)" "p.(Leu475=)" "" "0000532314" "00001758" "70" "1346" "0" "1346" "0" "c.1346G>A" "r.(?)" "p.(Trp449Ter)" "" "0000532315" "00001758" "30" "1177" "0" "1177" "0" "c.1177A>G" "r.(?)" "p.(Ile393Val)" "" "0000532316" "00001758" "10" "1170" "0" "1170" "0" "c.1170C>T" "r.(?)" "p.(Asp390=)" "" "0000532317" "00001758" "50" "854" "0" "854" "0" "c.854C>T" "r.(?)" "p.(Ser285Leu)" "" "0000532318" "00001758" "50" "623" "0" "623" "0" "c.623T>C" "r.(?)" "p.(Leu208Pro)" "" "0000532319" "00001758" "30" "189" "0" "189" "0" "c.189C>T" "r.(?)" "p.(Val63=)" "" "0000611140" "00001758" "50" "2684" "0" "2684" "0" "c.2684G>A" "r.(?)" "p.(Arg895Gln)" "" "0000611141" "00001758" "50" "1224" "2" "1224" "2" "c.1224+2C>T" "r.spl?" "p.?" "" "0000621908" "00001758" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Pro158Ser)" "" "0000655857" "00001758" "30" "1482" "0" "1482" "0" "c.1482C>T" "r.(?)" "p.(Tyr494=)" "" "0000655859" "00001758" "30" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Pro96Ser)" "" "0000678136" "00001758" "30" "2700" "0" "2700" "0" "c.2700C>T" "r.(?)" "p.(Phe900=)" "" "0000678137" "00001758" "30" "2010" "0" "2010" "0" "c.2010G>T" "r.(?)" "p.(Leu670=)" "" "0000721498" "00001758" "50" "1831" "0" "1831" "0" "c.1831A>G" "r.(?)" "p.(Lys611Glu)" "" "0000721499" "00001758" "30" "1176" "0" "1176" "0" "c.1176C>T" "r.(?)" "p.(Ile392=)" "" "0000721500" "00001758" "30" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Arg262His)" "" "0000721501" "00001758" "50" "761" "0" "761" "0" "c.761G>A" "r.(?)" "p.(Arg254Gln)" "" "0000721502" "00001758" "30" "494" "0" "494" "0" "c.494C>G" "r.(?)" "p.(Ala165Gly)" "" "0000860861" "00001758" "30" "2544" "0" "2544" "0" "c.2544C>T" "r.(?)" "p.(Asn848=)" "" "0000887917" "00001758" "30" "1177" "0" "1177" "0" "c.1177A>G" "r.(?)" "p.(Ile393Val)" "" "0000916860" "00001758" "70" "1860" "0" "1861" "0" "c.1860_1861dup" "r.(?)" "p.(Cys621Serfs*56)" "" "0000924740" "00001758" "30" "2757" "0" "2757" "0" "c.2757G>A" "r.(?)" "p.(Pro919=)" "" "0000929356" "00001758" "50" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" "" "0000929357" "00001758" "50" "1762" "0" "1762" "0" "c.1762G>A" "r.(?)" "p.(Ala588Thr)" "" "0001020155" "00001758" "90" "2056" "0" "2056" "0" "c.2056C>T" "r.(?)" "p.(Arg686Ter)" "" "0001046894" "00001758" "90" "615" "0" "616" "0" "c.615_616del" "r.(?)" "p.(Glu205AspfsTer16)" "" "0001046895" "00001758" "90" "1791" "0" "1791" "0" "c.1791T>A" "r.(?)" "p.(Cys597Ter)" "" "0001046896" "00001758" "90" "2251" "0" "2251" "0" "c.2251C>T" "r.(?)" "p.(Arg751Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002427" "0000431640" "0000916860"