### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNF212) # 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}}" "RNF212" "ring finger protein 212" "4" "p16.3" "unknown" "NG_027812.2" "UD_132118756843" "" "" "" "1" "27729" "285498" "612041" "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" "2022-04-13 11:45:23" "00000" "2022-05-09 15:24:52" ## 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}}" "00017936" "RNF212" "transcript variant 2" "001" "NM_194439.4" "" "NP_919420.1" "" "" "" "-100" "2237" "699" "1107352" "1065266" "" "0000-00-00 00:00:00" "" "" "00025705" "RNF212" "transcript variant 1" "003" "NM_001131034.3" "" "NP_001124506.1" "" "" "" "-100" "2290" "894" "1107352" "1065266" "00006" "2022-04-13 11:46:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "03082" "RRQTL1" "recombination rate quantitative trait locus 1 (RRQTL-1)" "" "612042" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "06919" "SPGF62" "spermatogenic failure, type 62" "AR" "619673" "" "" "" "00006" "2022-04-13 11:44:54" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "RNF212" "03082" "RNF212" "05562" "RNF212" "06919" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00050680" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00050680" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03082, 05562, 06919 ## Count = 1 "{{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}}" "0000037292" "00198" "00050680" "00006" "Unknown" "" "intrauterine growth retardation, febrile seizures, feeding difficulties in infancy, microcephaly, global developmental delay, deeply set eye, flat nose, shoulder dimples, skin dimples, macrotia, inverted nipples, pes planus, 2-3 toe syndactyly" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050625" "00050680" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 7 "{{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}}" "0000079605" "0" "90" "4" "71552" "3375637" "del" "0" "00006" "IDUA_000000" "g.71552_3375637del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000297689" "0" "10" "4" "1090625" "1090625" "subst" "0.638576" "02325" "RNF212_000005" "g.1090625G>A" "" "" "" "RNF212(NM_001131034.4):c.174C>T (p.T58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1096837G>A" "" "benign" "" "0000297690" "0" "10" "4" "1075271" "1075271" "subst" "0.149944" "02325" "RNF212_000001" "g.1075271C>T" "" "" "" "RNF212(NM_001131034.4):c.416-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1081483C>T" "" "benign" "" "0000297691" "0" "10" "4" "1087338" "1087338" "subst" "0.745921" "02325" "RNF212_000003" "g.1087338C>T" "" "" "" "RNF212(NM_001193318.3):c.711G>A (p.G237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1093550C>T" "" "benign" "" "0000307169" "0" "30" "4" "1087514" "1087514" "subst" "0.000326956" "01943" "RNF212_000004" "g.1087514T>C" "" "" "" "RNF212(NM_001193318.2):c.535A>G (p.I179V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1093726T>C" "" "likely benign" "" "0000521135" "0" "10" "4" "1087265" "1087265" "subst" "0.710309" "02325" "RNF212_000006" "g.1087265T>C" "" "" "" "RNF212(NM_001193318.3):c.784A>G (p.I262V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1093477T>C" "" "benign" "" "0000521136" "0" "10" "4" "1087327" "1087328" "ins" "0" "01943" "RNF212_000007" "g.1087327_1087328insCTGCCCAGGCTGGAGCCAGCC" "" "" "" "RNF212(NM_001193318.2):c.721_722insGGCTGGCTCCAGCCTGGGCAG (p.S241delins8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1093539_1093540insCTGCCCAGGCTGGAGCCAGCC" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RNF212 ## Count = 14 "{{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}}" "0000079605" "00017936" "00" "-2268385" "0" "995951" "0" "c.-2268385_*995252del" "r.0?" "p.0?" "" "0000079605" "00025705" "90" "-2268385" "0" "996004" "0" "c.-2268385_*995110del" "r.0?" "p.0?" "" "0000297689" "00017936" "10" "174" "0" "174" "0" "c.174C>T" "r.(?)" "p.(Thr58=)" "" "0000297689" "00025705" "10" "174" "0" "174" "0" "c.174C>T" "r.(?)" "p.(Thr58=)" "" "0000297690" "00017936" "10" "416" "-16" "416" "-16" "c.416-16G>A" "r.(=)" "p.(=)" "" "0000297690" "00025705" "10" "416" "-16" "416" "-16" "c.416-16G>A" "r.(=)" "p.(=)" "" "0000297691" "00017936" "10" "247" "-2712" "247" "-2712" "c.247-2712G>A" "r.(=)" "p.(=)" "" "0000297691" "00025705" "10" "247" "-2712" "247" "-2712" "c.247-2712G>A" "r.(=)" "p.(=)" "" "0000307169" "00017936" "30" "247" "-2888" "247" "-2888" "c.247-2888A>G" "r.(=)" "p.(=)" "" "0000307169" "00025705" "30" "247" "-2888" "247" "-2888" "c.247-2888A>G" "r.(=)" "p.(=)" "" "0000521135" "00017936" "10" "247" "-2639" "247" "-2639" "c.247-2639A>G" "r.(=)" "p.(=)" "" "0000521135" "00025705" "10" "247" "-2639" "247" "-2639" "c.247-2639A>G" "r.(=)" "p.(=)" "" "0000521136" "00017936" "10" "247" "-2702" "247" "-2701" "c.247-2702_247-2701insGGCTGGCTCCAGCCTGGGCAG" "r.(=)" "p.(=)" "" "0000521136" "00025705" "10" "247" "-2702" "247" "-2701" "c.247-2702_247-2701insGGCTGGCTCCAGCCTGGGCAG" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000050625" "0000079605"