### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C9orf84)
# 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}}"
"C9orf84" "chromosome 9 open reading frame 84" "9" "q32" "unknown" "NC_000009.11" "UD_132465598507" "" "https://www.LOVD.nl/SHOC1" "" "1" "26535" "158401" "618038" "1" "1" "1" "1" "NOTE: gene name changed from C9orf84 to SHOC1.\r\nMANE select transcript NM_001378211.1.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/C9orf84_codingDNA.html" "1" "" "NOTE: gene name changed from C9orf84 to SHOC1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-09-27 14:00:34" "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}}"
"00003882" "C9orf84" "transcript variant 1" "001" "NM_173521.3" "" "NP_775792.3" "" "" "" "-135" "4484" "4335" "114545779" "114448901" "" "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}}"
"00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25"
"05895" "INF" "infertility" "" "" "" "" "" "00006" "2021-02-04 08:41:37" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"C9orf84" "05895"
## 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}}"
"00383172" "" "" "" "2" "" "00006" "{PMID:Yao 2021:32900840}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Fam1"
"00383173" "" "" "" "2" "" "00006" "{PMID:Yao 2021:32900840}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "no" "China" "" "0" "" "" "" "Fam2"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00383172" "00201"
"00383173" "05895"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00201, 05895
## 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}}"
"0000276960" "00201" "00383172" "00006" "Familial, autosomal recessive" "" "see paper; ..., idiopathic non-obstructive azoospermia" "" "" "" "" "" "" "" "" ""
"0000276961" "05895" "00383173" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "infertility"
## 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}}"
"0000384397" "00383172" "1" "00006" "00006" "2021-09-27 13:55:58" "" "" "SEQ;SEQ-NG" "DNA" "WES" ""
"0000384398" "00383173" "1" "00006" "00006" "2021-09-27 14:04:11" "" "" "SEQ;SEQ-NG" "DNA" "WES" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000384398" "C9orf84"
## 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 = 11
"{{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}}"
"0000536033" "0" "50" "9" "114449066" "114449066" "subst" "2.03075E-5" "01943" "C9orf84_000001" "g.114449066C>T" "" "" "" "C9orf84(NM_173521.4):c.4319G>A (p.R1440Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111686786C>T" "" "VUS" ""
"0000536034" "0" "50" "9" "114449073" "114449073" "subst" "3.65512E-5" "01943" "C9orf84_000002" "g.114449073G>A" "" "" "" "C9orf84(NM_173521.4):c.4312C>T (p.Q1438*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111686793G>A" "" "VUS" ""
"0000536035" "0" "50" "9" "114469004" "114469004" "subst" "4.25891E-6" "01943" "C9orf84_000003" "g.114469004G>T" "" "" "" "C9orf84(NM_173521.4):c.2389C>A (p.H797N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111706724G>T" "" "VUS" ""
"0000536036" "0" "30" "9" "114476867" "114476867" "subst" "0.000146495" "01943" "C9orf84_000004" "g.114476867A>G" "" "" "" "C9orf84(NM_173521.4):c.2081T>C (p.I694T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111714587A>G" "" "likely benign" ""
"0000811022" "11" "90" "9" "114489973" "114489973" "subst" "1.25373E-5" "00006" "C9orf84_000005" "g.114489973G>A" "" "{PMID:Yao 2021:32900840}" "" "C1582T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000811023" "21" "90" "9" "114538090" "114538091" "del" "0" "00006" "C9orf84_000006" "g.114538090_114538091del" "" "{PMID:Yao 2021:32900840}" "" "" "" "Germline" "yes" "" "0" "" "" "g.111775810_111775811del" "" "pathogenic (recessive)" ""
"0000811024" "3" "90" "9" "114500591" "114500591" "del" "8.19793E-6" "00006" "C9orf84_000007" "g.114500591del" "" "{PMID:Yao 2021:32900840}" "" "" "" "Germline" "yes" "" "0" "" "1194delA" "g.111738311del" "" "pathogenic (recessive)" ""
"0000861351" "0" "50" "9" "114520419" "114520419" "subst" "3.02745E-5" "01943" "C9orf84_000008" "g.114520419A>G" "" "" "" "SHOC1(NM_173521.4):c.461T>C (p.M154T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000978356" "0" "50" "9" "114456228" "114456228" "subst" "0.000908954" "02325" "C9orf84_000009" "g.114456228C>T" "" "" "" "SHOC1(NM_001378211.1):c.3316G>A (p.E1106K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001025572" "0" "50" "9" "114468959" "114468959" "subst" "4.10512E-6" "02325" "C9orf84_000010" "g.114468959A>G" "" "" "" "SHOC1(NM_001378211.1):c.2626T>C (p.F876L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001037140" "0" "30" "9" "114469024" "114469024" "subst" "5.59331E-5" "01804" "C9orf84_000011" "g.114469024G>A" "" "" "" "SHOC1(NM_001378211.1):c.2561C>T (p.(Thr854Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 C9orf84
## Count = 11
"{{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}}"
"0000536033" "00003882" "50" "4319" "0" "4319" "0" "c.4319G>A" "r.(?)" "p.(Arg1440Gln)" ""
"0000536034" "00003882" "50" "4312" "0" "4312" "0" "c.4312C>T" "r.(?)" "p.(Gln1438Ter)" ""
"0000536035" "00003882" "50" "2389" "0" "2389" "0" "c.2389C>A" "r.(?)" "p.(His797Asn)" ""
"0000536036" "00003882" "30" "2081" "0" "2081" "0" "c.2081T>C" "r.(?)" "p.(Ile694Thr)" ""
"0000811022" "00003882" "90" "1582" "0" "1582" "0" "c.1582C>T" "r.(?)" "p.(Arg528*)" ""
"0000811023" "00003882" "90" "231" "0" "232" "0" "c.231_232del" "r.(?)" "p.(Leu78Serfs*10)" ""
"0000811024" "00003882" "90" "1194" "0" "1194" "0" "c.1194del" "r.(?)" "p.(Leu400Cysfs*8)" ""
"0000861351" "00003882" "50" "461" "0" "461" "0" "c.461T>C" "r.(?)" "p.(Met154Thr)" ""
"0000978356" "00003882" "50" "3124" "0" "3124" "0" "c.3124G>A" "r.(?)" "p.(Glu1042Lys)" ""
"0001025572" "00003882" "50" "2434" "0" "2434" "0" "c.2434T>C" "r.(?)" "p.(Phe812Leu)" ""
"0001037140" "00003882" "30" "2369" "0" "2369" "0" "c.2369C>T" "r.(?)" "p.(Thr790Ile)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{variantid}}"
"0000384397" "0000811022"
"0000384397" "0000811023"
"0000384398" "0000811024"