### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C3orf17)
# 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}}"
"C3orf17" "chromosome 3 open reading frame 17" "3" "q13.2" "unknown" "NC_000003.11" "UD_132610642013" "" "https://www.LOVD.nl/RMP64" "" "1" "24496" "25871" "617089" "1" "1" "1" "1" "Alias C3orf17, NEPRO.\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/C3orf17_codingDNA.html" "1" "" "NOTE: gene name changed from C3orf17 to RMP64" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-11-20 10:56:54" "00006" "2025-11-20 15:20:23"
## 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}}"
"00003705" "C3orf17" "transcript variant 1" "003" "NM_015412.3" "" "NP_056227.2" "" "" "" "-61" "4796" "1704" "112738555" "112721291" "" "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}}"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" ""
"06603" "ANXD3" "Anauxetic dysplasia 3" "AR" "618853" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"C3orf17" "06603"
## Individuals ## Do not remove or alter this header ##
## Count = 4
"{{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}}"
"00301741" "" "" "" "2" "" "00006" "{PMID:Maddirevula 2019:30237576}, {PMID:Maddirevula 2018:29620724}" "family, 2 affected (F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "15DG2238;15DG0764, 15DG0765"
"00331519" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2M)" "M" "yes" "" "" "0" "" "" "Arab" "15DG2238 , 15DG2239"
"00395614" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-3055"
"00469799" "" "" "" "1" "" "00006" "{PMID:Narayanan 2019:31250547}, {PMID:Jacob 2025:39706863}" "5-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "India" "" "0" "" "" "" "patient;?"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}" "{{diseaseid}}"
"00301741" "05517"
"00331519" "05517"
"00395614" "04214"
"00469799" "05517"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04214, 05517, 06603
## Count = 4
"{{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}}"
"0000249711" "05517" "00331519" "00000" "Familial, autosomal recessive" "" "Feeding difficulties, Inguinal hernia, Neonatal hypotonia, Recurrent aspiration pneumonia, No" "" "" "" "" "" "" "" "" "skeletal dysplasia"
"0000249793" "05517" "00301741" "00006" "Familial, autosomal recessive" "" "Neonatal hypotonia, Cutis laxa, Global developmental delay, Kyphosis, Joint laxity" "" "" "" "" "" "" "" "skeletal dysplasia" "skeletal dysplasia"
"0000288812" "04214" "00395614" "00000" "Familial, autosomal dominant" "" "cataract, glaucoma, rod-cone dystrophy, severe myopia, conductive hearing impairment, intellectual disability, renal atrophy, renal insufficiency" "" "" "" "" "" "" "" "retinitis pigmentosa, intellectual disability, renal abnormalities" ""
"0000354944" "05517" "00469799" "00006" "Familial, autosomal recessive" "06y" "see paper; ..., short stature, bilateral genu valga; high anterior hairline, sparse scalp hair, broad medially sparse eyebrows, retrognathia; hands/feet short, mild hypoplastic nails; elbows cubitus valgus with limited extension" "" "" "" "" "" "" "" "ANXD3" "skeletal dysplasia"
## Screenings ## Do not remove or alter this header ##
## Count = 4
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000302865" "00301741" "1" "00006" "00006" "2020-05-22 17:54:56" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000332738" "00331519" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000396852" "00395614" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing"
"0000471467" "00469799" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{geneid}}"
"0000302865" "C3orf17"
"0000332738" "C3orf17"
"0000396852" "IMPG2"
## 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 = 15
"{{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}}"
"0000303015" "0" "50" "3" "112736369" "112736369" "subst" "0" "01943" "C3orf17_000001" "g.112736369C>T" "" "" "" "NEPRO(NM_015412.4):c.187G>A (p.D63N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113017522C>T" "" "VUS" ""
"0000517417" "0" "30" "3" "112727222" "112727222" "subst" "0.0159931" "01804" "C3orf17_000002" "g.112727222G>T" "" "" "" "C3orf17(NM_015412.3):c.1031C>A (p.(Ser344Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113008375G>T" "" "likely benign" ""
"0000666222" "3" "70" "3" "112732861" "112732861" "subst" "4.06171E-6" "00006" "C3orf17_000004" "g.112732861G>A" "" "{PMID:Maddirevula 2019:30237576}, {PMID:Maddirevula 2018:29620724}" "" "" "ACMG PS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.113014014G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000730020" "3" "90" "3" "112732861" "112732861" "subst" "4.06171E-6" "00000" "C3orf17_000004" "g.112732861G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_015412.3:c.280C>T:p.(Arg94Cys)" "" "Germline" "" "" "0" "" "" "g.113014014G>A" "" "pathogenic (recessive)" ""
"0000800889" "0" "50" "3" "112732180" "112732180" "subst" "0" "02327" "C3orf17_000005" "g.112732180T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000828551" "0" "50" "3" "97483365" "113953480" "del" "0" "00000" "IMPG2_000140" "g.97483365_113953480del" "" "{PMID:Perea-Romero 2021:34448047}" "" "chr3, g.97483365_113953480del, arr([GRCh37] 3q11.2q13.31(97483365_113953480)x1), heterozygous" "no gene indicated in publication!" "Unknown" "?" "" "0" "" "" "g.97764521_114234636del" "" "VUS" "ACMG"
"0000885478" "0" "70" "3" "112732861" "112732861" "subst" "4.06171E-6" "02325" "C3orf17_000004" "g.112732861G>A" "" "" "" "NEPRO(NM_015412.4):c.280C>T (p.R94C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000947986" "0" "30" "3" "112736411" "112736411" "subst" "0.0104364" "01804" "C3orf17_000006" "g.112736411C>T" "" "" "" "C3orf17(NM_015412.3):c.145G>A (p.(Val49Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000947987" "0" "30" "3" "112738411" "112738411" "subst" "0.00237968" "01804" "C3orf17_000007" "g.112738411C>T" "" "" "" "C3orf17(NM_015412.3):c.84G>A (p.(Val28=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000962399" "0" "30" "3" "112724661" "112724661" "subst" "0.0372589" "01804" "C3orf17_000008" "g.112724661T>C" "" "" "" "C3orf17(NM_015412.3):c.1426A>G (p.(Thr476Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000962400" "0" "30" "3" "112727199" "112727199" "subst" "0.0371162" "01804" "C3orf17_000009" "g.112727199G>A" "" "" "" "C3orf17(NM_015412.3):c.1054C>T (p.(Pro352Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000975499" "0" "30" "3" "112727040" "112727040" "subst" "0.000166558" "01804" "C3orf17_000010" "g.112727040G>A" "" "" "" "NEPRO(NM_015412.4):c.1213C>T (p.(His405Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001033572" "0" "50" "3" "112727049" "112727049" "subst" "0.00019094" "01804" "C3orf17_000011" "g.112727049G>A" "" "" "" "NEPRO(NM_015412.4):c.1204C>T (p.(Arg402Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001051443" "0" "30" "3" "112736287" "112736287" "subst" "4.89133E-5" "01804" "C3orf17_000012" "g.112736287T>C" "" "" "" "NEPRO(NM_015412.4):c.261+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001059615" "3" "70" "3" "112732157" "112732157" "subst" "0" "00006" "C3orf17_000013" "g.112732157C>G" "" "{PMID:Narayanan 2019:31250547}, {PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.113013310C>G" "SCV002507193.1" "likely pathogenic (recessive)" ""
## 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 C3orf17
## Count = 15
"{{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}}"
"0000303015" "00003705" "50" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Asp63Asn)" ""
"0000517417" "00003705" "30" "1031" "0" "1031" "0" "c.1031C>A" "r.(?)" "p.(Ser344Tyr)" ""
"0000666222" "00003705" "70" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Cys)" ""
"0000730020" "00003705" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Cys)" ""
"0000800889" "00003705" "50" "412" "0" "412" "0" "c.412A>G" "r.(?)" "p.(Lys138Glu)" ""
"0000828551" "00003705" "50" "-1214986" "0" "8388607" "0" "c.-1214986_*15241018del" "r.0?" "p.0?" ""
"0000885478" "00003705" "70" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Cys)" ""
"0000947986" "00003705" "30" "145" "0" "145" "0" "c.145G>A" "r.(?)" "p.(Val49Ile)" ""
"0000947987" "00003705" "30" "84" "0" "84" "0" "c.84G>A" "r.(?)" "p.(=)" ""
"0000962399" "00003705" "30" "1426" "0" "1426" "0" "c.1426A>G" "r.(?)" "p.(Thr476Ala)" ""
"0000962400" "00003705" "30" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Pro352Ser)" ""
"0000975499" "00003705" "30" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(His405Tyr)" ""
"0001033572" "00003705" "50" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Trp)" ""
"0001051443" "00003705" "30" "261" "8" "261" "8" "c.261+8A>G" "r.(=)" "p.(=)" ""
"0001059615" "00003705" "70" "435" "0" "435" "0" "c.435G>C" "r.(?)" "p.(Leu145Phe)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}" "{{variantid}}"
"0000302865" "0000666222"
"0000332738" "0000730020"
"0000396852" "0000828551"
"0000471467" "0001059615"