### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C14orf101)
# 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}}"
"C14orf101" "chromosome 14 open reading frame 101" "14" "q22.2" "unknown" "NC_000014.8" "UD_132319789188" "" "https://www.LOVD.nl/TMEM260" "" "1" "20185" "54916" "617449" "1" "1" "1" "1" "NOTE: gene name changed from C14orf101 to TMEM260" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "1" "" "NOTE: gene name changed from C14orf101 to TMEM260" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-03-13 18:42:27" "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}}"
"00004025" "C14orf101" "chromosome 14 open reading frame 101" "001" "NM_017799.3" "" "NP_060269.3" "" "" "" "-122" "4142" "2124" "57046511" "57116233" "" "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"
"05905" "SHDRA" "heart defects, structural, and renal anomalies syndrome (SHDRA)" "AR" "617478" "" "" "" "00006" "2021-03-13 18:48:20" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"C14orf101" "05905"
## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00228275" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" ""
"00358822" "" "" "" "3" "" "00006" "{PMID:Ta-Sham 2017:28318500}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Israel" "2m" "0" "" "" "Jewish-Ashkenazi" "Fam1PatII1"
"00358823" "" "" "00358822" "1" "" "00006" "{PMID:Ta-Sham 2017:28318500}" "" "F" "yes" "Israel" "1m15d" "0" "" "" "Jewish-Ashkenazi" "Fam1PatII2"
"00358824" "" "" "00358822" "1" "" "00006" "{PMID:Ta-Sham 2017:28318500}" "" "M" "yes" "Israel" ">2y" "0" "" "" "Jewish-Ashkenazi" "Fam1PatII3"
"00358825" "" "" "" "2" "" "00006" "{PMID:Ta-Sham 2017:28318500}" "2-generation family, affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Israel" "01y" "0" "" "" "Jewish-Ashkenazi" "Fam2PatII4"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}" "{{diseaseid}}"
"00228275" "00198"
"00358822" "00198"
"00358823" "00198"
"00358824" "00198"
"00358825" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 05905
## Count = 5
"{{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}}"
"0000172210" "00198" "00228275" "01807" "Unknown" "" "HP:0001660 (Truncus arteriosus)" "" "" "" "" "" "" "" "" "" "" ""
"0000254037" "00198" "00358822" "00006" "Familial, autosomal recessive" "2m" "2m-deceased; ventricular septal defect; systolic murmur; truncus arteriosus; no tetralogy of Fallot; interrupted aortic arch; no right aortic arch; no tricuspid valve atresia; no persistent left superior vena cava; partial anomalous pulmonary venous return; agenesis of corpus callosum; no microcephaly; elevated creatinine levels (1.3 mg/dL); oliguria; no renal cysts; no polydactyly; no overriding toes; generalized edema" "" "" "" "" "" "" "" "" "" "" ""
"0000254038" "00198" "00358823" "00006" "Familial, autosomal recessive" "1m15d" "1.5m-deceased; ventricular septal defect; systolic murmur; truncus arteriosus; no tetralogy of Fallot; no interrupted aortic arch; right aortic arch; tricuspid valve atresia; persistent left superior vena cava; no partial anomalous pulmonary venous return; agenesis of corpus callosum; no microcephaly; elevated (1.3 mg/dL); anuria; no renal cysts; polydactyly; no overriding toes; edema, cyanosis, low-set ears, bilateral preauricular skin tags, webbed neck" "" "" "" "" "" "" "" "" "" "" ""
"0000254039" "00198" "00358824" "00006" "Familial, autosomal recessive" "2y" "ventricular septal defect, atrial septal defect; systolic murmur; no truncus arteriosus; no tetralogy of Fallot; no interrupted aortic arch; no right aortic arch; no tricuspid valve atresia; no persistent left superior vena cava; no partial anomalous pulmonary venous return; no agenesis of corpus callosum; no microcephaly; renal cysts; no polydactyly; overriding toes; facial port wine nevus, undescended right testis" "" "" "" "" "" "" "" "" "" "" ""
"0000254040" "00198" "00358825" "00006" "Familial, autosomal recessive" "1y" "1y-deceased; ventricular septal defect; systolic murmur; no truncus arteriosus; tetralogy of Fallot, pulmonic atresia, major aortopulmonary collateral arteries; no interrupted aortic arch; no right aortic arch; no tricuspid valve atresia; no persistent left superior vena cava; no partial anomalous pulmonary venous return; microcephaly; elevated creatinine levels (1.93 mg/dL); no renal cysts; no polydactyly; no overriding toes; generalized edema, cyanosis, facial dysmorphism, hypotonia" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000229365" "00228275" "1" "01807" "01807" "2019-03-22 15:55:29" "" "" "SEQ" "DNA" "" ""
"0000360052" "00358822" "1" "00006" "00006" "2021-03-14 09:54:57" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360053" "00358823" "1" "00006" "00006" "2021-03-14 09:54:57" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360054" "00358824" "1" "00006" "00006" "2021-03-14 09:54:57" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360055" "00358825" "1" "00006" "00006" "2021-03-14 09:54:57" "" "" "SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}" "{{geneid}}"
"0000360052" "C14orf101"
"0000360053" "C14orf101"
"0000360054" "C14orf101"
"0000360055" "C14orf101"
## 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 = 23
"{{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}}"
"0000470551" "3" "90" "14" "57075908" "57075908" "dup" "0" "01807" "C14orf101_000001" "g.57075908dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.56609190dup" "" "pathogenic" ""
"0000552700" "0" "30" "14" "57051753" "57051753" "subst" "4.09947E-6" "01804" "C14orf101_000002" "g.57051753A>G" "" "" "" "TMEM260(NM_017799.3):c.192+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56585035A>G" "" "likely benign" ""
"0000552701" "0" "50" "14" "57070568" "57070568" "subst" "2.0312E-5" "01943" "C14orf101_000003" "g.57070568C>T" "" "" "" "TMEM260(NM_017799.4):c.380C>T (p.A127V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56603850C>T" "" "VUS" ""
"0000552702" "0" "50" "14" "57070588" "57070588" "subst" "0.000109698" "01943" "C14orf101_000004" "g.57070588C>T" "" "" "" "TMEM260(NM_017799.4):c.400C>T (p.R134C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56603870C>T" "" "VUS" ""
"0000552703" "0" "30" "14" "57088320" "57088320" "subst" "3.66199E-5" "01804" "C14orf101_000005" "g.57088320A>T" "" "" "" "TMEM260(NM_017799.3):c.1298A>T (p.(Asp433Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56621602A>T" "" "likely benign" ""
"0000552704" "0" "50" "14" "57088394" "57088394" "subst" "0" "01804" "C14orf101_000006" "g.57088394C>A" "" "" "" "TMEM260(NM_017799.3):c.1372C>A (p.(Pro458Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56621676C>A" "" "VUS" ""
"0000552705" "0" "30" "14" "57114193" "57114193" "subst" "0.000279618" "01804" "C14orf101_000007" "g.57114193T>C" "" "" "" "TMEM260(NM_017799.3):c.2102T>C (p.(Leu701Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56647475T>C" "" "likely benign" ""
"0000759730" "3" "90" "14" "57088415" "57088415" "subst" "7.16175E-5" "00006" "C14orf101_000008" "g.57088415C>T" "" "{PMID:Ta-Sham 2017:28318500}" "" "" "" "Germline" "" "" "0" "" "" "g.56621697C>T" "" "pathogenic (recessive)" ""
"0000759731" "3" "90" "14" "57088415" "57088415" "subst" "7.16175E-5" "00006" "C14orf101_000008" "g.57088415C>T" "" "{PMID:Ta-Sham 2017:28318500}" "" "" "" "Germline" "" "" "0" "" "" "g.56621697C>T" "" "pathogenic (recessive)" ""
"0000759732" "3" "90" "14" "57088415" "57088415" "subst" "7.16175E-5" "00006" "C14orf101_000008" "g.57088415C>T" "" "{PMID:Ta-Sham 2017:28318500}" "" "" "" "Germline" "" "" "0" "" "" "g.56621697C>T" "" "pathogenic (recessive)" ""
"0000759733" "3" "90" "14" "57099863" "57099866" "del" "0" "00006" "C14orf101_000009" "g.57099863_57099866del" "" "{PMID:Ta-Sham 2017:28318500}" "" "" "" "Germline" "" "" "0" "" "" "g.56633145_56633148del" "" "pathogenic (recessive)" ""
"0000853842" "0" "10" "14" "57099859" "57099859" "subst" "0.711809" "02326" "C14orf101_000010" "g.57099859G>A" "" "" "" "TMEM260(NM_017799.4):c.1694G>A (p.S565N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000853843" "0" "70" "14" "57099863" "57099866" "del" "0" "02325" "C14orf101_000009" "g.57099863_57099866del" "" "" "" "TMEM260(NM_017799.4):c.1698_1701delCTAT (p.Y567Tfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000891813" "0" "10" "14" "57099859" "57099859" "subst" "0.711809" "02325" "C14orf101_000010" "g.57099859G>A" "" "" "" "TMEM260(NM_017799.4):c.1694G>A (p.S565N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000980934" "0" "50" "14" "57046780" "57046780" "subst" "0.000232739" "01804" "C14orf101_000011" "g.57046780G>A" "" "" "" "TMEM260(NM_017799.4):c.148G>A (p.(Gly50Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980935" "0" "30" "14" "57075976" "57075976" "subst" "0.00146647" "01804" "C14orf101_000012" "g.57075976C>T" "" "" "" "TMEM260(NM_017799.4):c.789C>T (p.(Leu263=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980936" "0" "50" "14" "57088364" "57088364" "subst" "8.1487E-5" "01804" "C14orf101_000013" "g.57088364C>T" "" "" "" "TMEM260(NM_017799.4):c.1342C>T (p.(Arg448Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980937" "0" "50" "14" "57099791" "57099791" "dup" "0" "01804" "C14orf101_000014" "g.57099791dup" "" "" "" "TMEM260(NM_017799.4):c.1626dup (p.(Ser543Valfs*3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001001041" "0" "30" "14" "57046768" "57046768" "subst" "0.00051282" "01804" "C14orf101_000015" "g.57046768C>A" "" "" "" "TMEM260(NM_017799.3):c.136C>A (p.(Pro46Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001001042" "0" "30" "14" "57114046" "57114046" "subst" "0.000117834" "01804" "C14orf101_000016" "g.57114046G>A" "" "" "" "TMEM260(NM_017799.3):c.1955G>A (p.(Arg652His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001040009" "0" "50" "14" "57052512" "57052513" "ins" "0" "01804" "C14orf101_000017" "g.57052512_57052513insCACAACCTTCTAACTGTTGCTAATTTTTCCGTAGGTTGCCCATCCTCCTGGCTATCCTTTGTTCACGC" "" "" "" "TMEM260(NM_017799.4):c.226_227insCACAACCTTCTAACTGTTGCTAATTTTTCCGTAGGTTGCCCATCCTCCTGGCTATCCTTTGTTCACGC (p.(Leu76Profs*8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001040010" "0" "30" "14" "57052554" "57052554" "subst" "5.28125E-5" "01804" "C14orf101_000018" "g.57052554A>G" "" "" "" "TMEM260(NM_017799.4):c.268A>G (p.(Ile90Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001040011" "0" "30" "14" "57085487" "57085487" "subst" "8.16953E-6" "01804" "C14orf101_000019" "g.57085487A>T" "" "" "" "TMEM260(NM_017799.4):c.1226+6A>T" "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 C14orf101
## Count = 23
"{{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}}"
"0000470551" "00004025" "90" "721" "0" "721" "0" "c.721dup" "r.(?)" "p.Tyr241Leufs*3" ""
"0000552700" "00004025" "30" "192" "3" "192" "3" "c.192+3A>G" "r.spl?" "p.?" ""
"0000552701" "00004025" "50" "380" "0" "380" "0" "c.380C>T" "r.(?)" "p.(Ala127Val)" ""
"0000552702" "00004025" "50" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Arg134Cys)" ""
"0000552703" "00004025" "30" "1298" "0" "1298" "0" "c.1298A>T" "r.(?)" "p.(Asp433Val)" ""
"0000552704" "00004025" "50" "1372" "0" "1372" "0" "c.1372C>A" "r.(?)" "p.(Pro458Thr)" ""
"0000552705" "00004025" "30" "2102" "0" "2102" "0" "c.2102T>C" "r.(?)" "p.(Leu701Pro)" ""
"0000759730" "00004025" "90" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Gln465*)" ""
"0000759731" "00004025" "90" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Gln465*)" ""
"0000759732" "00004025" "90" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Gln465*)" ""
"0000759733" "00004025" "90" "1698" "0" "1701" "0" "c.1698_1701del" "r.(?)" "p.(Tyr567Thrfs*27)" ""
"0000853842" "00004025" "10" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.(Ser565Asn)" ""
"0000853843" "00004025" "70" "1698" "0" "1701" "0" "c.1698_1701del" "r.(?)" "p.(Tyr567Thrfs*27)" ""
"0000891813" "00004025" "10" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.(Ser565Asn)" ""
"0000980934" "00004025" "50" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Gly50Arg)" ""
"0000980935" "00004025" "30" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(=)" ""
"0000980936" "00004025" "50" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Cys)" ""
"0000980937" "00004025" "50" "1626" "0" "1626" "0" "c.1626dup" "r.(?)" "p.(Ser543Valfs*3)" ""
"0001001041" "00004025" "30" "136" "0" "136" "0" "c.136C>A" "r.(?)" "p.(Pro46Thr)" ""
"0001001042" "00004025" "30" "1955" "0" "1955" "0" "c.1955G>A" "r.(?)" "p.(Arg652His)" ""
"0001040009" "00004025" "50" "226" "0" "227" "0" "c.226_227insCACAACCTTCTAACTGTTGCTAATTTTTCCGTAGGTTGCCCATCCTCCTGGCTATCCTTTGTTCACGC" "r.(?)" "p.(Leu76Profs*8)" ""
"0001040010" "00004025" "30" "268" "0" "268" "0" "c.268A>G" "r.(?)" "p.(Ile90Val)" ""
"0001040011" "00004025" "30" "1226" "6" "1226" "6" "c.1226+6A>T" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}" "{{variantid}}"
"0000229365" "0000470551"
"0000360052" "0000759730"
"0000360053" "0000759731"
"0000360054" "0000759732"
"0000360055" "0000759733"