### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCTD7) # 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}}" "KCTD7" "potassium channel tetramerisation domain containing 7" "7" "q11.21" "unknown" "NG_028110.1" "UD_132118974791" "" "https://www.LOVD.nl/KCTD7" "" "1" "21957" "154881" "611725" "1" "1" "1" "1" "Alias CLN14.\r\nAn NCL gene variant database.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/KCTD7_codingDNA.html" "1" "" "An NCL gene variant database\r\n
\r\n
" "-1" "" "-1" "00001" "2011-07-27 00:00:00" "00006" "2017-04-03 14:03:17" "00000" "2024-08-28 13:16:32" ## 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}}" "00010436" "KCTD7" "transcript variant 1" "001" "NM_153033.4" "" "NP_694578.1" "" "" "" "-184" "4867" "870" "66093868" "66108216" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01329" "FMFD" "fever, Mediterranean, familial, autosomal dominant (FMFD)" "AD" "134610" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03049" "EPM3;CLN14" "epilepsy, myoclonic, progressive, type 3 (EPM-3, neuronal ceroid lipofuscinosis, type 14 (CLN-14))" "AR" "611726" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05258" "CLN" "lipofuscinosis, ceroid, neuronal (CLN)" "" "" "" "" "" "00006" "2017-04-03 15:00:30" "00006" "2017-04-04 08:43:07" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KCTD7" "00139" "KCTD7" "03049" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00050418" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00240407" "" "" "" "2" "" "00006" "{PMID:Fresard 2019:31160820}" "2-generation family, affected sister/brother" "F;M" "" "Canada" "" "0" "" "" "Hispanic" "example 2" "00294490" "" "" "" "67" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303010" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat55" "00307873" "" "" "" "1" "" "03765" "" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "?" "00361591" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "13DG1863" "00361905" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" "00374637" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5954" "00374676" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2377" "00387819" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8700126" "00388289" "" "" "" "1" "" "00000" "{PMID:Kozina 2020:32412666}" "" "M" "no" "Russia" "" "0" "" "" "" "4" "00448514" "" "" "" "1" "" "01164" "" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "284164" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00050418" "00198" "00240407" "05162" "00294490" "00198" "00303010" "05521" "00307873" "03049" "00361591" "00139" "00361905" "01329" "00361905" "03049" "00374637" "00198" "00374676" "00198" "00387819" "00139" "00388289" "05258" "00448514" "03049" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01329, 03049, 05162, 05258, 05521 ## Count = 11 "{{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}}" "0000037030" "00198" "00050418" "00006" "Isolated (sporadic)" "" "seizures, developmental regression, abnormality of the skull, abnormal facial shape, cerebral atrophy" "" "" "" "" "" "" "" "" "" "" "" "0000180471" "05162" "00240407" "00006" "Familial, autosomal dominant" "" "developmental regression after typical development until 18m, manifesting with loss of milestones including head control\r\nand speech; 21m-tremors; 22m-seizures; occasional myoclonus; brother 5y onset 13m ataxia, autism, developmental delay, recurrent febrile seizures, absent speech" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000230093" "05521" "00303010" "00006" "Familial, autosomal recessive" "" "Progressive Myoclonus Epilepsy; age onset childhood" "" "" "" "" "" "" "" "" "" "seizures" "" "0000233297" "03049" "00307873" "03765" "Familial, autosomal recessive" "" "Global developmental delay, Seizures, Abnormal facial shape" "00y01m" "02y02m" "" "" "" "" "" "" "" "" "" "0000256996" "00139" "00361591" "00006" "Familial, autosomal recessive" "0y11m" "not syndromic; Neurodegeneration" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257301" "03049" "00361905" "03219" "Familial, autosomal recessive" "" "Neuroregression, myoclonic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000269847" "00198" "00374637" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, ataxia" "" "0000269886" "00198" "00374676" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "abnormal head and limb movements" "" "0000281387" "00139" "00387819" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly, epilepsy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281844" "05258" "00388289" "00000" "Familial, autosomal recessive" "4y" "Cognitive and motor deterioration, ataxia, epileptic paroxysms, and MRI signs of cerebellar subatrophy" "1y9m" "" "" "" "" "" "" "" "progressive myoclonic epilepsy" "progressive myoclonic epilepsy" "" "0000337691" "03049" "00448514" "01164" "Familial, autosomal recessive" "12y" "Global developmental delay, Intellectual disability, Cerebral palsy, Seizure, Myoclonic seizures, Delayed speech and language development" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050363" "00050418" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000241517" "00240407" "1" "00006" "00006" "2019-06-19 19:16:41" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000295658" "00294490" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304135" "00303010" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000309013" "00307873" "1" "03765" "03765" "2020-08-20 02:19:21" "" "" "SEQ" "DNA" "DBS" "" "0000362819" "00361591" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000363133" "00361905" "1" "03219" "03219" "2021-04-12 07:00:58" "" "" "SEQ-NG" "DNA" "" "" "0000375831" "00374637" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375870" "00374676" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000389050" "00387819" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389530" "00388289" "1" "00000" "03840" "2021-11-03 15:22:26" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000450094" "00448514" "1" "01164" "01164" "2024-03-19 13:53:04" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000050363" "KCTD7" "0000241517" "KCTD7" "0000304135" "KCTD7" "0000309013" "KCTD7" "0000362819" "KCTD7" "0000375831" "KCTD7" "0000375870" "CACNA1H" "0000389050" "KCTD7" "0000389530" "KCTD7" "0000450094" "KCTD7" ## 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 = 35 "{{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}}" "0000079343" "11" "90" "7" "66098307" "66098307" "subst" "6.09523E-5" "00006" "KCTD7_000001" "g.66098307A>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.66633320A>G" "" "pathogenic" "" "0000079651" "21" "90" "7" "66103980" "66103980" "subst" "4.06151E-6" "00006" "KCTD7_000002" "g.66103980C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.66638993C>T" "" "pathogenic" "" "0000252563" "0" "90" "7" "66104167" "66104167" "subst" "0" "02326" "KCTD7_000008" "g.66104167A>T" "" "" "" "KCTD7(NM_153033.4):c.818A>T (p.N273I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66639180A>T" "" "pathogenic" "" "0000283488" "0" "90" "7" "66098412" "66098412" "subst" "4.06144E-6" "02329" "KCTD7_000005" "g.66098412C>T" "" "" "" "KCTD7(NM_153033.4):c.295C>T (p.(Arg99*)), KCTD7(NM_153033.5):c.295C>T (p.R99*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66633425C>T" "" "pathogenic" "" "0000285777" "0" "30" "7" "66105600" "66105600" "del" "0" "02326" "KCTD7_000009" "g.66105600del" "" "" "" "KCTD7(NM_153033.4):c.*1381delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66640613del" "" "likely benign" "" "0000285778" "0" "10" "7" "66103216" "66103216" "subst" "0.0219623" "02326" "KCTD7_000006" "g.66103216C>T" "" "" "" "KCTD7(NM_153033.4):c.315-24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66638229C>T" "" "benign" "" "0000285779" "0" "10" "7" "66104003" "66104003" "subst" "0.0219355" "02326" "KCTD7_000007" "g.66104003C>T" "" "" "" "KCTD7(NM_153033.4):c.654C>T (p.D218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66639016C>T" "" "benign" "" "0000290126" "0" "10" "7" "66098384" "66098384" "subst" "0.104659" "01943" "KCTD7_000003" "g.66098384G>A" "" "" "" "KCTD7(NM_153033.4):c.267G>A (p.T89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66633397G>A" "" "benign" "" "0000290127" "0" "30" "7" "66098390" "66098390" "subst" "0.000332987" "01943" "KCTD7_000004" "g.66098390C>T" "" "" "" "KCTD7(NM_153033.4):c.273C>T (p.S91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66633403C>T" "" "likely benign" "" "0000341739" "0" "50" "7" "66103260" "66103260" "subst" "0" "02327" "KCTD7_000010" "g.66103260G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66638273G>A" "" "VUS" "" "0000342126" "0" "70" "7" "66103900" "66103900" "subst" "8.12883E-6" "02327" "KCTD7_000011" "g.66103900G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66638913G>A" "" "likely pathogenic" "" "0000487520" "1" "90" "7" "66103381" "66103381" "subst" "1.21864E-5" "00006" "KCTD7_000012" "g.66103381G>A" "" "{PMID:Fresard 2019:31160820}" "" "V152V" "variant other allele not reported" "Germline" "" "" "0" "" "" "g.66638394G>A" "" "pathogenic" "" "0000532462" "0" "30" "7" "66098262" "66098262" "subst" "2.03293E-5" "01943" "KCTD7_000013" "g.66098262T>C" "" "" "" "KCTD7(NM_153033.4):c.145T>C (p.F49L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66633275T>C" "" "likely benign" "" "0000532463" "0" "30" "7" "66103309" "66103309" "subst" "0.00142935" "01943" "KCTD7_000014" "g.66103309G>A" "" "" "" "KCTD7(NM_153033.4):c.384G>A (p.E128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66638322G>A" "" "likely benign" "" "0000532464" "0" "30" "7" "66103325" "66103325" "subst" "4.87306E-5" "01943" "KCTD7_000015" "g.66103325A>G" "" "" "" "KCTD7(NM_153033.4):c.400A>G (p.I134V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66638338A>G" "" "likely benign" "" "0000532465" "0" "50" "7" "66103329" "66103329" "subst" "0" "01804" "KCTD7_000016" "g.66103329G>A" "" "" "" "KCTD7(NM_001167961.2):c.404G>A (p.(Gly135Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66638342G>A" "" "VUS" "" "0000611173" "0" "30" "7" "66104036" "66104036" "subst" "0.000182836" "01943" "KCTD7_000017" "g.66104036T>C" "" "" "" "KCTD7(NM_153033.4):c.687T>C (p.D229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66639049T>C" "" "likely benign" "" "0000652347" "1" "30" "7" "66104927" "66104927" "subst" "0" "03575" "KCTD7_000018" "g.66104927C>T" "67/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "67 heterozygous, no homozygous; {DB:CLININrs79736939}" "Germline" "" "rs79736939" "0" "" "" "g.66639940C>T" "" "likely benign" "" "0000667533" "1" "70" "7" "66098260" "66098260" "subst" "0" "00006" "KCTD7_000019" "g.66098260A>G" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "g.66633273A>G" "" "likely pathogenic (recessive)" "ACMG" "0000667589" "2" "70" "7" "66098307" "66098307" "subst" "6.09523E-5" "00006" "KCTD7_000001" "g.66098307A>G" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "g.66633320A>G" "" "likely pathogenic (recessive)" "ACMG" "0000678152" "0" "30" "7" "66103309" "66103309" "subst" "0.00142935" "02326" "KCTD7_000014" "g.66103309G>A" "" "" "" "KCTD7(NM_153033.4):c.384G>A (p.E128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683459" "3" "70" "7" "66103420" "66103424" "del" "0" "03765" "KCTD7_000020" "g.66103420_66103424del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000690053" "0" "50" "7" "66104185" "66104185" "subst" "4.07754E-6" "01943" "KCTD7_000021" "g.66104185G>A" "" "" "" "KCTD7(NM_153033.4):c.836G>A (p.R279H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721521" "0" "50" "7" "66103259" "66103259" "subst" "8.12407E-6" "01943" "KCTD7_000022" "g.66103259C>T" "" "" "" "KCTD7(NM_153033.4):c.334C>T (p.R112C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721522" "0" "30" "7" "66104036" "66104036" "subst" "0.000182836" "02326" "KCTD7_000017" "g.66104036T>C" "" "" "" "KCTD7(NM_153033.4):c.687T>C (p.D229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763193" "3" "90" "7" "66104045" "66104045" "del" "0" "00006" "KCTD7_000023" "g.66104045del" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.66639058del" "" "pathogenic" "ACMG" "0000763569" "3" "70" "7" "66098322" "66098322" "subst" "0" "03219" "KCTD7_000024" "g.66098322C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000787182" "3" "50" "7" "0" "0" "" "0" "00006" "EZH2_000001" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "Large dup" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000787569" "3" "50" "7" "66103383" "66103383" "subst" "4.06263E-6" "00000" "KCTD7_000025" "g.66103383G>C" "" "0" "" "" "" "Germline" "" "rs765235486" "0" "" "" "g.66638396G>C" "" "VUS" "" "0000803221" "0" "30" "7" "66098420" "66098420" "subst" "0" "01943" "KCTD7_000026" "g.66098420C>T" "" "" "" "KCTD7(NM_153033.4):c.303C>T (p.G101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817843" "3" "70" "7" "66098289" "66098289" "subst" "4.06478E-6" "00006" "KCTD7_000027" "g.66098289G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.66633302G>A" "" "likely pathogenic (recessive)" "ACMG" "0000818616" "1" "70" "7" "66098307" "66098307" "subst" "6.09523E-5" "00000" "KCTD7_000001" "g.66098307A>G" "" "{PMID:Kozina 2020:32412666}" "" "c.190A>G, (p.Thr64Ala)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.66633320A>G" "" "likely pathogenic" "" "0000818617" "2" "70" "7" "66103262" "66103262" "subst" "0" "00000" "KCTD7_000028" "g.66103262T>C" "" "{PMID:Kozina 2020:32412666}" "" "c.337T>C, (p.Ser113Pro)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.66638275T>C" "" "likely pathogenic" "" "0000972028" "3" "70" "7" "66103313" "66103313" "subst" "0" "01164" "KCTD7_000029" "g.66103313C>T" "" "" "" "" "ACMG: PVS1, PM2_SUP, PM3_SUP" "Germline" "-" "" "" "" "" "g.66638326C>T" "VCV001405546.4" "pathogenic (recessive)" "ACMG" "0000996625" "0" "90" "7" "66098412" "66098412" "subst" "4.06144E-6" "01804" "KCTD7_000005" "g.66098412C>T" "" "" "" "KCTD7(NM_153033.4):c.295C>T (p.(Arg99*)), KCTD7(NM_153033.5):c.295C>T (p.R99*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 KCTD7 ## Count = 35 "{{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}}" "0000079343" "00010436" "00" "190" "0" "190" "0" "c.190A>G" "r.(?)" "p.(Thr64Ala)" "" "0000079651" "00010436" "00" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211Ter)" "" "0000252563" "00010436" "90" "818" "0" "818" "0" "c.818A>T" "r.(?)" "p.(Asn273Ile)" "" "0000283488" "00010436" "90" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Arg99Ter)" "" "0000285777" "00010436" "30" "2251" "0" "2251" "0" "c.*1381del" "r.(?)" "p.(=)" "" "0000285778" "00010436" "10" "315" "-24" "315" "-24" "c.315-24C>T" "r.(=)" "p.(=)" "" "0000285779" "00010436" "10" "654" "0" "654" "0" "c.654C>T" "r.(?)" "p.(Asp218=)" "" "0000290126" "00010436" "10" "267" "0" "267" "0" "c.267G>A" "r.(?)" "p.(Thr89=)" "" "0000290127" "00010436" "30" "273" "0" "273" "0" "c.273C>T" "r.(?)" "p.(Ser91=)" "" "0000341739" "00010436" "50" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Arg112His)" "" "0000342126" "00010436" "70" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "" "0000487520" "00010436" "90" "456" "0" "456" "0" "c.456G>A" "r.[0, 454_493del]" "p.[0,Val152fs]" "" "0000532462" "00010436" "30" "145" "0" "145" "0" "c.145T>C" "r.(?)" "p.(Phe49Leu)" "" "0000532463" "00010436" "30" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.(Glu128=)" "" "0000532464" "00010436" "30" "400" "0" "400" "0" "c.400A>G" "r.(?)" "p.(Ile134Val)" "" "0000532465" "00010436" "50" "404" "0" "404" "0" "c.404G>A" "r.(?)" "p.(Gly135Glu)" "" "0000611173" "00010436" "30" "687" "0" "687" "0" "c.687T>C" "r.(?)" "p.(Asp229=)" "" "0000652347" "00010436" "30" "1578" "0" "1578" "0" "c.*708C>T" "r.(=)" "p.(=)" "" "0000667533" "00010436" "70" "145" "-2" "145" "-2" "c.145-2A>G" "r.spl" "p.?" "" "0000667589" "00010436" "70" "190" "0" "190" "0" "c.190A>G" "r.(?)" "p.(Thr64Ala)" "" "0000678152" "00010436" "30" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.(Glu128=)" "" "0000683459" "00010436" "70" "493" "2" "493" "6" "c.493+2_493+6del" "r.spl?" "p.?" "3" "0000690053" "00010436" "50" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279His)" "" "0000721521" "00010436" "50" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Arg112Cys)" "" "0000721522" "00010436" "30" "687" "0" "687" "0" "c.687T>C" "r.(?)" "p.(Asp229=)" "" "0000763193" "00010436" "90" "696" "0" "696" "0" "c.696del" "r.(?)" "p.(Phe232Leufs*41)" "" "0000763569" "00010436" "70" "205" "0" "205" "0" "c.205C>G" "r.(?)" "p.(Leu69Val)" "" "0000787182" "00010436" "50" "3151" "0" "4867" "0" "c.(314+1_3151)_(*3997_?)dup" "r.?" "p.?" "2i_4_" "0000787569" "00010436" "50" "458" "0" "458" "0" "c.458G>C" "r.(?)" "p.(Arg153Pro)" "3" "0000803221" "00010436" "30" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Gly101=)" "" "0000817843" "00010436" "70" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Gly58Arg)" "" "0000818616" "00010436" "70" "190" "0" "190" "0" "c.190A>G" "r.(?)" "(p.Thr64Ala)" "" "0000818617" "00010436" "70" "337" "0" "337" "0" "c.337T>C" "r.(?)" "(p.Ser113Pro)" "" "0000972028" "00010436" "70" "388" "0" "388" "0" "c.388C>T" "r.?" "p.(Gln130*)" "3" "0000996625" "00010436" "90" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Arg99Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000050363" "0000079343" "0000050363" "0000079651" "0000241517" "0000487520" "0000295658" "0000652347" "0000304135" "0000667533" "0000304135" "0000667589" "0000309013" "0000683459" "0000362819" "0000763193" "0000363133" "0000763569" "0000375831" "0000787182" "0000375870" "0000787569" "0000389050" "0000817843" "0000389530" "0000818616" "0000389530" "0000818617" "0000450094" "0000972028"