### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TMEM8C)
# 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}}"
"TMEM8C" "transmembrane protein 8C" "9" "q34.2" "unknown" "NC_000009.11" "UD_132610779512" "" "https://www.LOVD.nl/MYMK" "" "1" "33778" "389827" "615345" "1" "1" "1" "1" "NOTE: gene name changed from TMEM8C to MYMK\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from TMEM8C to MYMK" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-29 10:19:52" "00000" "2025-11-01 13:22:20"
## 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}}"
"00021256" "TMEM8C" "transmembrane protein 8C" "001" "NM_001080483.2" "" "NP_001073952.1" "" "" "" "-102" "716" "666" "136390068" "136379708" "" "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}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" ""
"05678" "CFZS" "Carey-Fineman-Ziter syndrome (CFZS)" "AR" "254940" "" "" "" "00006" "2019-12-29 10:22:10" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"TMEM8C" "05678"
## Individuals ## Do not remove or alter this header ##
## Count = 18
"{{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}}"
"00269292" "" "" "" "1" "" "03480" "PMID: 32333597 DOI: 10.3233/JND-200477" "" "M" "no" "" ">03y" "0" "" "" "" "03480"
"00274325" "" "" "" "2" "" "00006" "{PMID:Di Gioia 2017:28681861}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "" "United States" "37y" "0" "" "" "white" "Fam1Pat1"
"00274326" "" "" "00274325" "1" "" "00006" "{PMID:Di Gioia 2017:28681861}" "" "M" "" "United States" "" "0" "" "" "white" "Fam1Pat2"
"00274327" "" "" "" "2" "" "00006" "{PMID:Di Gioia 2017:28681861}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "" "New Zealand" "" "0" "" "" "white" "Fam2Pat3"
"00274328" "" "" "00274327" "1" "" "00006" "{PMID:Di Gioia 2017:28681861}" "" "M" "" "New Zealand" "" "0" "" "" "white" "Fam2Pat4"
"00274329" "" "" "" "2" "" "00006" "{PMID:Di Gioia 2017:28681861}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "white" "Fam3Pat5"
"00274330" "" "" "00274329" "1" "" "00006" "{PMID:Di Gioia 2017:28681861}" "" "F" "" "United States" "" "0" "" "" "white" "Fam3Pat6"
"00274331" "" "" "" "1" "" "00006" "{PMID:Di Gioia 2017:28681861}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "white" "Fam4Pat7"
"00274332" "" "" "" "2" "" "00006" "{PMID:Di Gioia 2017:28681861}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "yes" "Brazil" "" "0" "" "" "white, Indian, African" "Fam5Pat8"
"00274346" "" "" "" "2" "" "00006" "{PMID:Johansen 2016:27616480}" "3-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives" "F" "yes" "Jordan" "" "0" "" "" "" "Fam4PatIII1"
"00274347" "" "" "00274346" "1" "" "00006" "{PMID:Johansen 2016:27616480}" "" "F" "yes" "Jordan" "" "0" "" "" "" "Fam4PatIII2"
"00274348" "" "" "" "2" "" "00006" "{PMID:Johansen 2016:27616480}" "3-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives" "F" "yes" "Iraq" "" "0" "" "" "" "Fam5PatIII1"
"00274349" "" "" "00274348" "1" "" "00006" "{PMID:Johansen 2016:27616480}" "" "F" "yes" "Iraq" "" "0" "" "" "" "Fam5PatIII3"
"00274350" "" "" "" "4" "" "00006" "{PMID:Johansen 2016:27616480}" "3-generation family, 3 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam6PatIII3"
"00274351" "" "" "00274350" "1" "" "00006" "{PMID:Johansen 2016:27616480}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam6PatIII4"
"00274352" "" "" "00274350" "1" "" "00006" "{PMID:Johansen 2016:27616480}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam6PatIII7"
"00314380" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" ""
"00314381" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 18
"{{individualid}}" "{{diseaseid}}"
"00269292" "05678"
"00274325" "00198"
"00274326" "00198"
"00274327" "00198"
"00274328" "00198"
"00274329" "00198"
"00274330" "00198"
"00274331" "00198"
"00274332" "00198"
"00274346" "00198"
"00274347" "00198"
"00274348" "00198"
"00274349" "00198"
"00274350" "00198"
"00274351" "00198"
"00274352" "00198"
"00314380" "05126"
"00314381" "05126"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 05126, 05678
## Count = 15
"{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000209268" "00198" "00274325" "00006" "Familial, autosomal recessive" "37y" "37y-deceased; facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; delayed motor milestone; generalized muscle hypoplasia; congenital contractures; growth failure; feeding problems; ptosis; palate high/cleft; no gastro/jejunostomy; thin tubular neck; pectoralis hypoplasia; hypoglossia; scoliosis; pulmonary hypertension; CPK normal; EMG myopathic" "" "" "" "" "" "" "" "CFZS" "Carey-Fineman-Ziter syndrome" ""
"0000209269" "00198" "00274326" "00006" "Familial, autosomal recessive" "37y" "facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; delayed motor milestone; generalized muscle hypoplasia; congenital contractures; growth failure; feeding problems; ptosis; palate high/cleft; gastro/jejunostomy; no thin tubular neck; pectoralis hypoplasia; hypoglossia; scoliosis; pulmonary hypertension; cryptorchidism (m); raised CPK (589IU/L); EMG myopathic; MRI muscle fatty infiltration/hypoplasia paraspinal, gluteus maximus, adductor magnus and sartorius muscles thigh; MRI brain normal" "" "" "" "" "" "" "" "CFZS" "Carey-Fineman-Ziter syndrome" ""
"0000209270" "00198" "00274327" "00006" "Familial, autosomal recessive" "19y" "facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; delayed motor milestone; generalized muscle hypoplasia; congenital contractures; growth failure; feeding problems; ptosis; no palate high/cleft; gastro/jejunostomy; thin tubular neck; no pectoralis hypoplasia; no hypoglossia; no scoliosis; no pulmonary hypertension; MRI muscle isolated sartorius involvement" "" "" "" "" "" "" "" "CFZS" "Carey-Fineman-Ziter syndrome" ""
"0000209271" "00198" "00274328" "00006" "Familial, autosomal recessive" "1y4m" "facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; delayed motor milestone; generalized muscle hypoplasia; congenital contractures; growth failure; feeding problems; no ptosis; no palate high/cleft; gastro/jejunostomy; no thin tubular neck; no pectoralis hypoplasia; hypoglossia; no scoliosis; no pulmonary hypertension; cryptorchidism (m)" "" "" "" "" "" "" "" "CFZS" "Carey-Fineman-Ziter syndrome" ""
"0000209272" "00198" "00274329" "00006" "Familial, autosomal recessive" "11y" "facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; delayed motor milestone; generalized muscle hypoplasia; congenital contractures talipes; growth failure; feeding problems; ptosis; palate high/cleft; gastro/jejunostomy; thin tubular neck; pectoralis hypoplasia; no hypoglossia; no scoliosis; no pulmonary hypertension; raised CPK (360 IU/L); EMG myopathic; MRI muscle fatty infiltration/hypoplasia paraspinal, gluteus maximus, adductor magnus and sartorius muscles thigh; MRI brain normal" "" "" "" "" "" "" "" "CFZS" "Carey-Fineman-Ziter syndrome" ""
"0000209273" "00198" "00274330" "00006" "Familial, autosomal recessive" "7y6m" "facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; delayed motor milestone; generalized muscle hypoplasia; growth failure; feeding problems; no ptosis; palate high/cleft; gastro/jejunostomy; no thin tubular neck; no pectoralis hypoplasia; no hypoglossia; scoliosis; no pulmonary hypertension; raised CPK (282 IU/L); MRI brain normal" "" "" "" "" "" "" "" "CFZS" "Carey-Fineman-Ziter syndrome" ""
"0000209274" "00198" "00274331" "00006" "Familial, autosomal recessive" "7y" "facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; delayed motor milestone; generalized muscle hypoplasia; congenital contractures 4/5th finger; growth failure; feeding problems; ptosis; palate high/cleft; no gastro/jejunostomy; thin tubular neck; pectoralis hypoplasia; hypoglossia; no scoliosis; no pulmonary hypertension; CPK normal; MRI brain normal" "" "" "" "" "" "" "" "CFZS" "Carey-Fineman-Ziter syndrome" ""
"0000209275" "00198" "00274332" "00006" "Familial, autosomal recessive" "28y" "facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; mild delayed motor milestone; generalized muscle hypoplasia; congenital contractures 4/5th finger; no growth failure; no feeding problems; ptosis; palate high/cleft; no gastro/jejunostomy; thin tubular neck; pectoralis hypoplasia; no hypoglossia; scoliosis; no pulmonary hypertension; raised CPK (543 IU/L); EMG myopathic" "" "" "" "" "" "" "" "CFZS" "Carey-Fineman-Ziter syndrome" ""
"0000209289" "00198" "00274346" "00006" "Familial, autosomal recessive" "" "head control-1y, sit-3y, walk-4y; first words-6y; onset seizures-7m, myoclonic seizures; head circumference -1.2SD; hypotonia infancy; hypertonia; intellectual disability" "" "" "" "" "" "" "" "MRT57" "intellectual disability" ""
"0000209290" "00198" "00274347" "00006" "Familial, autosomal recessive" "" "head control-1y, sit-2y, walk-3y6m; first words-5y; no seizures; no hypotonia infancy; hypertonia; intellectual disability" "" "" "" "" "" "" "" "MRT57" "intellectual disability" ""
"0000209291" "00198" "00274348" "00006" "Familial, autosomal recessive" "" "head control-8m, sit-1y, walk-2y; first words-5y; onset seizures-2y, febrile seizures; head circumference -1.1SD; hypotonia infancy; hypertonia; intellectual disability" "" "" "" "" "" "" "" "MRT57" "intellectual disability" ""
"0000209292" "00198" "00274349" "00006" "Familial, autosomal recessive" "" "head control-9m, sit-1y, walk-2y; first words-5y; no seizures; head circumference -0.9SD; hypotonia infancy; hypertonia; intellectual disability;" "" "" "" "" "" "" "" "MRT57" "intellectual disability" ""
"0000209293" "00198" "00274350" "00006" "Familial, autosomal recessive" "" "head control-1y, sit-3y, walk-4y; first words-6y; onset seizures-1y, febrile seizures; head circumference -1.5SD; hypotonia infancy; hypertonia; intellectual disability" "" "" "" "" "" "" "" "MRT57" "intellectual disability" ""
"0000209294" "00198" "00274351" "00006" "Familial, autosomal recessive" "" "head control-1y, sit-4y, walk-6y; no speech; no seizures; head circumference -1SD; hypotonia infancy; hypertonia; intellectual disability" "" "" "" "" "" "" "" "MRT57" "intellectual disability" ""
"0000209295" "00198" "00274352" "00006" "Familial, autosomal recessive" "" "head control-1y, sit-4y, walk-5y; no speech; no seizures; head circumference -2SD; hypotonia infancy; hypertonia; intellectual disability" "" "" "" "" "" "" "" "MRT57" "intellectual disability" ""
## Screenings ## Do not remove or alter this header ##
## Count = 18
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000275388" "00269292" "1" "03480" "03480" "2019-12-26 09:39:47" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000275485" "00274325" "1" "00006" "00006" "2019-12-29 12:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000275486" "00274326" "1" "00006" "00006" "2019-12-29 12:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000275487" "00274327" "1" "00006" "00006" "2019-12-29 12:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000275488" "00274328" "1" "00006" "00006" "2019-12-29 12:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000275489" "00274329" "1" "00006" "00006" "2019-12-29 12:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000275490" "00274330" "1" "00006" "00006" "2019-12-29 12:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000275491" "00274331" "1" "00006" "00006" "2019-12-29 12:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000275492" "00274332" "1" "00006" "00006" "2019-12-29 12:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000275506" "00274346" "1" "00006" "00006" "2019-12-29 15:57:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000275507" "00274347" "1" "00006" "00006" "2019-12-29 15:57:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000275508" "00274348" "1" "00006" "00006" "2019-12-29 15:57:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000275509" "00274349" "1" "00006" "00006" "2019-12-29 15:57:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000275510" "00274350" "1" "00006" "00006" "2019-12-29 15:57:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000275511" "00274351" "1" "00006" "00006" "2019-12-29 15:57:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000275512" "00274352" "1" "00006" "00006" "2019-12-29 15:57:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000315553" "00314380" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000315554" "00314381" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 17
"{{screeningid}}" "{{geneid}}"
"0000275485" "TMEM8C"
"0000275486" "TMEM8C"
"0000275487" "TMEM8C"
"0000275488" "TMEM8C"
"0000275489" "TMEM8C"
"0000275490" "TMEM8C"
"0000275491" "TMEM8C"
"0000275492" "TMEM8C"
"0000275506" "MBOAT7"
"0000275507" "MBOAT7"
"0000275508" "MBOAT7"
"0000275509" "MBOAT7"
"0000275510" "MBOAT7"
"0000275511" "MBOAT7"
"0000275512" "MBOAT7"
"0000315553" "TMEM8C"
"0000315554" "TMEM8C"
## 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 = 29
"{{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}}"
"0000629387" "21" "50" "9" "136383991" "136383991" "subst" "2.0744E-5" "03480" "TMEM8C_000002" "g.136383991C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.133518869C>T" "" "VUS" ""
"0000629508" "11" "50" "9" "136384124" "136384124" "subst" "0.0012174" "03480" "TMEM8C_000003" "g.136384124G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.133519002G>T" "" "VUS" ""
"0000629509" "11" "90" "9" "136384124" "136384124" "subst" "0.0012174" "00006" "TMEM8C_000003" "g.136384124G>T" "" "{PMID:Di Gioia 2017:28681861}" "" "" "" "Germline" "" "" "0" "" "" "g.133519002G>T" "" "pathogenic (recessive)" ""
"0000629510" "11" "90" "9" "136384124" "136384124" "subst" "0.0012174" "00006" "TMEM8C_000003" "g.136384124G>T" "" "{PMID:Di Gioia 2017:28681861}" "" "" "" "Germline" "" "" "0" "" "" "g.133519002G>T" "" "pathogenic (recessive)" ""
"0000629511" "11" "90" "9" "136384124" "136384124" "subst" "0.0012174" "00006" "TMEM8C_000003" "g.136384124G>T" "" "{PMID:Di Gioia 2017:28681861}" "" "" "" "Germline" "" "" "0" "" "" "g.133519002G>T" "" "pathogenic (recessive)" ""
"0000629512" "11" "90" "9" "136384124" "136384124" "subst" "0.0012174" "00006" "TMEM8C_000003" "g.136384124G>T" "" "{PMID:Di Gioia 2017:28681861}" "" "" "" "Germline" "" "" "0" "" "" "g.133519002G>T" "" "pathogenic (recessive)" ""
"0000629513" "11" "90" "9" "136384124" "136384124" "subst" "0.0012174" "00006" "TMEM8C_000003" "g.136384124G>T" "" "{PMID:Di Gioia 2017:28681861}" "" "" "" "Germline" "" "" "0" "" "" "g.133519002G>T" "" "pathogenic (recessive)" ""
"0000629514" "11" "90" "9" "136384124" "136384124" "subst" "0.0012174" "00006" "TMEM8C_000003" "g.136384124G>T" "" "{PMID:Di Gioia 2017:28681861}" "" "" "" "Germline" "" "" "0" "" "" "g.133519002G>T" "" "pathogenic (recessive)" ""
"0000629515" "11" "90" "9" "136384124" "136384124" "subst" "0.0012174" "00006" "TMEM8C_000003" "g.136384124G>T" "" "{PMID:Di Gioia 2017:28681861}" "" "" "" "Germline" "" "" "0" "" "" "g.133519002G>T" "" "pathogenic (recessive)" ""
"0000629516" "3" "90" "9" "136380668" "136380668" "subst" "0" "00006" "TMEM8C_000008" "g.136380668A>G" "" "{PMID:Di Gioia 2017:28681861}" "" "" "" "Germline" "" "" "0" "" "" "g.133515546A>G" "" "pathogenic (recessive)" ""
"0000629517" "21" "90" "9" "136379871" "136379871" "subst" "0" "00006" "TMEM8C_000007" "g.136379871A>G" "" "{PMID:Di Gioia 2017:28681861}" "" "" "" "Germline" "" "" "0" "" "" "g.133514749A>G" "" "pathogenic (recessive)" ""
"0000629518" "21" "90" "9" "136379871" "136379871" "subst" "0" "00006" "TMEM8C_000007" "g.136379871A>G" "" "{PMID:Di Gioia 2017:28681861}" "" "" "" "Germline" "" "" "0" "" "" "g.133514749A>G" "" "pathogenic (recessive)" ""
"0000629519" "21" "90" "9" "136384097" "136384097" "subst" "4.06488E-6" "00006" "TMEM8C_000009" "g.136384097C>T" "" "{PMID:Di Gioia 2017:28681861}" "" "" "" "Germline" "" "" "0" "" "" "g.133518975C>T" "" "pathogenic (recessive)" ""
"0000629520" "21" "90" "9" "136384097" "136384097" "subst" "4.06488E-6" "00006" "TMEM8C_000009" "g.136384097C>T" "" "{PMID:Di Gioia 2017:28681861}" "" "" "" "Germline" "" "" "0" "" "" "g.133518975C>T" "" "pathogenic (recessive)" ""
"0000629521" "21" "90" "9" "136384097" "136384097" "subst" "4.06488E-6" "00006" "TMEM8C_000009" "g.136384097C>T" "" "{PMID:Di Gioia 2017:28681861}" "" "" "" "Germline" "" "" "0" "" "" "g.133518975C>T" "" "pathogenic (recessive)" ""
"0000629522" "21" "90" "9" "136384097" "136384097" "subst" "4.06488E-6" "00006" "TMEM8C_000009" "g.136384097C>T" "" "{PMID:Di Gioia 2017:28681861}" "" "" "" "Germline" "" "" "0" "" "" "g.133518975C>T" "" "pathogenic (recessive)" ""
"0000629523" "21" "90" "9" "136389965" "136389965" "subst" "0" "00006" "TMEM8C_000010" "g.136389965A>T" "" "{PMID:Di Gioia 2017:28681861}" "" "" "" "Germline" "" "" "0" "" "" "g.133524843A>T" "" "pathogenic (recessive)" ""
"0000629537" "3" "90" "19" "54687477" "54687477" "del" "0" "00006" "TMEM8C_000006" "g.54687477del" "" "{PMID:Johansen 2016:27616480}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54183594del" "" "pathogenic (recessive)" ""
"0000629538" "3" "90" "19" "54687477" "54687477" "del" "0" "00006" "TMEM8C_000006" "g.54687477del" "" "{PMID:Johansen 2016:27616480}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54183594del" "" "pathogenic (recessive)" ""
"0000629539" "3" "90" "19" "54684489" "54684489" "subst" "0" "00006" "TMEM8C_000004" "g.54684489C>G" "" "{PMID:Johansen 2016:27616480}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54180772C>G" "" "pathogenic (recessive)" ""
"0000629540" "3" "90" "19" "54684489" "54684489" "subst" "0" "00006" "TMEM8C_000004" "g.54684489C>G" "" "{PMID:Johansen 2016:27616480}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54180772C>G" "" "pathogenic (recessive)" ""
"0000629541" "3" "90" "19" "54684518" "54684524" "del" "0" "00006" "TMEM8C_000005" "g.54684518_54684524del" "" "{PMID:Johansen 2016:27616480}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54180801_54180807del" "" "pathogenic (recessive)" ""
"0000629542" "3" "90" "19" "54684518" "54684524" "del" "0" "00006" "TMEM8C_000005" "g.54684518_54684524del" "" "{PMID:Johansen 2016:27616480}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54180801_54180807del" "" "pathogenic (recessive)" ""
"0000629543" "3" "90" "19" "54684518" "54684524" "del" "0" "00006" "TMEM8C_000005" "g.54684518_54684524del" "" "{PMID:Johansen 2016:27616480}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54180801_54180807del" "" "pathogenic (recessive)" ""
"0000697642" "0" "70" "9" "136383991" "136383991" "subst" "2.0744E-5" "00006" "TMEM8C_000002" "g.136383991C>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.133518869C>T" "" "likely pathogenic" ""
"0000697643" "0" "70" "9" "136384124" "136384124" "subst" "0.0012174" "00006" "TMEM8C_000003" "g.136384124G>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.133519002G>T" "" "likely pathogenic" ""
"0000888699" "0" "30" "9" "136383984" "136383984" "subst" "0.00165527" "02326" "TMEM8C_000011" "g.136383984C>T" "" "" "" "MYMK(NM_001080483.3):c.399+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000978490" "0" "90" "9" "136384124" "136384124" "subst" "0.0012174" "01804" "TMEM8C_000003" "g.136384124G>T" "" "" "" "MYMK(NM_001080483.3):c.271C>A (p.(Pro91Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001053408" "0" "50" "9" "136380648" "136380648" "subst" "1.21899E-5" "01804" "TMEM8C_000012" "g.136380648C>T" "" "" "" "MYMK(NM_001080483.3):c.481G>A (p.(Gly161Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## 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 TMEM8C
## Count = 29
"{{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}}"
"0000629387" "00021256" "50" "399" "5" "399" "5" "c.399+5G>A" "r.spl?" "p.?" ""
"0000629508" "00021256" "50" "271" "0" "271" "0" "c.271C>A" "r.(?)" "p.(Pro91Thr)" ""
"0000629509" "00021256" "90" "271" "0" "271" "0" "c.271C>A" "r.(?)" "p.(Pro91Thr)" ""
"0000629510" "00021256" "90" "271" "0" "271" "0" "c.271C>A" "r.(?)" "p.(Pro91Thr)" ""
"0000629511" "00021256" "90" "271" "0" "271" "0" "c.271C>A" "r.(?)" "p.(Pro91Thr)" ""
"0000629512" "00021256" "90" "271" "0" "271" "0" "c.271C>A" "r.(?)" "p.(Pro91Thr)" ""
"0000629513" "00021256" "90" "271" "0" "271" "0" "c.271C>A" "r.(?)" "p.(Pro91Thr)" ""
"0000629514" "00021256" "90" "271" "0" "271" "0" "c.271C>A" "r.(?)" "p.(Pro91Thr)" ""
"0000629515" "00021256" "90" "271" "0" "271" "0" "c.271C>A" "r.(?)" "p.(Pro91Thr)" ""
"0000629516" "00021256" "90" "461" "0" "461" "0" "c.461T>C" "r.(?)" "p.(Ile154Thr)" ""
"0000629517" "00021256" "90" "553" "0" "553" "0" "c.553T>C" "r.(?)" "p.(Cys185Arg)" ""
"0000629518" "00021256" "90" "553" "0" "553" "0" "c.553T>C" "r.(?)" "p.(Cys185Arg)" ""
"0000629519" "00021256" "90" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Gly100Ser)" ""
"0000629520" "00021256" "90" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Gly100Ser)" ""
"0000629521" "00021256" "90" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Gly100Ser)" ""
"0000629522" "00021256" "90" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Gly100Ser)" ""
"0000629523" "00021256" "90" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.0?" ""
"0000629537" "00021256" "90" "423" "0" "423" "0" "c.423del" "r.(?)" "p.(Leu142Cysfs*8)" ""
"0000629538" "00021256" "90" "423" "0" "423" "0" "c.423del" "r.(?)" "p.(Leu142Cysfs*8)" ""
"0000629539" "00021256" "90" "854" "1" "854" "1" "c.854+1G>C" "r.spl" "p.0?" ""
"0000629540" "00021256" "90" "854" "1" "854" "1" "c.854+1G>C" "r.spl" "p.0?" ""
"0000629541" "00021256" "90" "820" "0" "826" "0" "c.820_826del" "r.(?)" "p.(Gly274Profs*47)" ""
"0000629542" "00021256" "90" "820" "0" "826" "0" "c.820_826del" "r.(?)" "p.(Gly274Profs*47)" ""
"0000629543" "00021256" "90" "820" "0" "826" "0" "c.820_826del" "r.(?)" "p.(Gly274Profs*47)" ""
"0000697642" "00021256" "70" "399" "5" "399" "5" "c.399+5G>A" "r.spl?" "p.?" ""
"0000697643" "00021256" "70" "271" "0" "271" "0" "c.271C>A" "r.(?)" "p.(Pro91Thr)" ""
"0000888699" "00021256" "30" "399" "12" "399" "12" "c.399+12G>A" "r.(=)" "p.(=)" ""
"0000978490" "00021256" "90" "271" "0" "271" "0" "c.271C>A" "r.(?)" "p.(Pro91Thr)" ""
"0001053408" "00021256" "50" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Gly161Arg)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 26
"{{screeningid}}" "{{variantid}}"
"0000275388" "0000629387"
"0000275388" "0000629508"
"0000275485" "0000629509"
"0000275485" "0000629517"
"0000275486" "0000629510"
"0000275486" "0000629518"
"0000275487" "0000629511"
"0000275487" "0000629519"
"0000275488" "0000629512"
"0000275488" "0000629520"
"0000275489" "0000629513"
"0000275489" "0000629521"
"0000275490" "0000629514"
"0000275490" "0000629522"
"0000275491" "0000629515"
"0000275491" "0000629523"
"0000275492" "0000629516"
"0000275506" "0000629537"
"0000275507" "0000629538"
"0000275508" "0000629539"
"0000275509" "0000629540"
"0000275510" "0000629541"
"0000275511" "0000629542"
"0000275512" "0000629543"
"0000315553" "0000697642"
"0000315554" "0000697643"