### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MTMR14) # 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}}" "MTMR14" "myotubularin related protein 14" "3" "p26" "unknown" "NG_017068.1" "UD_132085258347" "" "https://www.LOVD.nl/MTMR14" "" "1" "26190" "64419" "611089" "1" "1" "1" "1" "Alias hJUMPY\r\nThis database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/MTMR14_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2018-12-27 12:56:23" "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}}" "00024087" "MTMR14" "transcript variant 2" "001" "NM_001077525.2" "" "NP_001070993.1" "" "" "" "-151" "2374" "1953" "9691117" "9744078" "00006" "2015-12-12 02:19:28" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01454" "CNM1" "myopathy, centronuclear, type 1 (CNM1)" "AD" "160150" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-06-30 15:10:08" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MTMR14" "01454" ## Individuals ## Do not remove or alter this header ## ## Count = 34 "{{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}}" "00056342" "" "" "" "2" "" "00006" "Case5 {PMID:Zanotelli 1998:9667782}" "carrier father (no complaint myopathic signs)" "M" "" "Brazil" ">12y" "0" "" "" "" "" "00056353" "" "" "" "1" "" "00006" "" "" "F" "" "Brazil" ">36y" "0" "" "" "" "" "00210134" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210135" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210136" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210137" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210138" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210139" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210140" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210141" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210142" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210143" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210144" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210145" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210146" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210147" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210148" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210149" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210150" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210151" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210152" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210153" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210154" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210155" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210156" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210157" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210158" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210159" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210160" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210161" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210162" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00210163" "" "" "" "1" "" "00006" "{PMID:Tosch 2006:17008356}" "" "" "" "Brazil" "" "0" "" "" "" "17008356-c" "00293486" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00446865" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat173" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 34 "{{individualid}}" "{{diseaseid}}" "00056342" "01454" "00056353" "01454" "00210134" "00000" "00210135" "00000" "00210136" "00000" "00210137" "00000" "00210138" "00000" "00210139" "00000" "00210140" "00000" "00210141" "00000" "00210142" "00000" "00210143" "00000" "00210144" "00000" "00210145" "00000" "00210146" "00000" "00210147" "00000" "00210148" "00000" "00210149" "00000" "00210150" "00000" "00210151" "00000" "00210152" "00000" "00210153" "00000" "00210154" "00000" "00210155" "00000" "00210156" "00000" "00210157" "00000" "00210158" "00000" "00210159" "00000" "00210160" "00000" "00210161" "00000" "00210162" "00000" "00210163" "00000" "00293486" "00198" "00446865" "04173" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01454, 04173 ## Count = 30 "{{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}}" "0000042955" "01454" "00056342" "00006" "Isolated (sporadic)" "" "early onset; neonatal hypotonia, hypoxia; 12y-stable or slowly progressive disease, general hypotonia, diffuse weakness (predominantly proximal portions limbs) ophthalmoparesis" "" "" "" "" "" "" "" "" "" "" "" "0000042966" "01454" "00056353" "00006" "Isolated (sporadic)" "" "early onset; neonatal hypotonia, stable muscle involvement, ophthalmoparesis" "" "" "" "" "" "" "" "" "" "" "" "0000158708" "00000" "00210134" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158709" "00000" "00210135" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158710" "00000" "00210136" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158712" "00000" "00210138" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158713" "00000" "00210139" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158714" "00000" "00210140" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158715" "00000" "00210141" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158716" "00000" "00210142" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158717" "00000" "00210143" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158718" "00000" "00210144" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158719" "00000" "00210145" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158721" "00000" "00210147" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158722" "00000" "00210148" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158723" "00000" "00210149" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158724" "00000" "00210150" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158725" "00000" "00210151" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158726" "00000" "00210152" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158727" "00000" "00210153" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158729" "00000" "00210155" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158730" "00000" "00210156" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158731" "00000" "00210157" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158732" "00000" "00210158" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158733" "00000" "00210159" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158734" "00000" "00210160" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158735" "00000" "00210161" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158736" "00000" "00210162" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158737" "00000" "00210163" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000336069" "04173" "00446865" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" ## Screenings ## Do not remove or alter this header ## ## Count = 34 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056293" "00056342" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2015-12-12 02:29:55" "DHPLC;SEQ;Southern" "DNA" "" "" "0000056304" "00056353" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2015-12-12 02:35:58" "DHPLC;SEQ" "DNA" "" "" "0000211210" "00210134" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ;DHPLC;SSCA" "DNA" "" "" "0000211211" "00210135" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211212" "00210136" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211213" "00210137" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211214" "00210138" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211215" "00210139" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211216" "00210140" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211217" "00210141" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211218" "00210142" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211219" "00210143" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211220" "00210144" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211221" "00210145" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211222" "00210146" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211223" "00210147" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211224" "00210148" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211225" "00210149" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211226" "00210150" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211227" "00210151" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211228" "00210152" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211229" "00210153" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211230" "00210154" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211231" "00210155" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211232" "00210156" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211233" "00210157" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211234" "00210158" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211235" "00210159" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211236" "00210160" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211237" "00210161" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211238" "00210162" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211239" "00210163" "1" "00006" "00006" "2010-05-30 22:33:42" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000294654" "00293486" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000448440" "00446865" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{geneid}}" "0000056293" "DNM2" "0000056293" "MTMR14" "0000056304" "DNM2" "0000056304" "MTMR14" "0000211210" "MTMR14" "0000211211" "MTMR14" "0000211212" "MTMR14" "0000211213" "MTMR14" "0000211214" "MTMR14" "0000211215" "MTMR14" "0000211216" "MTMR14" "0000211217" "MTMR14" "0000211218" "MTMR14" "0000211219" "MTMR14" "0000211220" "MTMR14" "0000211221" "MTMR14" "0000211222" "MTMR14" "0000211223" "MTMR14" "0000211224" "MTMR14" "0000211225" "MTMR14" "0000211226" "MTMR14" "0000211227" "MTMR14" "0000211228" "MTMR14" "0000211229" "MTMR14" "0000211230" "MTMR14" "0000211231" "MTMR14" "0000211232" "MTMR14" "0000211233" "MTMR14" "0000211234" "MTMR14" "0000211235" "MTMR14" "0000211236" "MTMR14" "0000211237" "MTMR14" "0000211238" "MTMR14" "0000211239" "MTMR14" ## 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 = 43 "{{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}}" "0000086568" "11" "70" "3" "9726311" "9726311" "subst" "8.12183E-6" "00006" "MTMR14_000001" "g.9726311G>A" "1/50 cases CNM" "{PMID:Tosch 2006:17008356}, {OMIM611089:0001}" "" "" "not in 820 control chromosomes; carrier father unaffected" "Germline" "" "rs121434509" "0" "" "" "g.9684627G>A" "" "likely pathogenic" "" "0000086569" "0" "30" "3" "9730718" "9730718" "subst" "8.13703E-6" "00006" "MTMR14_000002" "g.9730718A>G" "" "{PMID:Tosch 2006:17008356}, {OMIM611089:0002}" "" "" "" "De novo" "" "" "0" "" "" "g.9689034A>G" "" "likely benign" "" "0000442666" "1" "10" "3" "9730718" "9730718" "subst" "8.13703E-6" "00006" "MTMR14_000002" "g.9730718A>G" "1/700" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9689034A>G" "" "benign" "" "0000442667" "0" "11" "3" "9691526" "9691526" "subst" "0" "00006" "MTMR14_000004" "g.9691526T>C" "0.09" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9649842T>C" "" "benign" "" "0000442668" "0" "11" "3" "9691548" "9691548" "subst" "0" "00006" "MTMR14_000005" "g.9691548A>G" "0.05" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9649864A>G" "" "benign" "" "0000442669" "0" "11" "3" "9703784" "9703784" "subst" "0" "00006" "MTMR14_000035" "g.9703784T>C" "0.16" "{PMID:Tosch 2006:17008356}" "" "309-168T>C" "" "Germline" "" "rs4684648" "0" "" "" "g.9662100T>C" "" "benign" "" "0000442670" "0" "11" "3" "9710226" "9710226" "subst" "0" "00006" "MTMR14_000007" "g.9710226G>A" "0.03" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9668542G>A" "" "benign" "" "0000442671" "0" "11" "3" "9710307" "9710307" "subst" "0" "00006" "MTMR14_000008" "g.9710307T>C" "0.06" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9668623T>C" "" "benign" "" "0000442672" "0" "11" "3" "9710379" "9710379" "subst" "0.00151905" "00006" "MTMR14_000009" "g.9710379G>A" "0.01" "{PMID:Tosch 2006:17008356}" "" "418-24A>G" "" "Germline" "" "" "0" "" "" "g.9668695G>A" "" "benign" "" "0000442673" "0" "11" "3" "9711032" "9711032" "subst" "0" "00006" "MTMR14_000036" "g.9711032A>G" "0.01" "{PMID:Tosch 2006:17008356}" "" "494-85A>G" "" "Germline" "" "rs1021289763" "0" "" "" "g.9669348A>G" "" "benign" "" "0000442674" "0" "11" "3" "9714099" "9714099" "subst" "0" "00006" "MTMR14_000011" "g.9714099A>G" "0.01" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9672415A>G" "" "benign" "" "0000442675" "0" "11" "3" "9714159" "9714159" "subst" "0" "00006" "MTMR14_000012" "g.9714159A>G" "0.03" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9672475A>G" "" "benign" "" "0000442676" "0" "11" "3" "9714322" "9714322" "subst" "0.000996" "00006" "MTMR14_000013" "g.9714322T>G" "0.01" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9672638T>G" "" "benign" "" "0000442677" "0" "11" "3" "9719635" "9719635" "subst" "2.85535E-5" "00006" "MTMR14_000014" "g.9719635A>T" "0.02" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9677951A>T" "" "benign" "" "0000442678" "0" "11" "3" "9719866" "9719866" "del" "0" "00006" "MTMR14_000034" "g.9719866del" "0.03" "{PMID:Tosch 2006:17008356}" "" "897+125delC" "" "Germline" "" "rs145599359" "0" "" "" "g.9678182del" "" "benign" "" "0000442679" "0" "11" "3" "9726211" "9726211" "subst" "0" "00006" "MTMR14_000016" "g.9726211G>A" "0.001" "{PMID:Tosch 2006:17008356}" "" "964-58G>A" "" "Germline" "" "" "0" "" "" "g.9684527G>A" "" "benign" "" "0000442680" "0" "11" "3" "9726255" "9726255" "subst" "0.00046297" "00006" "MTMR14_000017" "g.9726255C>T" "0.001" "{PMID:Tosch 2006:17008356}" "" "964-14C>T" "" "Germline" "" "" "0" "" "" "g.9684571C>T" "" "benign" "" "0000442681" "0" "11" "3" "9726415" "9726415" "subst" "0" "00006" "MTMR14_000018" "g.9726415A>T" "0.001" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9684731A>T" "" "benign" "" "0000442682" "0" "11" "3" "9726428" "9726428" "subst" "0" "00006" "MTMR14_000019" "g.9726428C>G" "0.001" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9684744C>G" "" "benign" "" "0000442683" "0" "11" "3" "9726425" "9726425" "subst" "0" "00006" "MTMR14_000020" "g.9726425G>C" "0.01" "{PMID:Tosch 2006:17008356}" "" "1051-147G>C" "" "Germline" "" "" "0" "" "" "g.9684741G>C" "" "benign" "" "0000442684" "0" "11" "3" "9726515" "9726515" "subst" "0" "00006" "MTMR14_000021" "g.9726515G>T" "0.01" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9684831G>T" "" "benign" "" "0000442685" "0" "11" "3" "9726892" "9726892" "subst" "8.12163E-5" "00006" "MTMR14_000022" "g.9726892C>T" "0.01" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9685208C>T" "" "benign" "" "0000442686" "0" "11" "3" "9726968" "9726968" "del" "0.00390812" "00006" "MTMR14_000033" "g.9726968del" "0.02" "{PMID:Tosch 2006:17008356}" "" "1164+36delG" "" "Germline" "" "rs373359960" "0" "" "" "g.9685284del" "" "benign" "" "0000442687" "0" "11" "3" "9727002" "9727002" "subst" "0" "00006" "MTMR14_000024" "g.9727002G>C" "0.22" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9685318G>C" "" "benign" "" "0000442688" "0" "11" "3" "9730284" "9730284" "subst" "0" "00006" "MTMR14_000025" "g.9730284A>G" "0.07" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9688600A>G" "" "benign" "" "0000442689" "0" "11" "3" "9730365" "9730365" "subst" "0.00163684" "00006" "MTMR14_000026" "g.9730365G>A" "0.02" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9688681G>A" "" "benign" "" "0000442690" "0" "11" "3" "9730522" "9730522" "subst" "0" "00006" "MTMR14_000027" "g.9730522G>A" "0.02" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9688838G>A" "" "benign" "" "0000442691" "0" "11" "3" "9730535" "9730535" "subst" "0" "00006" "MTMR14_000028" "g.9730535T>G" "0.03" "{PMID:Tosch 2006:17008356}" "" "1294+97T>G" "" "Germline" "" "" "0" "" "" "g.9688851T>G" "" "benign" "" "0000442692" "0" "11" "3" "9731589" "9731589" "subst" "0" "00006" "MTMR14_000029" "g.9731589G>T" "0.02" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9689905G>T" "" "benign" "" "0000442693" "0" "11" "3" "9731644" "9731644" "subst" "0.00725907" "00006" "MTMR14_000030" "g.9731644G>A" "0.01" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9689960G>A" "" "benign" "" "0000442694" "0" "11" "3" "9739329" "9739329" "subst" "0" "00006" "MTMR14_000031" "g.9739329C>T" "0.03" "{PMID:Tosch 2006:17008356}" "" "" "" "Germline" "" "" "0" "" "" "g.9697645C>T" "" "benign" "" "0000442695" "0" "11" "3" "9743408" "9743411" "del" "0" "00006" "MTMR14_000032" "g.9743408_9743411del" "0.08" "{PMID:Tosch 2006:17008356}" "" "1760-62insGGAG" "" "Germline" "" "" "0" "" "" "g.9701724_9701727del" "" "benign" "" "0000442696" "0" "70" "3" "9726311" "9726311" "subst" "8.12183E-6" "00006" "MTMR14_000001" "g.9726311G>A" "" "{PMID:Tosch 2006:17008356}, {OMIM611089:0001}" "AvaII" "" "expression cloning; COS-1 cells normal localisation, phosphatase activity 28%" "In vitro (cloned)" "" "" "0" "" "" "g.9684627G>A" "" "NA" "" "0000442697" "0" "30" "3" "9730718" "9730718" "subst" "8.13703E-6" "00006" "MTMR14_000002" "g.9730718A>G" "" "{PMID:Tosch 2006:17008356}, {OMIM611089:0002}" "" "" "expression cloning; COS-1 cells normal localisation, phosphatase activity 80%" "In vitro (cloned)" "" "" "0" "" "" "g.9689034A>G" "" "NA" "" "0000442698" "0" "70" "3" "9726292" "9726292" "subst" "0" "00006" "MTMR14_000003" "g.9726292T>A" "" "{PMID:Tosch 2006:17008356}" "" "" "expression cloning; COS-1 cells normal localisation, phosphatase activity 23%" "In vitro (cloned)" "" "" "0" "" "" "g.9684608T>A" "" "NA" "" "0000520816" "0" "30" "3" "9712803" "9712803" "subst" "3.24897E-5" "01804" "MTMR14_000038" "g.9712803A>G" "" "" "" "MTMR14(NM_001077525.2):c.626A>G (p.(Lys209Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9671119A>G" "" "likely benign" "" "0000651343" "1" "30" "3" "9726588" "9726588" "subst" "0.000592966" "03575" "MTMR14_000040" "g.9726588C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs183134138}" "Germline" "" "rs183134138" "0" "" "" "g.9684904C>T" "" "likely benign" "" "0000677107" "0" "50" "3" "9743494" "9743494" "subst" "2.46938E-5" "01804" "CPNE9_000001" "g.9743494G>A" "" "" "" "MTMR14(NM_001077525.2):c.1790G>A (p.(Arg597Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689161" "0" "30" "3" "9739391" "9739391" "subst" "7.72886E-5" "02325" "MTMR14_000041" "g.9739391C>T" "" "" "" "MTMR14(NM_022485.5):c.1434-4083C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957847" "0" "70" "3" "9711175" "9711175" "subst" "1.63472E-5" "00006" "MTMR14_000042" "g.9711175C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.9669491C>T" "" "likely pathogenic" "" "0001034206" "0" "50" "3" "9711157" "9711157" "subst" "0" "01804" "MTMR14_000043" "g.9711157G>T" "" "" "" "MTMR14(NM_001077525.3):c.535G>T (p.(Glu179*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034207" "0" "30" "3" "9714418" "9714418" "subst" "0.000243667" "01804" "MTMR14_000044" "g.9714418A>G" "" "" "" "MTMR14(NM_001077525.3):c.727A>G (p.(Thr243Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034208" "0" "30" "3" "9726615" "9726615" "subst" "1.21837E-5" "01804" "MTMR14_000045" "g.9726615A>G" "" "" "" "MTMR14(NM_001077525.3):c.1094A>G (p.(Tyr365Cys))" "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 MTMR14 ## Count = 43 "{{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}}" "0000086568" "00024087" "70" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336Gln)" "11" "0000086569" "00024087" "30" "1385" "0" "1385" "0" "c.1385A>G" "r.(?)" "p.(Tyr462Cys)" "16" "0000442666" "00024087" "10" "1385" "0" "1385" "0" "c.1385A>G" "r.(?)" "p.(Tyr462Cys)" "16" "0000442667" "00024087" "11" "159" "100" "159" "100" "c.159+100T>C" "r.(=)" "p.(=)" "1i" "0000442668" "00024087" "11" "159" "122" "159" "122" "c.159+122A>G" "r.(=)" "p.(=)" "1i" "0000442669" "00024087" "11" "309" "-167" "309" "-167" "c.309-167T>C" "r.(?)" "p.(=)" "2i" "0000442670" "00024087" "11" "418" "-177" "418" "-177" "c.418-177G>A" "r.(=)" "p.(=)" "3i" "0000442671" "00024087" "11" "418" "-96" "418" "-96" "c.418-96T>C" "r.(=)" "p.(=)" "3i" "0000442672" "00024087" "11" "418" "-24" "418" "-24" "c.418-24G>A" "r.(=)" "p.(=)" "3i" "0000442673" "00024087" "11" "494" "-84" "494" "-84" "c.494-84A>G" "r.(?)" "p.(=)" "4i" "0000442674" "00024087" "11" "678" "-270" "678" "-270" "c.678-270A>G" "r.(=)" "p.(=)" "6i" "0000442675" "00024087" "11" "678" "-210" "678" "-210" "c.678-210A>G" "r.(=)" "p.(=)" "6i" "0000442676" "00024087" "11" "678" "-47" "678" "-47" "c.678-47T>G" "r.(=)" "p.(=)" "6i" "0000442677" "00024087" "11" "823" "-33" "823" "-33" "c.823-33A>T" "r.(=)" "p.(=)" "8i" "0000442678" "00024087" "11" "897" "124" "897" "124" "c.897+124del" "r.(?)" "p.(=)" "9i" "0000442679" "00024087" "11" "965" "-58" "965" "-58" "c.965-58G>A" "r.(=)" "p.(=)" "10i" "0000442680" "00024087" "11" "965" "-14" "965" "-14" "c.965-14C>T" "r.(=)" "p.(=)" "10i" "0000442681" "00024087" "11" "1050" "61" "1050" "61" "c.1050+61A>T" "r.(=)" "p.(=)" "11i" "0000442682" "00024087" "11" "1050" "74" "1050" "74" "c.1050+74C>G" "r.(=)" "p.(=)" "11i" "0000442683" "00024087" "11" "1050" "71" "1050" "71" "c.1050+71G>C" "r.(=)" "p.(=)" "11i" "0000442684" "00024087" "11" "1051" "-57" "1051" "-57" "c.1051-57G>T" "r.(=)" "p.(=)" "11i" "0000442685" "00024087" "11" "1128" "-3" "1128" "-3" "c.1128-3C>T" "r.(=)" "p.(=)" "12i" "0000442686" "00024087" "11" "1164" "37" "1164" "37" "c.1164+37del" "r.(=?)" "p.(=)" "13i" "0000442687" "00024087" "11" "1164" "71" "1164" "71" "c.1164+71G>C" "r.(=)" "p.(=)" "13i" "0000442688" "00024087" "11" "1236" "-96" "1236" "-96" "c.1236-96A>G" "r.(=)" "p.(=)" "14i" "0000442689" "00024087" "11" "1236" "-15" "1236" "-15" "c.1236-15G>A" "r.(=)" "p.(=)" "14i" "0000442690" "00024087" "11" "1294" "84" "1294" "84" "c.1294+84G>A" "r.(=)" "p.(=)" "15i" "0000442691" "00024087" "11" "1295" "-93" "1295" "-93" "c.1295-93T>G" "r.(=)" "p.(=)" "15i" "0000442692" "00024087" "11" "1434" "-59" "1434" "-59" "c.1434-59G>T" "r.(=)" "p.(=)" "15i" "0000442693" "00024087" "11" "1434" "-4" "1434" "-4" "c.1434-4G>A" "r.(=)" "p.(=)" "16i" "0000442694" "00024087" "11" "1614" "-66" "1614" "-66" "c.1614-66C>T" "r.(=)" "p.(=)" "17i" "0000442695" "00024087" "11" "1770" "-66" "1770" "-63" "c.1770-66_1770-63del" "r.(=)" "p.(=)" "18i" "0000442696" "00024087" "70" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.Arg336Gln" "11" "0000442697" "00024087" "30" "1385" "0" "1385" "0" "c.1385A>G" "r.(?)" "p.(Tyr462Cys)" "16" "0000442698" "00024087" "70" "988" "0" "988" "0" "c.988T>A" "r.(?)" "p.Cys330Ser" "11" "0000520816" "00024087" "30" "626" "0" "626" "0" "c.626A>G" "r.(?)" "p.(Lys209Arg)" "" "0000651343" "00024087" "30" "1067" "0" "1067" "0" "c.1067C>T" "r.(?)" "p.(Thr356Met)" "" "0000677107" "00024087" "50" "1790" "0" "1790" "0" "c.1790G>A" "r.(?)" "p.(Arg597Gln)" "" "0000689161" "00024087" "30" "1614" "-4" "1614" "-4" "c.1614-4C>T" "r.spl?" "p.?" "" "0000957847" "00024087" "70" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Ter)" "" "0001034206" "00024087" "50" "535" "0" "535" "0" "c.535G>T" "r.(?)" "p.(Glu179*)" "" "0001034207" "00024087" "30" "727" "0" "727" "0" "c.727A>G" "r.(?)" "p.(Thr243Ala)" "" "0001034208" "00024087" "30" "1094" "0" "1094" "0" "c.1094A>G" "r.(?)" "p.(Tyr365Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{variantid}}" "0000056293" "0000086568" "0000056304" "0000086569" "0000211210" "0000442666" "0000211211" "0000442667" "0000211212" "0000442668" "0000211213" "0000442669" "0000211214" "0000442670" "0000211215" "0000442671" "0000211216" "0000442672" "0000211217" "0000442673" "0000211218" "0000442674" "0000211219" "0000442675" "0000211220" "0000442676" "0000211221" "0000442677" "0000211222" "0000442678" "0000211223" "0000442679" "0000211224" "0000442680" "0000211225" "0000442681" "0000211226" "0000442682" "0000211227" "0000442683" "0000211228" "0000442684" "0000211229" "0000442685" "0000211230" "0000442686" "0000211231" "0000442687" "0000211232" "0000442688" "0000211233" "0000442689" "0000211234" "0000442690" "0000211235" "0000442691" "0000211236" "0000442692" "0000211237" "0000442693" "0000211238" "0000442694" "0000211239" "0000442695" "0000294654" "0000651343" "0000448440" "0000957847"