### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMPX) # 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}}" "SMPX" "small muscle protein, X-linked" "X" "p22.2-p22.1" "unknown" "NG_031916.1" "UD_133957319896" "" "http://www.LOVD.nl/SMPX" "" "1" "11122" "23676" "300226" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SMPX_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2012-06-13 00:00:00" "00006" "2021-05-18 09:00:18" "00000" "2024-04-19 20:27:30" ## 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}}" "00025616" "SMPX" "transcript variant 1" "001" "NM_014332.2" "" "NP_055147.1" "" "" "" "-231" "704" "267" "21776278" "21724090" "00006" "2021-05-20 17:13:02" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00023" "DFNX4" "deafness, X-linked, type 4 (DFNX4)" "XLD" "300066" "" "" "" "00008" "2012-07-30 11:33:04" "00006" "2021-05-18 08:59:44" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04294" "SNHL" "hearing loss, sensorineural (SNHL)" "" "" "" "" "" "00006" "2015-06-22 12:14:54" "00006" "2015-10-23 11:42:37" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05285" "DFNX" "deafness, X-linked (DFNX)" "" "" "" "" "" "00006" "2017-06-19 14:08:59" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SMPX" "00023" "SMPX" "05103" "SMPX" "05285" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00003003" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" "" "00059184" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00080147" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00100508" "" "" "" "1" "" "01923" "" "" "" "" "China" "" "0" "" "" "" "" "00112384" "" "" "" "3" "" "02200" "" "" "M" "no" "United States" "" "0" "" "" "North American" "02200" "00117281" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1617" "00285756" "" "" "" "1" "" "00004" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "0" "" "" "" "" "00309890" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00373707" "" "" "" "15" "" "00006" "{PMID:Huebner 2011:21549336}" "5-generation family, 15 affected (9F, 6M)" "F;M" "" "Germany" "" "0" "" "" "" "family" "00373708" "" "" "" "19" "" "00006" "{PMID:Huebner 2011:21549336}," "4-generation family, affected (7F, 12M)" "F;M" "" "Spain" "" "0" "" "" "" "family" "00373709" "" "" "" "25" "" "00006" "{PMID:Schraders 2011:21549342}, {PMID:Weegerink 2011:21893181}" "4-generation family, affected (14F, 11M)" "F;M" "" "Netherlands" "" "0" "" "" "" "W08-1701" "00373710" "" "" "" "4" "" "00006" "{PMID:Schraders 2011:21549342}" "3-generation family, 4 affected (4M), unaffected carrier female" "M" "" "Netherlands Antilles" "" "0" "" "" "" "W05-049" "00373711" "" "" "" "39" "" "00006" "{PMID:Abdelfatah 2013:22911656}" "6-generation family affected (22F, 17M)" "F;M" "" "Canada" "" "0" "" "" "" "Fam2024" "00373712" "" "" "" "9" "" "00006" "{PMID:Abdelfatah 2013:22911656}" "5-generation family, 9 affected (3F, 6M)" "F;M" "" "Canada" "" "0" "" "" "" "Fam2196" "00373791" "" "" "" "6" "" "00006" "{PMID:Guo 2021:33708524}, {DOI:Guo 2021:10.21037/tp-20-435}" "4-generation family, 6 affected (3F, 3M)" "F" "no" "China" "" "0" "" "" "" "FamPatII2" "00373794" "" "" "00373791" "1" "" "00006" "{PMID:Guo 2021:33708524}, {DOI:Guo 2021:10.21037/tp-20-435}" "son of PatII2" "M" "no" "China" "" "0" "" "" "" "FamPatIII3" "00373795" "" "" "00373791" "1" "" "00006" "{PMID:Guo 2021:33708524}, {DOI:Guo 2021:10.21037/tp-20-435}" "son of PatIII2" "M" "no" "China" "" "0" "" "" "" "FamPatIV1" "00373796" "" "" "00373791" "1" "" "00006" "{PMID:Guo 2021:33708524}, {DOI:Guo 2021:10.21037/tp-20-435}" "daughter of PatIII2" "F" "no" "China" "" "0" "" "" "" "FamPatIV2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00003003" "00198" "00059184" "00531" "00080147" "05103" "00100508" "04294" "00112384" "05103" "00117281" "05103" "00285756" "05086" "00309890" "00198" "00373707" "05086" "00373708" "05086" "00373709" "05086" "00373710" "05086" "00373711" "05086" "00373712" "05086" "00373791" "05086" "00373794" "05086" "00373795" "05086" "00373796" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00023, 00198, 00531, 01157, 04294, 05086, 05103, 05285 ## Count = 18 "{{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}}" "0000001854" "00198" "00003003" "00130" "Familial, X-linked recessive" "" "sensorineuralprogressive hearing loss with flat audiogram" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000078711" "04294" "00100508" "01923" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087948" "05103" "00112384" "02200" "Familial, X-linked" "" "X-linked nonsyndromic progressive hearing loss" "02y" "02y" "" "" "" "" "" "" "" "" "" "0000092528" "05103" "00117281" "00110" "Familial, X-linked recessive" "02y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000218335" "05086" "00285756" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, progressive, X-linked" "" "0000235207" "00198" "00309890" "01807" "Unknown" "" "Hearing impairment (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "0000268932" "05086" "00373707" "00006" "Familial, X-linked dominant" "" "postlingual nonsyndromic hearing loss age onset 3y–7y males, initially, moderate hearing loss, especially high frequencies, progresses with age, affects all frequencies later; age onset second-third decade female carriers, patients present with severe hearing loss after 10–15 years; vestibular function was normal, and tinnitus was not reported by the affected individuals. No signs of a conductive hearing loss-component (no air-bone gaps) in pure-tone audiometry indicates normal middle-ear function; computed tomography, magnetic resonance imaging and digital volume tomography show normal middle-ear cavity with regular ossicles, normal mastoid, no signs of malformation; regular inner-ear structures had fluid-filled, normally shaped cochlea allowing later treatment by cochlear implantation" "" "" "" "" "" "" "" "" "DFNX4" "hearling loss" "" "0000268933" "05086" "00373708" "00006" "Familial, X-linked dominant" "" "postlingual nonsyndromic hearing loss, bilateral, symmetric, sensorineural, postlingual, progressive; affected males, high-frequency hearing loss onset 5y–7y, by adulthood severe or profound and involved all frequencies; females onset fourth decade of life, manifesting moderate hearing impairment high frequencies" "" "" "" "" "" "" "" "" "DFNX4" "hearing loss" "" "0000268934" "05086" "00373709" "00006" "Familial, autosomal dominant" "" "see paper; ..., postlingual progressive hearing impairment" "" "" "" "" "" "" "" "" "DFNX4" "hearing loss" "" "0000268935" "05086" "00373710" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNX4" "hearing loss" "" "0000268936" "05086" "00373711" "00006" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNX4" "hearing loss" "" "0000268937" "05086" "00373712" "00006" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNX4" "hearing loss" "" "0000269002" "05086" "00373791" "00006" "Familial, X-linked dominant" "60y" "no noise exposure; hearing loss (HP:0000365) moderate (R), hearing loss (HP:0000365) moderately severe (L); shape audiogram sloping; tinnitus (HP:0000360); no vertigo (-HP:0002321)" "30y-40y" "" "" "" "" "" "" "" "DFNX4" "hearing loss" "" "0000269004" "05086" "00373794" "00006" "Familial, X-linked dominant" "35y" "no noise exposure; hearing loss (HP:0000365) mild (R),hearing loss (HP:0000365) moderate (L); shape audiogram sloping; no tinnitus (-HP:0000360); no vertigo (-HP:0002321)" "10y-20y" "" "" "" "" "" "" "" "DFNX4" "hearing loss" "" "0000269005" "05086" "00373795" "00006" "Familial, X-linked dominant" "10y" "no noise exposure; hearing loss (HP:0000365) moderately severe; shape audiogram sloping; no tinnitus (-HP:0000360); no vertigo (-HP:0002321)" "06y-07y" "" "" "" "" "" "" "" "DFNX4" "hearing loss" "" "0000269006" "05086" "00373796" "00006" "Familial, autosomal dominant" "04y" "no noise exposure; hearing loss (HP:0000365) profound; shape audiogram flat; no tinnitus (-HP:0000360); no vertigo (-HP:0002321)" "03y" "" "" "" "" "" "" "" "DFNX4" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000002909" "00003003" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000059167" "00059184" "1" "01551" "01551" "2016-02-29 16:46:26" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000080241" "00080147" "1" "01740" "01740" "2016-09-02 09:35:23" "" "" "SEQ-NG" "DNA" "" "" "0000100916" "00100508" "1" "01923" "01923" "2017-03-03 05:36:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000112842" "00112384" "1" "02200" "02200" "2017-08-04 17:19:08" "" "" "SEQ-NG-I" "DNA" "" "" "0000117749" "00117281" "1" "00110" "00110" "2017-08-17 11:52:58" "00006" "2020-09-25 08:53:39" "QMPSF;SEQ-NG-I" "DNA" "" "gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments" "0000286906" "00285756" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000311034" "00309890" "1" "01807" "01807" "2020-09-04 17:28:01" "" "" "SEQ" "DNA" "" "" "0000374940" "00373707" "1" "00006" "00006" "2021-05-18 19:38:20" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "target gene panel" "0000374941" "00373708" "1" "00006" "00006" "2021-05-18 19:46:03" "" "" "SEQ" "DNA" "" "" "0000374942" "00373709" "1" "00006" "00006" "2021-05-18 19:53:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374943" "00373710" "1" "00006" "00006" "2021-05-18 19:57:02" "" "" "SEQ" "DNA" "" "" "0000374944" "00373711" "1" "00006" "00006" "2021-05-18 20:25:32" "" "" "SEQ" "DNA" "" "" "0000374945" "00373712" "1" "00006" "00006" "2021-05-18 20:30:57" "" "" "SEQ" "DNA" "" "" "0000375024" "00373791" "1" "00006" "00006" "2021-05-20 09:58:15" "" "" "SEQ" "DNA" "" "WES" "0000375026" "00373794" "1" "00006" "00006" "2021-05-20 17:00:22" "" "" "SEQ" "DNA" "" "" "0000375027" "00373795" "1" "00006" "00006" "2021-05-20 17:03:02" "" "" "SEQ" "DNA" "" "" "0000375028" "00373796" "1" "00006" "00006" "2021-05-20 17:05:38" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000002909" "SMPX" "0000059167" "SMPX" "0000112842" "SMPX" "0000117749" "SMPX" "0000286906" "SMPX" "0000374940" "SMPX" "0000374941" "SMPX" "0000374942" "SMPX" "0000374943" "SMPX" "0000374944" "SMPX" "0000374945" "SMPX" "0000375026" "SMPX" "0000375027" "SMPX" "0000375028" "SMPX" ## 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 = 32 "{{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}}" "0000006464" "20" "50" "X" "21756096" "21756096" "subst" "0" "00037" "SMPX_000001" "g.21756096T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.21737978T>A" "" "VUS" "" "0000006465" "20" "50" "X" "21775889" "21775889" "subst" "0" "00037" "SMPX_000003" "g.21775889C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.21757771C>G" "" "VUS" "" "0000008517" "20" "50" "X" "21775889" "21775889" "subst" "0" "00037" "SMPX_000003" "g.21775889C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.21757771C>G" "" "VUS" "" "0000014420" "20" "50" "X" "21756096" "21756096" "subst" "0" "00037" "SMPX_000001" "g.21756096T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.21737978T>A" "" "VUS" "" "0000021282" "1" "70" "X" "21761868" "21761868" "subst" "0.000398241" "00130" "SMPX_000004" "g.21761868C>T" "" "{PMID:Neveling 2013:24123792}" "" "" "possible splice mutation" "Unknown" "?" "" "" "" "" "g.21743750C>T" "" "likely pathogenic" "" "0000089987" "0" "50" "X" "21761935" "21761935" "subst" "0" "01551" "SMPX_000006" "g.21761935A>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.21743817A>T" "" "VUS" "" "0000129195" "0" "50" "X" "21761868" "21761868" "subst" "0.000398241" "01740" "SMPX_000004" "g.21761868C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.21743750C>T" "" "VUS" "" "0000163307" "0" "90" "X" "21755733" "21755733" "dup" "0" "01923" "SMPX_000007" "g.21755733dup" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.21737615dup" "" "pathogenic" "" "0000181469" "11" "70" "X" "21755816" "21755816" "subst" "0" "02200" "SMPX_000008" "g.21755816C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.21737698C>T" "" "likely pathogenic" "" "0000188751" "21" "90" "X" "21761868" "21761954" "" "0" "00110" "SMPX_000009" "g.(21755815_21761868)_(21761954_21772364)del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(21737697_21743750)_(21743836_21754246)del" "" "pathogenic" "" "0000308651" "0" "30" "X" "21761901" "21761901" "subst" "0" "01943" "SMPX_000010" "g.21761901G>T" "" "" "" "SMPX(NM_014332.3):c.99C>A (p.P33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21743783G>T" "" "likely benign" "" "0000333410" "0" "50" "X" "21761911" "21761911" "subst" "0" "01804" "SMPX_000011" "g.21761911C>T" "" "" "" "SMPX(NM_014332.2):c.89G>A (p.(Gly30Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21743793C>T" "" "VUS" "" "0000337504" "0" "30" "X" "21761868" "21761868" "subst" "0.000398241" "02327" "SMPX_000004" "g.21761868C>T" "" "" "" "SMPX(NM_014332.3):c.132G>A (p.E44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21743750C>T" "" "likely benign" "" "0000345531" "0" "90" "X" "21755734" "21755734" "subst" "0" "02327" "SMPX_000012" "g.21755734C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21737616C>A" "" "pathogenic" "" "0000351040" "0" "90" "X" "21772363" "21772363" "subst" "0" "02327" "SMPX_000013" "g.21772363C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21754245C>G" "" "pathogenic" "" "0000575264" "0" "50" "X" "21761935" "21761935" "subst" "0" "01943" "SMPX_000015" "g.21761935A>G" "" "" "" "SMPX(NM_014332.3):c.65T>C (p.M22T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21743817A>G" "" "VUS" "" "0000642648" "1" "70" "X" "21761868" "21761868" "subst" "0.000398241" "00004" "SMPX_000004" "g.21761868C>T" "" "{PMID:Neveling 2013:24123792}" "" "" "" "Germline" "" "" "0" "" "" "g.21743750C>T" "" "likely pathogenic (dominant)" "" "0000686210" "3" "90" "X" "21761873" "21761873" "subst" "0" "01807" "SMPX_000020" "g.21761873C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.21743755C>A" "" "pathogenic" "" "0000785852" "1" "90" "X" "21761891" "21761891" "subst" "0" "00006" "SMPX_000018" "g.21761891C>A" "" "{PMID:Huebner 2011:21549336}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21743773C>A" "" "pathogenic (dominant)" "" "0000785853" "1" "90" "X" "21755773" "21755773" "subst" "0" "00006" "SMPX_000016" "g.21755773C>A" "" "{PMID:Huebner 2011:21549336}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000785854" "1" "90" "X" "21755734" "21755734" "subst" "0" "00006" "SMPX_000012" "g.21755734C>A" "" "{PMID:Schraders 2011:21549342}, {PMID:Weegerink 2011:21893181}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21737616C>A" "" "pathogenic (dominant)" "" "0000785855" "1" "90" "X" "21761871" "21761871" "del" "0" "00006" "SMPX_000017" "g.21761871del" "" "{PMID:Schraders 2011:21549342}" "" "130delG" "" "Germline" "yes" "" "0" "" "" "g.21743753del" "" "pathogenic (dominant)" "" "0000785856" "1" "90" "X" "21761906" "21761906" "del" "0" "00006" "SMPX_000005" "g.21761906del" "" "{PMID:Abdelfatah 2013:22911656}" "" "99delC" "" "Germline" "yes" "" "0" "" "" "g.21743788del" "" "pathogenic (dominant)" "" "0000785857" "1" "90" "X" "21761906" "21761906" "del" "0" "00006" "SMPX_000005" "g.21761906del" "" "{PMID:Abdelfatah 2013:22911656}" "" "99delC" "" "Germline" "yes" "" "0" "" "" "g.21743788del" "" "pathogenic (dominant)" "" "0000786030" "10" "90" "X" "21755686" "21755686" "subst" "0" "00006" "SMPX_000022" "g.21755686G>C" "" "{PMID:Guo 2021:33708524}, {DOI:Guo 2021:10.21037/tp-20-435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21737568G>C" "" "pathogenic (dominant)" "" "0000786032" "21" "90" "X" "21755686" "21755686" "subst" "0" "00006" "SMPX_000022" "g.21755686G>C" "" "{PMID:Guo 2021:33708524}, {DOI:Guo 2021:10.21037/tp-20-435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21737568G>C" "" "pathogenic (dominant)" "" "0000786033" "21" "90" "X" "21755686" "21755686" "subst" "0" "00006" "SMPX_000022" "g.21755686G>C" "" "{PMID:Guo 2021:33708524}, {DOI:Guo 2021:10.21037/tp-20-435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21737568G>C" "" "pathogenic (dominant)" "" "0000786034" "11" "90" "X" "21755686" "21755686" "subst" "0" "00006" "SMPX_000022" "g.21755686G>C" "" "{PMID:Guo 2021:33708524}, {DOI:Guo 2021:10.21037/tp-20-435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21737568G>C" "" "pathogenic (dominant)" "" "0000867272" "0" "90" "X" "21772381" "21772381" "dup" "0" "02327" "SMPX_000023" "g.21772381dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896062" "0" "90" "X" "21772363" "21772363" "subst" "0" "02327" "SMPX_000024" "g.21772363C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000970973" "0" "50" "X" "21761868" "21761868" "subst" "0.000398241" "02325" "SMPX_000004" "g.21761868C>T" "" "" "" "SMPX(NM_014332.3):c.132G>A (p.E44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984604" "0" "50" "X" "21761911" "21761911" "subst" "0" "02327" "SMPX_000011" "g.21761911C>T" "" "" "" "SMPX(NM_014332.2):c.89G>A (p.(Gly30Asp))" "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 SMPX ## Count = 32 "{{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}}" "0000006464" "00025616" "50" "133" "-281" "133" "-281" "c.133-281A>T" "r.(=)" "p.(=)" "" "0000006465" "00025616" "50" "-13" "171" "-13" "171" "c.-13+171G>C" "r.(=)" "p.(=)" "" "0000008517" "00025616" "50" "-13" "171" "-13" "171" "c.-13+171G>C" "r.(=)" "p.(=)" "" "0000014420" "00025616" "50" "133" "-281" "133" "-281" "c.133-281A>T" "r.(=)" "p.(=)" "" "0000021282" "00025616" "70" "132" "0" "132" "0" "c.132G>A" "r.spl?" "p.(?)" "3" "0000089987" "00025616" "50" "65" "0" "65" "0" "c.65T>A" "r.(?)" "p.(Met22Lys)" "2" "0000129195" "00025616" "50" "132" "0" "132" "0" "c.132G>A" "r.spl?" "p.(?)" "3" "0000163307" "00025616" "90" "217" "0" "217" "0" "c.217dupA" "r.(?)" "p.(Ile73Asnfs*5)" "4" "0000181469" "00025616" "70" "133" "-1" "133" "-1" "c.133-1G>A" "r.spl" "p.?" "3i" "0000188751" "00025616" "90" "46" "-1" "132" "1" "c.(45+1_46-1)_(132+1_133-1)del" "r.?" "p.?" "2i_3i" "0000308651" "00025616" "30" "99" "0" "99" "0" "c.99C>A" "r.(?)" "p.(Pro33=)" "2" "0000333410" "00025616" "50" "89" "0" "89" "0" "c.89G>A" "r.(?)" "p.(Gly30Asp)" "2" "0000337504" "00025616" "30" "132" "0" "132" "0" "c.132G>A" "r.(?)" "p.(Glu44=)" "3" "0000345531" "00025616" "90" "214" "0" "214" "0" "c.214G>T" "r.(?)" "p.(Glu72Ter)" "4" "0000351040" "00025616" "90" "45" "1" "45" "1" "c.45+1G>C" "r.spl?" "p.?" "2i" "0000575264" "00025616" "50" "65" "0" "65" "0" "c.65T>C" "r.(?)" "p.(Met22Thr)" "2" "0000642648" "00025616" "70" "132" "0" "132" "0" "c.132G>A" "r.spl?" "p.(?)" "3" "0000686210" "00025616" "90" "127" "0" "127" "0" "c.127G>T" "r.(?)" "p.(Glu43Ter)" "3" "0000785852" "00025616" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "3" "0000785853" "00025616" "90" "175" "0" "175" "0" "c.175G>T" "r.(?)" "p.(Gly59*)" "4" "0000785854" "00025616" "90" "214" "0" "214" "0" "c.214G>T" "r.(?)" "p.(Glu72*)" "4" "0000785855" "00025616" "90" "130" "0" "130" "0" "c.130del" "r.(?)" "p.(Glu44Argfs*37)" "3" "0000785856" "00025616" "90" "99" "0" "99" "0" "c.99del" "r.(?)" "p.(Arg34Glufs*47)" "2" "0000785857" "00025616" "90" "99" "0" "99" "0" "c.99del" "r.(?)" "p.(Arg34Glufs*47)" "2" "0000786030" "00025616" "90" "262" "0" "262" "0" "c.262C>G" "r.(?)" "p.(Gln88Glu)" "4" "0000786032" "00025616" "90" "262" "0" "262" "0" "c.262C>G" "r.(?)" "p.(Gln88Glu)" "4" "0000786033" "00025616" "90" "262" "0" "262" "0" "c.262C>G" "r.(?)" "p.(Gln88Glu)" "4" "0000786034" "00025616" "90" "262" "0" "262" "0" "c.262C>G" "r.(?)" "p.(Gln88Glu)" "4" "0000867272" "00025616" "90" "29" "0" "29" "0" "c.29dup" "r.(?)" "p.(Asn10Lysfs*3)" "" "0000896062" "00025616" "90" "45" "1" "45" "1" "c.45+1G>A" "r.spl?" "p.?" "" "0000970973" "00025616" "50" "132" "0" "132" "0" "c.132G>A" "r.(?)" "p.(Glu44=)" "" "0000984604" "00025616" "50" "89" "0" "89" "0" "c.89G>A" "r.(?)" "p.(Gly30Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006464" "0000000209" "0000006465" "0000000210" "0000008517" "0000000210" "0000014420" "0000002909" "0000021282" "0000059167" "0000089987" "0000080241" "0000129195" "0000100916" "0000163307" "0000112842" "0000181469" "0000117749" "0000188751" "0000286906" "0000642648" "0000311034" "0000686210" "0000374940" "0000785852" "0000374941" "0000785853" "0000374942" "0000785854" "0000374943" "0000785855" "0000374944" "0000785856" "0000374945" "0000785857" "0000375024" "0000786030" "0000375026" "0000786032" "0000375027" "0000786033" "0000375028" "0000786034"