### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SGSM3) # 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}}" "SGSM3" "small G protein signaling modulator 3" "22" "q13.1-q13.2" "unknown" "NC_000022.10" "UD_132463016661" "" "https://www.LOVD.nl/SGSM3" "" "1" "25228" "27352" "610440" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SGSM3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-02-25 09:28:36" "00000" "2026-01-20 18:57:21" ## 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}}" "00018819" "SGSM3" "small G protein signaling modulator 3" "001" "NM_015705.4" "" "NP_056520.2" "" "" "" "-209" "2780" "2250" "40766595" "40806293" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00448251" "" "" "" "3" "" "00006" "{PMID:Birnbaum 2024:37833060}" "2-generation family, 3 affected brothers, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "jew-Ashkenazi" "FamAPatII2" "00448252" "" "" "00448251" "1" "" "00006" "{PMID:Birnbaum 2024:37833060}" "brother" "M" "" "United States" "" "0" "" "" "jew-Ashkenazi" "FamAPatII3" "00448253" "" "" "00448251" "1" "" "00006" "{PMID:Birnbaum 2024:37833060}" "brother" "M" "" "United States" "" "0" "" "" "jew-Ashkenazi" "FamAPatII8" "00448254" "" "" "" "3" "" "00006" "{PMID:Birnbaum 2024:37833060}" "3-generation family, affected sister/2 brothers, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "jew-Ashkenazi" "FamBPatII1" "00448255" "" "" "00448254" "1" "" "00006" "{PMID:Birnbaum 2024:37833060}" "brother" "M" "" "United States" "" "0" "" "" "jew-Ashkenazi" "FamBPatII2" "00448256" "" "" "00448254" "1" "" "00006" "{PMID:Birnbaum 2024:37833060}" "brother" "M" "" "United States" "" "0" "" "" "jew-Ashkenazi" "FamBPatII4" "00448257" "" "" "" "1" "" "00006" "{PMID:Birnbaum 2024:37833060}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "jew-Ashkenazi" "FamCPatII4" "00448258" "" "" "" "1" "" "00006" "{PMID:Birnbaum 2024:37833060}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "jew-Ashkenazi" "FamDPatII2" "00448259" "" "" "" "1" "" "00006" "{PMID:Birnbaum 2024:37833060}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "jew-Ashkenazi" "FamEPatII1" "00448260" "" "" "" "2" "" "00006" "{PMID:Birnbaum 2024:37833060}" "2-generation family, 2 affected sisters, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "jew-Ashkenazi" "FamFPatII2" "00448261" "" "" "00448260" "1" "" "00006" "{PMID:Birnbaum 2024:37833060}" "sister" "F" "" "United States" "" "0" "" "" "jew-Ashkenazi" "FamFPatII4" "00448262" "" "" "" "1" "" "00006" "{PMID:Birnbaum 2024:37833060}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "jew-Ashkenazi" "FamGPatII2" "00448263" "" "" "" "1" "" "00006" "{PMID:Birnbaum 2024:37833060}" "5-generation family, 1 affected, unaffected non-carrier parents" "F" "yes" "United States" "" "0" "" "" "jew-Ashkenazi" "FamHPatV4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00448251" "05611" "00448252" "05611" "00448253" "05611" "00448254" "05611" "00448255" "05611" "00448256" "05611" "00448257" "05611" "00448258" "05611" "00448259" "05611" "00448260" "05611" "00448261" "05611" "00448262" "05611" "00448263" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000337460" "05611" "00448251" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild global developmental delay, mild-moderate intellectual disability, hypotonia, behavioural challenges, short stature" "" "" "" "" "" "" "" "developmental delay, intellectual disability" "0000337461" "05611" "00448252" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild global developmental delay, mild-moderate intellectual disability, hypotonia, behavioural challenges, short stature" "" "" "" "" "" "" "" "developmental delay, intellectual disability" "0000337462" "05611" "00448253" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild global developmental delay, mild-moderate intellectual disability, hypotonia, behavioural challenges, short stature" "" "" "" "" "" "" "" "developmental delay, intellectual disability" "0000337463" "05611" "00448254" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild global developmental delay, mild-moderate intellectual disability, hypotonia, behavioural challenges, short stature" "" "" "" "" "" "" "" "developmental delay, intellectual disability" "0000337464" "05611" "00448255" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild global developmental delay, mild-moderate intellectual disability, hypotonia, behavioural challenges, short stature" "" "" "" "" "" "" "" "developmental delay, intellectual disability" "0000337465" "05611" "00448256" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild global developmental delay, mild-moderate intellectual disability, hypotonia, behavioural challenges, short stature" "" "" "" "" "" "" "" "developmental delay, intellectual disability" "0000337466" "05611" "00448257" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild global developmental delay, mild-moderate intellectual disability, hypotonia, behavioural challenges, short stature" "" "" "" "" "" "" "" "developmental delay, intellectual disability" "0000337467" "05611" "00448258" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild global developmental delay, mild-moderate intellectual disability, hypotonia, behavioural challenges, short stature" "" "" "" "" "" "" "" "developmental delay, intellectual disability" "0000337468" "05611" "00448259" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild global developmental delay, mild-moderate intellectual disability, hypotonia, behavioural challenges, short stature" "" "" "" "" "" "" "" "developmental delay, intellectual disability" "0000337469" "05611" "00448260" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild global developmental delay, mild-moderate intellectual disability, hypotonia, behavioural challenges, short stature" "" "" "" "" "" "" "" "developmental delay, intellectual disability" "0000337470" "05611" "00448261" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild global developmental delay, mild-moderate intellectual disability, hypotonia, behavioural challenges, short stature" "" "" "" "" "" "" "" "developmental delay, intellectual disability" "0000337471" "05611" "00448262" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild global developmental delay, mild-moderate intellectual disability, hypotonia, behavioural challenges, short stature" "" "" "" "" "" "" "" "developmental delay, intellectual disability" "0000337472" "05611" "00448263" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild global developmental delay, mild-moderate intellectual disability, hypotonia, behavioural challenges, short stature" "" "" "" "" "" "" "" "developmental delay, intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000449826" "00448251" "1" "00006" "00006" "2024-02-25 15:25:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449827" "00448252" "1" "00006" "00006" "2024-02-25 15:25:04" "" "" "SEQ" "DNA" "" "" "0000449828" "00448253" "1" "00006" "00006" "2024-02-25 15:25:04" "" "" "SEQ" "DNA" "" "" "0000449829" "00448254" "1" "00006" "00006" "2024-02-25 15:25:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449830" "00448255" "1" "00006" "00006" "2024-02-25 15:25:04" "" "" "SEQ" "DNA" "" "" "0000449831" "00448256" "1" "00006" "00006" "2024-02-25 15:25:04" "" "" "SEQ" "DNA" "" "" "0000449832" "00448257" "1" "00006" "00006" "2024-02-25 15:25:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449833" "00448258" "1" "00006" "00006" "2024-02-25 15:25:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000449834" "00448259" "1" "00006" "00006" "2024-02-25 15:25:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000449835" "00448260" "1" "00006" "00006" "2024-02-25 15:25:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000449836" "00448261" "1" "00006" "00006" "2024-02-25 15:25:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000449837" "00448262" "1" "00006" "00006" "2024-02-25 15:25:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000449838" "00448263" "1" "00006" "00006" "2024-02-25 15:25:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000449827" "SGSM3" "0000449828" "SGSM3" "0000449830" "SGSM3" "0000449831" "SGSM3" ## 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 = 67 "{{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}}" "0000291843" "0" "30" "22" "40816430" "40816430" "subst" "0.00309402" "01943" "MKL1_000005" "g.40816430C>T" "" "" "" "MRTFA(NM_001282662.2):c.1332G>A (p.P444=), MRTFA(NM_001282662.3):c.1332G>A (p.P444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40420426C>T" "" "likely benign" "" "0000291844" "0" "10" "22" "40814749" "40814749" "subst" "0" "01943" "MKL1_000004" "g.40814749C>T" "" "" "" "MRTFA(NM_001282662.2):c.1993G>A (p.A665T), MRTFA(NM_020831.6):c.1993G>A (p.A665T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40418745C>T" "" "benign" "" "0000291845" "0" "30" "22" "40814662" "40814662" "subst" "0.000555766" "01943" "MKL1_000003" "g.40814662C>T" "" "" "" "MRTFA(NM_001282662.2):c.2080G>A (p.A694T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40418658C>T" "" "likely benign" "" "0000291846" "0" "30" "22" "40814588" "40814588" "subst" "0" "01943" "MKL1_000002" "g.40814588G>A" "" "" "" "MRTFA(NM_001282662.2):c.2154C>T (p.P718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40418584G>A" "" "likely benign" "" "0000308022" "0" "50" "22" "40805297" "40805297" "del" "0" "01943" "SGSM3_000003" "g.40805297del" "" "" "" "SGSM3(NM_015705.6):c.2032delC (p.L678Cfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40409293del" "" "VUS" "" "0000572101" "0" "30" "22" "40813027" "40813027" "subst" "0" "02326" "MKL1_000007" "g.40813027C>T" "" "" "" "MRTFA(NM_001282662.3):c.2541G>A (p.Q847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40417023C>T" "" "likely benign" "" "0000572102" "0" "30" "22" "40814373" "40814373" "subst" "0.000242702" "01943" "MKL1_000008" "g.40814373G>A" "" "" "" "MRTFA(NM_001282662.2):c.2364+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418369G>A" "" "likely benign" "" "0000572103" "0" "30" "22" "40814545" "40814545" "subst" "0.000549133" "01943" "MKL1_000009" "g.40814545C>T" "" "" "" "MRTFA(NM_001282662.2):c.2197G>A (p.E733K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418541C>T" "" "likely benign" "" "0000572104" "0" "50" "22" "40814697" "40814697" "subst" "0" "01943" "MKL1_000010" "g.40814697G>C" "" "" "" "MRTFA(NM_001282662.2):c.2045C>G (p.S682C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418693G>C" "" "VUS" "" "0000572105" "0" "50" "22" "40814887" "40814887" "subst" "2.92217E-5" "01943" "MKL1_000011" "g.40814887C>T" "" "" "" "MRTFA(NM_001282662.2):c.1855G>A (p.E619K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418883C>T" "" "VUS" "" "0000572107" "0" "10" "22" "40815089" "40815089" "subst" "0.0483237" "02327" "MKL1_000013" "g.40815089G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40419085G>C" "" "benign" "" "0000572108" "0" "10" "22" "40815120" "40815120" "subst" "0.00232039" "01943" "MKL1_000014" "g.40815120A>C" "" "" "" "MKL1(NM_020831.3):c.1322T>G (p.(Val441Gly)), MRTFA(NM_001282662.2):c.1622T>G (p.V541G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40419116A>C" "" "benign" "" "0000572109" "0" "30" "22" "40816430" "40816430" "subst" "0.00309402" "02326" "MKL1_000005" "g.40816430C>T" "" "" "" "MRTFA(NM_001282662.2):c.1332G>A (p.P444=), MRTFA(NM_001282662.3):c.1332G>A (p.P444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40420426C>T" "" "likely benign" "" "0000572111" "0" "50" "22" "40816552" "40816552" "subst" "8.1684E-6" "01943" "MKL1_000016" "g.40816552C>T" "" "" "" "MRTFA(NM_001282662.2):c.1210G>A (p.G404R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40420548C>T" "" "VUS" "" "0000618607" "0" "70" "22" "40815091" "40815091" "dup" "0" "02327" "MKL1_000018" "g.40815091dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40419087dup" "" "likely pathogenic" "" "0000618608" "0" "30" "22" "40816430" "40816430" "subst" "0.00309402" "02325" "MKL1_000005" "g.40816430C>T" "" "" "" "MRTFA(NM_001282662.2):c.1332G>A (p.P444=), MRTFA(NM_001282662.3):c.1332G>A (p.P444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40420426C>T" "" "likely benign" "" "0000624310" "0" "30" "22" "40814486" "40814486" "subst" "0.000131612" "02326" "MKL1_000017" "g.40814486C>G" "" "" "" "MRTFA(NM_001282662.3):c.2256G>C (p.G752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418482C>G" "" "likely benign" "" "0000624311" "0" "30" "22" "40816443" "40816443" "subst" "0.000236206" "02326" "MKL1_000019" "g.40816443G>A" "" "" "" "MRTFA(NM_001282662.3):c.1319C>T (p.P440L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40420439G>A" "" "likely benign" "" "0000658961" "0" "30" "22" "40807907" "40807907" "subst" "5.04745E-5" "01943" "MKL1_000020" "g.40807907A>G" "" "" "" "MRTFA(NM_001282662.2):c.2593T>C (p.F865L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40411903A>G" "" "likely benign" "" "0000658962" "0" "30" "22" "40814585" "40814585" "subst" "0.000203526" "02326" "MKL1_000021" "g.40814585C>T" "" "" "" "MRTFA(NM_001282662.3):c.2157G>A (p.P719=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418581C>T" "" "likely benign" "" "0000658963" "0" "50" "22" "40814728" "40814728" "subst" "0" "01943" "MKL1_000022" "g.40814728C>T" "" "" "" "MRTFA(NM_001282662.2):c.2014G>A (p.G672S), MRTFA(NM_020831.6):c.2014G>A (p.G672S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418724C>T" "" "VUS" "" "0000658964" "0" "30" "22" "40814950" "40814950" "subst" "8.35792E-6" "01943" "MKL1_000023" "g.40814950C>G" "" "" "" "MRTFA(NM_001282662.2):c.1792G>C (p.V598L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418946C>G" "" "likely benign" "" "0000658965" "0" "30" "22" "40859226" "40859226" "subst" "4.06372E-6" "01943" "MKL1_000024" "g.40859226C>G" "" "" "" "MRTFA(NM_001282662.2):c.306G>C (p.P102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40463222C>G" "" "likely benign" "" "0000681898" "0" "50" "22" "40807902" "40807902" "subst" "5.72512E-5" "01943" "MKL1_000025" "g.40807902G>A" "" "" "" "MRTFA(NM_020831.5):c.2588C>T (p.A863V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681899" "0" "30" "22" "40814708" "40814708" "subst" "5.40319E-5" "02326" "MKL1_000026" "g.40814708C>T" "" "" "" "MRTFA(NM_001282662.3):c.2034G>A (p.E678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681900" "0" "50" "22" "40815138" "40815138" "subst" "5.11666E-6" "01943" "MKL1_000027" "g.40815138G>A" "" "" "" "MRTFA(NM_001282662.2):c.1604C>T (p.T535M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693202" "0" "50" "22" "40814763" "40814763" "subst" "4.27503E-5" "01943" "MKL1_000028" "g.40814763C>T" "" "" "" "MRTFA(NM_001282662.2):c.1979G>A (p.R660Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728177" "0" "30" "22" "40814752" "40814753" "ins" "0" "01943" "MKL1_000029" "g.40814752_40814753insTGCGGG" "" "" "" "MRTFA(NM_001282662.2):c.1994_1995insACCCGC (p.A669_P670dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728178" "0" "50" "22" "40814878" "40814878" "subst" "0.000300614" "02325" "MKL1_000030" "g.40814878C>T" "" "" "" "MRTFA(NM_020831.6):c.1864G>A (p.D622N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809640" "0" "50" "22" "40814839" "40814839" "subst" "0.000248183" "02325" "MKL1_000031" "g.40814839C>T" "" "" "" "MRTFA(NM_020831.6):c.1903G>A (p.E635K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809641" "0" "50" "22" "40815063" "40815063" "subst" "0.000149922" "02325" "MKL1_000032" "g.40815063C>T" "" "" "" "MRTFA(NM_020831.6):c.1679G>A (p.R560H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809642" "0" "50" "22" "40816857" "40816857" "subst" "0" "02325" "MKL1_000033" "g.40816857G>A" "" "" "" "MRTFA(NM_020831.6):c.1175C>T (p.P392L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856178" "0" "30" "22" "40859216" "40859216" "subst" "0" "02326" "MKL1_000037" "g.40859216G>C" "" "" "" "MRTFA(NM_020831.6):c.307+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866861" "0" "50" "22" "40807495" "40807495" "subst" "4.0857E-6" "01943" "MKL1_000034" "g.40807495C>T" "" "" "" "MRTFA(NM_001318139.1):c.2800G>A (p.V934M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866862" "0" "50" "22" "40813034" "40813034" "subst" "0" "01943" "MKL1_000035" "g.40813034C>T" "" "" "" "MRTFA(NM_001282662.2):c.2534G>A (p.S845N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866863" "0" "30" "22" "40814497" "40814497" "subst" "0.000978704" "01943" "MKL1_000036" "g.40814497G>T" "" "" "" "MRTFA(NM_001282662.2):c.2245C>A (p.L749I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895757" "0" "30" "22" "40814728" "40814728" "subst" "0" "02326" "MKL1_000022" "g.40814728C>T" "" "" "" "MRTFA(NM_001282662.2):c.2014G>A (p.G672S), MRTFA(NM_020831.6):c.2014G>A (p.G672S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895758" "0" "30" "22" "40816514" "40816514" "subst" "0" "02326" "MKL1_000038" "g.40816514G>A" "" "" "" "MRTFA(NM_020831.6):c.1248C>T (p.S416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895759" "0" "30" "22" "40816548" "40816548" "subst" "0.000236611" "02326" "MKL1_000039" "g.40816548G>T" "" "" "" "MRTFA(NM_020831.6):c.1214C>A (p.T405N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895760" "0" "30" "22" "40816955" "40816955" "subst" "0.000955623" "02326" "MKL1_000040" "g.40816955G>A" "" "" "" "MRTFA(NM_020831.6):c.1077C>T (p.Y359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895761" "0" "30" "22" "40820273" "40820273" "subst" "0.000829762" "02326" "MKL1_000041" "g.40820273C>T" "" "" "" "MRTFA(NM_020831.6):c.714G>A (p.P238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895762" "0" "30" "22" "40825598" "40825598" "subst" "4.46995E-5" "02326" "MKL1_000042" "g.40825598G>C" "" "" "" "MRTFA(NM_020831.6):c.601+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927181" "0" "30" "22" "40815245" "40815245" "subst" "0" "02326" "MKL1_000043" "g.40815245G>A" "" "" "" "MRTFA(NM_020831.6):c.1497C>T (p.I499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927182" "0" "30" "22" "40816502" "40816502" "subst" "2.03455E-5" "02326" "MKL1_000044" "g.40816502C>T" "" "" "" "MRTFA(NM_020831.6):c.1260G>A (p.S420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951614" "0" "10" "22" "40814749" "40814749" "subst" "0" "02326" "MKL1_000004" "g.40814749C>T" "" "" "" "MRTFA(NM_001282662.2):c.1993G>A (p.A665T), MRTFA(NM_020831.6):c.1993G>A (p.A665T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951615" "0" "30" "22" "40815074" "40815074" "subst" "0" "02326" "MKL1_000045" "g.40815074G>A" "" "" "" "MRTFA(NM_020831.6):c.1668C>T (p.T556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960324" "3" "90" "22" "40802462" "40802462" "dup" "0" "00006" "SGSM3_000004" "g.40802462dup" "" "{PMID:Birnbaum 2024:37833060}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40406458dup" "" "pathogenic (recessive)" "" "0000960325" "3" "90" "22" "40802462" "40802462" "dup" "0" "00006" "SGSM3_000004" "g.40802462dup" "" "{PMID:Birnbaum 2024:37833060}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40406458dup" "" "pathogenic (recessive)" "" "0000960326" "3" "90" "22" "40802462" "40802462" "dup" "0" "00006" "SGSM3_000004" "g.40802462dup" "" "{PMID:Birnbaum 2024:37833060}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40406458dup" "" "pathogenic (recessive)" "" "0000960327" "3" "90" "22" "40802462" "40802462" "dup" "0" "00006" "SGSM3_000004" "g.40802462dup" "" "{PMID:Birnbaum 2024:37833060}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40406458dup" "" "pathogenic (recessive)" "" "0000960328" "3" "90" "22" "40802462" "40802462" "dup" "0" "00006" "SGSM3_000004" "g.40802462dup" "" "{PMID:Birnbaum 2024:37833060}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40406458dup" "" "pathogenic (recessive)" "" "0000960329" "3" "90" "22" "40802462" "40802462" "dup" "0" "00006" "SGSM3_000004" "g.40802462dup" "" "{PMID:Birnbaum 2024:37833060}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40406458dup" "" "pathogenic (recessive)" "" "0000960330" "3" "90" "22" "40802462" "40802462" "dup" "0" "00006" "SGSM3_000004" "g.40802462dup" "" "{PMID:Birnbaum 2024:37833060}" "" "" "" "Germline" "" "" "0" "" "" "g.40406458dup" "" "pathogenic (recessive)" "" "0000960331" "3" "90" "22" "40802462" "40802462" "dup" "0" "00006" "SGSM3_000004" "g.40802462dup" "" "{PMID:Birnbaum 2024:37833060}" "" "" "" "Germline" "" "" "0" "" "" "g.40406458dup" "" "pathogenic (recessive)" "" "0000960332" "3" "90" "22" "40802462" "40802462" "dup" "0" "00006" "SGSM3_000004" "g.40802462dup" "" "{PMID:Birnbaum 2024:37833060}" "" "" "" "Germline" "" "" "0" "" "" "g.40406458dup" "" "pathogenic (recessive)" "" "0000960333" "3" "90" "22" "40802462" "40802462" "dup" "0" "00006" "SGSM3_000004" "g.40802462dup" "" "{PMID:Birnbaum 2024:37833060}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40406458dup" "" "pathogenic (recessive)" "" "0000960334" "3" "90" "22" "40802462" "40802462" "dup" "0" "00006" "SGSM3_000004" "g.40802462dup" "" "{PMID:Birnbaum 2024:37833060}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40406458dup" "" "pathogenic (recessive)" "" "0000960335" "3" "90" "22" "40802462" "40802462" "dup" "0" "00006" "SGSM3_000004" "g.40802462dup" "" "{PMID:Birnbaum 2024:37833060}" "" "" "" "Germline" "" "" "0" "" "" "g.40406458dup" "" "pathogenic (recessive)" "" "0000960336" "3" "91" "22" "40802462" "40802462" "dup" "0" "00006" "SGSM3_000004" "g.40802462dup" "" "{PMID:Birnbaum 2024:37833060}" "" "" "" "Germline" "" "" "0" "" "" "g.40406458dup" "" "pathogenic (recessive)" "" "0001006107" "0" "30" "22" "40815120" "40815120" "subst" "0.00232039" "01804" "MKL1_000014" "g.40815120A>C" "" "" "" "MKL1(NM_020831.3):c.1322T>G (p.(Val441Gly)), MRTFA(NM_001282662.2):c.1622T>G (p.V541G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043881" "0" "30" "22" "40801855" "40801855" "subst" "0.00227787" "01804" "MKL1_000046" "g.40801855C>T" "" "" "" "SGSM3(NM_015705.6):c.814+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043882" "0" "30" "22" "40804928" "40804928" "subst" "0.000547505" "01804" "MKL1_000047" "g.40804928C>T" "" "" "" "SGSM3(NM_015705.6):c.1903-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043883" "0" "50" "22" "40814748" "40814748" "subst" "0" "01804" "MKL1_000048" "g.40814748G>C" "" "" "" "MRTFA(NM_020831.6):c.1994C>G (p.(Ala665Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057170" "0" "50" "22" "40762518" "40762518" "subst" "1.21851E-5" "01804" "ADSL_000039" "g.40762518T>C" "" "" "" "ADSL(NM_000026.4):c.1447T>C (p.(Cys483Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057171" "0" "50" "22" "40805731" "40805731" "subst" "4.09779E-6" "01804" "MKL1_000049" "g.40805731C>T" "" "" "" "SGSM3(NM_015705.6):c.2218C>T (p.(His740Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067532" "0" "50" "22" "40807925" "40807925" "subst" "0" "02325" "MKL1_000050" "g.40807925A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067533" "0" "50" "22" "40814736" "40814736" "subst" "0" "02325" "MKL1_000051" "g.40814736G>A" "" "" "" "" "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 SGSM3 ## Count = 67 "{{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}}" "0000291843" "00018819" "30" "12917" "0" "12917" "0" "c.*10667C>T" "r.(=)" "p.(=)" "" "0000291844" "00018819" "10" "11236" "0" "11236" "0" "c.*8986C>T" "r.(=)" "p.(=)" "" "0000291845" "00018819" "30" "11149" "0" "11149" "0" "c.*8899C>T" "r.(=)" "p.(=)" "" "0000291846" "00018819" "30" "11075" "0" "11075" "0" "c.*8825G>A" "r.(=)" "p.(=)" "" "0000308022" "00018819" "50" "2032" "0" "2032" "0" "c.2032del" "r.(?)" "p.(Leu678CysfsTer52)" "" "0000572101" "00018819" "30" "9514" "0" "9514" "0" "c.*7264C>T" "r.(=)" "p.(=)" "" "0000572102" "00018819" "30" "10860" "0" "10860" "0" "c.*8610G>A" "r.(=)" "p.(=)" "" "0000572103" "00018819" "30" "11032" "0" "11032" "0" "c.*8782C>T" "r.(=)" "p.(=)" "" "0000572104" "00018819" "50" "11184" "0" "11184" "0" "c.*8934G>C" "r.(=)" "p.(=)" "" "0000572105" "00018819" "50" "11374" "0" "11374" "0" "c.*9124C>T" "r.(=)" "p.(=)" "" "0000572107" "00018819" "10" "11576" "0" "11576" "0" "c.*9326G>C" "r.(=)" "p.(=)" "" "0000572108" "00018819" "10" "11607" "0" "11607" "0" "c.*9357A>C" "r.(=)" "p.(=)" "" "0000572109" "00018819" "30" "12917" "0" "12917" "0" "c.*10667C>T" "r.(=)" "p.(=)" "" "0000572111" "00018819" "50" "13039" "0" "13039" "0" "c.*10789C>T" "r.(=)" "p.(=)" "" "0000618607" "00018819" "70" "11578" "0" "11578" "0" "c.*9328dup" "r.(?)" "p.(=)" "" "0000618608" "00018819" "30" "12917" "0" "12917" "0" "c.*10667C>T" "r.(=)" "p.(=)" "" "0000624310" "00018819" "30" "10973" "0" "10973" "0" "c.*8723C>G" "r.(=)" "p.(=)" "" "0000624311" "00018819" "30" "12930" "0" "12930" "0" "c.*10680G>A" "r.(=)" "p.(=)" "" "0000658961" "00018819" "30" "4394" "0" "4394" "0" "c.*2144A>G" "r.(=)" "p.(=)" "" "0000658962" "00018819" "30" "11072" "0" "11072" "0" "c.*8822C>T" "r.(=)" "p.(=)" "" "0000658963" "00018819" "50" "11215" "0" "11215" "0" "c.*8965C>T" "r.(=)" "p.(=)" "" "0000658964" "00018819" "30" "11437" "0" "11437" "0" "c.*9187C>G" "r.(=)" "p.(=)" "" "0000658965" "00018819" "30" "55713" "0" "55713" "0" "c.*53463C>G" "r.(=)" "p.(=)" "" "0000681898" "00018819" "50" "4389" "0" "4389" "0" "c.*2139G>A" "r.(=)" "p.(=)" "" "0000681899" "00018819" "30" "11195" "0" "11195" "0" "c.*8945C>T" "r.(=)" "p.(=)" "" "0000681900" "00018819" "50" "11625" "0" "11625" "0" "c.*9375G>A" "r.(=)" "p.(=)" "" "0000693202" "00018819" "50" "11250" "0" "11250" "0" "c.*9000C>T" "r.(=)" "p.(=)" "" "0000728177" "00018819" "30" "11239" "0" "11240" "0" "c.*8989_*8990insTGCGGG" "r.(=)" "p.(=)" "" "0000728178" "00018819" "50" "11365" "0" "11365" "0" "c.*9115C>T" "r.(=)" "p.(=)" "" "0000809640" "00018819" "50" "11326" "0" "11326" "0" "c.*9076C>T" "r.(=)" "p.(=)" "" "0000809641" "00018819" "50" "11550" "0" "11550" "0" "c.*9300C>T" "r.(=)" "p.(=)" "" "0000809642" "00018819" "50" "13344" "0" "13344" "0" "c.*11094G>A" "r.(=)" "p.(=)" "" "0000856178" "00018819" "30" "55703" "0" "55703" "0" "c.*53453G>C" "r.(=)" "p.(=)" "" "0000866861" "00018819" "50" "3982" "0" "3982" "0" "c.*1732C>T" "r.(=)" "p.(=)" "" "0000866862" "00018819" "50" "9521" "0" "9521" "0" "c.*7271C>T" "r.(=)" "p.(=)" "" "0000866863" "00018819" "30" "10984" "0" "10984" "0" "c.*8734G>T" "r.(=)" "p.(=)" "" "0000895757" "00018819" "30" "11215" "0" "11215" "0" "c.*8965C>T" "r.(=)" "p.(=)" "" "0000895758" "00018819" "30" "13001" "0" "13001" "0" "c.*10751G>A" "r.(=)" "p.(=)" "" "0000895759" "00018819" "30" "13035" "0" "13035" "0" "c.*10785G>T" "r.(=)" "p.(=)" "" "0000895760" "00018819" "30" "13442" "0" "13442" "0" "c.*11192G>A" "r.(=)" "p.(=)" "" "0000895761" "00018819" "30" "16760" "0" "16760" "0" "c.*14510C>T" "r.(=)" "p.(=)" "" "0000895762" "00018819" "30" "22085" "0" "22085" "0" "c.*19835G>C" "r.(=)" "p.(=)" "" "0000927181" "00018819" "30" "11732" "0" "11732" "0" "c.*9482G>A" "r.(=)" "p.(=)" "" "0000927182" "00018819" "30" "12989" "0" "12989" "0" "c.*10739C>T" "r.(=)" "p.(=)" "" "0000951614" "00018819" "10" "11236" "0" "11236" "0" "c.*8986C>T" "r.(=)" "p.(=)" "" "0000951615" "00018819" "30" "11561" "0" "11561" "0" "c.*9311G>A" "r.(=)" "p.(=)" "" "0000960324" "00018819" "90" "981" "0" "981" "0" "c.981dup" "r.(?)" "p.(Glu328ArgfsTer90)" "" "0000960325" "00018819" "90" "981" "0" "981" "0" "c.981dup" "r.(?)" "p.(Glu328ArgfsTer90)" "" "0000960326" "00018819" "90" "981" "0" "981" "0" "c.981dup" "r.(?)" "p.(Glu328ArgfsTer90)" "" "0000960327" "00018819" "90" "981" "0" "981" "0" "c.981dup" "r.(?)" "p.(Glu328ArgfsTer90)" "" "0000960328" "00018819" "90" "981" "0" "981" "0" "c.981dup" "r.(?)" "p.(Glu328ArgfsTer90)" "" "0000960329" "00018819" "90" "981" "0" "981" "0" "c.981dup" "r.(?)" "p.(Glu328ArgfsTer90)" "" "0000960330" "00018819" "90" "981" "0" "981" "0" "c.981dup" "r.(?)" "p.(Glu328ArgfsTer90)" "" "0000960331" "00018819" "90" "981" "0" "981" "0" "c.981dup" "r.(?)" "p.(Glu328ArgfsTer90)" "" "0000960332" "00018819" "90" "981" "0" "981" "0" "c.981dup" "r.(?)" "p.(Glu328ArgfsTer90)" "" "0000960333" "00018819" "90" "981" "0" "981" "0" "c.981dup" "r.(?)" "p.(Glu328ArgfsTer90)" "" "0000960334" "00018819" "90" "981" "0" "981" "0" "c.981dup" "r.(?)" "p.(Glu328ArgfsTer90)" "" "0000960335" "00018819" "90" "981" "0" "981" "0" "c.981dup" "r.(?)" "p.(Glu328ArgfsTer90)" "" "0000960336" "00018819" "91" "981" "0" "981" "0" "c.981dup" "r.(?)" "p.(Glu328ArgfsTer90)" "" "0001006107" "00018819" "30" "11607" "0" "11607" "0" "c.*9357A>C" "r.(=)" "p.(=)" "" "0001043881" "00018819" "30" "814" "7" "814" "7" "c.814+7C>T" "r.(=)" "p.(=)" "" "0001043882" "00018819" "30" "1903" "-9" "1903" "-9" "c.1903-9C>T" "r.(=)" "p.(=)" "" "0001043883" "00018819" "50" "11235" "0" "11235" "0" "c.*8985G>C" "r.(=)" "p.(=)" "" "0001057170" "00018819" "50" "-4286" "0" "-4286" "0" "c.-4286T>C" "r.(?)" "p.(=)" "" "0001057171" "00018819" "50" "2218" "0" "2218" "0" "c.2218C>T" "r.(?)" "p.(His740Tyr)" "" "0001067532" "00018819" "50" "4412" "0" "4412" "0" "c.*2162A>C" "r.(=)" "p.(=)" "" "0001067533" "00018819" "50" "11223" "0" "11223" "0" "c.*8973G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000449826" "0000960324" "0000449827" "0000960325" "0000449828" "0000960326" "0000449829" "0000960327" "0000449830" "0000960328" "0000449831" "0000960329" "0000449832" "0000960330" "0000449833" "0000960331" "0000449834" "0000960332" "0000449835" "0000960333" "0000449836" "0000960334" "0000449837" "0000960335" "0000449838" "0000960336"