### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SIGMAR1) # 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}}" "SIGMAR1" "sigma non-opioid intracellular receptor 1" "9" "p13.3" "unknown" "NG_029945.2" "UD_132377411496" "" "https://www.LOVD.nl/SIGMAR1" "" "1" "8157" "10280" "601978" "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/SIGMAR1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-01-05 12:31:22" "00000" "2023-04-16 21:50:28" ## 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}}" "00018924" "SIGMAR1" "transcript variant 1" "002" "NM_005866.2" "" "NP_005857.1" "" "" "" "-74" "1581" "672" "34637768" "34634720" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03617" "ALS16" "sclerosis, lateral, amyotrophic, type 16, juvenile (ALS16)" "AR" "614373" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "05111" "HMN" "neuropathy, motor, distal, hereditary (HMN)" "" "" "" "" "" "00006" "2016-01-11 01:33:03" "00006" "2016-03-20 12:15:43" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SIGMAR1" "03617" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00078534" "" "" "" "1" "" "01604" "{PMID:Kim 2014:24684794}, {DOI:Kim 2014:10.1016/j.neurobiolaging.2014.03.001}" "No family history" "F" "" "" ">55y" "0" "" "" "Korean" "" "00094983" "" "" "" "2" "" "00006" "{PMID:Gregianin 2016:27402882}, {DOI:Gregianin 2016:10.1093/hmg/ddw220}" "3-generation family, 2 affected nieces, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "Italian, south" "" "00094985" "" "" "" "2" "" "00006" "{PMID:Gregianin 2016:27402882}, {DOI:Gregianin 2016:10.1093/hmg/ddw220}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "" "00134037" "" "" "" "6" "" "00006" "{PMID:Al-Saif 2011:21842496}" "4-generation family, 6 affecteds (2F, 4M), unaffected heterozygous carrier relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "21842496-FamALS002" "00207795" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00294848" "" "" "" "57" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374631" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4320" "00374632" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3676" "00374719" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-846" "00403771" "" "" "" "1" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404924" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families; 6-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "Fam6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00078534" "04255" "00094983" "05111" "00094985" "05111" "00134037" "04255" "00294848" "00198" "00374631" "00198" "00374632" "00198" "00374719" "00198" "00403771" "04255" "00404924" "05123" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03617, 04255, 05111, 05123 ## Count = 10 "{{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}}" "0000058310" "04255" "00078534" "01604" "Familial, autosomal dominant" "" "slowly progressive limb weakness (HP:0003690)" "47y" "" "" "" "" "" "" "" "" "" "" "0000073371" "05111" "00094983" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000073373" "05111" "00094985" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000106787" "04255" "00134037" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000155578" "00198" "00207795" "01164" "Unknown" "" "HP:0002527 (Falls); HP:0001288 (Gait disturbance); HP:0000762 (Decreased nerve conduction velocity); HP:0009130 (Hand muscle atrophy); HP:0003394 (Muscle cramps); HP:0001436 (Abnormality of the foot musculature); HP:0007010 (Poor fine motor coordination)" "" "" "" "" "" "" "" "" "" "" "" "0000269841" "00198" "00374631" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000269842" "00198" "00374632" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000269929" "00198" "00374719" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000296468" "04255" "00403771" "00435" "Familial, autosomal recessive" "20y" "The proband is a-20-year old boy. He is a normal product of pregnancy and delivery of a consanguineous marriage between his parents. He has a history of a-14-years old female cousin with similar condition and became wheel chair bound earlier at her third decade. The condition of the proband started at the age of 8 years as he developed progressive distal lower limbs’ weakness resulting in frequent falls, followed within a year by weakness in both upper limbs marked in the hands. He walks with support. Neurological examination revealed wasting of small muscles of the hands and forearms, legs and feet, weak hand grips (grade 3), weak elbow flexion (grade 4), weak ankle and toes flexors and extensors (grade: 2) and normal power in muscles of the shoulders, hips and knees. He has hyporeflexia. There was no tongue weakness or fasciculation but marked fissuring. There were no visible fascinations. Here is normal sensory system examination. No cranial nerve involvement or sphincter problems. Nerve conduction velocity study showed manifestations of chronic denervation." "08y" "" "" "" "" "" "" "" "ALS" "ALS" "" "0000297482" "05123" "00404924" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000078709" "00078534" "1" "01604" "01604" "2016-07-19 10:08:58" "" "" "SEQ" "DNA" "" "" "0000095382" "00094983" "1" "00006" "00006" "2017-01-05 12:56:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000095384" "00094985" "1" "00006" "00006" "2017-01-05 13:01:09" "" "" "SEQ" "DNA" "" "" "0000134875" "00134037" "1" "00006" "00006" "2017-11-17 22:39:32" "" "" "SEQ" "DNA" "" "" "0000208836" "00207795" "1" "01164" "01164" "2018-11-30 14:41:29" "" "" "SEQ-NG" "DNA" "" "" "0000296016" "00294848" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375825" "00374631" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375826" "00374632" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375913" "00374719" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000405008" "00403771" "1" "00435" "00435" "2022-02-22 13:46:59" "" "" "SEQ" "DNA" "blood" "" "0000406162" "00404924" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000078709" "SIGMAR1" "0000095382" "SIGMAR1" "0000095384" "SIGMAR1" "0000134875" "SIGMAR1" "0000375825" "SIGMAR1" "0000375826" "SIGMAR1" "0000375913" "DYNC1H1" "0000405008" "SIGMAR1" "0000406162" "SIGMAR1" ## 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 = 41 "{{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}}" "0000125810" "1" "50" "9" "34635571" "34635571" "subst" "2.5546E-5" "01604" "SIGMAR1_000001" "g.34635571A>G" "1/258 cases" "{PMID:Kim 2014:24684794}, {DOI:Kim 2014:10.1016/j.neurobiolaging.2014.03.001}" "" "" "not in 1454 control chromosomes" "Germline" "" "" "0" "" "" "g.34635574A>G" "" "VUS" "" "0000153931" "3" "90" "9" "34637027" "34637027" "subst" "0" "00006" "SIGMAR1_000002" "g.34637027C>G" "" "{PMID:Gregianin 2016:27402882}, {DOI:Gregianin 2016:10.1093/hmg/ddw220}" "" "" "genome-wide IBD study; no variants in HSPB1, HSPB8, BSCL2, IGHMBP2, GARS, HSPB3, HSJ1; not in 200 control chromosomes" "Germline" "yes" "" "0" "" "" "g.34637030C>G" "" "pathogenic" "" "0000153933" "3" "90" "9" "34635853" "34635853" "subst" "4.10543E-6" "00006" "SIGMAR1_000003" "g.34635853C>T" "" "{PMID:Gregianin 2016:27402882}, {DOI:Gregianin 2016:10.1093/hmg/ddw220}" "" "" "not in 200 control chromosomes" "Germline" "yes" "" "0" "" "" "g.34635856C>T" "" "pathogenic" "" "0000153935" "0" "90" "9" "34637027" "34637027" "subst" "0" "00006" "SIGMAR1_000002" "g.34637027C>G" "" "{PMID:Gregianin 2016:27402882}, {DOI:Gregianin 2016:10.1093/hmg/ddw220}" "" "" "expression cloning in different neuronal cells shows increased cell death, protein mislocalisation, impaired Ca2+ handling and induced p62 and LC3 aggregation" "In vitro (cloned)" "-" "" "0" "" "" "g.34637030C>G" "" "NA" "" "0000153936" "0" "90" "9" "34635853" "34635853" "subst" "4.10543E-6" "00006" "SIGMAR1_000003" "g.34635853C>T" "" "{PMID:Gregianin 2016:27402882}, {DOI:Gregianin 2016:10.1093/hmg/ddw220}" "" "" "expression cloning in different neuronal cells shows increased cell death, protein mislocalisation, impaired Ca2+ handling and induced p62 and LC3 aggregation" "In vitro (cloned)" "-" "" "0" "" "" "g.34635856C>T" "" "NA" "" "0000225070" "3" "90" "9" "34637265" "34637265" "subst" "0" "00006" "SIGMAR1_000004" "g.34637265C>G" "" "{PMID:Al-Saif 2011:21842496}" "" "" "homozygosity mapping" "Germline" "yes" "" "0" "" "" "g.34637268C>G" "" "pathogenic" "" "0000295844" "0" "10" "9" "34637690" "34637690" "subst" "0.202067" "02330" "SIGMAR1_000010" "g.34637690T>G" "" "" "" "SIGMAR1(NM_001282208.2):c.5A>C (p.Q2P), SIGMAR1(NM_005866.3):c.5A>C (p.Q2P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34637693T>G" "" "benign" "" "0000299472" "0" "50" "9" "34637580" "34637580" "subst" "0" "02329" "SIGMAR1_000008" "g.34637580G>A" "" "" "" "SIGMAR1(NM_001282208.2):c.115C>T (p.R39C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34637583G>A" "" "VUS" "" "0000299473" "0" "30" "9" "34637416" "34637416" "subst" "0.00479106" "02329" "SIGMAR1_000007" "g.34637416C>T" "" "" "" "SIGMAR1(NM_001282208.2):c.153G>A (p.G51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34637419C>T" "" "likely benign" "" "0000299474" "0" "30" "9" "34635749" "34635749" "subst" "0.016562" "02329" "SIGMAR1_000005" "g.34635749G>A" "" "" "" "SIGMAR1(NM_005866.4):c.552C>T (p.F184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34635752G>A" "" "likely benign" "" "0000299475" "0" "10" "9" "34637690" "34637690" "subst" "0.202067" "02329" "SIGMAR1_000010" "g.34637690T>G" "" "" "" "SIGMAR1(NM_001282208.2):c.5A>C (p.Q2P), SIGMAR1(NM_005866.3):c.5A>C (p.Q2P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34637693T>G" "" "benign" "" "0000299476" "0" "30" "9" "34637689" "34637689" "subst" "0.00144497" "02329" "SIGMAR1_000009" "g.34637689C>T" "" "" "" "SIGMAR1(NM_001282208.2):c.6G>A (p.Q2=), SIGMAR1(NM_005866.3):c.6G>A (p.Q2=), SIGMAR1(NM_005866.4):c.6G>A (p.Q2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34637692C>T" "" "likely benign" "" "0000308134" "0" "90" "9" "34635833" "34635848" "del" "0" "01943" "SIGMAR1_000006" "g.34635833_34635848del" "" "" "" "SIGMAR1(NM_005866.3):c.456_471delAGTACACGGGCCTGGT (p.V153Rfs*104)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34635836_34635851del" "" "pathogenic" "" "0000308135" "0" "10" "9" "34637690" "34637690" "subst" "0.202067" "01943" "SIGMAR1_000010" "g.34637690T>G" "" "" "" "SIGMAR1(NM_001282208.2):c.5A>C (p.Q2P), SIGMAR1(NM_005866.3):c.5A>C (p.Q2P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34637693T>G" "" "benign" "" "0000308136" "0" "30" "9" "34637689" "34637689" "subst" "0.00144497" "01943" "SIGMAR1_000009" "g.34637689C>T" "" "" "" "SIGMAR1(NM_001282208.2):c.6G>A (p.Q2=), SIGMAR1(NM_005866.3):c.6G>A (p.Q2=), SIGMAR1(NM_005866.4):c.6G>A (p.Q2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34637692C>T" "" "likely benign" "" "0000438822" "0" "50" "9" "34637322" "34637322" "subst" "1.75823E-5" "01164" "SIGMAR1_000012" "g.34637322A>G" "" "" "" "" "ACMG grading: PP3,PM2; co-occurrence with SIGMAR1 c.259G>C p.(Gly87Arg) het on second allele and CCT5 c.748A>G p.(Ile250Val) het" "Germline" "" "rs773344340" "0" "" "" "g.34637325A>G" "" "VUS" "ACMG" "0000438823" "0" "50" "9" "34637310" "34637310" "subst" "4.48451E-6" "01164" "SIGMAR1_000011" "g.34637310C>G" "" "" "" "" "ACMG grading: PP3,PM2; co-occurrence with SIGMAR1 c.247T>C p.(Phe83Leu) het on second allele and CCT5 c.748A>G p.(Ile250Val) het" "Germline" "" "rs768933234" "0" "" "" "g.34637313C>G" "" "VUS" "ACMG" "0000538026" "0" "30" "9" "34635620" "34635620" "subst" "0.000109869" "01943" "SIGMAR1_000013" "g.34635620C>G" "" "" "" "SIGMAR1(NM_001282205.1):c.463G>C (p.A155P), SIGMAR1(NM_005866.4):c.*9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34635623C>G" "" "likely benign" "" "0000538027" "0" "30" "9" "34635670" "34635670" "subst" "8.12513E-6" "01943" "SIGMAR1_000014" "g.34635670G>A" "" "" "" "SIGMAR1(NM_005866.3):c.631C>T (p.R211W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34635673G>A" "" "likely benign" "" "0000538028" "0" "30" "9" "34635679" "34635679" "subst" "0.00773849" "02329" "SIGMAR1_000015" "g.34635679G>A" "" "" "" "SIGMAR1(NM_005866.4):c.622C>T (p.R208W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34635682G>A" "" "likely benign" "" "0000538029" "0" "30" "9" "34635838" "34635838" "subst" "3.28186E-5" "02329" "SIGMAR1_000016" "g.34635838C>A" "" "" "" "SIGMAR1(NM_005866.4):c.463G>T (p.G155W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34635841C>A" "" "likely benign" "" "0000538030" "0" "30" "9" "34637665" "34637665" "subst" "0" "02330" "SIGMAR1_000017" "g.34637665C>A" "" "" "" "SIGMAR1(NM_001282208.2):c.30G>T (p.A10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34637668C>A" "" "likely benign" "" "0000612088" "0" "50" "9" "34635699" "34635699" "subst" "0" "02326" "SIGMAR1_000018" "g.34635699T>C" "" "" "" "SIGMAR1(NM_005866.4):c.602A>G (p.Y201C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34635702T>C" "" "VUS" "" "0000612089" "0" "10" "9" "34637329" "34637329" "subst" "0.00719965" "02329" "SIGMAR1_000020" "g.34637329C>T" "" "" "" "SIGMAR1(NM_001282208.2):c.240G>A (p.Q80=), SIGMAR1(NM_005866.4):c.240G>A (p.Q80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34637332C>T" "" "benign" "" "0000612090" "0" "50" "9" "34637558" "34637558" "subst" "0" "02326" "SIGMAR1_000021" "g.34637558G>T" "" "" "" "SIGMAR1(NM_005866.4):c.137C>A (p.A46E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34637561G>T" "" "VUS" "" "0000622255" "0" "10" "9" "34635749" "34635749" "subst" "0.016562" "02330" "SIGMAR1_000005" "g.34635749G>A" "" "" "" "SIGMAR1(NM_005866.4):c.552C>T (p.F184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34635752G>A" "" "benign" "" "0000622256" "0" "30" "9" "34637266" "34637266" "subst" "5.48354E-5" "02329" "SIGMAR1_000019" "g.34637266G>A" "" "" "" "SIGMAR1(NM_005866.4):c.303C>T (p.S101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34637269G>A" "" "likely benign" "" "0000622257" "0" "10" "9" "34637416" "34637416" "subst" "0.00479106" "02330" "SIGMAR1_000007" "g.34637416C>T" "" "" "" "SIGMAR1(NM_001282208.2):c.153G>A (p.G51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34637419C>T" "" "benign" "" "0000622258" "0" "30" "9" "34637689" "34637689" "subst" "0.00144497" "02330" "SIGMAR1_000009" "g.34637689C>T" "" "" "" "SIGMAR1(NM_001282208.2):c.6G>A (p.Q2=), SIGMAR1(NM_005866.3):c.6G>A (p.Q2=), SIGMAR1(NM_005866.4):c.6G>A (p.Q2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34637692C>T" "" "likely benign" "" "0000652705" "1" "10" "9" "34635679" "34635679" "subst" "0.00773849" "03575" "SIGMAR1_000015" "g.34635679G>A" "57/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "57 heterozygous, no homozygous; {DB:CLININrs11559048}" "Germline" "" "rs11559048" "0" "" "" "g.34635682G>A" "" "benign" "" "0000656347" "0" "30" "9" "34637529" "34637529" "subst" "0.000163355" "02329" "SIGMAR1_000022" "g.34637529C>T" "" "" "" "SIGMAR1(NM_005866.4):c.151+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34637532C>T" "" "likely benign" "" "0000787176" "3" "50" "9" "34635855" "34635855" "subst" "4.10576E-6" "00006" "SIGMAR1_000023" "g.34635855C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs546522200" "0" "" "" "g.34635858C>T" "" "VUS" "" "0000787177" "3" "50" "9" "34635855" "34635855" "subst" "4.10576E-6" "00006" "SIGMAR1_000023" "g.34635855C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs546522200" "0" "" "" "g.34635858C>T" "" "VUS" "" "0000787588" "3" "50" "9" "34635855" "34635855" "subst" "4.10576E-6" "00000" "SIGMAR1_000023" "g.34635855C>T" "" "0" "" "" "" "Germline" "" "rs546522200" "0" "" "" "g.34635858C>T" "" "VUS" "" "0000840995" "3" "90" "9" "34635709" "34635709" "subst" "0" "00435" "SIGMAR1_000024" "g.34635709T>G" "" "" "" "g.7059A>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842393" "3" "90" "9" "34637260" "34637260" "subst" "0" "00006" "SIGMAR1_000025" "g.34637260A>C" "" "{PMID:Sharifi 2021:33481221}" "" "" "" "Germline" "" "" "0" "" "" "g.34637263A>C" "" "pathogenic (recessive)" "ACMG" "0000861633" "0" "10" "9" "34637329" "34637329" "subst" "0.00719965" "02330" "SIGMAR1_000020" "g.34637329C>T" "" "" "" "SIGMAR1(NM_001282208.2):c.240G>A (p.Q80=), SIGMAR1(NM_005866.4):c.240G>A (p.Q80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888824" "0" "10" "9" "34635598" "34635598" "subst" "0.995688" "02330" "SIGMAR1_000026" "g.34635598T>C" "" "" "" "SIGMAR1(NR_104108.2):n.680A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888825" "0" "10" "9" "34635679" "34635679" "subst" "0.00773849" "02330" "SIGMAR1_000015" "g.34635679G>A" "" "" "" "SIGMAR1(NM_005866.4):c.622C>T (p.R208W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925037" "0" "30" "9" "34635620" "34635620" "subst" "0.000109869" "02330" "SIGMAR1_000013" "g.34635620C>G" "" "" "" "SIGMAR1(NM_001282205.1):c.463G>C (p.A155P), SIGMAR1(NM_005866.4):c.*9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925038" "0" "30" "9" "34637689" "34637689" "subst" "0.00144497" "02326" "SIGMAR1_000009" "g.34637689C>T" "" "" "" "SIGMAR1(NM_001282208.2):c.6G>A (p.Q2=), SIGMAR1(NM_005866.3):c.6G>A (p.Q2=), SIGMAR1(NM_005866.4):c.6G>A (p.Q2=)" "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 SIGMAR1 ## Count = 41 "{{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}}" "0000125810" "00018924" "50" "730" "0" "730" "0" "c.*58T>C" "r.(?)" "p.(=)" "4" "0000153931" "00018924" "90" "412" "0" "412" "0" "c.412G>C" "r.(?)" "p.(Glu138Gln)" "3" "0000153933" "00018924" "90" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Glu150Lys)" "4" "0000153935" "00018924" "90" "412" "0" "412" "0" "c.412G>C" "r.(?)" "p.Glu138Gln" "3" "0000153936" "00018924" "90" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.Glu150Lys" "4" "0000225070" "00018924" "90" "304" "0" "304" "0" "c.304G>C" "r.(?)" "p.(Glu102Gln)" "" "0000295844" "00018924" "10" "5" "0" "5" "0" "c.5A>C" "r.(?)" "p.(Gln2Pro)" "" "0000299472" "00018924" "50" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Arg39Cys)" "" "0000299473" "00018924" "30" "153" "0" "153" "0" "c.153G>A" "r.(?)" "p.(Gly51=)" "" "0000299474" "00018924" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Phe184=)" "" "0000299475" "00018924" "10" "5" "0" "5" "0" "c.5A>C" "r.(?)" "p.(Gln2Pro)" "" "0000299476" "00018924" "30" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Gln2=)" "" "0000308134" "00018924" "90" "456" "0" "471" "0" "c.456_471del" "r.(?)" "p.(Val153ArgfsTer104)" "" "0000308135" "00018924" "10" "5" "0" "5" "0" "c.5A>C" "r.(?)" "p.(Gln2Pro)" "" "0000308136" "00018924" "30" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Gln2=)" "" "0000438822" "00018924" "50" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.Phe83Leu" "" "0000438823" "00018924" "50" "259" "0" "259" "0" "c.259G>C" "r.(?)" "p.Gly87Arg" "" "0000538026" "00018924" "30" "681" "0" "681" "0" "c.*9G>C" "r.(=)" "p.(=)" "" "0000538027" "00018924" "30" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211Trp)" "" "0000538028" "00018924" "30" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Trp)" "" "0000538029" "00018924" "30" "463" "0" "463" "0" "c.463G>T" "r.(?)" "p.(Gly155Trp)" "" "0000538030" "00018924" "30" "30" "0" "30" "0" "c.30G>T" "r.(?)" "p.(Ala10=)" "" "0000612088" "00018924" "50" "602" "0" "602" "0" "c.602A>G" "r.(?)" "p.(Tyr201Cys)" "" "0000612089" "00018924" "10" "240" "0" "240" "0" "c.240G>A" "r.(?)" "p.(Gln80=)" "" "0000612090" "00018924" "50" "137" "0" "137" "0" "c.137C>A" "r.(?)" "p.(Ala46Glu)" "" "0000622255" "00018924" "10" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Phe184=)" "" "0000622256" "00018924" "30" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Ser101=)" "" "0000622257" "00018924" "10" "153" "0" "153" "0" "c.153G>A" "r.(?)" "p.(Gly51=)" "" "0000622258" "00018924" "30" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Gln2=)" "" "0000652705" "00018924" "10" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Trp)" "" "0000656347" "00018924" "30" "151" "15" "151" "15" "c.151+15G>A" "r.(=)" "p.(=)" "" "0000787176" "00018924" "50" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Gly149Glu)" "4" "0000787177" "00018924" "50" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Gly149Glu)" "4" "0000787588" "00018924" "50" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Gly149Glu)" "4" "0000840995" "00018924" "90" "592" "0" "592" "0" "c.592A>C" "r.(?)" "p.(Thr198Pro)" "4" "0000842393" "00018924" "90" "309" "0" "309" "0" "c.309T>G" "r.(?)" "p.(Tyr103Ter)" "" "0000861633" "00018924" "10" "240" "0" "240" "0" "c.240G>A" "r.(?)" "p.(Gln80=)" "" "0000888824" "00018924" "10" "703" "0" "703" "0" "c.*31=" "r.(=)" "p.(=)" "" "0000888825" "00018924" "10" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Trp)" "" "0000925037" "00018924" "30" "681" "0" "681" "0" "c.*9G>C" "r.(=)" "p.(=)" "" "0000925038" "00018924" "30" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Gln2=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000078709" "0000125810" "0000095382" "0000153931" "0000095384" "0000153933" "0000134875" "0000225070" "0000208836" "0000438822" "0000208836" "0000438823" "0000296016" "0000652705" "0000375825" "0000787176" "0000375826" "0000787177" "0000375913" "0000787588" "0000405008" "0000840995" "0000406162" "0000842393"