### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMN2) # 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}}" "SMN2" "survival of motor neuron 2, centromeric" "5" "q13.2" "unknown" "NG_008728.1" "UD_132119142762" "" "https://www.LOVD.nl/SMN2" "" "1" "11118" "6607" "601627" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SMN2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-05-10 11:04:17" "00006" "2024-09-13 17:31:48" ## 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}}" "00019462" "SMN2" "transcript variant d" "001" "NM_017411.3" "" "NP_059107.1" "" "" "" "-163" "1465" "885" "69345350" "69373422" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "" "" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00500" "SMA2" "atrophy, muscular, spinal, type II (SMA-2, infantile, chronic)" "AR" "253550" "" "" "" "00006" "2014-08-14 20:56:38" "00006" "2021-12-10 21:51:32" "00501" "SMA3" "atrophy, muscular, spinal, type III (SMA-3, juvenile, Wohlfart-Kugelberg-Welander disease)" "AR" "253400" "" "" "" "00006" "2014-08-14 20:57:26" "00006" "2021-12-10 21:51:32" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "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}}" "SMN2" "00501" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00234342" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00234355" "" "" "" "1" "" "00006" "{PMID:Prior 2009:19716110}" "" "F" "no" "United States" "" "0" "" "" "" "Pat1" "00234356" "" "" "" "1" "" "00006" "{PMID:Prior 2009:19716110}" "" "F" "" "United States" "" "0" "" "" "" "Pat2" "00234360" "" "" "" "1" "" "00006" "{PMID:Prior 2009:19716110}" "" "M" "" "United States" "" "0" "" "" "" "Pat3" "00234363" "" "" "" "1" "" "00006" "{PMID:Velasco 1996:8824882}" "unaffected carrier" "F" "" "Spain" "" "0" "" "" "" "" "00404971" "" "" "" "3" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404972" "" "" "" "4" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404974" "" "" "" "19" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404975" "" "" "" "5" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404976" "" "" "" "2" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404978" "" "" "" "22" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404979" "" "" "" "4" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404980" "" "" "" "2" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404981" "" "" "" "8" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404982" "" "" "" "15" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00413128" "" "" "" "1" "" "00006" "{PMID:Cerino 2022:35741838}" "analysis 82 myopathy patients" "" "" "Chile" "" "0" "" "" "" "P71/Myo138" "00426987" "" "" "" "1" "" "00006" "{PMID:Reiner 2022:36459106}" "carrier screening 73,755 controls" "" "" "United States" "" "0" "" "" "" "" "00426988" "" "" "" "1" "" "00006" "{PMID:Reiner 2022:36459106}" "carrier screening 73,755 controls" "" "" "United States" "" "0" "" "" "" "" "00454536" "" "" "" "1" "" "00006" "{PMID:Xie 2024:39198981}" "patient" "F" "" "China" "" "0" "" "not treated" "" "Pat281" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00234342" "00500" "00234355" "05123" "00234356" "05123" "00234360" "05123" "00234363" "00000" "00404971" "05123" "00404972" "05123" "00404974" "05123" "00404975" "05123" "00404976" "05123" "00404978" "05123" "00404979" "05123" "00404980" "05123" "00404981" "05123" "00404982" "05123" "00413128" "00244" "00426987" "00000" "00426988" "00000" "00454536" "05121" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00244, 00500, 00501, 05121, 05123 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000174773" "05123" "00234355" "00006" "Familial, autosomal recessive" "42y" "see paper; ..., normal early motor milestones, walking on toes, slow in grade school activities, often uses hand assist going up and down steps; high school slight weakness hips; disease declared itself in early 20s (falling); very slight levoscoliosis; SMA type IIIb" "" "" "" "" "" "" "" "SMA-3" "spinal muscular atrophy" "0000174775" "05123" "00234356" "00006" "Familial, autosomal recessive" "31y" "see paper; ..., early motor milestones normal (9m-crawl, 15m-stand with support, 18m-walk; 2–3 years gait unsteady, hold on to furniture while waking; 5-6y assisted ambulation; 12y-wheelchair dependent; 14y-scoliosis surgery" "03y" "" "" "" "" "" "" "SMA-3" "spinal muscular atrophy" "0000174778" "05123" "00234360" "00006" "Familial, autosomal recessive" "29y" "see paper; ..., SMA-IIIb" "" "" "" "" "" "" "" "SMA-3" "spinal muscular atrophy" "0000297529" "05123" "00404971" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297530" "05123" "00404972" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297532" "05123" "00404974" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297533" "05123" "00404975" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297534" "05123" "00404976" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297536" "05123" "00404978" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297537" "05123" "00404979" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297538" "05123" "00404980" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297539" "05123" "00404981" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000297540" "05123" "00404982" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "0000305109" "00244" "00413128" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "SMA3" "limb-girdle muscular weakness" "0000343191" "05121" "00454536" "00006" "Familial, autosomal recessive" "" "Difficulty in walking; positive Gowers\' sign; no hypertrophy gastrocnemius; limb muscle force 4; 10m walk 4.8 sec; no family history" "3y" "" "" "" "" "" "" "LGMD2J" "BMD/DMD" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000235455" "00234342" "1" "00006" "00006" "2019-05-10 11:03:11" "" "" "MLPA" "DNA" "" "" "0000235457" "00234355" "1" "00006" "00006" "2019-05-10 11:18:34" "00006" "2019-05-10 11:33:20" "PCRq;SEQ" "DNA" "" "" "0000235458" "00234356" "1" "00006" "00006" "2019-05-10 11:38:20" "" "" "PCR;SEQ" "DNA" "" "" "0000235462" "00234360" "1" "00006" "00006" "2019-05-10 11:47:56" "" "" "PCR;SEQ" "DNA" "" "" "0000235464" "00234363" "1" "00006" "00006" "2019-05-10 11:56:36" "" "" "SEQ;SSCA" "DNA" "" "" "0000406209" "00404971" "1" "00006" "00006" "2022-03-11 15:23:04" "" "" "MLPA;SEQ" "DNA" "" "" "0000406210" "00404972" "1" "00006" "00006" "2022-03-11 15:24:43" "" "" "MLPA;SEQ" "DNA" "" "" "0000406212" "00404974" "1" "00006" "00006" "2022-03-11 15:27:38" "" "" "MLPA;SEQ" "DNA" "" "" "0000406213" "00404975" "1" "00006" "00006" "2022-03-11 15:32:48" "" "" "MLPA;SEQ" "DNA" "" "" "0000406214" "00404976" "1" "00006" "00006" "2022-03-11 15:37:14" "" "" "MLPA;SEQ" "DNA" "" "" "0000406216" "00404978" "1" "00006" "00006" "2022-03-11 15:39:40" "" "" "MLPA;SEQ" "DNA" "" "" "0000406217" "00404979" "1" "00006" "00006" "2022-03-11 15:40:14" "" "" "MLPA;SEQ" "DNA" "" "" "0000406218" "00404980" "1" "00006" "00006" "2022-03-11 15:42:44" "" "" "MLPA;SEQ" "DNA" "" "" "0000406219" "00404981" "1" "00006" "00006" "2022-03-11 15:43:54" "" "" "MLPA;SEQ" "DNA" "" "" "0000406220" "00404982" "1" "00006" "00006" "2022-03-11 15:45:00" "" "" "MLPA;SEQ" "DNA" "" "" "0000414398" "00413128" "1" "00006" "00006" "2022-07-11 16:33:01" "00006" "2022-07-11 16:40:04" "MLPA;SEQ;SEQ-NG" "DNA" "" "gene panel" "0000428307" "00426987" "1" "00006" "00006" "2022-12-04 11:25:02" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000428308" "00426988" "1" "00006" "00006" "2022-12-04 11:25:02" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000456149" "00454536" "1" "00006" "00006" "2024-09-13 17:19:08" "" "" "MLPA;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 39 "{{screeningid}}" "{{geneid}}" "0000235455" "SMN1" "0000235455" "SMN2" "0000235457" "SMN1" "0000235457" "SMN2" "0000235458" "SMN1" "0000235458" "SMN2" "0000235462" "SMN1" "0000235462" "SMN2" "0000235464" "SMN2" "0000406209" "NAIP" "0000406209" "SMN1" "0000406209" "SMN2" "0000406210" "NAIP" "0000406210" "SMN1" "0000406210" "SMN2" "0000406212" "NAIP" "0000406212" "SMN1" "0000406212" "SMN2" "0000406213" "NAIP" "0000406213" "SMN1" "0000406213" "SMN2" "0000406214" "NAIP" "0000406214" "SMN1" "0000406214" "SMN2" "0000406216" "NAIP" "0000406216" "SMN1" "0000406216" "SMN2" "0000406217" "NAIP" "0000406217" "SMN1" "0000406217" "SMN2" "0000406218" "NAIP" "0000406218" "SMN1" "0000406218" "SMN2" "0000406219" "NAIP" "0000406219" "SMN1" "0000406219" "SMN2" "0000406220" "NAIP" "0000406220" "SMN1" "0000406220" "SMN2" ## 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 = 24 "{{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}}" "0000248555" "0" "10" "5" "69362949" "69362949" "subst" "0" "02325" "SMN2_000001" "g.69362949A>G" "" "" "" "SMN2(NM_017411.4):c.462A>G (p.Q154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70067122A>G" "" "benign" "" "0000478223" "0" "90" "5" "69372372" "69372372" "subst" "0.00324839" "00006" "SMN2_000003" "g.69372372G>C" "" "{PMID:Prior 2009:19716110}" "" "" "expression cloning mini-gene splicing construct shows significant increase exon 7 inclusion (from 0.50 to\r\n0.70)" "In vitro (cloned)" "-" "" "0" "" "" "g.70076545G>C" "" "NA" "" "0000478224" "3" "90" "5" "69372372" "69372372" "subst" "0.00324839" "00006" "SMN2_000003" "g.69372372G>C" "" "{PMID:Prior 2009:19716110}" "" "PCR deleted" "detected as deleted by PCR; predicted splice enhancer" "Germline" "" "" "0" "" "" "g.70076545G>C" "" "benign (!)" "" "0000478229" "1" "90" "5" "69372372" "69372372" "subst" "0.00324839" "00006" "SMN2_000003" "g.69372372G>C" "" "{PMID:Prior 2009:19716110}" "" "" "" "Germline" "" "" "0" "" "" "g.70076545G>C" "" "benign (!)" "" "0000478230" "2" "90" "5" "69372347" "69372402" "del" "0" "00006" "SMN2_000004" "g.(?_69372347)_(69372402_?)del" "" "{PMID:Prior 2009:19716110}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000478233" "1" "90" "5" "69345350" "69373422" "dup" "0" "00006" "SMN2_000002" "g.(?_69345350)_(69373422_?)dup" "" "{PMID:Prior 2009:19716110}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign (!)" "" "0000478234" "0" "90" "5" "69372372" "69372372" "subst" "0.00324839" "00006" "SMN2_000003" "g.69372372G>C" "" "{PMID:Prior 2009:19716110}" "" "" "" "Germline" "" "" "0" "" "" "g.70076545G>C" "" "benign (!)" "" "0000478236" "0" "50" "5" "69372372" "69372372" "subst" "0.00324839" "00006" "SMN2_000003" "g.69372372G>C" "" "{PMID:Velasco 1996:08824882}" "" "892g>c" "" "Germline" "" "" "0" "" "" "g.70076545G>C" "" "likely benign" "" "0000478239" "0" "90" "5" "69345350" "69373422" "dup" "0" "00006" "SMN2_000002" "g.(?_69345350)_(69373422_?)dup" "" "" "" "3 copies SMN2" "" "Germline" "" "" "0" "" "" "" "" "benign (!)" "" "0000842459" "3" "90" "5" "69345350" "69373422" "del" "0" "00006" "SMN2_000005" "g.(?_69345350)_(69373422_?)del" "3/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "del SMN2" "" "Germline" "" "" "0" "" "" "g.(?_70049523)_(70077595_?)del" "" "likely benign" "" "0000842462" "1" "90" "5" "69345350" "69373422" "del" "0" "00006" "SMN2_000005" "g.(?_69345350)_(69373422_?)del" "4/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "del SMN2" "" "Germline" "" "" "0" "" "" "g.(?_70049523)_(70077595_?)del" "" "likely benign" "" "0000842467" "1" "90" "5" "69345350" "69373422" "dup" "0" "00006" "SMN2_000002" "g.(?_69345350)_(69373422_?)dup" "19/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "dup SMN2" "" "Germline" "" "" "0" "" "" "g.(?_70049523)_(70077595_?)dup" "" "likely benign" "" "0000842470" "3" "90" "5" "69345350" "69373422" "dup" "0" "00006" "SMN2_000002" "g.(?_69345350)_(69373422_?)dup" "5/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "dup SMN2" "" "Germline" "" "" "0" "" "" "g.(?_70049523)_(70077595_?)dup" "" "likely benign" "" "0000842473" "1" "90" "5" "69345350" "69373422" "del" "0" "00006" "SMN2_000005" "g.(?_69345350)_(69373422_?)del" "2/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "del SMN2" "" "Germline" "" "" "0" "" "" "g.(?_70049523)_(70077595_?)del" "" "likely benign" "" "0000842478" "1" "90" "5" "69345350" "69373422" "dup" "0" "00006" "SMN2_000002" "g.(?_69345350)_(69373422_?)dup" "22/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "dup SMN2" "" "Germline" "" "" "0" "" "" "g.(?_70049523)_(70077595_?)dup" "" "likely benign" "" "0000842481" "3" "90" "5" "69345350" "69373422" "dup" "0" "00006" "SMN2_000002" "g.(?_69345350)_(69373422_?)dup" "4/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "dup SMN2" "" "Germline" "" "" "0" "" "" "g.(?_70049523)_(70077595_?)dup" "" "likely benign" "" "0000842484" "1" "90" "5" "69345350" "69373422" "dup" "0" "00006" "SMN2_000002" "g.(?_69345350)_(69373422_?)dup" "2/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "dup SMN2" "" "Germline" "" "" "0" "" "" "g.(?_70049523)_(70077595_?)dup" "" "likely benign" "" "0000842487" "3" "90" "5" "69345350" "69373422" "dup" "0" "00006" "SMN2_000002" "g.(?_69345350)_(69373422_?)dup" "8/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "dup SMN2" "" "Germline" "" "" "0" "" "" "g.(?_70049523)_(70077595_?)dup" "" "likely benign" "" "0000842489" "1" "90" "5" "69345350" "69373422" "dup" "0" "00006" "SMN2_000002" "g.(?_69345350)_(69373422_?)dup" "15/432 families SMA" "{PMID:Sharifi 2021:33481221}" "" "dup SMN2" "" "Germline" "" "" "0" "" "" "g.(?_70049523)_(70077595_?)dup" "" "likely benign" "" "0000872077" "1" "30" "5" "69345350" "69373422" "dup" "0" "00006" "SMN2_000002" "g.(?_69345350)_(69373422_?)dup" "" "{PMID:Cerino 2022:35741838}" "" "NM_017411.3:SMN2 3 copies" "" "Germline" "" "" "0" "" "" "g.(?_70049523)_(70077595_?)dup" "" "likely benign" "" "0000906056" "3" "90" "5" "69345350" "69373422" "dup" "0" "00006" "SMN2_000002" "g.(?_69345350)_(69373422_?)dup" "" "{PMID:Reiner 2022:36459106}" "" "dup SMN2 gene" "variant compensates SMN1 del ex7" "Germline" "" "" "0" "" "" "g.(?_70049523)_(70077595_?)dup" "" "benign (!)" "" "0000906057" "3" "90" "5" "69345350" "69373422" "dup" "0" "00006" "SMN2_000002" "g.(?_69345350)_(69373422_?)dup" "" "{PMID:Reiner 2022:36459106}" "" "" "variant compensates SMN1 del ex7" "Germline" "" "" "0" "" "" "g.(?_70049523)_(70077595_?)dup" "" "benign (!)" "" "0000976841" "0" "30" "5" "69372372" "69372372" "subst" "0.00324839" "01804" "SMN2_000003" "g.69372372G>C" "" "" "" "SMN2(NM_017411.4):c.859G>C (p.(Gly287Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001008345" "2" "90" "2" "179407482" "179407482" "subst" "0.000452127" "00006" "TTN_001020" "g.179407482G>A" "" "{PMID:Xie 2024:39198981}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.178542755G>A" "" "pathogenic" "" ## 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 SMN2 ## Count = 24 "{{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}}" "0000248555" "00019462" "10" "462" "0" "462" "0" "c.462A>G" "r.(?)" "p.(Gln154=)" "" "0000478223" "00019462" "90" "859" "0" "859" "0" "c.859G>C" "r.859g>c" "p.Gly287Arg" "" "0000478224" "00019462" "90" "859" "0" "859" "0" "c.859G>C" "r.(859g>c)" "p.(Gly287Arg)" "8" "0000478229" "00019462" "90" "859" "0" "859" "0" "c.859G>C" "r.(?)" "p.(Gly287Arg)" "" "0000478230" "00019462" "90" "835" "-1" "888" "1" "c.(?_835-1)_(*3+1_?)del" "r.0?" "p.0?" "_7i_8i_" "0000478233" "00019462" "90" "0" "0" "0" "0" "c.-163_*580[2]" "r.?" "p.?" "" "0000478234" "00019462" "90" "859" "0" "859" "0" "c.859G>C" "r.(?)" "p.(Gly287Arg)" "" "0000478236" "00019462" "50" "859" "0" "859" "0" "c.859G>C" "r.(?)" "p.(Gly287Arg)" "" "0000478239" "00019462" "90" "0" "0" "0" "0" "c.-163_*580[2]" "r.?" "p.?" "" "0000842459" "00019462" "90" "" "0" "" "0" "c.-163_*580{0}" "r.0" "p.0" "_1_9_" "0000842462" "00019462" "90" "0" "0" "0" "0" "c.-163_*580{0}" "r.0" "p.0" "_1_9_" "0000842467" "00019462" "90" "0" "0" "0" "0" "c.-163_*580{2}" "r.(=)" "p.(=)" "_1_9_" "0000842470" "00019462" "90" "0" "0" "0" "0" "c.-163_*580{2}" "r.(=)" "p.(=)" "_1_9_" "0000842473" "00019462" "90" "" "0" "" "0" "c.-163_*580{0}" "r.0" "p.0" "_1_9_" "0000842478" "00019462" "90" "" "0" "" "0" "c.-163_*580{2}" "r.(=)" "p.(=)" "_1_9_" "0000842481" "00019462" "90" "" "0" "" "0" "c.-163_*580{2}" "r.(=)" "p.(=)" "_1_9_" "0000842484" "00019462" "90" "" "0" "" "0" "c.-163_*580{2}" "r.(=)" "p.(=)" "_1_9_" "0000842487" "00019462" "90" "" "0" "" "0" "c.-163_*580{2}" "r.(=)" "p.(=)" "_1_9_" "0000842489" "00019462" "90" "" "0" "" "0" "c.-163_*580{2}" "r.(=)" "p.(=)" "_1_9_" "0000872077" "00019462" "30" "0" "0" "0" "0" "c.-163_*580{2}" "r.?" "p.?" "" "0000906056" "00019462" "90" "0" "0" "0" "0" "c.-163_*580{2}" "r.(=)" "p.(=)" "_1_9_" "0000906057" "00019462" "90" "0" "0" "0" "0" "c.-163_*580{2}" "r.(=)" "p.(=)" "_1_9_" "0000976841" "00019462" "30" "859" "0" "859" "0" "c.859G>C" "r.(?)" "p.(Gly287Arg)" "" "0001008345" "00019462" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000235455" "0000478239" "0000235457" "0000478224" "0000235458" "0000478229" "0000235458" "0000478230" "0000235462" "0000478233" "0000235462" "0000478234" "0000235464" "0000478236" "0000406209" "0000842459" "0000406210" "0000842462" "0000406212" "0000842467" "0000406213" "0000842470" "0000406214" "0000842473" "0000406216" "0000842478" "0000406217" "0000842481" "0000406218" "0000842484" "0000406219" "0000842487" "0000406220" "0000842489" "0000414398" "0000872077" "0000428307" "0000906056" "0000428308" "0000906057" "0000456149" "0001008345"