### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SP110) # 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}}" "SP110" "SP110 nuclear body protein" "2" "q37.1" "unknown" "LRG_109" "UD_132048705393" "" "https://www.LOVD.nl/SP110" "" "1" "5401" "3431" "604457" "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/SP110_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-21 17:15:31" "00006" "2026-06-25 14:26:12" ## 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}}" "00020065" "SP110" "transcript variant c" "002" "NM_080424.2" "" "NP_536349.2" "" "" "" "-240" "2348" "2142" "231084827" "231033634" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01839" "VODI" "Hepatic venoocclusive disease with immunodeficiency" "AR" "235550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02727" "-" "Mycobacterium tuberculosis, susceptibility to" "" "607948" "" "" "" "00006" "2014-09-25 23:29:40" "" "" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SP110" "01839" "SP110" "02727" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00292629" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292630" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304795" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00433041" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "United States" "" "0" "" "" "" "Pat8,1" "00480083" "" "" "" "1" "" "04998" "" "" "" "" "Italy" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00292629" "00198" "00292630" "00198" "00304795" "00198" "00433041" "05292" "00480083" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01839, 02727, 05292 ## Count = 2 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000323567" "05292" "00433041" "00006" "Familial, autosomal recessive" "" "antibody deficiency including hyper IgM syndrome" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000364588" "00198" "00480083" "04998" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DiGeorge syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293797" "00292629" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293798" "00292630" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305924" "00304795" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000434472" "00433041" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000481729" "00480083" "1" "04998" "04998" "2026-06-25 13:20:36" "" "" "?" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000481729" "TBX1" ## 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 = 52 "{{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}}" "0000248850" "0" "10" "2" "231042276" "231042276" "subst" "0.4202" "02325" "SP110_000006" "g.231042276A>G" "" "" "" "SP110(NM_080424.4):c.1568T>C (p.M523T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230177560A>G" "" "benign" "" "0000298440" "0" "10" "2" "231036866" "231036866" "subst" "0.0951802" "02325" "SP110_000002" "g.231036866G>A" "" "" "" "SP110(NM_080424.4):c.1731C>T (p.C577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230172150G>A" "" "benign" "" "0000298441" "0" "10" "2" "231036768" "231036768" "subst" "0.0976888" "02325" "SP110_000001" "g.231036768T>C" "" "" "" "SP110(NM_080424.4):c.1815+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230172052T>C" "" "benign" "" "0000298442" "0" "10" "2" "231072709" "231072709" "subst" "0.685572" "02325" "SP110_000010" "g.231072709C>T" "" "" "" "SP110(NM_080424.4):c.895G>A (p.G299R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230207994C>T" "" "benign" "" "0000302403" "0" "30" "2" "231065630" "231065630" "subst" "0.00376551" "02326" "SP110_000009" "g.231065630G>A" "" "" "" "SP110(NM_004509.4):c.1100C>T (p.T367M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230200914G>A" "" "likely benign" "" "0000302404" "0" "10" "2" "231042873" "231042873" "subst" "0.00779795" "02326" "SP110_000008" "g.231042873C>T" "" "" "" "SP110(NM_004509.4):c.1447G>A (p.G483R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230178157C>T" "" "benign" "" "0000302405" "0" "10" "2" "231037684" "231037684" "subst" "0.000578539" "02326" "SP110_000005" "g.231037684G>A" "" "" "" "SP110(NM_004509.4):c.1591-9C>T, SP110(NM_080424.2):c.1591-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230172968G>A" "" "benign" "" "0000302406" "0" "10" "2" "231077683" "231077683" "subst" "0.016654" "02326" "SP110_000011" "g.231077683C>T" "" "" "" "SP110(NM_080424.2):c.376G>A (p.G126S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230212968C>T" "" "benign" "" "0000308742" "0" "10" "2" "231042802" "231042802" "subst" "0" "01943" "SP110_000007" "g.231042802C>T" "" "" "" "SP110(NM_080424.2):c.1447+71G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230178086C>T" "" "benign" "" "0000308743" "0" "30" "2" "231037684" "231037684" "subst" "0.000578539" "01943" "SP110_000005" "g.231037684G>A" "" "" "" "SP110(NM_004509.4):c.1591-9C>T, SP110(NM_080424.2):c.1591-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230172968G>A" "" "likely benign" "" "0000308744" "0" "50" "2" "231037606" "231037606" "subst" "2.03089E-5" "01943" "SP110_000004" "g.231037606G>C" "" "" "" "SP110(NM_080424.2):c.1660C>G (p.R554G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230172890G>C" "" "VUS" "" "0000308745" "0" "50" "2" "231037556" "231037556" "subst" "0.000756479" "01943" "SP110_000003" "g.231037556T>A" "" "" "" "SP110(NM_004509.4):c.1706+4A>T, SP110(NM_080424.2):c.1706+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230172840T>A" "" "VUS" "" "0000515019" "0" "30" "2" "231035410" "231035410" "subst" "3.24894E-5" "01943" "SP110_000012" "g.231035410G>A" "" "" "" "SP110(NM_080424.2):c.1955C>T (p.T652M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230170694G>A" "" "likely benign" "" "0000515020" "0" "10" "2" "231037619" "231037619" "subst" "0.00155162" "01943" "SP110_000013" "g.231037619G>A" "" "" "" "SP110(NM_004509.4):c.1647C>T (p.C549=), SP110(NM_080424.2):c.1647C>T (p.C549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230172903G>A" "" "benign" "" "0000515021" "0" "30" "2" "231042244" "231042244" "subst" "4.06095E-6" "02326" "SP110_000014" "g.231042244A>T" "" "" "" "SP110(NM_004509.4):c.1590+10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230177528A>T" "" "likely benign" "" "0000515022" "0" "30" "2" "231042380" "231042380" "subst" "0.00502462" "02326" "SP110_000015" "g.231042380G>A" "" "" "" "SP110(NM_004509.4):c.1464C>T (p.C488=), SP110(NM_080424.2):c.1464C>T (p.C488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230177664G>A" "" "likely benign" "" "0000515023" "0" "30" "2" "231048298" "231048298" "subst" "0" "01943" "SP110_000016" "g.231048298A>C" "" "" "" "SP110(NM_080424.2):c.1338T>G (p.I446M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230183582A>C" "" "likely benign" "" "0000515024" "0" "30" "2" "231048312" "231048312" "subst" "0.000463196" "01943" "SP110_000017" "g.231048312A>G" "" "" "" "SP110(NM_080424.2):c.1324T>C (p.F442L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230183596A>G" "" "likely benign" "" "0000515025" "0" "10" "2" "231050715" "231050715" "subst" "0.889272" "02325" "SP110_000018" "g.231050715A>G" "" "" "" "SP110(NM_080424.4):c.1274T>C (p.L425S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000515026" "0" "30" "2" "231077155" "231077155" "subst" "0.00199615" "01943" "SP110_000019" "g.231077155G>C" "" "" "" "SP110(NM_004509.4):c.584-10C>G, SP110(NM_080424.2):c.584-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230212440G>C" "" "likely benign" "" "0000515027" "0" "30" "2" "231077155" "231077155" "subst" "0.00199615" "02326" "SP110_000019" "g.231077155G>C" "" "" "" "SP110(NM_004509.4):c.584-10C>G, SP110(NM_080424.2):c.584-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230212440G>C" "" "likely benign" "" "0000515028" "0" "30" "2" "231077540" "231077540" "subst" "0.000117831" "02326" "SP110_000020" "g.231077540C>T" "" "" "" "SP110(NM_004509.4):c.519G>A (p.S173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230212825C>T" "" "likely benign" "" "0000515029" "0" "10" "2" "231077725" "231077725" "subst" "0.909554" "02325" "SP110_000021" "g.231077725A>G" "" "" "" "SP110(NM_080424.4):c.334T>C (p.W112R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000515030" "0" "30" "2" "231086402" "231086402" "subst" "7.71224E-6" "02326" "SP110_000022" "g.231086402A>T" "" "" "" "SP110(NM_001185015.2):c.17+18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230221687A>T" "" "likely benign" "" "0000607808" "0" "30" "2" "231035359" "231035359" "subst" "0.00325319" "01804" "SP110_000023" "g.231035359C>T" "" "" "" "SP110(NM_004509.3):c.1934G>A (p.(Arg645His)), SP110(NM_004509.4):c.1934G>A (p.R645H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230170643C>T" "" "likely benign" "" "0000607809" "0" "30" "2" "231042380" "231042380" "subst" "0.00502462" "01943" "SP110_000015" "g.231042380G>A" "" "" "" "SP110(NM_004509.4):c.1464C>T (p.C488=), SP110(NM_080424.2):c.1464C>T (p.C488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230177664G>A" "" "likely benign" "" "0000607810" "0" "10" "2" "231077112" "231077112" "subst" "0.214053" "02326" "SP110_000024" "g.231077112G>A" "" "" "" "SP110(NM_004509.4):c.617C>T (p.A206V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230212397G>A" "" "benign" "" "0000650486" "1" "30" "2" "231042873" "231042873" "subst" "0.00779795" "03575" "SP110_000008" "g.231042873C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs149485401}" "Germline" "" "rs149485401" "0" "" "" "g.230178157C>T" "" "likely benign" "" "0000650487" "1" "30" "2" "231077683" "231077683" "subst" "0.016654" "03575" "SP110_000011" "g.231077683C>T" "28/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "28 heterozygous; {DB:CLININrs41309088}" "Germline" "" "rs41309088" "0" "" "" "g.230212968C>T" "" "likely benign" "" "0000669612" "3" "30" "2" "231077683" "231077683" "subst" "0.016654" "03575" "SP110_000011" "g.231077683C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs41309088}" "Germline" "" "rs41309088" "0" "" "" "g.230212968C>T" "" "likely benign" "" "0000676542" "0" "30" "2" "231077461" "231077461" "subst" "1.21931E-5" "02326" "SP110_000025" "g.231077461G>A" "" "" "" "SP110(NM_004509.4):c.583+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676543" "0" "30" "2" "231079732" "231079732" "subst" "0" "02326" "SP110_000026" "g.231079732T>C" "" "" "" "SP110(NM_004509.4):c.249A>G (p.T83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688685" "0" "30" "2" "231037540" "231037540" "subst" "0.00064453" "02326" "SP110_000027" "g.231037540C>T" "" "" "" "SP110(NM_080424.2):c.1706+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688686" "0" "30" "2" "231067365" "231067365" "subst" "0.000292398" "02326" "SP110_000028" "g.231067365A>C" "" "" "" "SP110(NM_080424.2):c.978T>G (p.T326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718607" "0" "30" "2" "231036795" "231036795" "subst" "8.12493E-6" "01943" "SP110_000029" "g.231036795G>A" "" "" "" "SP110(NM_080424.2):c.1802C>T (p.P601L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800467" "0" "30" "2" "231033864" "231033864" "subst" "6.49883E-5" "02326" "SP110_000030" "g.231033864G>A" "" "" "" "SP110(NM_004509.4):c.2046C>T (p.D682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800468" "0" "30" "2" "231036840" "231036840" "subst" "2.43726E-5" "01943" "SP110_000031" "g.231036840T>C" "" "" "" "SP110(NM_080424.2):c.1757A>G (p.Q586R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800469" "0" "30" "2" "231042877" "231042877" "subst" "3.68032E-5" "01943" "SP110_000032" "g.231042877T>C" "" "" "" "SP110(NM_080424.2):c.1443A>G (p.K481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800470" "0" "50" "2" "231050764" "231050764" "subst" "2.03059E-5" "01943" "SP110_000033" "g.231050764T>A" "" "" "" "SP110(NM_080424.2):c.1225A>T (p.M409L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800471" "0" "30" "2" "231067313" "231067313" "subst" "2.03062E-5" "01943" "SP110_000034" "g.231067313G>C" "" "" "" "SP110(NM_080424.2):c.1030C>G (p.R344G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800472" "0" "50" "2" "231086432" "231086432" "subst" "0" "01943" "SP110_000035" "g.231086432C>T" "" "" "" "SP110(NM_001185015.1):c.5G>A (p.G2E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849786" "0" "30" "2" "231067354" "231067354" "subst" "0.000934321" "02326" "SP110_000036" "g.231067354G>A" "" "" "" "SP110(NM_004509.4):c.989C>T (p.T330M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849787" "0" "30" "2" "231077517" "231077517" "subst" "0.00133663" "02326" "SP110_000037" "g.231077517A>C" "" "" "" "SP110(NM_004509.4):c.542T>G (p.L181R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885008" "0" "30" "2" "231077600" "231077600" "subst" "0.000239734" "02326" "SP110_000038" "g.231077600C>T" "" "" "" "SP110(NM_004509.4):c.459G>A (p.A153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911633" "0" "30" "2" "231035359" "231035359" "subst" "0.00325319" "02326" "SP110_000023" "g.231035359C>T" "" "" "" "SP110(NM_004509.3):c.1934G>A (p.(Arg645His)), SP110(NM_004509.4):c.1934G>A (p.R645H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920232" "3" "90" "2" "231076250" "231076250" "dup" "0" "00006" "SP110_000039" "g.231076250dup" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "586dupT (Q231fs)" "" "Germline" "" "" "0" "" "" "g.230211535dup" "" "pathogenic" "ACMG" "0000923652" "0" "70" "2" "231077724" "231077724" "subst" "5.33311E-5" "02326" "SP110_000040" "g.231077724C>T" "" "" "" "SP110(NM_004509.4):c.335G>A (p.W112*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928555" "0" "30" "2" "231037556" "231037556" "subst" "0.000756479" "02326" "SP110_000003" "g.231037556T>A" "" "" "" "SP110(NM_004509.4):c.1706+4A>T, SP110(NM_080424.2):c.1706+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928556" "0" "30" "2" "231037619" "231037619" "subst" "0.00155162" "02326" "SP110_000013" "g.231037619G>A" "" "" "" "SP110(NM_004509.4):c.1647C>T (p.C549=), SP110(NM_080424.2):c.1647C>T (p.C549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928557" "0" "30" "2" "231077541" "231077541" "subst" "1.21885E-5" "02326" "SP110_000041" "g.231077541G>A" "" "" "" "SP110(NM_004509.4):c.518C>T (p.S173L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928558" "0" "30" "2" "231079731" "231079731" "subst" "0" "02326" "SP110_000042" "g.231079731A>G" "" "" "" "SP110(NM_004509.4):c.250T>C (p.L84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001078582" "21" "30" "2" "231042313" "231042313" "subst" "6.90451E-5" "04998" "SP110_000043" "g.231042313C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.230177597C>T" "RCV005742304.1" "likely benign" "ACMG" ## 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 SP110 ## Count = 52 "{{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}}" "0000248850" "00020065" "10" "1568" "0" "1568" "0" "c.1568T>C" "r.(?)" "p.(Met523Thr)" "" "0000298440" "00020065" "10" "1731" "0" "1731" "0" "c.1731C>T" "r.(?)" "p.(Cys577=)" "" "0000298441" "00020065" "10" "1815" "14" "1815" "14" "c.1815+14A>G" "r.(=)" "p.(=)" "" "0000298442" "00020065" "10" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Gly299Arg)" "" "0000302403" "00020065" "30" "1100" "0" "1100" "0" "c.1100C>T" "r.(?)" "p.(Thr367Met)" "" "0000302404" "00020065" "10" "1447" "0" "1447" "0" "c.1447G>A" "r.(?)" "p.(Gly483Arg)" "" "0000302405" "00020065" "10" "1591" "-9" "1591" "-9" "c.1591-9C>T" "r.(=)" "p.(=)" "" "0000302406" "00020065" "10" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Gly126Ser)" "" "0000308742" "00020065" "10" "1447" "71" "1447" "71" "c.1447+71G>A" "r.(=)" "p.(=)" "" "0000308743" "00020065" "30" "1591" "-9" "1591" "-9" "c.1591-9C>T" "r.(=)" "p.(=)" "" "0000308744" "00020065" "50" "1660" "0" "1660" "0" "c.1660C>G" "r.(?)" "p.(Arg554Gly)" "" "0000308745" "00020065" "50" "1706" "4" "1706" "4" "c.1706+4A>T" "r.spl?" "p.?" "" "0000515019" "00020065" "30" "1955" "0" "1955" "0" "c.1955C>T" "r.(?)" "p.(Thr652Met)" "" "0000515020" "00020065" "10" "1647" "0" "1647" "0" "c.1647C>T" "r.(?)" "p.(Cys549=)" "" "0000515021" "00020065" "30" "1590" "10" "1590" "10" "c.1590+10T>A" "r.(=)" "p.(=)" "" "0000515022" "00020065" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Cys488=)" "" "0000515023" "00020065" "30" "1338" "0" "1338" "0" "c.1338T>G" "r.(?)" "p.(Ile446Met)" "" "0000515024" "00020065" "30" "1324" "0" "1324" "0" "c.1324T>C" "r.(?)" "p.(Phe442Leu)" "" "0000515025" "00020065" "10" "1274" "0" "1274" "0" "c.1274=" "r.(=)" "p.(Ser425=)" "" "0000515026" "00020065" "30" "584" "-10" "584" "-10" "c.584-10C>G" "r.(=)" "p.(=)" "" "0000515027" "00020065" "30" "584" "-10" "584" "-10" "c.584-10C>G" "r.(=)" "p.(=)" "" "0000515028" "00020065" "30" "519" "0" "519" "0" "c.519G>A" "r.(?)" "p.(Ser173=)" "" "0000515029" "00020065" "10" "334" "0" "334" "0" "c.334=" "r.(=)" "p.(Arg112=)" "" "0000515030" "00020065" "30" "-1815" "0" "-1815" "0" "c.-1815T>A" "r.(?)" "p.(=)" "" "0000607808" "00020065" "30" "2006" "0" "2006" "0" "c.2006G>A" "r.(?)" "p.(Arg669His)" "" "0000607809" "00020065" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Cys488=)" "" "0000607810" "00020065" "10" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Ala206Val)" "" "0000650486" "00020065" "30" "1447" "0" "1447" "0" "c.1447G>A" "r.(?)" "p.(Gly483Arg)" "" "0000650487" "00020065" "30" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Gly126Ser)" "" "0000669612" "00020065" "30" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Gly126Ser)" "" "0000676542" "00020065" "30" "583" "15" "583" "15" "c.583+15C>T" "r.(=)" "p.(=)" "" "0000676543" "00020065" "30" "249" "0" "249" "0" "c.249A>G" "r.(?)" "p.(Thr83=)" "" "0000688685" "00020065" "30" "1706" "20" "1706" "20" "c.1706+20G>A" "r.(=)" "p.(=)" "" "0000688686" "00020065" "30" "978" "0" "978" "0" "c.978T>G" "r.(?)" "p.(Thr326=)" "" "0000718607" "00020065" "30" "1802" "0" "1802" "0" "c.1802C>T" "r.(?)" "p.(Pro601Leu)" "" "0000800467" "00020065" "30" "2118" "0" "2118" "0" "c.2118C>T" "r.(?)" "p.(Asp706=)" "" "0000800468" "00020065" "30" "1757" "0" "1757" "0" "c.1757A>G" "r.(?)" "p.(Gln586Arg)" "" "0000800469" "00020065" "30" "1443" "0" "1443" "0" "c.1443A>G" "r.(?)" "p.(Lys481=)" "" "0000800470" "00020065" "50" "1225" "0" "1225" "0" "c.1225A>T" "r.(?)" "p.(Met409Leu)" "" "0000800471" "00020065" "30" "1030" "0" "1030" "0" "c.1030C>G" "r.(?)" "p.(Arg344Gly)" "" "0000800472" "00020065" "50" "-1845" "0" "-1845" "0" "c.-1845G>A" "r.(?)" "p.(=)" "" "0000849786" "00020065" "30" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Thr330Met)" "" "0000849787" "00020065" "30" "542" "0" "542" "0" "c.542T>G" "r.(?)" "p.(Leu181Arg)" "" "0000885008" "00020065" "30" "459" "0" "459" "0" "c.459G>A" "r.(?)" "p.(Ala153=)" "" "0000911633" "00020065" "30" "2006" "0" "2006" "0" "c.2006G>A" "r.(?)" "p.(Arg669His)" "" "0000920232" "00020065" "90" "686" "0" "686" "0" "c.686dup" "r.(?)" "p.(Gln231ProfsTer5)" "6" "0000923652" "00020065" "70" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Arg112Gln)" "" "0000928555" "00020065" "30" "1706" "4" "1706" "4" "c.1706+4A>T" "r.spl?" "p.?" "" "0000928556" "00020065" "30" "1647" "0" "1647" "0" "c.1647C>T" "r.(?)" "p.(Cys549=)" "" "0000928557" "00020065" "30" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Ser173Leu)" "" "0000928558" "00020065" "30" "250" "0" "250" "0" "c.250T>C" "r.(?)" "p.(=)" "" "0001078582" "00020065" "30" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Ala511Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000293797" "0000650486" "0000293798" "0000650487" "0000305924" "0000669612" "0000434472" "0000920232" "0000481729" "0001078582"