### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SHOC2) # 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}}" "SHOC2" "soc-2 suppressor of clear homolog (C. elegans)" "10" "q25" "unknown" "NG_028922.1" "UD_134408610418" "" "https://www.LOVD.nl/SHOC2" "" "1" "15454" "8036" "602775" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-05-30 16:06:52" "00006" "2025-10-30 10:50:02" ## 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}}" "00018892" "SHOC2" "transcript variant 1" "001" "NM_007373.3" "" "NP_031399.2" "" "" "" "-349" "3598" "1749" "112679301" "112773425" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00671" "NSLH1" "Noonan-like syndrome with loose anagen hair (NSLH)" "AD" "607721" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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 = 2 "{{geneid}}" "{{diseaseid}}" "SHOC2" "00139" "SHOC2" "00671" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00080913" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00228780" "" "" "" "1" "" "03240" "" "" "M" "no" "Albania" "01y" "0" "" "" "" "17-1777" "00306134" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "68" "00307813" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411252" "00410431" "" "" "" "1" "" "04322" "" "" "F" "no" "China" "" "" "" "" "" "Patient 6" "00419542" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9106" "00440367" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2066.1" "00467761" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat18" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00080913" "00671" "00228780" "00671" "00306134" "00671" "00307813" "00139" "00410431" "00671" "00419542" "00198" "00440367" "00198" "00467761" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00671, 05611 ## Count = 8 "{{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}}" "0000060482" "00671" "00080913" "01758" "Isolated (sporadic)" "" "Noonan-like syndrome with loose anagen hair (OMIM:607721)" "" "" "" "" "" "" "" "" "" "" "" "0000172720" "00671" "00228780" "03240" "Isolated (sporadic)" "01y" "Noonan syndrome like disorder with loose anagen hair" "" "" "Prenatal" "" "" "" "" "" "NSLH" "Prenatal: cystic hygroma and hypertrophic cardiomyopathy" "" "0000231977" "00671" "00306134" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231978" "00671" "00306134" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000302536" "00671" "00410431" "04322" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310823" "00198" "00419542" "02300" "Isolated (sporadic)" "8m" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" "" "0000330277" "00198" "00440367" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Noonan-like syndrome with loose anagen hair (MIM #607721)" "" "" "0000352913" "05611" "00467761" "00006" "Isolated (sporadic)" "6y" "see paper; ..., ventricular septal defect, right-sided aortic arch, vascular ring; acrocephaly, downslanting palpebral fissures, epicanthal folds, telecanthus, deeply set eyes, maxillary hypoplasia, malar hypoplasia, micrognathia, triangular facies, asymmetry, tented lips, high arched palate, small flat teeth; developmental delay; no seizures; father downslanting palpebral fissures" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081025" "00080913" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000229870" "00228780" "1" "03240" "03240" "2019-03-26 09:43:26" "" "" "SEQ-NG-I" "DNA" "Chorionic villus sample" "" "0000307265" "00306134" "1" "03695" "03695" "2020-07-08 21:01:43" "" "" "SEQ-NG" "DNA" "" "" "0000308953" "00307813" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000411694" "00410431" "1" "04322" "04322" "2022-05-26 09:51:22" "" "" "SEQ-NG" "DNA" "" "" "0000420846" "00419542" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441852" "00440367" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469427" "00467761" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000081025" "SHOC2" "0000229870" "SHOC2" "0000307265" "SHOC2" "0000308953" "SHOC2" "0000411694" "SHOC2" ## 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}}" "0000130111" "0" "90" "10" "112724120" "112724120" "subst" "0" "01758" "SHOC2_000001" "g.112724120A>G" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.110964362A>G" "" "pathogenic" "ACMG" "0000246965" "0" "50" "10" "112769133" "112769133" "subst" "0" "02330" "SHOC2_000009" "g.112769133A>C" "" "" "" "SHOC2(NM_007373.4):c.1412A>C (p.K471T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111009375A>C" "" "VUS" "" "0000255263" "0" "30" "10" "112769148" "112769148" "subst" "0" "01943" "SHOC2_000010" "g.112769148A>G" "" "" "" "SHOC2(NM_007373.3):c.1422+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111009390A>G" "" "likely benign" "" "0000295841" "0" "10" "10" "112724573" "112724573" "subst" "0.0129865" "02330" "SHOC2_000003" "g.112724573C>T" "" "" "" "SHOC2(NM_007373.4):c.457C>T (p.L153=, p.(Leu153=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110964815C>T" "" "benign" "" "0000295842" "0" "30" "10" "112724174" "112724174" "subst" "0" "02330" "SHOC2_000002" "g.112724174T>C" "" "" "" "SHOC2(NM_007373.4):c.58T>C (p.S20P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110964416T>C" "" "likely benign" "" "0000302108" "0" "30" "10" "112764358" "112764358" "subst" "0" "02326" "SHOC2_000004" "g.112764358T>A" "" "" "" "SHOC2(NM_007373.3):c.973-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111004600T>A" "" "likely benign" "" "0000337016" "0" "30" "10" "112745535" "112745535" "subst" "0.0113892" "02327" "SHOC2_000006" "g.112745535G>A" "" "" "" "SHOC2(NM_001324337.2):c.841+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110985777G>A" "" "likely benign" "" "0000347759" "0" "70" "10" "112724635" "112724635" "subst" "0" "02327" "SHOC2_000005" "g.112724635G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110964877G>T" "" "likely pathogenic" "" "0000348919" "0" "90" "10" "112724120" "112724120" "subst" "0" "02327" "SHOC2_000001" "g.112724120A>G" "" "" "" "SHOC2(NM_001324337.1):c.4A>G (p.S2G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110964362A>G" "" "pathogenic" "" "0000349081" "0" "10" "10" "112771421" "112771421" "subst" "0.000889463" "02327" "SHOC2_000008" "g.112771421A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111011663A>G" "" "benign" "" "0000350844" "0" "10" "10" "112769464" "112769464" "subst" "0.00114751" "02327" "SHOC2_000007" "g.112769464C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111009706C>T" "" "benign" "" "0000471105" "0" "90" "10" "112745489" "112745490" "del" "0" "03240" "SHOC2_000011" "g.112745489_112745490delinsTT" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.110985731_110985732delinsTT" "" "pathogenic (dominant)" "" "0000539188" "0" "10" "10" "112771361" "112771361" "del" "0" "02330" "SHOC2_000012" "g.112771361del" "" "" "" "SHOC2(NM_007373.4):c.1541-7del, SHOC2(NM_007373.4):c.1541-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111011603del" "" "benign" "" "0000612297" "0" "10" "10" "112771361" "112771361" "del" "0" "02327" "SHOC2_000012" "g.112771361del" "" "" "" "SHOC2(NM_007373.4):c.1541-7del, SHOC2(NM_007373.4):c.1541-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111011603del" "" "benign" "" "0000622336" "0" "30" "10" "112769596" "112769596" "subst" "0.00126781" "02330" "SHOC2_000013" "g.112769596C>T" "" "" "" "SHOC2(NM_001324337.2):c.1540+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111009838C>T" "" "likely benign" "" "0000656425" "0" "10" "10" "112745535" "112745535" "subst" "0.0113892" "02330" "SHOC2_000006" "g.112745535G>A" "" "" "" "SHOC2(NM_001324337.2):c.841+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110985777G>A" "" "benign" "" "0000656426" "0" "10" "10" "112764359" "112764359" "del" "0" "02330" "SHOC2_000015" "g.112764359del" "" "" "" "SHOC2(NM_001324337.2):c.973-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111004601del" "" "benign" "" "0000673857" "0" "90" "10" "112724120" "112724120" "subst" "0" "03695" "SHOC2_000001" "g.112724120A>G" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000683387" "0" "70" "10" "112724120" "112724120" "subst" "0" "00006" "SHOC2_000001" "g.112724120A>G" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110964362A>G" "" "likely pathogenic (dominant)" "" "0000690647" "0" "90" "10" "112724120" "112724120" "subst" "0" "01943" "SHOC2_000001" "g.112724120A>G" "" "" "" "SHOC2(NM_001324337.1):c.4A>G (p.S2G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722687" "0" "30" "10" "112724356" "112724356" "subst" "0" "01943" "SHOC2_000016" "g.112724356G>T" "" "" "" "SHOC2(NM_001324337.1):c.240G>T (p.G80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804302" "0" "10" "10" "112769023" "112769023" "subst" "0.00067163" "02330" "SHOC2_000017" "g.112769023C>T" "" "" "" "SHOC2(NM_001324337.2):c.1302C>T (p.N434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804303" "0" "50" "10" "112769508" "112769508" "subst" "0" "02327" "SHOC2_000018" "g.112769508C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804304" "0" "50" "10" "112771523" "112771523" "subst" "0" "02325" "SHOC2_000019" "g.112771523T>C" "" "" "" "SHOC2(NM_007373.4):c.1696T>C (p.S566P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852413" "0" "30" "10" "112724543" "112724543" "subst" "0" "02327" "SHOC2_000020" "g.112724543G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000868945" "0" "90" "10" "112724120" "112724120" "subst" "0" "04322" "SHOC2_000001" "g.112724120A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000881205" "0" "90" "10" "112724120" "112724120" "subst" "0" "02300" "SHOC2_000001" "g.112724120A>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS2, PM2, PP3, PP5" "De novo" "" "rs267607048" "0" "" "" "g.110964362A>G" "" "pathogenic (dominant)" "ACMG" "0000889020" "0" "50" "10" "112724415" "112724415" "subst" "0" "02327" "SHOC2_000021" "g.112724415A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889021" "0" "70" "10" "112724477" "112724477" "subst" "0" "02327" "SHOC2_000022" "g.112724477G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925119" "0" "50" "10" "112724124" "112724124" "subst" "0" "02325" "SHOC2_000023" "g.112724124G>C" "" "" "" "SHOC2(NM_007373.4):c.8G>C (p.S3T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000939794" "0" "90" "10" "112724120" "112724120" "subst" "0" "00006" "SHOC2_000001" "g.112724120A>G" "" "{PMID:Nambot 2018:29095811}" "" "NM_001269039.1:c.4A>G" "" "De novo" "" "" "0" "" "" "g.110964362A>G" "" "pathogenic (dominant)" "" "0000978896" "0" "30" "10" "112771361" "112771361" "del" "0" "01804" "SHOC2_000012" "g.112771361del" "" "" "" "SHOC2(NM_007373.4):c.1541-7del, SHOC2(NM_007373.4):c.1541-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978897" "0" "30" "10" "112771361" "112771361" "dup" "0" "01804" "SHOC2_000024" "g.112771361dup" "" "" "" "SHOC2(NM_007373.4):c.1541-7dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978898" "0" "30" "10" "112771407" "112771407" "subst" "0.000125914" "01804" "SHOC2_000025" "g.112771407A>G" "" "" "" "SHOC2(NM_007373.4):c.1580A>G (p.(Asn527Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998115" "0" "30" "10" "112724262" "112724262" "subst" "1.22292E-5" "02327" "SHOC2_000026" "g.112724262A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998116" "0" "50" "10" "112771368" "112771368" "subst" "0" "01804" "SHOC2_000027" "g.112771368G>T" "" "" "" "SHOC2(NM_007373.3):c.1541G>T (p.(Gly514Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025714" "0" "50" "10" "112724445" "112724445" "subst" "0" "02325" "SHOC2_000028" "g.112724445G>A" "" "" "" "SHOC2(NM_007373.4):c.329G>A (p.R110K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037723" "0" "10" "10" "112724573" "112724573" "subst" "0.0129865" "01804" "SHOC2_000003" "g.112724573C>T" "" "" "" "SHOC2(NM_007373.4):c.457C>T (p.L153=, p.(Leu153=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037724" "0" "50" "10" "112724817" "112724817" "subst" "8.15122E-6" "01804" "SHOC2_000029" "g.112724817T>C" "" "" "" "SHOC2(NM_007373.4):c.701T>C (p.(Ile234Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037725" "0" "50" "10" "112745499" "112745499" "subst" "0" "02327" "SHOC2_000030" "g.112745499C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049793" "21" "70" "10" "112724242" "112724242" "subst" "0" "00006" "SHOC2_000031" "g.112724242A>T" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "variant in mother and twin brother" "Germline" "" "" "0" "" "" "g.110964484A>T" "" "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 SHOC2 ## 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}}" "0000130111" "00018892" "90" "4" "0" "4" "0" "c.4A>G" "r.(?)" "p.(Ser2Gly)" "" "0000246965" "00018892" "50" "1412" "0" "1412" "0" "c.1412A>C" "r.(?)" "p.(Lys471Thr)" "" "0000255263" "00018892" "30" "1422" "5" "1422" "5" "c.1422+5A>G" "r.spl?" "p.?" "" "0000295841" "00018892" "10" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Leu153=)" "" "0000295842" "00018892" "30" "58" "0" "58" "0" "c.58T>C" "r.(?)" "p.(Ser20Pro)" "" "0000302108" "00018892" "30" "973" "-6" "973" "-6" "c.973-6T>A" "r.(=)" "p.(=)" "" "0000337016" "00018892" "30" "841" "12" "841" "12" "c.841+12G>A" "r.(=)" "p.(=)" "" "0000347759" "00018892" "70" "519" "0" "519" "0" "c.519G>T" "r.(?)" "p.(Met173Ile)" "" "0000348919" "00018892" "90" "4" "0" "4" "0" "c.4A>G" "r.(?)" "p.(Ser2Gly)" "" "0000349081" "00018892" "10" "1594" "0" "1594" "0" "c.1594A>G" "r.(?)" "p.(Ser532Gly)" "" "0000350844" "00018892" "10" "1423" "-7" "1423" "-7" "c.1423-7C>T" "r.(=)" "p.(=)" "" "0000471105" "00018892" "90" "807" "0" "808" "0" "c.807_808delinsTT" "r.(?)" "p.(Gln269_His270delinsHisTyr)" "" "0000539188" "00018892" "10" "1541" "-7" "1541" "-7" "c.1541-7del" "r.(=)" "p.(=)" "" "0000612297" "00018892" "10" "1541" "-7" "1541" "-7" "c.1541-7del" "r.(=)" "p.(=)" "" "0000622336" "00018892" "30" "1540" "8" "1540" "8" "c.1540+8C>T" "r.(=)" "p.(=)" "" "0000656425" "00018892" "10" "841" "12" "841" "12" "c.841+12G>A" "r.(=)" "p.(=)" "" "0000656426" "00018892" "10" "973" "-5" "973" "-5" "c.973-5del" "r.spl?" "p.?" "" "0000673857" "00018892" "90" "4" "0" "4" "0" "c.4A>G" "r.(?)" "p.(Ser2Gly)" "" "0000683387" "00018892" "70" "4" "0" "4" "0" "c.4A>G" "r.(?)" "p.(Ser2Gly)" "" "0000690647" "00018892" "90" "4" "0" "4" "0" "c.4A>G" "r.(?)" "p.(Ser2Gly)" "" "0000722687" "00018892" "30" "240" "0" "240" "0" "c.240G>T" "r.(?)" "p.(Gly80=)" "" "0000804302" "00018892" "10" "1302" "0" "1302" "0" "c.1302C>T" "r.(?)" "p.(Asn434=)" "" "0000804303" "00018892" "50" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Pro487Leu)" "" "0000804304" "00018892" "50" "1696" "0" "1696" "0" "c.1696T>C" "r.(?)" "p.(Ser566Pro)" "" "0000852413" "00018892" "30" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Gly143Arg)" "" "0000868945" "00018892" "90" "4" "0" "4" "0" "c.4A>G" "r.(?)" "p.(Ser2Gly)" "" "0000881205" "00018892" "90" "4" "0" "4" "0" "c.4A>G" "r.(?)" "p.(Ser2Gly)" "" "0000889020" "00018892" "50" "299" "0" "299" "0" "c.299A>G" "r.(?)" "p.(Glu100Gly)" "" "0000889021" "00018892" "70" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Glu121Lys)" "" "0000925119" "00018892" "50" "8" "0" "8" "0" "c.8G>C" "r.(?)" "p.(Ser3Thr)" "" "0000939794" "00018892" "90" "4" "0" "4" "0" "c.4A>G" "r.(?)" "p.(Ser2Gly)" "" "0000978896" "00018892" "30" "1541" "-7" "1541" "-7" "c.1541-7del" "r.(=)" "p.(=)" "" "0000978897" "00018892" "30" "1541" "-7" "1541" "-7" "c.1541-7dup" "r.(=)" "p.(=)" "" "0000978898" "00018892" "30" "1580" "0" "1580" "0" "c.1580A>G" "r.(?)" "p.(Asn527Ser)" "" "0000998115" "00018892" "30" "146" "0" "146" "0" "c.146A>T" "r.(?)" "p.(Asp49Val)" "" "0000998116" "00018892" "50" "1541" "0" "1541" "0" "c.1541G>T" "r.(?)" "p.(Gly514Val)" "" "0001025714" "00018892" "50" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Arg110Lys)" "" "0001037723" "00018892" "10" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Leu153=)" "" "0001037724" "00018892" "50" "701" "0" "701" "0" "c.701T>C" "r.(?)" "p.(Ile234Thr)" "" "0001037725" "00018892" "50" "817" "0" "817" "0" "c.817C>G" "r.(?)" "p.(Leu273Val)" "" "0001049793" "00018892" "70" "126" "0" "126" "0" "c.126A>T" "r.(?)" "p.(Glu42Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000081025" "0000130111" "0000229870" "0000471105" "0000307265" "0000673857" "0000308953" "0000683387" "0000411694" "0000868945" "0000420846" "0000881205" "0000441852" "0000939794" "0000469427" "0001049793"