### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SOST) # 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}}" "SOST" "sclerostin" "17" "q12-q21" "unknown" "NG_008078.2" "UD_132085421844" "" "https://www.LOVD.nl/SOST" "" "1" "13771" "50964" "605740" "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/SOST_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-11-01 00:00:00" "00006" "2017-07-17 15:17:47" "00000" "2025-02-07 18:57:27" ## 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}}" "00020030" "SOST" "sclerostin" "001" "NM_025237.2" "" "NP_079513.1" "" "" "" "-47" "2253" "642" "41836156" "41831099" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01270" "CDD" "dysplasia, craniodiaphyseal, autosomal dominant (CDD" "AD" "122860" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01857" "VBCH" "disease, van Buchem (VBCH, hyperostosis corticalis generalisata)" "AR" "239100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02067" "SOST1" "sclerosteosis, type 1 (SOST-1)" "AR" "269500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05307" "SOST" "sclerosteosis (SOST)" "" "" "" "" "" "00006" "2017-07-17 08:40:58" "00006" "2017-07-17 08:41:46" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SOST" "01270" "SOST" "01857" "SOST" "02067" "SOST" "05307" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00107717" "" "" "" "29" "" "00006" "{PMID:Beighton 1976:1259284}, {PMID:Beighton 1979:223247}" "22 South African families, 29 affecteds/33 unaffected carriers" "" "" "South Africa" "" "0" "" "" "Afrikaner" "" "00107718" "" "" "" "33" "" "00006" "{PMID:Beighton 1976:1259284}, {PMID:Beighton 1979:223247}" "22 South African families, 33 unaffected heterozygous carriers" "" "" "South Africa" "" "0" "" "" "Afrikaner" "" "00107719" "" "" "" "1" "" "00006" "{PMID:Tacconi 1998:9712543}" "" "" "" "Senegal" "" "0" "" "" "" "" "00107720" "" "" "" "1" "" "00006" "{PMID:Tacconi 1998:9712543}" "" "" "" "Senegal" "" "0" "" "" "" "" "00107721" "" "" "" "1" "" "00006" "{PMID:Tacconi 1998:9712543}" "" "" "" "Senegal" "" "0" "" "" "" "" "00107722" "" "" "" "1" "" "00006" "{PMID:Balemans 1999:10330353}" "" "" "yes" "Brazil" "" "0" "" "" "" "" "00107723" "" "" "" "1" "" "00006" "{PMID:Balemans 1999:10330353}" "" "" "yes" "United States" "" "0" "" "" "" "" "00107724" "" "" "" "1" "" "00006" "{PMID:Balemans 2001:11181578}" "" "" "" "Senegal" "" "0" "" "" "" "" "00107725" "" "" "" "13" "" "00006" "{PMID:Van Hul 1998:9463328}" "extended 10-generation family, 13 affecteds (6F, 7M)" "F;M" "" "Netherlands" "" "0" "" "" "" "" "00107726" "" "" "" "1" "" "00006" "{PMID:Balemans 2002:11836356}" "father maternal grandmother and father paternal grandmother were brothers" "M" "yes" "Netherlands" "" "0" "" "" "" "11836356-Pat1" "00107727" "" "" "" "2" "" "00006" "{PMID:Balemans 2002:11836356}" "2-generation family, affected sister/brother, Pat2" "F" "yes" "Netherlands" "" "0" "" "" "" "11836356-Pat2" "00107728" "" "" "00107727" "1" "" "00006" "{PMID:Balemans 2002:11836356}" "Pat3" "M" "yes" "Netherlands" "" "0" "" "" "" "11836356-Pat3" "00107729" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00107730" "" "" "" "1" "" "00006" "{PMID:Balemans 2005:15869924}" "brother of 15869924-P2" "M" "" "Germany" "" "0" "" "" "" "" "00107731" "" "" "" "1" "" "00006" "{PMID:Balemans 2005:15869924}" "sister of 15869924-P1" "F" "" "Germany" "" "0" "" "" "" "" "00107732" "" "" "" "15" "" "00006" "{PMID:Van Hul 1998:9463328}" "extended Dutch family (common acestor 9 generations ago)" "" "" "Netherlands" "" "0" "" "" "" "" "00107733" "" "" "" "1" "" "00006" "{PMID:Kim 2008:19072561}" "said unrelated to ther cases" "" "yes" "Brazil" "" "0" "" "" "" "" "00107734" "" "" "" "1" "" "00006" "{PMID:Kim 2008:19072561}" "said unrelated to ther cases" "" "" "Brazil" "" "0" "" "" "" "" "00291740" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331568" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "16DG0974" "00387929" "" "" "" "2" "" "04178" "{PMID:Fayez 2015:25984533}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "(Egypt)" "" "0" "" "" "Africa" "FamPatIV5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00107717" "05307" "00107718" "00198" "00107719" "05307" "00107720" "05307" "00107721" "00198" "00107722" "05307" "00107723" "05307" "00107724" "05307" "00107725" "01857" "00107726" "01857" "00107727" "01857" "00107728" "01857" "00107729" "00198" "00107730" "05307" "00107731" "05307" "00107732" "01857" "00107733" "05307" "00107734" "05307" "00291740" "00198" "00331568" "05517" "00387929" "02067" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01270, 01857, 02067, 05307, 05517 ## Count = 19 "{{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}}" "0000085482" "05307" "00107717" "00006" "Familial" "" "distortion facies/mandibular protrusion, entrapment cranial nerves causing deafness/facial palsy; radiography-skeletal hyperostosis/sclerosis (esp. calvarium/base of skull)" "" "" "" "" "" "" "" "" "" "" "" "0000085483" "00198" "00107718" "00006" "Familial" "" "distortion facies/mandibular protrusion, entrapment cranial nerves causing deafness/facial palsy; radiography-skeletal hyperostosis/sclerosis (esp. calvarium/base of skull)" "" "" "" "" "" "" "" "" "" "" "" "0000085484" "05307" "00107719" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085485" "05307" "00107720" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085486" "00198" "00107721" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085487" "05307" "00107722" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085488" "05307" "00107723" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085489" "05307" "00107724" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085490" "01857" "00107725" "00006" "Familial" "" "van Buchem disease (hyperostosis corticalis generalisata)" "" "" "" "" "" "" "" "" "" "" "" "0000085491" "01857" "00107726" "00006" "Isolated (sporadic)" "68y" "van Buchem disease (hyperostosis corticalis generalisata), see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000085492" "01857" "00107727" "00006" "Isolated (sporadic)" "" "van Buchem disease (hyperostosis corticalis generalisata)" "" "" "" "" "" "" "" "" "" "" "" "0000085493" "01857" "00107728" "00006" "Isolated (sporadic)" "" "van Buchem disease (hyperostosis corticalis generalisata)" "" "" "" "" "" "" "" "" "" "" "" "0000085494" "05307" "00107730" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085495" "05307" "00107731" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085496" "00198" "00107732" "00006" "Familial" "" "van Buchem disease (hyperostosis corticalis generalisata)" "" "" "" "" "" "" "" "" "" "" "" "0000085497" "05307" "00107733" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085498" "05307" "00107734" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000249760" "05517" "00331568" "00000" "Familial, autosomal recessive" "" "Osteosclerosis, Facial palsy, Frontal bossing, Mandibular prognathia" "" "" "" "" "" "" "" "" "Other sclerosing bone disorders" "skeletal dysplasia" "" "0000281499" "02067" "00387929" "04178" "Familial" "25y" "Visual impairment (HP:0000505), Hearing impairment (HP:0000365), Abnormal facial shape (HP:0001999), Increased arm span (HP:0012771), Macrocephaly (HP:0000256), Delayed speech and language development (HP:0000750), Radial deviation of the hand or of fingers of the hand (HP:0009485), Camptodactyly of 2nd-5th fingers (HP:0001215), Clinodactyly (HP:0030084), Cranial hyperostosis (HP:0004437)," "06y" "25y" "" "" "" "" "" "" "SOST1" "sclerosteosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000108188" "00107717" "0" "00006" "00006" "2009-11-15 15:06:44" "00006" "2011-01-24 23:01:00" "SEQ" "DNA" "" "" "0000108189" "00107718" "0" "00006" "00006" "2009-11-15 15:06:44" "" "" "SEQ" "DNA" "" "" "0000108190" "00107719" "0" "00006" "00006" "2009-11-15 15:06:44" "00006" "2011-01-24 23:01:00" "SEQ" "DNA" "" "" "0000108191" "00107720" "0" "00006" "00006" "2009-11-15 15:06:44" "00006" "2011-01-24 23:01:00" "SEQ" "DNA" "" "" "0000108192" "00107721" "0" "00006" "00006" "2009-11-15 15:06:44" "" "" "SEQ" "DNA" "" "" "0000108193" "00107722" "0" "00006" "00006" "2009-11-15 15:06:44" "00006" "2011-01-24 23:01:00" "SEQ" "DNA" "" "" "0000108194" "00107723" "0" "00006" "00006" "2009-11-15 15:06:44" "00006" "2011-01-24 23:01:00" "SEQ" "DNA" "" "" "0000108195" "00107724" "0" "00006" "00006" "2009-11-15 15:06:44" "00006" "2011-01-24 23:01:00" "SEQ" "DNA" "" "" "0000108196" "00107725" "0" "00006" "00006" "2009-11-15 15:06:44" "00006" "2011-01-24 23:02:17" "Southern;PCR;SEQ" "DNA" "" "" "0000108197" "00107726" "0" "00006" "00006" "2009-11-15 15:06:44" "00006" "2011-01-24 23:02:17" "Southern;PCR;SEQ" "DNA" "" "" "0000108198" "00107727" "0" "00006" "00006" "2009-11-15 15:06:44" "00006" "2011-01-24 23:02:17" "Southern;PCR;SEQ" "DNA" "" "" "0000108199" "00107728" "0" "00006" "00006" "2009-11-15 15:06:44" "00006" "2011-01-24 23:02:17" "Southern;PCR;SEQ" "DNA" "" "" "0000108200" "00107729" "0" "00006" "00006" "2009-11-15 15:06:44" "" "" "SEQ" "DNA" "" "" "0000108201" "00107730" "0" "00006" "00006" "2009-11-15 15:06:44" "00006" "2011-01-24 23:01:00" "SEQ" "DNA" "" "" "0000108202" "00107731" "0" "00006" "00006" "2009-11-15 15:06:44" "00006" "2011-01-24 23:01:00" "SEQ" "DNA" "" "" "0000108203" "00107732" "0" "00006" "00006" "2009-11-15 15:06:44" "00006" "2011-01-24 23:02:17" "Southern;PCR;SEQ" "DNA" "" "" "0000108204" "00107733" "0" "00006" "00006" "2009-11-15 15:06:44" "00006" "2011-01-24 23:01:00" "SEQ" "DNA" "" "" "0000108205" "00107734" "0" "00006" "00006" "2009-11-15 15:06:44" "00006" "2011-01-24 23:01:00" "SEQ" "DNA" "" "" "0000292908" "00291740" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332787" "00331568" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000389164" "00387929" "1" "04178" "04178" "2021-10-31 15:54:00" "00006" "2021-11-01 15:40:23" "SEQ" "DNA" "White blood cells" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000108188" "SOST" "0000108189" "SOST" "0000108190" "SOST" "0000108191" "SOST" "0000108192" "SOST" "0000108193" "SOST" "0000108194" "SOST" "0000108195" "SOST" "0000108196" "SOST" "0000108197" "SOST" "0000108198" "SOST" "0000108199" "SOST" "0000108200" "SOST" "0000108201" "SOST" "0000108202" "SOST" "0000108203" "SOST" "0000108204" "SOST" "0000108205" "SOST" "0000332787" "SOST" "0000389164" "SOST" ## 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 = 45 "{{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}}" "0000174068" "3" "90" "17" "41836040" "41836040" "subst" "0" "00006" "SOST_000001" "g.41836040G>A" "" "{PMID:Brunkow 2001:11179006}, {OMIM605740:00001}" "" "" "linkage; not in 636 control chromosomes" "Germline" "" "" "0" "" "" "g.43758672G>A" "" "pathogenic" "" "0000174069" "1" "10" "17" "41836040" "41836040" "subst" "0" "00006" "SOST_000001" "g.41836040G>A" "" "{PMID:Brunkow 2001:11179006}, {OMIM605740:00001}" "" "" "linkage; not in 636 control chromosomes" "Germline" "" "" "0" "" "" "g.43758672G>A" "" "benign" "" "0000174070" "11" "90" "17" "41835887" "41835887" "subst" "0" "00006" "SOST_000002" "g.41835887T>A" "" "{PMID:Brunkow 2001:11179006}, {OMIM605740:00002}" "" "" "linkage; not in 720 control chromosomes" "Germline" "" "" "0" "" "" "g.43758519T>A" "" "pathogenic" "" "0000174071" "11" "10" "17" "41833198" "41833198" "subst" "0" "00006" "SOST_000003" "g.41833198T>G" "" "{PMID:Brunkow 2001:11179006}" "" "" "linkage; not in 720 control chromosomes" "Germline" "" "" "0" "" "" "g.43755830T>G" "" "benign" "" "0000174072" "21" "90" "17" "41835887" "41835887" "subst" "0" "00006" "SOST_000002" "g.41835887T>A" "" "{PMID:Brunkow 2001:11179006}, {OMIM605740:00002}" "" "" "linkage; not in 720 control chromosomes" "Germline" "" "" "0" "" "" "g.43758519T>A" "" "pathogenic" "" "0000174073" "21" "10" "17" "41833198" "41833198" "subst" "0" "00006" "SOST_000003" "g.41833198T>G" "" "{PMID:Brunkow 2001:11179006}" "" "" "linkage; not in 720 control chromosomes" "Germline" "" "" "0" "" "" "g.43755830T>G" "" "benign" "" "0000174074" "1" "90" "17" "41835887" "41835887" "subst" "0" "00006" "SOST_000002" "g.41835887T>A" "" "{PMID:Brunkow 2001:11179006}, {OMIM605740:00002}" "" "" "linkage; not in 720 control chromosomes" "Germline" "" "" "0" "" "" "g.43758519T>A" "" "pathogenic" "" "0000174075" "1" "10" "17" "41833198" "41833198" "subst" "0" "00006" "SOST_000003" "g.41833198T>G" "" "{PMID:Brunkow 2001:11179006}" "" "" "linkage; not in 720 control chromosomes" "Germline" "" "" "0" "" "" "g.43755830T>G" "" "benign" "" "0000174076" "11" "90" "17" "41832980" "41832980" "subst" "0" "00006" "SOST_000004" "g.41832980C>T" "" "{PMID:Balemans 2001:11181578}" "" "" "linkage" "Germline" "" "" "0" "" "" "g.43755612C>T" "" "pathogenic" "" "0000174077" "21" "90" "17" "41832980" "41832980" "subst" "0" "00006" "SOST_000004" "g.41832980C>T" "" "{PMID:Balemans 2001:11181578}" "" "" "linkage" "Germline" "" "" "0" "" "" "g.43755612C>T" "" "pathogenic" "" "0000174078" "11" "90" "17" "41832976" "41832976" "subst" "0" "00006" "SOST_000005" "g.41832976G>A" "" "{PMID:Balemans 2001:11181578}" "" "" "linkage" "Germline" "" "" "0" "" "" "g.43755608G>A" "" "pathogenic" "" "0000174079" "21" "90" "17" "41832976" "41832976" "subst" "0" "00006" "SOST_000005" "g.41832976G>A" "" "{PMID:Balemans 2001:11181578}" "" "" "linkage" "Germline" "" "" "0" "" "" "g.43755608G>A" "" "pathogenic" "" "0000174080" "11" "90" "17" "41835887" "41835887" "subst" "0" "00006" "SOST_000002" "g.41835887T>A" "" "{PMID:Balemans 2001:11181578}" "" "" "linkage" "Germline" "" "" "0" "" "" "g.43758519T>A" "" "pathogenic" "" "0000174081" "21" "90" "17" "41835887" "41835887" "subst" "0" "00006" "SOST_000002" "g.41835887T>A" "" "{PMID:Balemans 2001:11181578}" "" "" "linkage" "Germline" "" "" "0" "" "" "g.43758519T>A" "" "pathogenic" "" "0000174083" "3" "90" "17" "41744731" "41796448" "del" "0" "00006" "SOST_000007" "g.41744731_41796448del" "" "{PMID:Balemans 2002:11836356}" "" "" "51.7 kb detected using probes MTO-156 and MTO-206" "Germline" "yes" "" "0" "" "" "g.43667363_43719080del" "" "pathogenic" "" "0000174085" "3" "90" "17" "41744731" "41796448" "" "0" "00006" "SOST_000007" "g.41744731_41796448del" "" "{PMID:Balemans 2002:11836356}" "" "" "51.7Kb deletion; shared haplotype" "Germline" "" "" "0" "" "" "g.43667363_43719080del" "" "pathogenic" "" "0000174087" "3" "90" "17" "41744731" "41796448" "" "0" "00006" "SOST_000007" "g.41744731_41796448del" "" "{PMID:Balemans 2002:11836356}" "" "" "51.7Kb deletion; shared haplotype" "Germline" "yes" "" "0" "" "" "g.43667363_43719080del" "" "pathogenic" "" "0000174089" "3" "90" "17" "41744731" "41796448" "" "0" "00006" "SOST_000007" "g.41744731_41796448del" "" "{PMID:Balemans 2002:11836356}" "" "" "51.7Kb deletion; shared haplotype" "Germline" "yes" "" "0" "" "" "g.43667363_43719080del" "" "pathogenic" "" "0000174090" "1" "90" "17" "0" "0" "" "0" "00006" "SOST_000000" "g.?" "" "{PMID:Loots 2005:15965026}" "" "" "BAC recombination and transgenesis mice, no expression deletion allele" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174091" "10" "90" "17" "41835889" "41835889" "subst" "0" "00006" "SOST_000008" "g.41835889C>A" "" "{PMID:Balemans 2005:15869924}" "" "IVS1+1G>C" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.43758521C>A" "" "pathogenic" "" "0000174092" "20" "90" "17" "41835889" "41835889" "subst" "0" "00006" "SOST_000008" "g.41835889C>A" "" "{PMID:Balemans 2005:15869924}" "" "IVS1+1G>C" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.43758521C>A" "" "pathogenic" "" "0000174093" "10" "90" "17" "41835889" "41835889" "subst" "0" "00006" "SOST_000008" "g.41835889C>A" "" "{PMID:Balemans 2005:15869924}" "" "IVS1+1G>C" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.43758521C>A" "" "pathogenic" "" "0000174094" "20" "90" "17" "41835889" "41835889" "subst" "0" "00006" "SOST_000008" "g.41835889C>A" "" "{PMID:Balemans 2005:15869924}" "" "IVS1+1G>C" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.43758521C>A" "" "pathogenic" "" "0000174095" "11" "90" "17" "41744731" "41796448" "" "0" "00006" "SOST_000007" "g.41744731_41796448del" "" "{PMID:Staehling-Hampton 2002:12116252}" "" "" "51.7Kb deletion detected using D17S1789" "Germline" "" "" "0" "" "" "g.43667363_43719080del" "" "pathogenic" "" "0000174096" "21" "90" "17" "41744731" "41796448" "" "0" "00006" "SOST_000007" "g.41744731_41796448del" "" "{PMID:Staehling-Hampton 2002:12116252}" "" "" "51.7Kb deletion detected using D17S1789" "Germline" "" "" "0" "" "" "g.43667363_43719080del" "" "pathogenic" "" "0000174097" "11" "90" "17" "41832980" "41832980" "subst" "0" "00006" "SOST_000004" "g.41832980C>T" "" "{PMID:Kim 2008:19072561}" "" "" "linkage" "Germline" "" "" "0" "" "" "g.43755612C>T" "" "pathogenic" "" "0000174098" "21" "90" "17" "41832980" "41832980" "subst" "0" "00006" "SOST_000004" "g.41832980C>T" "" "{PMID:Kim 2008:19072561}" "" "" "linkage" "Germline" "" "" "0" "" "" "g.43755612C>T" "" "pathogenic" "" "0000174099" "11" "90" "17" "41832980" "41832980" "subst" "0" "00006" "SOST_000004" "g.41832980C>T" "" "{PMID:Kim 2008:19072561}" "" "" "linkage" "Germline" "" "" "0" "" "" "g.43755612C>T" "" "pathogenic" "" "0000174100" "21" "90" "17" "41832980" "41832980" "subst" "0" "00006" "SOST_000004" "g.41832980C>T" "" "{PMID:Kim 2008:19072561}" "" "" "linkage" "Germline" "" "" "0" "" "" "g.43755612C>T" "" "pathogenic" "" "0000174101" "0" "10" "17" "41833198" "41833198" "subst" "0" "00006" "SOST_000003" "g.41833198T>G" "" "{PMID:Brunkow 2001:11179006}" "" "A+2692G" "CHO cell expression cloning splice vector, no effect" "In vitro (cloned)" "" "" "0" "" "" "g.43755830T>G" "" "NA" "" "0000174102" "0" "90" "17" "41835887" "41835887" "subst" "0" "00006" "SOST_000002" "g.41835887T>A" "" "{PMID:Brunkow 2001:11179006}, {OMIM605740:00002}" "" "" "CHO cell expression cloning splice vector, effect on splicing" "In vitro (cloned)" "" "" "0" "" "" "g.43758519T>A" "" "NA" "" "0000174103" "0" "90" "17" "41835890" "41835890" "subst" "0" "00006" "SOST_000008" "g.41835890C>A" "" "{PMID:Brunkow 2001:11179006}" "" "220G>T" "CHO cell expression cloning splice vector, effect on splicing\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000561873" "0" "30" "17" "41836082" "41836082" "subst" "0.0109992" "01804" "SOST_000009" "g.41836082C>T" "" "" "" "SOST(NM_025237.2):c.28G>A (p.(Val10Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43758714C>T" "" "likely benign" "" "0000623691" "0" "30" "17" "41835951" "41835951" "subst" "0" "01943" "SOST_000010" "g.41835951G>A" "" "" "" "SOST(NM_025237.2):c.159C>T (p.N53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43758583G>A" "" "likely benign" "" "0000649597" "1" "50" "17" "41836082" "41836082" "subst" "0.0109992" "03575" "SOST_000009" "g.41836082C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs17882143}" "Germline" "" "rs17882143" "0" "" "" "g.43758714C>T" "" "VUS" "" "0000658148" "0" "70" "17" "41835926" "41835926" "subst" "2.44306E-5" "01804" "SOST_000011" "g.41835926C>T" "" "" "" "SOST(NM_025237.2):c.184G>A (p.(Gly62Arg)), SOST(NM_025237.3):c.184G>A (p.G62R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43758558C>T" "" "likely pathogenic" "" "0000730069" "3" "90" "17" "41836023" "41836023" "dup" "0" "00000" "SOST_000012" "g.41836023dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_025237.2:c.87dupC:p.(Lys30Glnfs*3)" "" "Germline" "" "" "0" "" "" "g.43758655dup" "" "pathogenic (recessive)" "" "0000818138" "3" "90" "17" "41836023" "41836023" "dup" "0" "04178" "SOST_000012" "g.41836023dup" "" "{PMID:Fayez 2015:25984533}" "" "87_88insC" "" "Germline" "" "rs377648601" "0" "" "" "g.43758655dup" "" "pathogenic (recessive)" "" "0000865305" "0" "50" "17" "41836009" "41836009" "subst" "8.1217E-6" "01804" "SOST_000013" "g.41836009G>A" "" "" "" "SOST(NM_025237.2):c.101C>T (p.(Thr34Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893949" "0" "30" "17" "41835962" "41835962" "subst" "1.21871E-5" "01804" "SOST_000014" "g.41835962G>C" "" "" "" "SOST(NM_025237.2):c.148C>G (p.(Leu50Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914860" "0" "50" "17" "41833057" "41833057" "subst" "1.89629E-5" "02325" "SOST_000015" "g.41833057G>C" "" "" "" "SOST(NM_025237.3):c.295C>G (p.P99A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926510" "0" "50" "17" "41835947" "41835947" "subst" "0" "01804" "SOST_000016" "g.41835947T>A" "" "" "" "SOST(NM_025237.2):c.163A>T (p.(Thr55Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950928" "0" "50" "17" "41832984" "41832984" "subst" "0" "02325" "SOST_000017" "g.41832984T>A" "" "" "" "SOST(NM_025237.3):c.368A>T (p.K123M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015558" "0" "50" "17" "41835926" "41835926" "subst" "2.44306E-5" "02325" "SOST_000011" "g.41835926C>T" "" "" "" "SOST(NM_025237.2):c.184G>A (p.(Gly62Arg)), SOST(NM_025237.3):c.184G>A (p.G62R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026941" "0" "50" "17" "41832934" "41832934" "subst" "0" "02325" "SOST_000018" "g.41832934G>C" "" "" "" "SOST(NM_025237.3):c.418C>G (p.R140G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SOST ## Count = 45 "{{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}}" "0000174068" "00020030" "90" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.Gln24*" "1" "0000174069" "00020030" "10" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.Gln24*" "1" "0000174070" "00020030" "90" "220" "3" "220" "3" "c.220+3A>T" "r.spl" "p.(Asp74GlyfsX)" "1i" "0000174071" "00020030" "10" "221" "-67" "221" "-67" "c.221-67A>C" "r.(?)" "p.(=)" "1i" "0000174072" "00020030" "90" "220" "3" "220" "3" "c.220+3A>T" "r.spl" "p.(Asp74Glyfs*)" "1i" "0000174073" "00020030" "10" "221" "-67" "221" "-67" "c.221-67A>C" "r.(?)" "p.(=)" "1i" "0000174074" "00020030" "90" "220" "3" "220" "3" "c.220+3A>T" "r.spl" "p.(Asp74Glyfs*)" "1i" "0000174075" "00020030" "10" "221" "-67" "221" "-67" "c.221-67A>C" "r.(?)" "p.(=)" "1i" "0000174076" "00020030" "90" "372" "0" "372" "0" "c.372G>A" "r.(?)" "p.(Trp124*)" "2" "0000174077" "00020030" "90" "372" "0" "372" "0" "c.372G>A" "r.(?)" "p.(Trp124*)" "2" "0000174078" "00020030" "90" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126*)" "2" "0000174079" "00020030" "90" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126*)" "2" "0000174080" "00020030" "90" "220" "3" "220" "3" "c.220+3A>T" "r.(spl?)" "p.(del?)" "1i" "0000174081" "00020030" "90" "220" "3" "220" "3" "c.220+3A>T" "r.(spl?)" "p.(del?)" "1i" "0000174083" "00020030" "90" "36904" "0" "88621" "0" "c.*36262_*87979del" "r.(0)" "p.(0)" "2_" "0000174085" "00020030" "90" "36904" "0" "88621" "0" "c.*36262_*87979del" "r.(0)" "p.(0)" "2_" "0000174087" "00020030" "90" "36904" "0" "88621" "0" "c.*36262_*87979del" "r.(0)" "p.(0)" "2_" "0000174089" "00020030" "90" "36904" "0" "88621" "0" "c.*36262_*87979del" "r.(0)" "p.(0)" "2_" "0000174090" "00020030" "90" "0" "0" "0" "0" "c.(0)" "r.0" "p.0" "2" "0000174091" "00020030" "90" "220" "1" "220" "1" "c.220+1G>T" "r.spl?" "p.del?" "1i" "0000174092" "00020030" "90" "220" "1" "220" "1" "c.220+1G>T" "r.spl?" "p.del?" "1i" "0000174093" "00020030" "90" "220" "1" "220" "1" "c.220+1G>T" "r.spl?" "p.del?" "1i" "0000174094" "00020030" "90" "220" "1" "220" "1" "c.220+1G>T" "r.spl?" "p.del?" "1i" "0000174095" "00020030" "90" "36904" "0" "88621" "0" "c.*36262_*87979del" "r.(0)" "p.(0)" "2_" "0000174096" "00020030" "90" "36904" "0" "88621" "0" "c.*36262_*87979del" "r.(0)" "p.(0)" "2_" "0000174097" "00020030" "90" "372" "0" "372" "0" "c.372G>A" "r.(?)" "p.(Trp124*)" "2" "0000174098" "00020030" "90" "372" "0" "372" "0" "c.372G>A" "r.(?)" "p.(Trp124*)" "2" "0000174099" "00020030" "90" "372" "0" "372" "0" "c.372G>A" "r.(?)" "p.(Trp124*)" "2" "0000174100" "00020030" "90" "372" "0" "372" "0" "c.372G>A" "r.(?)" "p.(Trp124*)" "2" "0000174101" "00020030" "10" "221" "-67" "221" "-67" "c.221-67A>C" "r.=" "p.=" "1i" "0000174102" "00020030" "90" "220" "3" "220" "3" "c.220+3A>T" "r.220_221insGTTins220+4_220+214" "p.Asp74fs*" "1i" "0000174103" "00020030" "90" "220" "1" "220" "1" "c.220+1G>T" "r.220_221insTins220+2_220+214" "p.Asp74fs*" "1i" "0000561873" "00020030" "30" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Val10Ile)" "" "0000623691" "00020030" "30" "159" "0" "159" "0" "c.159C>T" "r.(?)" "p.(Asn53=)" "" "0000649597" "00020030" "50" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Val10Ile)" "" "0000658148" "00020030" "70" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Gly62Arg)" "" "0000730069" "00020030" "90" "87" "0" "87" "0" "c.87dup" "r.(?)" "p.(Lys30Glnfs*3)" "" "0000818138" "00020030" "90" "87" "0" "87" "0" "c.87dup" "r.(?)" "p.(Lys30Glnfs*3)" "1" "0000865305" "00020030" "50" "101" "0" "101" "0" "c.101C>T" "r.(?)" "p.(Thr34Met)" "" "0000893949" "00020030" "30" "148" "0" "148" "0" "c.148C>G" "r.(?)" "p.(Leu50Val)" "" "0000914860" "00020030" "50" "295" "0" "295" "0" "c.295C>G" "r.(?)" "p.(Pro99Ala)" "" "0000926510" "00020030" "50" "163" "0" "163" "0" "c.163A>T" "r.(?)" "p.(Thr55Ser)" "" "0000950928" "00020030" "50" "368" "0" "368" "0" "c.368A>T" "r.(?)" "p.(Lys123Met)" "" "0001015558" "00020030" "50" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Gly62Arg)" "" "0001026941" "00020030" "50" "418" "0" "418" "0" "c.418C>G" "r.(?)" "p.(Arg140Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000108188" "0000174068" "0000108189" "0000174069" "0000108190" "0000174070" "0000108190" "0000174071" "0000108190" "0000174072" "0000108191" "0000174073" "0000108192" "0000174074" "0000108192" "0000174075" "0000108193" "0000174076" "0000108193" "0000174077" "0000108194" "0000174078" "0000108194" "0000174079" "0000108195" "0000174080" "0000108195" "0000174081" "0000108196" "0000174083" "0000108197" "0000174085" "0000108198" "0000174087" "0000108199" "0000174089" "0000108200" "0000174090" "0000108201" "0000174091" "0000108201" "0000174092" "0000108202" "0000174093" "0000108202" "0000174094" "0000108203" "0000174095" "0000108203" "0000174096" "0000108204" "0000174097" "0000108204" "0000174098" "0000108205" "0000174099" "0000108205" "0000174100" "0000292908" "0000649597" "0000332787" "0000730069" "0000389164" "0000818138"