### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IGF2) # 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}}" "IGF2" "insulin-like growth factor 2 (somatomedin A)" "11" "p15.5" "maternal" "NG_008849.1" "UD_132118231018" "" "http://www.LOVD.nl/IGF2" "Growth Genetics Consortium " "1" "5466" "3481" "147470" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden (Nederland) with the help of the Growth Genetics Consortium." "" "g" "http://databases.lovd.nl/shared/refseq/IGF2_codingDNA.html" "1" "" "A Growth Genetics Consortium gene variant database\r\n
\r\n
" "-1" "" "-1" "00001" "2009-08-07 00:00:00" "00006" "2021-07-01 09:09:52" "00000" "2025-11-01 13:22:20" ## 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}}" "00009868" "IGF2" "transcript variant 1" "003" "NM_000612.4" "" "NP_000603.1" "" "" "" "-752" "4413" "543" "2160204" "2150347" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00232" "SRS;RSS" "Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS))" "AD" "180860" "" "" "" "00006" "2013-10-09 19:30:21" "00006" "2021-12-10 21:51:32" "04512" "GRDF" "growth restriction, severe, with distinctive facies (GRDF)" "AD" "616489" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "IGF2" "00232" "IGF2" "04512" ## Individuals ## Do not remove or alter this header ## ## Count = 35 "{{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}}" "00079844" "" "" "" "1" "" "00006" "{PMID:association study:17289909}" "" "" "" "" "" "0" "" "" "" "" "00079845" "" "" "" "1" "" "00006" "{PMID:O\'Dell 1997:9351378}" "" "" "" "" "" "0" "" "" "" "" "00079846" "" "" "" "1" "" "00006" "{PMID:Gaunt 2001:11448941}" "" "" "" "" "" "0" "" "" "" "" "00079847" "" "" "" "1" "" "00006" "{PMID:Gaunt 2001:11448941}" "" "" "" "" "" "0" "" "" "" "" "00079848" "" "" "" "1" "" "00006" "{PMID:Gaunt 2001:11448941}" "" "" "" "" "" "0" "" "" "" "" "00079849" "" "" "" "1" "" "00006" "{PMID:Gaunt 2001:11448941}" "" "" "" "" "" "0" "" "" "" "" "00079850" "" "" "" "1" "" "00006" "{PMID:Gaunt 2001:11448941}" "" "" "" "" "" "0" "" "" "" "" "00079851" "" "" "" "1" "" "00006" "{PMID:Gaunt 2001:11448941}" "" "" "" "" "" "0" "" "" "" "" "00079852" "" "" "" "1" "" "00006" "{PMID:Gaunt 2001:11448941}" "" "" "" "" "" "0" "" "" "" "" "00079853" "" "" "" "1" "" "00006" "{PMID:Gaunt 2001:11448941}" "" "" "" "" "" "0" "" "" "" "" "00079854" "" "" "" "1" "" "00006" "{PMID:Gaunt 2001:11448941}" "" "" "" "" "" "0" "" "" "" "" "00079855" "" "" "" "1" "" "00006" "{PMID:Gaunt 2001:11448941}" "" "" "" "" "" "0" "" "" "" "" "00079856" "" "" "" "1" "" "00006" "{PMID:Gaunt 2001:11448941}" "" "" "" "" "" "0" "" "" "" "" "00079857" "" "" "" "1" "" "00006" "{PMID:Bachner-Melman 2005:16330588}" "" "" "" "" "" "0" "" "" "" "" "00079858" "" "" "" "1" "" "00006" "{PMID:association study:17289909}" "" "" "" "" "" "0" "" "" "" "" "00079859" "" "" "" "1" "" "00006" "{PMID:association study:17289909}" "" "" "" "" "" "0" "" "" "" "" "00079860" "" "" "" "1" "" "00006" "{PMID:association study:17554260}" "" "" "" "" "" "0" "" "" "" "" "00079861" "" "" "" "1" "" "00006" "{PMID:association study:17632545}" "" "" "" "" "" "0" "" "" "" "" "00080083" "" "" "" "1" "" "01594" "{PMID:Hu 2013:23225375}, {PMID:Fokstuen 2013:24664587}, for EUCID-SRS consortium" "mother has balanced complex translocation" "F" "" "" "" "0" "" "" "" "23225375-Pat" "00080084" "" "" "" "1" "" "01594" "{PMID:South 2008:18798325}, {PMID:Fokstuen 2013:24664587}, for EUCID-SRS consortium" "" "F" "" "" "" "0" "" "" "" "18798325-Pat2" "00080085" "" "" "" "1" "" "01594" "{PMID:Bliek 2009:19735747}, {PMID:Begemann 2012:22844132}, {PMID:Fokstuen 2013:24664587}, {PMID:Brown 2014:24668696}, for EUCID-SRS consortium" "" "F" "" "" "" "0" "" "" "" "19735747-PatAII3" "00103959" "" "" "" "1" "" "01962" "{PMID:Yamoto 2017:28489339}" "" "M" "no" "Japan" "" "0" "" "" "" "28489339-Pat1" "00117206" "" "" "" "1" "" "01594" "{PMID:Brioude 2013:24065356}, for EUCID-SRS consortium" "" "" "" "" "" "0" "" "" "" "24065356-Pat" "00117207" "" "" "" "1" "" "01594" "{PMID:Abi Habib 2017:28796236}, for EUCID-SRS consortium" "" "" "" "" "" "0" "" "" "" "28796236-Pat" "00117208" "" "" "" "4" "" "01594" "{PMID:Begemann 2015:26154720}, for EUCID-SRS consortium" "4-generation family, 4 affecteds (2F, 2M), patient III3" "M" "" "Germany" "" "0" "" "" "" "26154720-FamPatIII3" "00117209" "" "" "00117208" "1" "" "01594" "{PMID:Begemann 2015:26154720}, for EUCID-SRS consortium" "pat III4" "F" "" "Germany" "" "0" "" "" "" "26154720-FamPatIII4" "00117210" "" "" "00117208" "1" "" "01594" "{PMID:Begemann 2015:26154720}, for EUCID-SRS consortium" "" "F" "" "Germany" "" "0" "" "" "" "26154720-FamPatIII7" "00117211" "" "" "00117208" "1" "" "01594" "{PMID:Begemann 2015:26154720}, for EUCID-SRS consortium" "" "F" "" "Germany" "" "0" "" "" "" "26154720-FamPatIIV1" "00231001" "" "" "" "1" "" "01962" "{PMID:Masunaga 2020:31544945}, {DOI:Masunaga 2020:10.1210/clinem/dgz034}" "" "F" "no" "Japan" "" "0" "" "" "" "Pat4" "00240219" "" "" "" "1" "" "03322" "{PMID:Masunaga 2020:31544945}, {DOI:Masunaga 2020:10.1210/clinem/dgz034}" "" "M" "no" "Japan" "07y" "0" "" "" "" "Pat2" "00240220" "" "" "" "1" "" "03322" "{PMID:Masunaga 2020:31544945}, {DOI:Masunaga 2020:10.1210/clinem/dgz034}" "" "M" "no" "Japan" "15y" "0" "" "" "" "Pat3" "00240221" "" "" "" "1" "" "03322" "{PMID:Masunaga 2020:31544945}, {DOI:Masunaga 2020:10.1210/clinem/dgz034}" "" "M" "no" "Japan" "09y" "0" "" "" "" "Pat5" "00240222" "" "" "" "1" "" "03322" "{PMID:Masunaga 2020:31544945}, {DOI:Masunaga 2020:10.1210/clinem/dgz034}" "" "M" "no" "Japan" "06y" "0" "" "" "" "Pat1" "00373729" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "" "Chinese" "iw243" "00451719" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 36 "{{individualid}}" "{{diseaseid}}" "00079844" "00000" "00079845" "00000" "00079846" "00000" "00079847" "00000" "00079848" "00000" "00079849" "00000" "00079850" "00000" "00079851" "00000" "00079852" "00000" "00079853" "00000" "00079854" "00000" "00079855" "00000" "00079856" "00000" "00079857" "00000" "00079858" "00000" "00079859" "00000" "00079860" "00000" "00079861" "00000" "00080083" "00198" "00080083" "00232" "00080084" "00232" "00080085" "00232" "00103959" "00232" "00117206" "00232" "00117207" "00232" "00117208" "00232" "00117209" "00232" "00117210" "00232" "00117211" "00232" "00231001" "00232" "00240219" "00232" "00240220" "00232" "00240221" "00232" "00240222" "00232" "00373729" "00232" "00451719" "00232" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00232, 04512 ## Count = 34 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Feeding/Problems}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}" "{{Phenotype/Asymmetry/Body}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000059555" "00000" "00079844" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059556" "00000" "00079845" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059557" "00000" "00079846" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059558" "00000" "00079847" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059559" "00000" "00079848" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059560" "00000" "00079849" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059561" "00000" "00079850" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059562" "00000" "00079851" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059563" "00000" "00079852" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059564" "00000" "00079853" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059565" "00000" "00079854" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059566" "00000" "00079855" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059567" "00000" "00079856" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059568" "00000" "00079857" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059569" "00000" "00079858" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059570" "00000" "00079859" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059571" "00000" "00079860" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059572" "00000" "00079861" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081891" "00232" "00103959" "01962" "Isolated (sporadic)" "" "brachydactyly (HP:000156); clinodactyly (HP:0030084); prominent forehead (HP:0011220)" "" "macrocephaly congenital" "height 32.5cm; weigth 764g" "feeding problems" "01y06m" "" "" "small" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "clinical SRS (Netchine Harbison-Score 5/6)" "SRS" "" "0000082726" "00232" "00080083" "01594" "Unknown" "" "prominent forehead (HP:0011220)" "" "nr" "" "nr" "" "" "" "nr" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "SRS n/a (Netchine Harbison-Score 2/3)" "SRS and 9p deletion syndrome" "" "0000082756" "00232" "00080084" "01594" "Unknown" "" "prominent forehead (HP:0011220)" "" "macrocephaly congenital" "" "feeding problems" "" "" "" "small" "" "" "" "" "growth retardation (postnatal)" "nr" "clinical SRS (Netchine Harbison-Score 5/5)" "SRS like" "" "0000082757" "00232" "00080085" "01594" "Unknown" "" "prominent forehead (HP:0011220)" "" "nr" "" "no feeding problems" "" "" "" "small" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "molecular SRS (Netchine Harbison-Score 3/5)" "SRS like" "" "0000092452" "00232" "00117206" "01594" "Isolated (sporadic)" "" "prominent forehead (HP:0011220)" "" "macrocephaly congenital" "" "feeding problems" "" "" "" "small" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "clinical SRS (Netchine Harbison-Score 5/6)" "" "" "0000092453" "00232" "00117207" "01594" "Isolated (sporadic)" "" "prominent forehead (HP:0011220)" "" "macrocephaly congenital" "" "feeding problems" "" "" "" "small" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "clinical SRS (Netchine Harbison-Score 5/6)" "" "" "0000092454" "00232" "00117208" "01594" "Familial" "" "prominent forehead (HP:0011220)" "" "macrocephaly congenital" "" "feeding problems" "" "" "" "small" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "clinical SRS (Netchine Harbison-Score 5/6)" "SRS" "" "0000092455" "00232" "00117209" "01594" "Familial" "" "prominent forehead (HP:0011220)" "" "macrocephaly congenital" "" "feeding problems" "" "" "" "small" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "clinical SRS (Netchine Harbison-Score 5/6)" "SRS-like" "" "0000092456" "00232" "00117210" "01594" "Familial" "" "prominent forehead (HP:0011220)" "" "macrocephaly congenital" "" "nr" "" "" "" "small" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "clincial SRS (Netchine Harbison-Score 4/5)" "SRS-like" "" "0000092457" "00232" "00117211" "01594" "Familial" "" "prominent forehead (HP:0011220)" "" "macrocephaly congenital" "" "feeding problems" "" "" "" "small" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "clinical SRS (Netchine Harbison-Score 5/6" "SRS-like" "" "0000173484" "00232" "00231001" "01962" "Isolated (sporadic)" "" "cervical vertebral fusion, cleft palate, odontoparallaxis; prominent forehead (HP:0011220)" "" "" "" "" "" "" "" "delayed growth" "" "" "" "" "delayed" "no asymmetric growth" "" "" "" "0000180358" "00232" "00240219" "03322" "Isolated (sporadic)" "07y" "prominent forehead (HP:0011220)" "" "macrocephaly relative" "Gestational age 36w, Birth weight 1164g, Birth length 34.5cm" "feeding problems" "" "" "" "growth retardation" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "Silver-Russell syndrome" "Silver-Russell syndrome" "" "0000180359" "00232" "00240220" "03322" "Isolated (sporadic)" "15y" "prominent forehead (HP:0011220)" "" "macrocephaly relative" "Gestational age 37w, Birth weight 1336g, Birth length 39.0cm" "feeding problems" "" "" "" "growth retardation" "" "" "" "" "growth retardation (postnatal)" "foot" "Silver-Russell syndrome" "Silver-Russell syndrome" "" "0000180360" "00232" "00240221" "03322" "Isolated (sporadic)" "09y" "prominent forehead (HP:0011220)" "" "macrocephaly relative" "Gestational age 37w, Birth weight 1614g, Birth length 41.0cm" "feeding problems" "" "" "" "growth retardation" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "Silver-Russell syndrome" "Silver-Russell syndrome" "" "0000180361" "00232" "00240222" "03322" "Isolated (sporadic)" "06y" "prominent forehead (HP:0011220)" "" "macrocephaly relative" "Gestational age 36w, Birth weight 1192g, Birth length 36.8cm" "feeding infancy" "" "" "" "growth retardation" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "Silver-Russell syndrome" "Silver-Russell syndrome" "" "0000268953" "00232" "00373729" "01864" "Familial, autosomal dominant" "" "HP:0001263; HP:0001622; HP:0001511; HP:0001510; HP:0000175; HP:0001508; HP:0004395; HP:0000023; HP:0003717; HP:0004322; HP:0004325; HP:0001252; HP:0000047; HP:0000325; HP:0000343; HP:0004523; HP:0000527; HP:0000400; HP:0000369; HP:0000347; HP:0200017" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Silver-Russell syndrome 3 (OMIM 616489)" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 35 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000079918" "00079844" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SEQ" "DNA" "" "" "0000079919" "00079845" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SEQ" "DNA" "" "" "0000079920" "00079846" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SSCA;SEQ" "DNA" "" "" "0000079921" "00079847" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SSCA;SEQ" "DNA" "" "" "0000079922" "00079848" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SSCA;SEQ" "DNA" "" "" "0000079923" "00079849" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SSCA;SEQ" "DNA" "" "" "0000079924" "00079850" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SEQ" "DNA" "" "" "0000079925" "00079851" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SEQ" "DNA" "" "" "0000079926" "00079852" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SEQ" "DNA" "" "" "0000079927" "00079853" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "DHPLC;SEQ" "DNA" "" "" "0000079928" "00079854" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "DHPLC;SEQ" "DNA" "" "" "0000079929" "00079855" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SEQ" "DNA" "" "" "0000079930" "00079856" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SSCA;SEQ" "DNA" "" "" "0000079931" "00079857" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SEQ" "DNA" "" "" "0000079932" "00079858" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SEQ" "DNA" "" "" "0000079933" "00079859" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SEQ" "DNA" "" "" "0000079934" "00079860" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SEQ" "DNA" "" "" "0000079935" "00079861" "1" "00006" "00006" "2009-08-18 09:11:52" "" "" "SEQ" "DNA" "" "" "0000080162" "00080083" "1" "01594" "00008" "2016-09-01 17:30:25" "" "" "microscope; FISH; arrayCGH" "DNA" "" "" "0000080163" "00080084" "1" "01594" "00008" "2016-09-01 17:30:25" "" "" "microscope; FISH; arrayCNV" "DNA" "" "" "0000080164" "00080085" "1" "01594" "00008" "2016-09-01 17:30:25" "" "" "microscope; FISH; MLPA; arrayCNV" "DNA" "" "" "0000104422" "00103959" "1" "01962" "01962" "2017-04-26 04:58:56" "" "" "SEQ-NG" "DNA" "" "" "0000117667" "00117206" "1" "01594" "00006" "2017-08-14 13:49:19" "" "" "SEQ" "DNA" "" "WES" "0000117668" "00117207" "1" "01594" "00006" "2017-08-14 13:52:01" "" "" "SEQ" "DNA" "" "" "0000117669" "00117208" "1" "01594" "00006" "2017-08-14 13:58:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000117670" "00117209" "1" "01594" "00006" "2017-08-14 14:05:19" "" "" "SEQ" "DNA" "" "" "0000117671" "00117210" "1" "01594" "00006" "2017-08-14 14:09:48" "" "" "SEQ" "DNA" "" "" "0000117672" "00117211" "1" "01594" "00006" "2017-08-14 14:12:46" "" "" "SEQ" "DNA" "" "" "0000232097" "00231001" "1" "01962" "01962" "2019-04-22 18:03:29" "" "" "SEQ-NG" "DNA" "" "WES" "0000241321" "00240219" "1" "03322" "03322" "2019-06-12 02:26:47" "" "" "SEQ-NG" "DNA" "Blood cell" "" "0000241322" "00240220" "1" "03322" "03322" "2019-06-12 02:40:22" "" "" "SEQ-NG" "DNA" "Blood cell" "" "0000241323" "00240221" "1" "03322" "03322" "2019-06-12 02:47:42" "" "" "SEQ-NG" "DNA" "Blood cell" "" "0000241324" "00240222" "1" "03322" "03322" "2019-06-12 02:52:31" "00006" "2022-05-16 09:45:22" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "Blood cell" "" "0000374962" "00373729" "1" "01864" "01864" "2021-05-19 10:35:24" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000453323" "00451719" "1" "01741" "01741" "2024-07-03 14:12:06" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{geneid}}" "0000079918" "IGF2" "0000079919" "IGF2" "0000079920" "IGF2" "0000079921" "IGF2" "0000079922" "IGF2" "0000079923" "IGF2" "0000079924" "IGF2" "0000079925" "IGF2" "0000079926" "IGF2" "0000079927" "IGF2" "0000079928" "IGF2" "0000079929" "IGF2" "0000079930" "IGF2" "0000079931" "IGF2" "0000079932" "IGF2" "0000079933" "IGF2" "0000079934" "IGF2" "0000079935" "IGF2" "0000117667" "IGF2" "0000117668" "IGF2" "0000117669" "IGF2" "0000117670" "IGF2" "0000117671" "IGF2" "0000117672" "IGF2" "0000232097" "IGF2" "0000241321" "IGF2" "0000241322" "IGF2" "0000241323" "IGF2" "0000241324" "IGF2" "0000374962" "IGF2" "0000453323" "IGF2" ## 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 = 160 "{{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}}" "0000128701" "1" "70" "11" "2153634" "2153634" "subst" "0" "00006" "IGF2_000016" "g.2153634T>C" "?" "{PMID:association study:17289909}, {PMID:association study:18603647}, {PMID:association study:18085551}, {PMID:association study:17012269:" "" "" "" "Germline" "" "rs680" "0" "" "" "g.2132404T>C" "" "likely pathogenic" "" "0000128702" "1" "30" "11" "2153634" "2153634" "subst" "0" "00006" "IGF2_000016" "g.2153634T>C" "?" "{PMID:O\'Dell 1997:09351378}" "ApaI" "820G/A" "associated with body mass index (P=0.0004, n=2560)" "Germline" "" "rs680" "0" "" "" "g.2132404T>C" "" "likely benign" "" "0000128703" "1" "70" "11" "2152541" "2152541" "subst" "0" "00006" "IGF2_000012" "g.2152541C>G" "2652/3744" "{PMID:Gaunt 2001:11448941}, {OMIM147470:0003}" "" "X07868:1926C/G" "G-allele associated with body mass index (P=0.0062, n=1872); in LD with c.*583A>G; incl. 153 homozygous cases" "Germline" "" "rs3168310" "0" "" "" "g.2131311C>G" "" "likely pathogenic" "" "0000128704" "1" "30" "11" "2152259" "2152259" "subst" "0" "00006" "IGF2_000013" "g.2152259G>A" "222/4268" "{PMID:Gaunt 2001:11448941}" "" "X07868:2207C/T" "incl. 4 homozygous cases" "Germline" "" "" "0" "" "" "g.2131029G>A" "" "likely benign" "" "0000128705" "1" "30" "11" "2154188" "2154188" "subst" "0.0628327" "00006" "IGF2_000014" "g.2154188G>A" "433/4426" "{PMID:Gaunt 2001:11448941}" "" "X07868:266C/T" "incl. 26 homozygous cases" "Germline" "" "rs2230949" "0" "" "" "g.2132958G>A" "" "likely benign" "" "0000128706" "1" "30" "11" "2150697" "2150697" "subst" "0" "00006" "IGF2_000015" "g.2150697T>C" "477/4268" "{PMID:Gaunt 2001:11448941}" "" "X07868:3750exA/G" "incl. 19 homozygous cases" "Germline" "" "rs7873" "0" "" "" "g.2129467T>C" "" "likely benign" "" "0000128707" "1" "30" "11" "2153634" "2153634" "subst" "0" "00006" "IGF2_000016" "g.2153634T>C" "3743/5120" "{PMID:Gaunt 2001:11448941}" "ApaI" "X07868:820G/A" "incl. 179 homozygous cases" "Germline" "" "rs680" "0" "" "" "g.2132404T>C" "" "likely benign" "" "0000128708" "1" "70" "11" "0" "0" "" "0" "00006" "IGF2_000000" "g.?" "1128/4788" "{PMID:Gaunt 2001:11448941}, {OMIM147470:0001}" "" "L15440:6815A/T" "T-allele associated with body mass index (P=0.00012, n=2394); incl. 111 homozygous cases" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000128709" "1" "30" "11" "0" "0" "" "0" "00006" "IGF2_000000" "g.?" "985/2916" "{PMID:Gaunt 2001:11448941}" "" "L15440:8173C/T" "incl. 148 homozygous cases" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000128710" "1" "30" "11" "2164672" "2164672" "subst" "0" "00006" "IGF2_000007" "g.2164672G>A" "1142/4074" "{PMID:Gaunt 2001:11448941}" "" "Y13633:2722C/T" "incl. 146 homozygous cases" "Germline" "" "rs17885652" "0" "" "" "g.2143442G>A" "" "likely benign" "" "0000128711" "1" "30" "11" "2164912" "2164912" "subst" "0" "00006" "IGF2_000008" "g.2164912T>G" "2073/4202" "{PMID:Gaunt 2001:11448941}" "" "Y13633:2482A/C" "incl. 473 homozygous cases\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "rs1003483" "0" "" "" "g.2143682T>G" "" "likely benign" "" "0000128712" "1" "30" "11" "2166383" "2166383" "subst" "0" "00006" "IGF2_000006" "g.2166383A>G" "2091/4418" "{PMID:Gaunt 2001:11448941}" "AluI-" "Y13633:1252T/C" "incl. 511 homozygous cases\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "rs10770125" "0" "" "" "g.2145153A>G" "" "likely benign" "" "0000128713" "1" "70" "11" "2166479" "2166479" "subst" "0" "00006" "IGF2_000003" "g.2166479A>G" "1516/3134" "{PMID:Gaunt 2001:11448941}, {OMIM147470:0002}" "" "Y13633:1156T/C" "C-allele associated with body mass index (P=0.017, n=1567); incl. 352 homozygous cases\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.2145249A>G" "" "likely pathogenic" "" "0000128714" "1" "70" "11" "2153634" "2153634" "subst" "0" "00006" "IGF2_000016" "g.2153634T>C" "?" "{PMID:Bachner-Melman 2005:16330588}" "ApaI" "820G/A" "associated with eating disorders (bulimia, dieting, oral control) and body mass index" "Germline" "" "rs680" "0" "" "" "g.2132404T>C" "" "likely pathogenic" "" "0000128715" "1" "70" "11" "2156310" "2156310" "subst" "0" "00006" "IGF2_000009" "g.2156310T>C" "?" "{PMID:association study:17289909}" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "rs3213216" "0" "" "" "g.2135080T>C" "" "likely pathogenic" "" "0000128716" "1" "70" "11" "2155175" "2155175" "subst" "0" "00006" "IGF2_000010" "g.2155175C>G" "?" "{PMID:association study:17289909}" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "rs3213221" "0" "" "" "g.2133945C>G" "" "likely pathogenic" "" "0000128717" "1" "70" "11" "2167143" "2167143" "subst" "0" "00006" "IGF2_000004" "g.2167143A>G" "?" "{PMID:association study:17554260}" "" "" "Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "rs3741208" "0" "" "" "g.2145913A>G" "" "likely pathogenic" "" "0000128718" "1" "70" "11" "2167512" "2167512" "subst" "0" "00006" "IGF2_000005" "g.2167512A>G" "?" "{PMID:association study:17632545}" "" "" "Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "rs1004446" "0" "" "" "g.2146282A>G" "" "likely pathogenic" "" "0000128817" "1" "50" "11" "2166479" "2166479" "subst" "0" "00006" "IGF2_000003" "g.2166479A>G" "0.25-0.53" "" "" "" "Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "rs3741211" "0" "" "" "g.2145249A>G" "" "VUS" "" "0000128818" "1" "50" "11" "2168142" "2168142" "subst" "0" "00006" "IGF2_000001" "g.2168142T>C" "0.00-0.12" "" "" "" "Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "rs10743144" "0" "" "" "g.2146912T>C" "" "VUS" "" "0000128819" "1" "50" "11" "2168147" "2168147" "subst" "0" "00006" "IGF2_000002" "g.2168147C>T" "0.00-0.05" "" "" "" "" "Germline" "" "rs17883917" "0" "" "" "g.2146917C>T" "" "VUS" "" "0000128820" "1" "50" "11" "2154203" "2154203" "subst" "0.000352663" "00006" "IGF2_000020" "g.2154203T>C" "0.00-0.02" "" "" "" "" "Germline" "" "rs9282726" "0" "" "" "g.2132973T>C" "" "VUS" "" "0000128821" "1" "50" "11" "2154358" "2154358" "subst" "0" "00006" "IGF2_000011" "g.2154358G>C" "0.00-0.04" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs1803647" "0" "" "" "g.2133128G>C" "" "VUS" "" "0000128822" "1" "50" "11" "2154211" "2154211" "subst" "0" "00006" "IGF2_000017" "g.2154211G>T" "0.00-0.01" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs1065443" "0" "" "" "g.2132981G>T" "" "VUS" "" "0000128823" "1" "50" "11" "2154074" "2154074" "subst" "0" "00006" "IGF2_000018" "g.2154074G>T" "0.00" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs1050342" "0" "" "" "g.2132844G>T" "" "VUS" "" "0000128824" "1" "50" "11" "2154052" "2154052" "subst" "0" "00006" "IGF2_000019" "g.2154052C>T" "0.00" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs12993" "0" "" "" "g.2132822C>T" "" "VUS" "" "0000129090" "21" "90" "11" "0" "0" "" "0" "01594" "CDKN1C_000056" "g.[NC_000009.11:pter_(15674745_16600000)]delins[pter_(2192146_2800000);NC_000004.11:(131100001_135285075)_(136913555_139500000)]" "" "for EUCID-SRS consortium" "" "" "unbalanced translocation, extra copy 1.95 Mb 11p15.5" "DUPLICATE record" "" "" "0" "" "arr[hg19] 11p15.5(205,983-2,192,146)x3" "" "" "pathogenic" "" "0000129092" "21" "90" "11" "0" "0" "" "0" "01594" "CDKN1C_000110" "g.[NC_000004.11:pter_(3416499_6000000)]delinspter_(2914486_10700000)" "" "for EUCID-SRS consortium" "" "" "unbalanced translocation, extra copy 11p15" "DUPLICATE record" "" "" "0" "" "" "" "" "pathogenic" "" "0000129094" "21" "90" "11" "0" "0" "" "0" "01594" "CDKN1C_000110" "g.[NC_000004.11:(183200001_185163006)_(190963006_qter)]delins(pter_180000)_(4143424_10700000)inv" "" "for EUCID-SRS consortium" "" "" "unbalanced translocation, extra copy of chr11 sequences translocated to chr4, ICR1 and ICR2 affected" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000169147" "11" "70" "11" "2156637" "2156644" "delins" "0" "01962" "IGF2_000021" "g.2156637_2156644delinsTTACCT" "" "{PMID:Yamoto 2017:28489339}" "" "" "" "De novo" "" "" "0" "" "" "g.2135407_2135414delinsTTACCT" "" "likely pathogenic" "" "0000188634" "0" "90" "11" "2156676" "2156676" "subst" "0" "01594" "IGF2_000022" "g.2156676G>C" "" "{PMID:Abi Habib 2017:28796236}, for EUCID-SRS consortium" "" "" "" "De novo" "" "" "0" "" "" "g.2135446G>C" "" "pathogenic" "" "0000188635" "0" "90" "11" "2154894" "2154895" "dup" "0" "01594" "IGF2_000023" "g.2154894_2154895dup" "" "{PMID:Abi Habib 2017:28796236}, for EUCID-SRS consortium" "" "" "" "De novo" "" "" "0" "" "" "g.2133664_2133665dup" "" "pathogenic" "" "0000188636" "10" "90" "11" "2156731" "2156731" "subst" "0" "01594" "IGF2_000024" "g.2156731G>T" "" "{PMID:Begemann 2015:26154720}, for EUCID-SRS consortium" "" "NM_001127598.2:c.191G>A (Ser64Ter)" "" "Germline" "yes" "" "0" "" "" "g.2135501G>T" "" "pathogenic" "" "0000188637" "10" "90" "11" "2156731" "2156731" "subst" "0" "01594" "IGF2_000024" "g.2156731G>T" "" "{PMID:Begemann 2015:26154720}, for EUCID-SRS consortium" "" "" "" "Germline" "yes" "" "0" "" "" "g.2135501G>T" "" "pathogenic" "" "0000188638" "10" "90" "11" "2156731" "2156731" "subst" "0" "01594" "IGF2_000024" "g.2156731G>T" "" "{PMID:Begemann 2015:26154720}, for EUCID-SRS consortium" "" "" "" "Germline" "yes" "" "0" "" "" "g.2135501G>T" "" "pathogenic" "" "0000188639" "11" "90" "11" "2156731" "2156731" "subst" "0" "01594" "IGF2_000024" "g.2156731G>T" "" "{PMID:Begemann 2015:26154720}, for EUCID-SRS consortium" "" "" "" "Germline" "yes" "" "0" "" "" "g.2135501G>T" "" "pathogenic" "" "0000249153" "0" "10" "11" "2182004" "2182004" "subst" "0.984074" "02325" "INS_000003" "g.2182004A>G" "" "" "" "INS(NM_001185098.2):c.187+11T>C, INS-IGF2(NM_001042376.3):c.187+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2160774A>G" "" "benign" "" "0000281549" "0" "10" "11" "2181060" "2181060" "subst" "0.734296" "02325" "INS_000001" "g.2181060T>G" "" "" "" "INS(NM_001185098.2):c.*22A>C, INS-IGF2(NM_001042376.3):c.187+955A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2159830T>G" "" "benign" "" "0000311834" "0" "30" "11" "2186541" "2186541" "subst" "0.000452555" "02325" "TH_000008" "g.2186541C>T" "" "" "" "TH(NM_000360.3):c.1255G>A (p.(Val419Met)), TH(NM_199292.3):c.1348G>A (p.V450M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165311C>T" "" "likely benign" "" "0000311835" "0" "50" "11" "2186495" "2186495" "subst" "2.03414E-5" "02325" "TH_000006" "g.2186495G>C" "" "" "" "TH(NM_199292.3):c.1394C>G (p.S465C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165265G>C" "" "VUS" "" "0000311836" "0" "30" "11" "2185589" "2185589" "subst" "0.000280076" "02325" "TH_000004" "g.2185589G>A" "" "" "" "TH(NM_199292.2):c.1461C>T (p.S487=), TH(NM_199292.3):c.1461C>T (p.S487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2164359G>A" "" "likely benign" "" "0000311837" "0" "30" "11" "2185534" "2185534" "subst" "0.000208672" "02325" "TH_000003" "g.2185534C>T" "" "" "" "TH(NM_000360.4):c.1423G>A (p.(Val475Met)), TH(NM_199292.3):c.1516G>A (p.V506M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2164304C>T" "" "likely benign" "" "0000313314" "0" "30" "11" "2186970" "2186970" "subst" "0.000102041" "02329" "TH_000014" "g.2186970G>A" "" "" "" "TH(NM_199292.3):c.1221C>T (p.F407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165740G>A" "" "likely benign" "" "0000313315" "0" "30" "11" "2186889" "2186889" "subst" "0.00972359" "02329" "TH_000011" "g.2186889G>A" "" "" "" "TH(NM_000360.3):c.1200+9C>T (p.(=)), TH(NM_199292.2):c.1293+9C>T, TH(NM_199292.3):c.1293+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165659G>A" "" "likely benign" "" "0000316582" "0" "50" "11" "2186928" "2186928" "subst" "0.000240604" "01943" "TH_000012" "g.2186928G>C" "" "" "" "TH(NM_000360.3):c.1170C>G (p.(=)), TH(NM_199292.2):c.1263C>G (p.A421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165698G>C" "" "VUS" "" "0000316583" "0" "30" "11" "2186889" "2186889" "subst" "0.00972359" "01943" "TH_000011" "g.2186889G>A" "" "" "" "TH(NM_000360.3):c.1200+9C>T (p.(=)), TH(NM_199292.2):c.1293+9C>T, TH(NM_199292.3):c.1293+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165659G>A" "" "likely benign" "" "0000316584" "0" "50" "11" "2186478" "2186478" "subst" "8.95124E-5" "01943" "TH_000005" "g.2186478C>A" "" "" "" "TH(NM_199292.2):c.1411G>T (p.A471S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165248C>A" "" "VUS" "" "0000321914" "0" "50" "11" "2154357" "2154357" "subst" "0" "01804" "IGF2_000025" "g.2154357G>A" "" "" "" "IGF2(NM_000612.4):c.403C>T (p.(Arg135Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2133127G>A" "" "VUS" "" "0000321915" "0" "30" "11" "2170401" "2170401" "subst" "0.000628099" "01804" "INS-IGF2_000001" "g.2170401A>G" "" "" "" "INS-IGF2(NM_001042376.2):c.362T>C (p.(Ile121Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2149171A>G" "" "likely benign" "" "0000321917" "0" "30" "11" "2170469" "2170469" "subst" "0.00263413" "01804" "IGF2_000040" "g.2170469G>A" "" "" "" "INS-IGF2(NM_001042376.2):c.294C>T (p.(Ala98=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2149239G>A" "" "likely benign" "" "0000321921" "0" "50" "11" "2182107" "2182107" "subst" "0" "01804" "INS_000005" "g.2182107C>A" "" "" "" "INS(NM_000207.2):c.95G>T (p.(Gly32Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2160877C>A" "" "VUS" "" "0000321922" "0" "30" "11" "2182139" "2182139" "subst" "0.0013956" "01804" "INS_000006" "g.2182139T>C" "" "" "" "INS(NM_000207.2):c.63A>G (p.(Pro21=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2160909T>C" "" "likely benign" "" "0000321923" "0" "30" "11" "2182166" "2182166" "subst" "0.00374911" "01804" "INS_000007" "g.2182166C>T" "" "" "" "INS(NM_000207.2):c.36G>A (p.(Ala12=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2160936C>T" "" "likely benign" "" "0000321927" "0" "30" "11" "2186518" "2186518" "subst" "0.00317916" "01804" "TH_000007" "g.2186518C>T" "" "" "" "TH(NM_000360.3):c.1278G>A (p.(Thr426=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165288C>T" "" "likely benign" "" "0000321930" "0" "30" "11" "2186605" "2186605" "subst" "1.66585E-5" "01804" "TH_000010" "g.2186605G>A" "" "" "" "TH(NM_000360.3):c.1201-10C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165375G>A" "" "likely benign" "" "0000321931" "0" "30" "11" "2186889" "2186889" "subst" "0.00972359" "01804" "TH_000011" "g.2186889G>A" "" "" "" "TH(NM_000360.3):c.1200+9C>T (p.(=)), TH(NM_199292.2):c.1293+9C>T, TH(NM_199292.3):c.1293+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165659G>A" "" "likely benign" "" "0000321934" "0" "50" "11" "2187243" "2187243" "subst" "0" "01804" "TH_000015" "g.2187243T>G" "" "" "" "TH(NM_000360.3):c.1093A>C (p.(Lys365Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2166013T>G" "" "VUS" "" "0000339671" "0" "10" "11" "2185574" "2185574" "subst" "0" "02327" "TH_000033" "g.2185574C>T" "" "" "" "TH(NM_000360.3):c.1383G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2164344C>T" "" "benign" "" "0000474412" "11" "90" "11" "2156657" "2156657" "subst" "0" "01962" "IGF2_000026" "g.2156657A>T" "" "{PMID:Masunaga 2020:31544945}, {DOI:Masunaga 2020:10.1210/clinem/dgz034}" "" "" "" "Germline" "" "" "0" "" "" "g.2135427A>T" "" "pathogenic (paternal)" "" "0000487190" "11" "90" "11" "2154844" "2154844" "subst" "0" "03322" "IGF2_000027" "g.2154844C>T" "" "{PMID:Masunaga 2020:31544945}, {DOI:Masunaga 2020:10.1210/clinem/dgz034}" "" "" "" "Germline" "" "" "0" "" "" "g.2133614C>T" "" "pathogenic (paternal)" "ACMG" "0000487191" "11" "90" "11" "2154842" "2154842" "subst" "0" "03322" "IGF2_000028" "g.2154842A>G" "" "{PMID:Masunaga 2020:31544945}, {DOI:Masunaga 2020:10.1210/clinem/dgz034}" "" "" "" "Germline" "" "" "0" "" "" "g.2133612A>G" "" "likely pathogenic (paternal)" "ACMG" "0000487192" "0" "90" "11" "2156620" "2156620" "subst" "0" "03322" "IGF2_000029" "g.2156620C>G" "" "{PMID:Masunaga 2020:31544945}, {DOI:Masunaga 2020:10.1210/clinem/dgz034}" "" "" "variant identified in leukocytes, barely detected in other tissues examined" "Somatic" "" "" "0" "" "" "g.2135390C>G" "" "pathogenic" "ACMG" "0000487193" "11" "90" "11" "2156760" "2156760" "subst" "0" "03322" "IGF2_000030" "g.2156760C>G" "" "{PMID:Masunaga 2020:31544945}, {DOI:Masunaga 2020:10.1210/clinem/dgz034}" "" "" "" "Germline" "" "" "0" "" "" "g.2135530C>G" "" "pathogenic (paternal)" "ACMG" "0000543445" "0" "30" "11" "2154293" "2154293" "subst" "0.00252225" "01804" "IGF2_000032" "g.2154293C>T" "" "" "" "IGF2(NM_000612.4):c.467G>A (p.(Arg156His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2133063C>T" "" "likely benign" "" "0000543446" "0" "30" "11" "2154317" "2154317" "subst" "4.17307E-6" "01804" "IGF2_000033" "g.2154317G>T" "" "" "" "IGF2(NM_000612.4):c.443C>A (p.(Ala148Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2133087G>T" "" "likely benign" "" "0000543447" "0" "30" "11" "2154333" "2154333" "subst" "0.00011682" "01804" "IGF2_000034" "g.2154333C>T" "" "" "" "IGF2(NM_000612.4):c.427G>A (p.(Ala143Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2133103C>T" "" "likely benign" "" "0000543448" "0" "50" "11" "2161430" "2161430" "subst" "0.000810386" "01804" "IGF2_000035" "g.2161430G>A" "" "" "" "IGF2(NM_000612.4):c.-1978C>T (p.(=)), IGF2(NM_001127598.3):c.97C>T (p.Q33*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2140200G>A" "" "VUS" "" "0000543449" "0" "30" "11" "2161530" "2161530" "subst" "0.0275151" "01804" "IGF2_000036" "g.2161530C>T" "" "" "" "IGF2(NM_001127598.1):c.-3-1G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2140300C>T" "" "likely benign" "" "0000543450" "0" "50" "11" "2170413" "2170413" "subst" "3.28364E-5" "01804" "IGF2_000037" "g.2170413G>A" "" "" "" "INS-IGF2(NM_001042376.2):c.350C>T (p.(Pro117Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2149183G>A" "" "VUS" "" "0000543451" "0" "30" "11" "2170443" "2170443" "subst" "0.00041863" "01804" "IGF2_000038" "g.2170443C>T" "" "" "" "INS-IGF2(NM_001042376.2):c.320G>A (p.(Arg107Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2149213C>T" "" "likely benign" "" "0000543452" "0" "30" "11" "2170458" "2170458" "subst" "0.000114903" "01804" "IGF2_000039" "g.2170458G>A" "" "" "" "INS-IGF2(NM_001042376.2):c.305C>T (p.(Ser102Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2149228G>A" "" "likely benign" "" "0000543453" "0" "30" "11" "2170478" "2170478" "subst" "0" "01804" "IGF2_000041" "g.2170478A>G" "" "" "" "INS-IGF2(NM_001042376.2):c.285T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2149248A>G" "" "likely benign" "" "0000543455" "0" "90" "11" "2182104" "2182104" "subst" "0" "01804" "IGF2_000043" "g.2182104G>C" "" "" "" "INS(NM_000207.2):c.98C>G (p.(Ser33*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2160874G>C" "" "pathogenic" "" "0000543456" "0" "30" "11" "2182135" "2182135" "subst" "0.000399272" "01804" "IGF2_000044" "g.2182135C>T" "" "" "" "INS(NM_000207.2):c.67G>A (p.(Ala23Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2160905C>T" "" "likely benign" "" "0000543457" "0" "70" "11" "2182185" "2182185" "subst" "9.49378E-5" "01804" "IGF2_000045" "g.2182185C>T" "" "" "" "INS(NM_000207.2):c.17G>A (p.(Arg6His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2160955C>T" "" "likely pathogenic" "" "0000543458" "0" "30" "11" "2182196" "2182196" "subst" "8.2661E-6" "01804" "IGF2_000046" "g.2182196G>A" "" "" "" "INS(NM_000207.2):c.6C>T (p.(Ala2=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2160966G>A" "" "likely benign" "" "0000543462" "0" "50" "11" "2185517" "2185517" "del" "0" "01943" "IGF2_000050" "g.2185517del" "" "" "" "TH(NM_199292.2):c.1535delG (p.G512Vfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2164287del" "" "VUS" "" "0000543463" "0" "50" "11" "2185534" "2185534" "subst" "0.000208672" "01804" "TH_000003" "g.2185534C>T" "" "" "" "TH(NM_000360.4):c.1423G>A (p.(Val475Met)), TH(NM_199292.3):c.1516G>A (p.V506M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2164304C>T" "" "VUS" "" "0000543464" "0" "30" "11" "2185559" "2185559" "subst" "0.000424957" "01943" "IGF2_000051" "g.2185559G>A" "" "" "" "TH(NM_199292.2):c.1491C>T (p.I497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2164329G>A" "" "likely benign" "" "0000543466" "0" "70" "11" "2185575" "2185575" "subst" "0" "02327" "IGF2_000052" "g.2185575G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2164345G>A" "" "likely pathogenic" "" "0000543467" "0" "50" "11" "2186459" "2186459" "subst" "0.00018314" "01943" "IGF2_000053" "g.2186459C>G" "" "" "" "TH(NM_000360.3):c.1334+3G>C (p.?), TH(NM_199292.2):c.1427+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165229C>G" "" "VUS" "" "0000543468" "0" "50" "11" "2186459" "2186459" "subst" "0.00018314" "01804" "IGF2_000053" "g.2186459C>G" "" "" "" "TH(NM_000360.3):c.1334+3G>C (p.?), TH(NM_199292.2):c.1427+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165229C>G" "" "VUS" "" "0000543469" "0" "50" "11" "2186499" "2186499" "subst" "2.03416E-5" "02325" "IGF2_000054" "g.2186499C>T" "" "" "" "TH(NM_199292.3):c.1390G>A (p.V464M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165269C>T" "" "VUS" "" "0000543470" "0" "50" "11" "2186500" "2186500" "subst" "0" "02327" "IGF2_000055" "g.2186500G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165270G>C" "" "VUS" "" "0000543472" "0" "30" "11" "2186541" "2186541" "subst" "0.000452555" "01804" "TH_000008" "g.2186541C>T" "" "" "" "TH(NM_000360.3):c.1255G>A (p.(Val419Met)), TH(NM_199292.3):c.1348G>A (p.V450M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165311C>T" "" "likely benign" "" "0000543473" "0" "30" "11" "2186563" "2186563" "subst" "4.08868E-6" "01804" "IGF2_000057" "g.2186563G>A" "" "" "" "TH(NM_000360.3):c.1233C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165333G>A" "" "likely benign" "" "0000543474" "0" "30" "11" "2186998" "2186998" "subst" "9.96041E-5" "01943" "IGF2_000058" "g.2186998G>C" "" "" "" "TH(NM_199292.2):c.1198-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165768G>C" "" "likely benign" "" "0000543475" "0" "30" "11" "2187005" "2187005" "subst" "0.000188773" "01804" "IGF2_000059" "g.2187005C>G" "" "" "" "TH(NM_000360.3):c.1105-12G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165775C>G" "" "likely benign" "" "0000543476" "0" "10" "11" "2187071" "2187071" "subst" "0" "02327" "IGF2_000060" "g.2187071T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165841T>C" "" "benign" "" "0000543477" "0" "50" "11" "2187234" "2187234" "subst" "0" "01804" "IGF2_000061" "g.2187234T>A" "" "" "" "TH(NM_000360.3):c.1102A>T (p.(Thr368Ser)), TH(NM_199292.2):c.1195A>T (p.T399S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2166004T>A" "" "VUS" "" "0000543478" "0" "50" "11" "2187234" "2187234" "subst" "0" "01943" "IGF2_000061" "g.2187234T>A" "" "" "" "TH(NM_000360.3):c.1102A>T (p.(Thr368Ser)), TH(NM_199292.2):c.1195A>T (p.T399S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2166004T>A" "" "VUS" "" "0000543479" "0" "50" "11" "2187260" "2187260" "subst" "0" "01943" "IGF2_000062" "g.2187260G>A" "" "" "" "TH(NM_199292.2):c.1169C>T (p.S390L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2166030G>A" "" "VUS" "" "0000613240" "0" "70" "11" "2154806" "2154809" "dup" "0" "02327" "IGF2_000063" "g.2154806_2154809dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2133576_2133579dup" "" "likely pathogenic" "" "0000613241" "0" "70" "11" "2156654" "2156654" "subst" "0" "01804" "IGF2_000064" "g.2156654C>T" "" "" "" "IGF2(NM_000612.4):c.100G>A (p.(Gly34Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2135424C>T" "" "likely pathogenic" "" "0000613242" "0" "50" "11" "2185555" "2185555" "subst" "0.000122431" "02325" "IGF2_000065" "g.2185555C>T" "" "" "" "TH(NM_199292.3):c.1495G>A (p.V499M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2164325C>T" "" "VUS" "" "0000613243" "0" "30" "11" "2187267" "2187267" "subst" "0" "01804" "IGF2_000066" "g.2187267C>T" "" "" "" "TH(NM_000360.3):c.1069G>A (p.(Gly357Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2166037C>T" "" "likely benign" "" "0000679139" "0" "30" "11" "2185527" "2185527" "subst" "0" "01943" "IGF2_000067" "g.2185527C>T" "" "" "" "TH(NM_199292.2):c.1523G>A (p.R508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679140" "0" "90" "11" "2186957" "2186957" "subst" "4.07877E-6" "01943" "TH_000013" "g.2186957G>T" "" "" "" "TH(NM_199292.2):c.1234C>A (p.Q412K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723363" "0" "50" "11" "2154896" "2154896" "subst" "0" "01804" "IGF2_000068" "g.2154896C>G" "" "" "" "IGF2(NM_000612.4):c.158-1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723364" "0" "50" "11" "2185588" "2185588" "subst" "0" "02325" "IGF2_000069" "g.2185588C>T" "" "" "" "TH(NM_199292.3):c.1462G>A (p.V488M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723365" "0" "50" "11" "2187275" "2187275" "subst" "0" "02329" "TH_000016" "g.2187275G>A" "" "" "" "TH(NM_199292.3):c.1154C>T (p.A385V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000785902" "0" "90" "11" "2149030" "2152450" "delins" "0" "01864" "IGF2_000070" "g.2149030_2152450delinsT" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000805062" "0" "90" "11" "2186951" "2186951" "subst" "1.63163E-5" "02327" "IGF2_000071" "g.2186951C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805063" "0" "90" "11" "2187233" "2187233" "subst" "0" "02327" "IGF2_000072" "g.2187233G>A" "" "" "" "TH(NM_000360.4):c.1103C>T (p.(Thr368Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852854" "0" "30" "11" "2185589" "2185589" "subst" "0.000280076" "01943" "TH_000004" "g.2185589G>A" "" "" "" "TH(NM_199292.2):c.1461C>T (p.S487=), TH(NM_199292.3):c.1461C>T (p.S487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862471" "0" "50" "11" "2161364" "2161364" "subst" "0" "01804" "IGF2_000073" "g.2161364C>A" "" "" "" "IGF2(NM_001127598.1):c.162+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862472" "0" "30" "11" "2161488" "2161488" "subst" "0.0089387" "01804" "IGF2_000074" "g.2161488G>C" "" "" "" "IGF2(NM_000612.4):c.-2036C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862473" "0" "30" "11" "2181205" "2181205" "subst" "2.47687E-5" "01804" "IGF2_000075" "g.2181205C>T" "" "" "" "INS(NM_000207.2):c.210G>A (p.(Gly70=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862474" "0" "30" "11" "2181237" "2181237" "subst" "0.00238929" "01804" "IGF2_000076" "g.2181237C>T" "" "" "" "INS(NM_000207.2):c.188-10G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862475" "0" "10" "11" "2181243" "2181243" "subst" "0.00124592" "01804" "IGF2_000077" "g.2181243G>A" "" "" "" "INS(NM_000207.2):c.188-16C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862476" "0" "50" "11" "2182036" "2182036" "subst" "1.23466E-5" "01804" "IGF2_000078" "g.2182036G>A" "" "" "" "INS(NM_000207.2):c.166C>T (p.(Arg56Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862477" "0" "70" "11" "2182076" "2182076" "del" "0" "01804" "IGF2_000079" "g.2182076del" "" "" "" "INS(NM_000207.2):c.126del (p.(Cys43Alafs*88))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862478" "0" "70" "11" "2182079" "2182079" "del" "0" "01804" "IGF2_000080" "g.2182079del" "" "" "" "INS(NM_000207.2):c.123del (p.(Val42Cysfs*89))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000868867" "0" "90" "11" "2154842" "2154842" "subst" "0" "03779" "IGF2_000028" "g.2154842A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1564894932" "0" "" "" "" "" "pathogenic" "" "0000889756" "0" "50" "11" "2156733" "2156733" "subst" "6.52039E-5" "01804" "IGF2_000081" "g.2156733C>A" "" "" "" "IGF2(NM_000612.4):c.21G>T (p.(Lys7Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889757" "0" "50" "11" "2168882" "2168882" "subst" "0" "01804" "IGF2_000082" "g.2168882C>T" "" "" "" "INS-IGF2(NM_001042376.2):c.563G>A (p.(Cys188Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889758" "0" "30" "11" "2181169" "2181169" "subst" "0" "01804" "IGF2_000083" "g.2181169C>T" "" "" "" "INS(NM_000207.2):c.246G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889759" "0" "50" "11" "2181243" "2181243" "subst" "0" "01804" "IGF2_000084" "g.2181243G>T" "" "" "" "INS(NM_000207.2):c.188-16C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000903261" "0" "50" "11" "2154905" "2154905" "subst" "0" "03779" "IGF2_000085" "g.2154905C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000905094" "0" "70" "11" "2154814" "2154814" "subst" "0" "03779" "IGF2_000086" "g.2154814A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000905838" "0" "90" "11" "2156648" "2156648" "subst" "0" "03779" "IGF2_000087" "g.2156648C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000913551" "0" "50" "11" "2181179" "2181179" "subst" "0" "01804" "IGF2_000088" "g.2181179G>A" "" "" "" "INS(NM_000207.2):c.236C>T (p.(Pro79Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925366" "0" "30" "11" "2168779" "2168779" "subst" "0" "01804" "IGF2_000089" "g.2168779G>A" "" "" "" "INS-IGF2(NM_001042376.2):c.*46+17C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929837" "0" "30" "11" "2154813" "2154813" "subst" "0.000544451" "01804" "IGF2_000090" "g.2154813C>T" "" "" "" "IGF2(NM_000612.4):c.240G>A (p.(Leu80=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929838" "0" "30" "11" "2169013" "2169013" "subst" "0" "01804" "IGF2_000091" "g.2169013A>G" "" "" "" "INS-IGF2(NM_001042376.2):c.432T>C (p.(Leu144=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929839" "0" "30" "11" "2170468" "2170468" "subst" "6.97528E-5" "01804" "IGF2_000092" "g.2170468C>T" "" "" "" "INS-IGF2(NM_001042376.2):c.295G>A (p.(Gly99Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929840" "0" "70" "11" "2181258" "2181258" "subst" "0" "01804" "INS_000010" "g.2181258C>T" "" "" "" "INS(NM_000207.2):c.188-31G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000949640" "0" "30" "11" "2168844" "2168844" "subst" "0" "01804" "IGF2_000093" "g.2168844A>G" "" "" "" "IGF2(NM_001007139.4):c.-55T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949641" "0" "10" "11" "2185556" "2185556" "subst" "0.00662589" "01804" "IGF2_000094" "g.2185556G>A" "" "" "" "TH(NM_000360.3):c.1401C>T (p.(Asp467=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966296" "0" "30" "11" "2169055" "2169055" "subst" "0.00125471" "01804" "IGF2_000095" "g.2169055G>C" "" "" "" "INS-IGF2(NM_001042376.2):c.408-18C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966297" "0" "30" "11" "2170429" "2170429" "subst" "0.000119024" "01804" "IGF2_000096" "g.2170429C>G" "" "" "" "INS-IGF2(NM_001042376.2):c.334G>C (p.(Gly112Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966299" "0" "10" "11" "2182210" "2182210" "subst" "0.00869396" "01804" "IGF2_000097" "g.2182210G>A" "" "" "" "INS-IGF2(NM_001042376.2):c.-9C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966301" "0" "50" "11" "2185568" "2185568" "subst" "0" "01804" "IGF2_000098" "g.2185568C>A" "" "" "" "TH(NM_000360.3):c.1389G>T (p.(Thr463=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966302" "0" "50" "11" "2185580" "2185580" "subst" "4.96199E-5" "01804" "IGF2_000099" "g.2185580G>A" "" "" "" "TH(NM_000360.3):c.1377C>T (p.(Phe459=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966303" "0" "30" "11" "2186928" "2186928" "subst" "4.48584E-5" "01804" "IGF2_000100" "g.2186928G>A" "" "" "" "INS(NM_000207.2):c.-4548C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966304" "0" "30" "11" "2186998" "2186998" "subst" "8.30034E-6" "01804" "IGF2_000101" "g.2186998G>A" "" "" "" "INS(NM_000207.2):c.-4618C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966305" "0" "70" "11" "2187270" "2187270" "subst" "0" "02327" "TH_000077" "g.2187270G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979513" "0" "50" "11" "2185608" "2185608" "subst" "0" "01804" "IGF2_000102" "g.2185608C>T" "" "" "" "TH(NM_000360.3):c.1349G>A (p.(Arg450His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979514" "0" "50" "11" "2185609" "2185609" "subst" "0" "01804" "IGF2_000103" "g.2185609G>A" "" "" "" "TH(NM_000360.4):c.1348C>T (p.(Arg450Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979515" "0" "30" "11" "2185633" "2185633" "subst" "5.35452E-6" "01804" "IGF2_000104" "g.2185633G>C" "" "" "" "INS(NM_000207.2):c.-3253C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979516" "0" "30" "11" "2186488" "2186488" "subst" "0" "01804" "IGF2_000105" "g.2186488G>A" "" "" "" "INS(NM_000207.2):c.-4108C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979517" "0" "30" "11" "2186928" "2186928" "subst" "0.000240604" "01804" "TH_000012" "g.2186928G>C" "" "" "" "TH(NM_000360.3):c.1170C>G (p.(=)), TH(NM_199292.2):c.1263C>G (p.A421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979518" "0" "90" "11" "2187233" "2187233" "subst" "0" "01804" "IGF2_000072" "g.2187233G>A" "" "" "" "TH(NM_000360.4):c.1103C>T (p.(Thr368Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000987923" "0" "50" "11" "2156600" "2156600" "subst" "0" "01741" "IGF2_000106" "g.2156600A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2135370A>G" "" "VUS" "" "0000998949" "0" "30" "11" "2161513" "2161513" "subst" "1.22856E-5" "01804" "IGF2_000107" "g.2161513T>G" "" "" "" "IGF2(NM_001127598.1):c.14A>C (p.(Asp5Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998950" "0" "30" "11" "2170412" "2170412" "subst" "2.46303E-5" "01804" "IGF2_000108" "g.2170412C>T" "" "" "" "IGF2(NM_001007139.4):c.-305G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998951" "0" "90" "11" "2181150" "2181150" "subst" "0" "02329" "INS_000011" "g.2181150G>A" "" "" "" "INS(NM_001185098.2):c.265C>T (p.R89C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014778" "0" "50" "11" "2161430" "2161430" "subst" "0.000810386" "02325" "IGF2_000035" "g.2161430G>A" "" "" "" "IGF2(NM_000612.4):c.-1978C>T (p.(=)), IGF2(NM_001127598.3):c.97C>T (p.Q33*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014779" "0" "30" "11" "2170501" "2170501" "subst" "0" "01804" "IGF2_000109" "g.2170501C>T" "" "" "" "IGF2(NM_000612.4):c.-11049G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014780" "0" "30" "11" "2185574" "2185574" "subst" "0" "01804" "TH_000033" "g.2185574C>T" "" "" "" "TH(NM_000360.3):c.1383G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014781" "0" "50" "11" "2187001" "2187001" "subst" "0" "01804" "IGF2_000110" "g.2187001G>A" "" "" "" "INS(NM_000207.2):c.-4621C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025955" "0" "30" "11" "2170367" "2170367" "subst" "0" "01804" "IGF2_000111" "g.2170367T>G" "" "" "" "IGF2(NM_000612.4):c.-10915A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025956" "0" "30" "11" "2170382" "2170382" "subst" "4.92752E-5" "01804" "IGF2_000112" "g.2170382C>T" "" "" "" "IGF2(NM_001007139.4):c.-275G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025957" "0" "30" "11" "2182003" "2182003" "subst" "2.06349E-5" "01804" "IGF2_000113" "g.2182003C>T" "" "" "" "INS(NM_000207.2):c.187+12G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025958" "0" "90" "11" "2182108" "2182108" "subst" "0" "01804" "INS_000012" "g.2182108C>T" "" "" "" "INS(NM_000207.2):c.94G>A (p.(Gly32Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038396" "0" "50" "11" "2154255" "2154255" "dup" "0" "01804" "IGF2_000114" "g.2154255dup" "" "" "" "IGF2(NM_000612.6):c.509dup (p.(Ala171Argfs*53))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038397" "0" "50" "11" "2168864" "2168864" "subst" "0.000105608" "01804" "IGF2_000115" "g.2168864C>T" "" "" "" "INS-IGF2(NM_001042376.2):c.581G>A (p.(Arg194Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046304" "0" "30" "11" "2168873" "2168873" "subst" "0" "01804" "IGF2_000116" "g.2168873C>G" "" "" "" "IGF2(NM_001007139.4):c.-84G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046305" "0" "70" "11" "2182082" "2182082" "subst" "0" "01804" "IGF2_000117" "g.2182082G>C" "" "" "" "INS(NM_000207.2):c.120C>G (p.(Tyr40Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001053766" "0" "30" "11" "2154783" "2154783" "subst" "0.000127945" "01804" "IGF2_000118" "g.2154783G>A" "" "" "" "IGF2(NM_000612.6):c.270C>T (p.(Ser90=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes IGF2 ## Count = 160 "{{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}}" "0000128701" "00009868" "70" "1126" "0" "1126" "0" "c.*583A>G" "r.(?)" "p.(=)" "5" "0000128702" "00009868" "30" "1126" "0" "1126" "0" "c.*583A>G" "r.(?)" "p.(=)" "5" "0000128703" "00009868" "70" "2219" "0" "2219" "0" "c.*1676G>C" "r.(?)" "p.(=)" "5" "0000128704" "00009868" "30" "2501" "0" "2501" "0" "c.*1958C>T" "r.(?)" "p.(=)" "5" "0000128705" "00009868" "30" "572" "0" "572" "0" "c.*29C>T" "r.(?)" "p.(=)" "5" "0000128706" "00009868" "30" "4063" "0" "4063" "0" "c.*3520A>G" "r.(?)" "p.(=)" "5" "0000128707" "00009868" "30" "1126" "0" "1126" "0" "c.*583A>G" "r.(?)" "p.(=)" "5" "0000128708" "00009868" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "00" "0000128709" "00009868" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "00" "0000128710" "00009868" "30" "-5220" "0" "-5220" "0" "c.-5220C>T" "r.(?)" "p.(=)" "00-2i" "0000128711" "00009868" "30" "-5460" "0" "-5460" "0" "c.-5460A>C" "r.(?)" "p.(=)" "00-2i" "0000128712" "00009868" "30" "-6931" "0" "-6931" "0" "c.-6931T>C" "r.(?)" "p.(=)" "00-2" "0000128713" "00009868" "70" "-7027" "0" "-7027" "0" "c.-7027T>C" "r.(?)" "p.(=)" "00-1i" "0000128714" "00009868" "70" "1126" "0" "1126" "0" "c.*583A>G" "r.(?)" "p.(=)" "5" "0000128715" "00009868" "70" "163" "-1420" "163" "-1420" "c.163-1420A>G" "r.(?)" "p.(=)" "2i" "0000128716" "00009868" "70" "163" "-285" "163" "-285" "c.163-285G>C" "r.(?)" "p.(=)" "2i" "0000128717" "00009868" "70" "-7691" "0" "-7691" "0" "c.-7691T>C" "r.(?)" "p.(=)" "00-1i" "0000128718" "00009868" "70" "-8060" "0" "-8060" "0" "c.-8060T>C" "r.(?)" "p.(=)" "00-1i" "0000128817" "00009868" "50" "-7027" "0" "-7027" "0" "c.-7027T>C" "r.(?)" "p.(=)" "00-1i" "0000128818" "00009868" "50" "-8690" "0" "-8690" "0" "c.-8690A>G" "r.(?)" "p.(=)" "_1" "0000128819" "00009868" "50" "-8695" "0" "-8695" "0" "c.-8695G>A" "r.(?)" "p.(=)" "_1" "0000128820" "00009868" "50" "557" "0" "557" "0" "c.*14A>G" "r.(?)" "p.(=)" "5" "0000128821" "00009868" "50" "402" "0" "402" "0" "c.402C>G" "r.(?)" "p.(=)" "4" "0000128822" "00009868" "50" "549" "0" "549" "0" "c.549C>A" "r.(?)" "p.(=)" "5" "0000128823" "00009868" "50" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "5" "0000128824" "00009868" "50" "708" "0" "708" "0" "c.708G>A" "r.(?)" "p.(Lys236Lys)" "5" "0000129090" "00009868" "90" "0" "0" "0" "0" "c.ins(?_-1)_(*1_?)" "r.?" "p.?" "_1_4_" "0000129092" "00009868" "90" "-8388608" "0" "8388607" "0" "c.?_?ins-752_*3870" "r.?" "p.?" "_1_4_" "0000129094" "00009868" "90" "-8388608" "0" "8388607" "0" "c.?_?ins-752_*3870" "r.?" "p.?" "_1_4_" "0000169147" "00009868" "70" "110" "0" "117" "0" "c.110_117delinsAGGTAA" "r.(?)" "p.(Leu37Glnfs*31)" "2" "0000188634" "00009868" "90" "78" "0" "78" "0" "c.78C>G" "r.(?)" "p.(Tyr26*)" "2" "0000188635" "00009868" "90" "158" "0" "159" "0" "c.158_159dup" "r.spl?" "p.(Arg54Alafs*7)" "3" "0000188636" "00009868" "90" "23" "0" "23" "0" "c.23C>A" "r.(?)" "p.(Ser8*)" "4" "0000188637" "00009868" "90" "23" "0" "23" "0" "c.23C>A" "r.(?)" "p.(Ser8*)" "2" "0000188638" "00009868" "90" "23" "0" "23" "0" "c.23C>A" "r.(?)" "p.(Ser8*)" "2" "0000188639" "00009868" "90" "23" "0" "23" "0" "c.23C>A" "r.(?)" "p.(Ser8*)" "2" "0000249153" "00009868" "10" "-22552" "0" "-22552" "0" "c.-22552T>C" "r.(?)" "p.(=)" "" "0000281549" "00009868" "10" "-21608" "0" "-21608" "0" "c.-21608A>C" "r.(?)" "p.(=)" "" "0000311834" "00009868" "30" "-27089" "0" "-27089" "0" "c.-27089G>A" "r.(?)" "p.(=)" "" "0000311835" "00009868" "50" "-27043" "0" "-27043" "0" "c.-27043C>G" "r.(?)" "p.(=)" "" "0000311836" "00009868" "30" "-26137" "0" "-26137" "0" "c.-26137C>T" "r.(?)" "p.(=)" "" "0000311837" "00009868" "30" "-26082" "0" "-26082" "0" "c.-26082G>A" "r.(?)" "p.(=)" "" "0000313314" "00009868" "30" "-27518" "0" "-27518" "0" "c.-27518C>T" "r.(?)" "p.(=)" "" "0000313315" "00009868" "30" "-27437" "0" "-27437" "0" "c.-27437C>T" "r.(?)" "p.(=)" "" "0000316582" "00009868" "50" "-27476" "0" "-27476" "0" "c.-27476C>G" "r.(?)" "p.(=)" "" "0000316583" "00009868" "30" "-27437" "0" "-27437" "0" "c.-27437C>T" "r.(?)" "p.(=)" "" "0000316584" "00009868" "50" "-27026" "0" "-27026" "0" "c.-27026G>T" "r.(?)" "p.(=)" "" "0000321914" "00009868" "50" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135Cys)" "" "0000321915" "00009868" "30" "-10949" "0" "-10949" "0" "c.-10949T>C" "r.(?)" "p.(=)" "" "0000321917" "00009868" "30" "-11017" "0" "-11017" "0" "c.-11017C>T" "r.(?)" "p.(=)" "" "0000321921" "00009868" "50" "-22655" "0" "-22655" "0" "c.-22655G>T" "r.(?)" "p.(=)" "" "0000321922" "00009868" "30" "-22687" "0" "-22687" "0" "c.-22687A>G" "r.(?)" "p.(=)" "" "0000321923" "00009868" "30" "-22714" "0" "-22714" "0" "c.-22714G>A" "r.(?)" "p.(=)" "" "0000321927" "00009868" "30" "-27066" "0" "-27066" "0" "c.-27066G>A" "r.(?)" "p.(=)" "" "0000321930" "00009868" "30" "-27153" "0" "-27153" "0" "c.-27153C>T" "r.(?)" "p.(=)" "" "0000321931" "00009868" "30" "-27437" "0" "-27437" "0" "c.-27437C>T" "r.(?)" "p.(=)" "" "0000321934" "00009868" "50" "-27791" "0" "-27791" "0" "c.-27791A>C" "r.(?)" "p.(=)" "" "0000339671" "00009868" "10" "-26122" "0" "-26122" "0" "c.-26122G>A" "r.(?)" "p.(=)" "" "0000474412" "00009868" "90" "97" "0" "97" "0" "c.97T>A" "r.(?)" "p.(Cys33Ser)" "2" "0000487190" "00009868" "90" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Cys70Tyr)" "3" "0000487191" "00009868" "90" "211" "0" "211" "0" "c.211T>C" "r.(?)" "p.(Cys71Arg)" "3" "0000487192" "00009868" "90" "134" "0" "134" "0" "c.134G>C" "r.(?)" "p.(Cys45Ser)" "2" "0000487193" "00009868" "90" "-6" "-1" "-6" "-1" "c.-6-1G>C" "r.-6_157del" "p.0?" "1i" "0000543445" "00009868" "30" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Arg156His)" "" "0000543446" "00009868" "30" "443" "0" "443" "0" "c.443C>A" "r.(?)" "p.(Ala148Glu)" "" "0000543447" "00009868" "30" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Ala143Thr)" "" "0000543448" "00009868" "50" "-1978" "0" "-1978" "0" "c.-1978C>T" "r.(?)" "p.(=)" "" "0000543449" "00009868" "30" "-2078" "0" "-2078" "0" "c.-2078G>A" "r.(?)" "p.(=)" "" "0000543450" "00009868" "50" "-10961" "0" "-10961" "0" "c.-10961C>T" "r.(?)" "p.(=)" "" "0000543451" "00009868" "30" "-10991" "0" "-10991" "0" "c.-10991G>A" "r.(?)" "p.(=)" "" "0000543452" "00009868" "30" "-11006" "0" "-11006" "0" "c.-11006C>T" "r.(?)" "p.(=)" "" "0000543453" "00009868" "30" "-11026" "0" "-11026" "0" "c.-11026T>C" "r.(?)" "p.(=)" "" "0000543455" "00009868" "90" "-22652" "0" "-22652" "0" "c.-22652C>G" "r.(?)" "p.(=)" "" "0000543456" "00009868" "30" "-22683" "0" "-22683" "0" "c.-22683G>A" "r.(?)" "p.(=)" "" "0000543457" "00009868" "70" "-22733" "0" "-22733" "0" "c.-22733G>A" "r.(?)" "p.(=)" "" "0000543458" "00009868" "30" "-22744" "0" "-22744" "0" "c.-22744C>T" "r.(?)" "p.(=)" "" "0000543462" "00009868" "50" "-26063" "0" "-26063" "0" "c.-26063del" "r.(?)" "p.(=)" "" "0000543463" "00009868" "50" "-26082" "0" "-26082" "0" "c.-26082G>A" "r.(?)" "p.(=)" "" "0000543464" "00009868" "30" "-26107" "0" "-26107" "0" "c.-26107C>T" "r.(?)" "p.(=)" "" "0000543466" "00009868" "70" "-26123" "0" "-26123" "0" "c.-26123C>T" "r.(?)" "p.(=)" "" "0000543467" "00009868" "50" "-27007" "0" "-27007" "0" "c.-27007G>C" "r.(?)" "p.(=)" "" "0000543468" "00009868" "50" "-27007" "0" "-27007" "0" "c.-27007G>C" "r.(?)" "p.(=)" "" "0000543469" "00009868" "50" "-27047" "0" "-27047" "0" "c.-27047G>A" "r.(?)" "p.(=)" "" "0000543470" "00009868" "50" "-27048" "0" "-27048" "0" "c.-27048C>G" "r.(?)" "p.(=)" "" "0000543472" "00009868" "30" "-27089" "0" "-27089" "0" "c.-27089G>A" "r.(?)" "p.(=)" "" "0000543473" "00009868" "30" "-27111" "0" "-27111" "0" "c.-27111C>T" "r.(?)" "p.(=)" "" "0000543474" "00009868" "30" "-27546" "0" "-27546" "0" "c.-27546C>G" "r.(?)" "p.(=)" "" "0000543475" "00009868" "30" "-27553" "0" "-27553" "0" "c.-27553G>C" "r.(?)" "p.(=)" "" "0000543476" "00009868" "10" "-27619" "0" "-27619" "0" "c.-27619A>G" "r.(?)" "p.(=)" "" "0000543477" "00009868" "50" "-27782" "0" "-27782" "0" "c.-27782A>T" "r.(?)" "p.(=)" "" "0000543478" "00009868" "50" "-27782" "0" "-27782" "0" "c.-27782A>T" "r.(?)" "p.(=)" "" "0000543479" "00009868" "50" "-27808" "0" "-27808" "0" "c.-27808C>T" "r.(?)" "p.(=)" "" "0000613240" "00009868" "70" "246" "0" "249" "0" "c.246_249dup" "r.(?)" "p.(Cys84ValfsTer35)" "" "0000613241" "00009868" "70" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Gly34Ser)" "" "0000613242" "00009868" "50" "-26103" "0" "-26103" "0" "c.-26103G>A" "r.(?)" "p.(=)" "" "0000613243" "00009868" "30" "-27815" "0" "-27815" "0" "c.-27815G>A" "r.(?)" "p.(=)" "" "0000679139" "00009868" "30" "-26075" "0" "-26075" "0" "c.-26075G>A" "r.(?)" "p.(=)" "" "0000679140" "00009868" "90" "-27505" "0" "-27505" "0" "c.-27505C>A" "r.(?)" "p.(=)" "" "0000723363" "00009868" "50" "158" "-1" "158" "-1" "c.158-1G>C" "r.spl?" "p.?" "" "0000723364" "00009868" "50" "-26136" "0" "-26136" "0" "c.-26136G>A" "r.(?)" "p.(=)" "" "0000723365" "00009868" "50" "-27823" "0" "-27823" "0" "c.-27823C>T" "r.(?)" "p.(=)" "" "0000785902" "00009868" "90" "2310" "0" "5730" "0" "c.*1767_*5187delinsA" "r.?" "p.?" "" "0000805062" "00009868" "90" "-27499" "0" "-27499" "0" "c.-27499G>A" "r.(?)" "p.(=)" "" "0000805063" "00009868" "90" "-27781" "0" "-27781" "0" "c.-27781C>T" "r.(?)" "p.(=)" "" "0000852854" "00009868" "30" "-26137" "0" "-26137" "0" "c.-26137C>T" "r.(?)" "p.(=)" "" "0000862471" "00009868" "50" "-1912" "0" "-1912" "0" "c.-1912G>T" "r.(?)" "p.(=)" "" "0000862472" "00009868" "30" "-2036" "0" "-2036" "0" "c.-2036C>G" "r.(?)" "p.(=)" "" "0000862473" "00009868" "30" "-21753" "0" "-21753" "0" "c.-21753G>A" "r.(?)" "p.(=)" "" "0000862474" "00009868" "30" "-21785" "0" "-21785" "0" "c.-21785G>A" "r.(?)" "p.(=)" "" "0000862475" "00009868" "10" "-21791" "0" "-21791" "0" "c.-21791C>T" "r.(?)" "p.(=)" "" "0000862476" "00009868" "50" "-22584" "0" "-22584" "0" "c.-22584C>T" "r.(?)" "p.(=)" "" "0000862477" "00009868" "70" "-22624" "0" "-22624" "0" "c.-22624del" "r.(?)" "p.(=)" "" "0000862478" "00009868" "70" "-22627" "0" "-22627" "0" "c.-22627del" "r.(?)" "p.(=)" "" "0000868867" "00009868" "90" "211" "0" "211" "0" "c.211T>C" "r.(?)" "p.(Cys71Arg)" "" "0000889756" "00009868" "50" "21" "0" "21" "0" "c.21G>T" "r.(?)" "p.(Lys7Asn)" "" "0000889757" "00009868" "50" "-9430" "0" "-9430" "0" "c.-9430G>A" "r.(?)" "p.(=)" "" "0000889758" "00009868" "30" "-21717" "0" "-21717" "0" "c.-21717G>A" "r.(?)" "p.(=)" "" "0000889759" "00009868" "50" "-21791" "0" "-21791" "0" "c.-21791C>A" "r.(?)" "p.(=)" "" "0000903261" "00009868" "50" "158" "-10" "158" "-10" "c.158-10G>A" "r.(?)" "p.(?)" "" "0000905094" "00009868" "70" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Leu80Pro)" "" "0000905838" "00009868" "90" "106" "0" "106" "0" "c.106G>T" "r.(?)" "p.(Glu36Ter)" "" "0000913551" "00009868" "50" "-21727" "0" "-21727" "0" "c.-21727C>T" "r.(?)" "p.(=)" "" "0000925366" "00009868" "30" "-9327" "0" "-9327" "0" "c.-9327C>T" "r.(?)" "p.(=)" "" "0000929837" "00009868" "30" "240" "0" "240" "0" "c.240G>A" "r.(?)" "p.(=)" "" "0000929838" "00009868" "30" "-9561" "0" "-9561" "0" "c.-9561T>C" "r.(?)" "p.(=)" "" "0000929839" "00009868" "30" "-11016" "0" "-11016" "0" "c.-11016G>A" "r.(?)" "p.(=)" "" "0000929840" "00009868" "70" "-21806" "0" "-21806" "0" "c.-21806G>A" "r.(?)" "p.(=)" "" "0000949640" "00009868" "30" "-9392" "0" "-9392" "0" "c.-9392T>C" "r.(?)" "p.(=)" "" "0000949641" "00009868" "10" "-26104" "0" "-26104" "0" "c.-26104C>T" "r.(?)" "p.(=)" "" "0000966296" "00009868" "30" "-9603" "0" "-9603" "0" "c.-9603C>G" "r.(?)" "p.(=)" "" "0000966297" "00009868" "30" "-10977" "0" "-10977" "0" "c.-10977G>C" "r.(?)" "p.(=)" "" "0000966299" "00009868" "10" "-22758" "0" "-22758" "0" "c.-22758C>T" "r.(?)" "p.(=)" "" "0000966301" "00009868" "50" "-26116" "0" "-26116" "0" "c.-26116G>T" "r.(?)" "p.(=)" "" "0000966302" "00009868" "50" "-26128" "0" "-26128" "0" "c.-26128C>T" "r.(?)" "p.(=)" "" "0000966303" "00009868" "30" "-27476" "0" "-27476" "0" "c.-27476C>T" "r.(?)" "p.(=)" "" "0000966304" "00009868" "30" "-27546" "0" "-27546" "0" "c.-27546C>T" "r.(?)" "p.(=)" "" "0000966305" "00009868" "70" "-27818" "0" "-27818" "0" "c.-27818C>A" "r.(?)" "p.(=)" "" "0000979513" "00009868" "50" "-26156" "0" "-26156" "0" "c.-26156G>A" "r.(?)" "p.(=)" "" "0000979514" "00009868" "50" "-26157" "0" "-26157" "0" "c.-26157C>T" "r.(?)" "p.(=)" "" "0000979515" "00009868" "30" "-26181" "0" "-26181" "0" "c.-26181C>G" "r.(?)" "p.(=)" "" "0000979516" "00009868" "30" "-27036" "0" "-27036" "0" "c.-27036C>T" "r.(?)" "p.(=)" "" "0000979517" "00009868" "30" "-27476" "0" "-27476" "0" "c.-27476C>G" "r.(?)" "p.(=)" "" "0000979518" "00009868" "90" "-27781" "0" "-27781" "0" "c.-27781C>T" "r.(?)" "p.(=)" "" "0000987923" "00009868" "50" "154" "0" "154" "0" "c.154T>C" "r.(?)" "p.(Phe52Leu)" "" "0000998949" "00009868" "30" "-2061" "0" "-2061" "0" "c.-2061A>C" "r.(?)" "p.(=)" "" "0000998950" "00009868" "30" "-10960" "0" "-10960" "0" "c.-10960G>A" "r.(?)" "p.(=)" "" "0000998951" "00009868" "90" "-21698" "0" "-21698" "0" "c.-21698C>T" "r.(?)" "p.(=)" "" "0001014778" "00009868" "50" "-1978" "0" "-1978" "0" "c.-1978C>T" "r.(?)" "p.(=)" "" "0001014779" "00009868" "30" "-11049" "0" "-11049" "0" "c.-11049G>A" "r.(?)" "p.(=)" "" "0001014780" "00009868" "30" "-26122" "0" "-26122" "0" "c.-26122G>A" "r.(?)" "p.(=)" "" "0001014781" "00009868" "50" "-27549" "0" "-27549" "0" "c.-27549C>T" "r.(?)" "p.(=)" "" "0001025955" "00009868" "30" "-10915" "0" "-10915" "0" "c.-10915A>C" "r.(?)" "p.(=)" "" "0001025956" "00009868" "30" "-10930" "0" "-10930" "0" "c.-10930G>A" "r.(?)" "p.(=)" "" "0001025957" "00009868" "30" "-22551" "0" "-22551" "0" "c.-22551G>A" "r.(?)" "p.(=)" "" "0001025958" "00009868" "90" "-22656" "0" "-22656" "0" "c.-22656G>A" "r.(?)" "p.(=)" "" "0001038396" "00009868" "50" "509" "0" "509" "0" "c.509dup" "r.(?)" "p.(Ala171Argfs*53)" "" "0001038397" "00009868" "50" "-9412" "0" "-9412" "0" "c.-9412G>A" "r.(?)" "p.(=)" "" "0001046304" "00009868" "30" "-9421" "0" "-9421" "0" "c.-9421G>C" "r.(?)" "p.(=)" "" "0001046305" "00009868" "70" "-22630" "0" "-22630" "0" "c.-22630C>G" "r.(?)" "p.(=)" "" "0001053766" "00009868" "30" "270" "0" "270" "0" "c.270C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{variantid}}" "0000079918" "0000128701" "0000079919" "0000128702" "0000079920" "0000128703" "0000079921" "0000128704" "0000079922" "0000128705" "0000079923" "0000128706" "0000079924" "0000128707" "0000079925" "0000128708" "0000079926" "0000128709" "0000079927" "0000128710" "0000079928" "0000128711" "0000079929" "0000128712" "0000079930" "0000128713" "0000079931" "0000128714" "0000079932" "0000128715" "0000079933" "0000128716" "0000079934" "0000128717" "0000079935" "0000128718" "0000080162" "0000129090" "0000080163" "0000129092" "0000080164" "0000129094" "0000104422" "0000169147" "0000117667" "0000188634" "0000117668" "0000188635" "0000117669" "0000188636" "0000117670" "0000188637" "0000117671" "0000188638" "0000117672" "0000188639" "0000232097" "0000474412" "0000241321" "0000487190" "0000241322" "0000487191" "0000241323" "0000487192" "0000241324" "0000487193" "0000374962" "0000785902" "0000453323" "0000987923"