### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IGF1) # 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}}" "IGF1" "insulin-like growth factor 1 (somatomedin C)" "12" "q23.2" "unknown" "NC_000012.11" "UD_129189831055" "" "http://www.LOVD.nl/IGF1" "Growth Genetics Consortium " "1" "5464" "3479" "147440" "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/IGF1_codingDNA.html" "1" "" "A Growth Genetics Consortium gene variant database\r\n
\r\n
\r\n" "-1" "" "-1" "00001" "2008-06-01 00:00:00" "00006" "2017-03-10 17:22:45" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00009866" "IGF1" "transcript variant 4" "001" "NM_000618.3" "" "NP_000609.1" "" "" "" "-219" "7102" "462" "102874378" "102789645" "" "0000-00-00 00:00:00" "" "" "00024241" "IGF1" "transcript variant 1" "002" "NM_001111283.1" "" "NP_001104753.1" "" "" "" "-219" "7151" "477" "102874378" "102789645" "00006" "2017-03-10 13:49:28" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00277" "DWFP" "dwarfism, primordial (DWFP)" "" "" "" "" "" "00006" "2013-11-22 16:21:08" "00006" "2015-12-07 07:11:25" "00808" "-" "Growth retardation with deafness and mental retardation due to IGF1 deficiency" "AR" "608747" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "IGF1" "00139" "IGF1" "00808" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00004053" "" "" "" "2" "" "00549" "{PMID:Shaheen 2014:24389050}, {DOI:Shaheen 2014:10.1101/gr.160572.113}" "4-generation family, 2 affecteds, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00079747" "" "" "" "1" "" "01716" "{PMID:Woods 1996:8857020}, {DOI:Woods 1996:10.1056/NEJM199610313351805}, Woods 2000" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "08857020" "00079748" "" "" "" "1" "" "01716" "{PMID:Bonapace 2003:14684690}, Concolino 2009" "2-generation family, 1 affected, unaffected heterozygous carrier parent" "M" "" "Italy" "" "0" "" "" "Italy" "14684690-Pat" "00079749" "" "" "" "11" "" "01716" "{PMID:Walenkamp 2005:15769976}, {DOI:Walenkamp 2005:10.1210/jc.2004-1254}" "6-generation family, affected brothers, 9 heterozygous carrier parents/relatives\r\n{FILE15769976fam.ppt:pedigree}, {FILE15769976patRV.jpg:the patient}, {FILE15769976tab.jpg:protein levels}" "M" "yes" "Netherlands" "" "0" "" "" "Netherlands" "15769976-FamPatIV8" "00079750" "" "" "" "1" "" "01716" "" "" "" "" "" "" "0" "" "" "" "" "00079751" "" "" "00079749" "1" "" "01716" "{PMID:Walenkamp 2005:15769976}, {DOI:Walenkamp 2005:10.1210/jc.2004-1254}" "" "M" "yes" "Netherlands" "" "0" "" "" "" "15769976-FamPatIV13" "00079752" "" "" "" "4" "" "01716" "{PMID:van Duyvenvoorde 2010:20668042}, {DOI:van Duyvenvoorde 2010:10.1210/jc.2010-0511}" "3-generation family, 2 children, mother and maternal grandfather heterozygous carriers" "F;M" "no" "Netherlands" "" "0" "" "" "" "20668042-Fam" "00100793" "" "" "00079749" "9" "" "00006" "{PMID:Walenkamp 2005:15769976}, {DOI:Walenkamp 2005:10.1210/jc.2004-1254}" "9 heterozygous carriers" "F;M" "yes" "Netherlands" "" "0" "" "" "" "15769976-FamCar" "00100794" "" "" "" "5" "" "00006" "{PMID:Fuqua 2012:22832530}, {DOI:Fuqua 2012:10.1159/000337249}" "5-generation family, 5 affecteds (2F, 3M)" "F;M" "no" "United States" "" "0" "" "" "" "22832530-Fam" "00100795" "" "" "" "1" "" "00006" "{PMID:Baley 2014:24243634}, {DOI:Baley 2014:10.1210/jc.2013-3106}" "2-generation family, 1 affected, father not available" "M" "no" "United States" "" "0" "" "" "Irish" "24243634-" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00004053" "00277" "00079747" "00808" "00079748" "00808" "00079749" "00808" "00079750" "00198" "00079751" "00808" "00079752" "04184" "00100793" "00198" "00100794" "04184" "00100795" "04184" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00277, 00808, 04184 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Growth/Height_SDS}}" "{{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}}" "0000059458" "00808" "00079747" "01716" "Familial, autosomal recessive" "" "severe pre- and postnatal growth failure, sensorineural deafness, mental retardation; insulin-like growth factor I deficiency; mild myopia; behavioral difficulties, hyperactivity, short attention span; no skeletal abnormalities; micrognathia, bilateral ptosis,; low hearline, bilateral clinodactyly, single palmar crease," "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059459" "00808" "00079748" "01716" "Unknown" "" "intrauterine and postnatal growth failure, sensorineural deafness, mental retardation; insulin-like growth factor I deficiency; no skeletal abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059460" "00808" "00079749" "01716" "Unknown" "" "severe intrauterine growth retardation, deafness, mental retardation, osteoporosis, partial gonadal dysfunction, relatively well-preserved cardiac function; insulin-like growth factor I deficiency; neurology normal; right radial fracture after minor trauma; no skeletal abnormalities; deep-set eyes, flat occiput, micrognathia; broad end phalanges, convex nails, hypermobility interphalangeal joints, restricted mobility elbows" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079008" "00808" "00079751" "01716" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079009" "00198" "00100793" "00006" "Familial, autosomal dominant" "" "reduced birth weight and head circumference, lower height SDS, testicular volume males normal; fasting insulin levels significantly higher, higher total IGF-I levels, lower IGF-I bioactivity; BMD at the femoral neck and lumbar spine in normal range" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079010" "00277" "00004053" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079011" "04184" "00079752" "00006" "Familial, autosomal dominant" "" "see paper; 2 index cases had severe short stature (height SD score -4.1 and-4.6), microcephaly, low IGF-I levels; adult height and head circumference SD score carriers was -2.5 and -1.8 (-1.6 and 0.3 in non-carriers)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079012" "04184" "00100794" "00006" "Familial, autosomal dominant" "" "see paper; index case postnatal growth retardation (-4.0 height SDS), serum IGF-I concentration low (115 µg/l, -2.21 SDS) and increased minimally to 130 µg/l (-1.82 SDS) on GH therapy; severe short stature could be traced back several generations, ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079013" "04184" "00100795" "00006" "Familial, autosomal dominant" "" "see paper; idiopathic short stature, ..." "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000003975" "00004053" "1" "00549" "00549" "2013-11-21 21:23:30" "" "" "SEQ-NG" "DNA" "" "" "0000079821" "00079747" "1" "01716" "01716" "2008-09-19 15:45:50" "00003" "2009-08-07 16:09:22" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000079822" "00079748" "1" "01716" "01716" "2008-09-19 15:45:50" "00003" "2009-08-07 17:39:29" "SSCA;RT-PCR;SEQ" "RNA;DNA" "" "" "0000079823" "00079749" "1" "01716" "01716" "2008-09-19 15:45:50" "00002" "2009-09-06 10:27:35" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000079824" "00079750" "1" "01716" "01716" "2008-09-19 15:45:50" "" "" "SEQ" "DNA" "" "" "0000079825" "00079751" "1" "01716" "01716" "2008-09-19 15:45:50" "" "" "SEQ" "DNA" "" "" "0000079826" "00079752" "1" "01716" "01716" "2008-09-19 15:45:50" "" "" "SEQ" "DNA" "" "" "0000101215" "00100793" "1" "00006" "00006" "2017-03-10 15:04:51" "" "" "SEQ" "DNA" "" "" "0000101216" "00100794" "1" "00006" "00006" "2017-03-10 16:24:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000101217" "00100795" "1" "00006" "00006" "2017-03-10 16:37:46" "" "" "arraySNP" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000003975" "IGF1" "0000079821" "IGF1" "0000079822" "IGF1" "0000079823" "IGF1" "0000079824" "IGF1" "0000079825" "IGF1" "0000079826" "IGF1" "0000101215" "IGF1" "0000101216" "IGF1" "0000101217" "IGF1" ## 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 = 49 "{{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}}" "0000022850" "3" "95" "12" "102813397" "102813397" "subst" "0" "00549" "IGF1_000010" "g.102813397G>A" "" "{PMID:Shaheen 2014:24389050}, {DOI:Shaheen 2014:10.1101/gr.160572.113}" "" "" "" "Germline" "" "" "0" "" "" "g.102419619G>A" "" "pathogenic" "" "0000128604" "3" "90" "12" "102811732" "102813469" "" "0" "01716" "IGF1_000001" "g.(102796345_102811732)_(102813469_102869420)del" "" "{PMID:Woods 1996:0857020}, {OMIM147440:0001}" "" "del ex04 and 05" "NM_001111283.1:c.(220+1_221-1)_(451+1_452-1)del" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000128605" "3" "90" "12" "102796022" "102796022" "subst" "0" "01716" "IGF1_000002" "g.102796022A>T" "" "{PMID:Bonapace 2003:14684690}, {OMIM147440:0002}" "" "" "mRNA poly-A addition affected, altered splicing; variant was found in various healthy controls in a Brasilian cohort" "Germline" "yes" "" "0" "" "" "g.102402244A>T" "" "pathogenic" "" "0000128606" "3" "90" "12" "102813415" "102813415" "subst" "0" "01716" "IGF1_000003" "g.102813415C>T" "" "{PMID:Walenkamp 2005:15769976}, {OMIM147440:0003}" "" "" "variant not in 174 control chromosomes" "Germline" "yes" "rs121912430" "0" "" "" "g.102419637C>T" "" "pathogenic" "" "0000128607" "1" "50" "12" "102813438" "102813438" "subst" "0" "01716" "IGF1_000004" "g.102813438C>T" "" "" "" "R36Q" "" "Germline" "yes" "" "0" "" "" "g.102419660C>T" "" "VUS" "" "0000128608" "3" "90" "12" "102813415" "102813415" "subst" "0" "01716" "IGF1_000003" "g.102813415C>T" "" "{PMID:Walenkamp 2005:15769976}, {DOI:Walenkamp 2005:10.1210/jc.2004-1254}" "" "V44M" "" "Germline" "yes" "rs121912430" "0" "" "" "g.102419637C>T" "" "pathogenic" "" "0000128609" "1" "90" "12" "102813444" "102813447" "dup" "0" "01716" "IGF1_000005" "g.102813444_102813447dup" "" "{PMID:van Duyvenvoorde 2010:20668042}, {DOI:van Duyvenvoorde 2010:10.1210/jc.2010-0511}" "" "243_246dupCAGC" "" "Germline" "yes" "" "0" "" "" "g.102419666_102419669dup" "" "pathogenic" "" "0000163730" "1" "90" "12" "102813415" "102813415" "subst" "0" "00006" "IGF1_000003" "g.102813415C>T" "" "{PMID:Walenkamp 2005:15769976}, {DOI:Walenkamp 2005:10.1210/jc.2004-1254}" "" "V44M" "" "Germline" "yes" "rs121912430" "0" "" "" "g.102419637C>T" "" "pathogenic" "" "0000163731" "0" "90" "12" "102813415" "102813415" "subst" "0" "00006" "IGF1_000003" "g.102813415C>T" "" "" "" "V44M" "cDNA expression cloning showed 90x reduced affinity for IGF1R" "In vitro (cloned)" "-" "" "0" "" "" "g.102419637C>T" "" "NA" "" "0000163732" "21" "30" "12" "102869434" "102869434" "subst" "0.00145525" "00006" "IGF1_000011" "g.102869434C>T" "" "{PMID:Fuqua 2012:22832530}, {DOI:Fuqua 2012:10.1159/000337249}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102475656C>T" "" "likely benign" "" "0000163733" "21" "90" "12" "102813286" "102813286" "subst" "0" "00006" "IGF1_000012" "g.102813286C>A" "" "{PMID:Fuqua 2012:22832530}, {DOI:Fuqua 2012:10.1159/000337249}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102419508C>A" "" "pathogenic" "" "0000163734" "11" "90" "12" "102613657" "102875825" "" "0" "00006" "IGF1_000013" "g.(102200000_102613657)_(102875825_102900000)del" "" "{PMID:Baley 2014:24243634}, {DOI:Baley 2014:10.1210/jc.2013-3106}" "" "chr12:g.102613657–102875825del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000281493" "0" "50" "12" "102813333" "102813333" "subst" "4.0706E-5" "02325" "IGF1_000014" "g.102813333C>T" "" "" "" "IGF1(NM_000618.3):c.356G>A (p.(Arg119His)), IGF1(NM_001111283.3):c.356G>A (p.R119H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102419555C>T" "" "VUS" "" "0000289483" "0" "90" "12" "102813404" "102813404" "subst" "0" "01943" "IGF1_000015" "g.102813404G>T" "" "" "" "IGF1(NM_001111283.2):c.285C>A (p.C95*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102419626G>T" "" "pathogenic" "" "0000341132" "0" "50" "12" "102813337" "102813337" "subst" "0.000671534" "02327" "IGF1_000016" "g.102813337C>T" "" "" "" "IGF1(NM_000618.3):c.352G>A (p.(Ala118Thr)), IGF1(NM_000618.5):c.352G>A (p.A118T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102419559C>T" "" "VUS" "" "0000546223" "0" "30" "12" "102796353" "102796353" "subst" "4.06745E-6" "01804" "IGF1_000017" "g.102796353A>G" "" "" "" "IGF1(NM_000618.3):c.403-9T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102402575A>G" "" "likely benign" "" "0000546225" "0" "30" "12" "102811624" "102811624" "subst" "0.00202337" "01804" "IGF1_000018" "g.102811624G>T" "" "" "" "IGF1(NM_001111285.1):c.560C>A (p.(Ala187Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102417846G>T" "" "likely benign" "" "0000546226" "0" "30" "12" "102813337" "102813337" "subst" "0.000671534" "01804" "IGF1_000016" "g.102813337C>T" "" "" "" "IGF1(NM_000618.3):c.352G>A (p.(Ala118Thr)), IGF1(NM_000618.5):c.352G>A (p.A118T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102419559C>T" "" "likely benign" "" "0000546227" "0" "30" "12" "102813349" "102813349" "subst" "5.69624E-5" "01804" "IGF1_000019" "g.102813349G>C" "" "" "" "IGF1(NM_000618.3):c.340C>G (p.(Pro114Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102419571G>C" "" "likely benign" "" "0000546228" "0" "50" "12" "102813389" "102813389" "subst" "0" "02329" "IGF1_000020" "g.102813389A>C" "" "" "" "IGF1(NM_001111283.2):c.300T>G (p.C100W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102419611A>C" "" "VUS" "" "0000546229" "0" "30" "12" "102813404" "102813404" "subst" "0.000639417" "01804" "IGF1_000021" "g.102813404G>A" "" "" "" "IGF1(NM_000618.3):c.285C>T (p.(Cys95=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102419626G>A" "" "likely benign" "" "0000546230" "0" "30" "12" "102869434" "102869434" "subst" "0.00145525" "01804" "IGF1_000011" "g.102869434C>T" "" "" "" "IGF1(NM_000618.3):c.207G>A (p.(Arg69=)), IGF1(NM_001111283.3):c.207G>A (p.R69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102475656C>T" "" "likely benign" "" "0000546231" "0" "10" "12" "102869600" "102869600" "subst" "0.024901" "01943" "IGF1_000022" "g.102869600G>T" "" "" "" "IGF1(NM_000618.4):c.64-23C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102475822G>T" "" "benign" "" "0000546232" "0" "30" "12" "102874115" "102874115" "subst" "0.000268749" "01804" "IGF1_000023" "g.102874115G>C" "" "" "" "IGF1(NM_000618.3):c.45C>G (p.(Cys15Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102480337G>C" "" "likely benign" "" "0000613804" "0" "30" "12" "102813333" "102813333" "subst" "4.0706E-5" "01804" "IGF1_000014" "g.102813333C>T" "" "" "" "IGF1(NM_000618.3):c.356G>A (p.(Arg119His)), IGF1(NM_001111283.3):c.356G>A (p.R119H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102419555C>T" "" "likely benign" "" "0000723792" "0" "90" "12" "102811782" "102811782" "subst" "4.22686E-6" "01943" "IGF1_000024" "g.102811782C>G" "" "" "" "IGF1(NM_001111283.2):c.403-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000862763" "0" "30" "12" "102796022" "102796022" "subst" "0" "02326" "IGF1_000002" "g.102796022A>T" "" "" "" "IGF1(NM_001111283.3):c.*297T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862764" "0" "30" "12" "102796363" "102796363" "subst" "4.06808E-6" "01804" "IGF1_000025" "g.102796363A>G" "" "" "" "IGF1(NM_000618.3):c.403-19T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862765" "0" "30" "12" "102811720" "102811721" "del" "0" "01804" "IGF1_000026" "g.102811720_102811721del" "" "" "" "IGF1(NM_000618.3):c.402+1569_402+1570del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862766" "0" "30" "12" "102811752" "102811752" "subst" "0.000421134" "01804" "IGF1_000027" "g.102811752C>T" "" "" "" "IGF1(NM_000618.3):c.402+1535G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862767" "0" "30" "12" "102811753" "102811753" "subst" "0.000122717" "01804" "IGF1_000028" "g.102811753G>A" "" "" "" "IGF1(NM_001111283.1):c.431C>T (p.(Thr144Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862768" "0" "50" "12" "102813324" "102813324" "subst" "3.6636E-5" "01804" "IGF1_000029" "g.102813324C>T" "" "" "" "IGF1(NM_000618.3):c.365G>A (p.(Arg122His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862769" "0" "30" "12" "102813346" "102813346" "subst" "0.00107446" "01804" "IGF1_000030" "g.102813346C>T" "" "" "" "IGF1(NM_000618.3):c.343G>A (p.(Ala115Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862770" "0" "70" "12" "102813363" "102813363" "del" "0" "01804" "IGF1_000031" "g.102813363del" "" "" "" "IGF1(NM_000618.3):c.326del (p.(Cys109SerfsTer30))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862771" "0" "30" "12" "102869410" "102869410" "subst" "0" "01804" "IGF1_000032" "g.102869410G>C" "" "" "" "IGF1(NM_000618.3):c.220+11C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862772" "0" "30" "12" "102869434" "102869434" "subst" "0.00145525" "02326" "IGF1_000011" "g.102869434C>T" "" "" "" "IGF1(NM_000618.3):c.207G>A (p.(Arg69=)), IGF1(NM_001111283.3):c.207G>A (p.R69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862773" "0" "50" "12" "102869435" "102869435" "subst" "0" "02327" "IGF1_000033" "g.102869435C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862774" "0" "30" "12" "102869500" "102869500" "subst" "1.21924E-5" "01804" "IGF1_000034" "g.102869500C>T" "" "" "" "IGF1(NM_000618.3):c.141G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890229" "0" "30" "12" "102813392" "102813392" "subst" "3.66399E-5" "01804" "IGF1_000035" "g.102813392G>A" "" "" "" "IGF1(NM_000618.3):c.297C>T (p.(Ser99=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890230" "0" "30" "12" "102869485" "102869485" "subst" "0.000516248" "01804" "IGF1_000036" "g.102869485C>T" "" "" "" "IGF1(NM_000618.3):c.156G>A (p.(Thr52=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000905190" "0" "50" "12" "102813396" "102813396" "subst" "8.14418E-6" "03779" "IGF1_000037" "g.102813396C>T" "" "" "" "" "" "Unknown" "" "rs1316717107" "0" "" "" "" "" "VUS" "" "0000905191" "0" "50" "12" "102813396" "102813396" "subst" "8.14418E-6" "03779" "IGF1_000037" "g.102813396C>T" "" "" "" "" "" "Unknown" "" "rs1316717107" "0" "" "" "" "" "VUS" "" "0000913731" "0" "50" "12" "102813337" "102813337" "subst" "0.000671534" "02325" "IGF1_000016" "g.102813337C>T" "" "" "" "IGF1(NM_000618.3):c.352G>A (p.(Ala118Thr)), IGF1(NM_000618.5):c.352G>A (p.A118T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913732" "0" "90" "12" "102813438" "102813438" "subst" "0" "01804" "IGF1_000004" "g.102813438C>T" "" "" "" "IGF1(NM_000618.3):c.251G>A (p.(Arg84Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949823" "0" "30" "12" "102869491" "102869491" "subst" "7.3166E-5" "01804" "IGF1_000038" "g.102869491C>T" "" "" "" "IGF1(NM_000618.3):c.150G>A (p.(Pro50=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979965" "0" "30" "12" "102811688" "102811688" "subst" "1.22051E-5" "01804" "IGF1_000039" "g.102811688C>T" "" "" "" "IGF1(NM_000618.3):c.402+1599G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979966" "0" "30" "12" "102874085" "102874085" "subst" "4.0824E-6" "01804" "IGF1_000040" "g.102874085A>G" "" "" "" "IGF1(NM_000618.3):c.63+12T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038882" "0" "50" "12" "102869560" "102869560" "subst" "2.45252E-5" "01804" "IGF1_000041" "g.102869560C>T" "" "" "" "IGF1(NM_000618.3):c.81G>A (p.(Met27Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046338" "0" "50" "12" "102796352" "102796355" "del" "0" "01804" "IGF1_000042" "g.102796352_102796355del" "" "" "" "IGF1(NM_000618.3):c.403-6_403-3del (p.?)" "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 IGF1 ## Count = 89 "{{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}}" "0000022850" "00009866" "95" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "4" "0000128604" "00009866" "90" "221" "-1" "402" "1" "c.(220+1_221-1)_(402+1_403-1)del" "r.221_402del" "p.Asn74Argfs*9" "3i_5i" "0000128605" "00009866" "90" "725" "0" "725" "0" "c.*263T>A" "r.423_*6640delins[chr17:g.137559893_137560131]" "p.Ser142fs" "6" "0000128606" "00009866" "90" "274" "0" "274" "0" "c.274G>A" "r.274a>g" "p.Val92Met" "4" "0000128607" "00009866" "50" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84Gln)" "4" "0000128608" "00009866" "90" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Met)" "4" "0000128609" "00009866" "90" "243" "0" "246" "0" "c.243_246dup" "r.(?)" "p.(Ser83Glnfs*13)" "4" "0000163730" "00009866" "90" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Met)" "4" "0000163730" "00024241" "90" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Met)" "4" "0000163731" "00009866" "90" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.Val92Met" "4" "0000163731" "00024241" "00" "0" "0" "0" "0" "c.?" "" "-" "" "0000163732" "00009866" "30" "207" "0" "207" "0" "c.207G>A" "r.207g>a" "p.Arg69=" "3" "0000163732" "00024241" "30" "207" "0" "207" "0" "c.207G>A" "r.207g>a" "p.Arg69=" "3" "0000163733" "00009866" "90" "402" "1" "402" "1" "c.402+1G>T" "" "p.Asn74Argfs*9" "4i" "0000163733" "00024241" "90" "402" "1" "402" "1" "c.402+1G>T" "r.spl?" "p.?" "4i" "0000163734" "00009866" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_6_" "0000163734" "00024241" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_6_" "0000281493" "00009866" "50" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119His)" "" "0000281493" "00024241" "50" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119His)" "" "0000289483" "00009866" "90" "285" "0" "285" "0" "c.285C>A" "r.(?)" "p.(Cys95Ter)" "" "0000289483" "00024241" "90" "285" "0" "285" "0" "c.285C>A" "r.(?)" "p.(Cys95Ter)" "" "0000341132" "00009866" "50" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "" "0000341132" "00024241" "50" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "" "0000546223" "00009866" "30" "403" "-9" "403" "-9" "c.403-9T>C" "r.(=)" "p.(=)" "" "0000546223" "00024241" "30" "452" "-9" "452" "-9" "c.452-9T>C" "r.(=)" "p.(=)" "" "0000546225" "00009866" "30" "402" "1663" "402" "1663" "c.402+1663C>A" "r.(=)" "p.(=)" "" "0000546225" "00024241" "30" "451" "109" "451" "109" "c.451+109C>A" "r.(=)" "p.(=)" "" "0000546226" "00009866" "30" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "" "0000546226" "00024241" "30" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "" "0000546227" "00009866" "30" "340" "0" "340" "0" "c.340C>G" "r.(?)" "p.(Pro114Ala)" "" "0000546227" "00024241" "30" "340" "0" "340" "0" "c.340C>G" "r.(?)" "p.(Pro114Ala)" "" "0000546228" "00009866" "50" "300" "0" "300" "0" "c.300T>G" "r.(?)" "p.(Cys100Trp)" "" "0000546228" "00024241" "50" "300" "0" "300" "0" "c.300T>G" "r.(?)" "p.(Cys100Trp)" "" "0000546229" "00009866" "30" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(Cys95=)" "" "0000546229" "00024241" "30" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(Cys95=)" "" "0000546230" "00009866" "30" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(Arg69=)" "" "0000546230" "00024241" "30" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(Arg69=)" "" "0000546231" "00009866" "10" "64" "-23" "64" "-23" "c.64-23C>A" "r.(=)" "p.(=)" "" "0000546231" "00024241" "10" "64" "-23" "64" "-23" "c.64-23C>A" "r.(=)" "p.(=)" "" "0000546232" "00009866" "30" "45" "0" "45" "0" "c.45C>G" "r.(?)" "p.(Cys15Trp)" "" "0000546232" "00024241" "30" "45" "0" "45" "0" "c.45C>G" "r.(?)" "p.(Cys15Trp)" "" "0000613804" "00009866" "30" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119His)" "" "0000613804" "00024241" "30" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119His)" "" "0000723792" "00009866" "90" "402" "1505" "402" "1505" "c.402+1505G>C" "r.(=)" "p.(=)" "" "0000723792" "00024241" "90" "403" "-1" "403" "-1" "c.403-1G>C" "r.spl?" "p.?" "" "0000862763" "00009866" "30" "725" "0" "725" "0" "c.*263T>A" "r.(=)" "p.(=)" "" "0000862763" "00024241" "30" "774" "0" "774" "0" "c.*297T>A" "r.(=)" "p.(=)" "" "0000862764" "00009866" "30" "403" "-19" "403" "-19" "c.403-19T>C" "r.(=)" "p.(=)" "" "0000862764" "00024241" "30" "452" "-19" "452" "-19" "c.452-19T>C" "r.(=)" "p.(=)" "" "0000862765" "00009866" "30" "402" "1569" "402" "1570" "c.402+1569_402+1570del" "r.(=)" "p.(=)" "" "0000862765" "00024241" "30" "451" "15" "451" "16" "c.451+15_451+16del" "r.(=)" "p.(=)" "" "0000862766" "00009866" "30" "402" "1535" "402" "1535" "c.402+1535G>A" "r.(=)" "p.(=)" "" "0000862766" "00024241" "30" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(Thr144=)" "" "0000862767" "00009866" "30" "402" "1534" "402" "1534" "c.402+1534C>T" "r.(=)" "p.(=)" "" "0000862767" "00024241" "30" "431" "0" "431" "0" "c.431C>T" "r.(?)" "p.(Thr144Met)" "" "0000862768" "00009866" "50" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "" "0000862768" "00024241" "50" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "" "0000862769" "00009866" "30" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Ala115Thr)" "" "0000862769" "00024241" "30" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Ala115Thr)" "" "0000862770" "00009866" "70" "326" "0" "326" "0" "c.326del" "r.(?)" "p.(Cys109Serfs*30)" "" "0000862770" "00024241" "70" "326" "0" "326" "0" "c.326del" "r.(?)" "p.(Cys109Serfs*62)" "" "0000862771" "00009866" "30" "220" "11" "220" "11" "c.220+11C>G" "r.(=)" "p.(=)" "" "0000862771" "00024241" "30" "220" "11" "220" "11" "c.220+11C>G" "r.(=)" "p.(=)" "" "0000862772" "00009866" "30" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(Arg69=)" "" "0000862772" "00024241" "30" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(Arg69=)" "" "0000862773" "00009866" "50" "206" "0" "206" "0" "c.206G>T" "r.(?)" "p.(Arg69Met)" "" "0000862773" "00024241" "50" "206" "0" "206" "0" "c.206G>T" "r.(?)" "p.(Arg69Met)" "" "0000862774" "00009866" "30" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Thr47=)" "" "0000862774" "00024241" "30" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Thr47=)" "" "0000890229" "00009866" "30" "297" "0" "297" "0" "c.297C>T" "r.(?)" "p.(Ser99=)" "" "0000890229" "00024241" "30" "297" "0" "297" "0" "c.297C>T" "r.(?)" "p.(Ser99=)" "" "0000890230" "00009866" "30" "156" "0" "156" "0" "c.156G>A" "r.(?)" "p.(Thr52=)" "" "0000890230" "00024241" "30" "156" "0" "156" "0" "c.156G>A" "r.(?)" "p.(Thr52=)" "" "0000905190" "00009866" "50" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Arg98Gln)" "" "0000905191" "00009866" "50" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Arg98Gln)" "" "0000913731" "00009866" "50" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "" "0000913731" "00024241" "50" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "" "0000913732" "00009866" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84Gln)" "" "0000913732" "00024241" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84Gln)" "" "0000949823" "00009866" "30" "150" "0" "150" "0" "c.150G>A" "r.(?)" "p.(=)" "" "0000949823" "00024241" "30" "150" "0" "150" "0" "c.150G>A" "r.(?)" "p.(=)" "" "0000979965" "00009866" "30" "402" "1599" "402" "1599" "c.402+1599G>A" "r.(=)" "p.(=)" "" "0000979965" "00024241" "30" "451" "45" "451" "45" "c.451+45G>A" "r.(=)" "p.(=)" "" "0000979966" "00009866" "30" "63" "12" "63" "12" "c.63+12T>C" "r.(=)" "p.(=)" "" "0000979966" "00024241" "30" "63" "12" "63" "12" "c.63+12T>C" "r.(=)" "p.(=)" "" "0001038882" "00009866" "50" "81" "0" "81" "0" "c.81G>A" "r.(?)" "p.(Met27Ile)" "" "0001038882" "00024241" "50" "81" "0" "81" "0" "c.81G>A" "r.(?)" "p.(Met27Ile)" "" "0001046338" "00009866" "50" "403" "-6" "403" "-3" "c.403-6_403-3del" "r.spl?" "p.?" "" "0001046338" "00024241" "50" "452" "-6" "452" "-3" "c.452-6_452-3del" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000003975" "0000022850" "0000079821" "0000128604" "0000079822" "0000128605" "0000079823" "0000128606" "0000079824" "0000128607" "0000079825" "0000128608" "0000079826" "0000128609" "0000101215" "0000163730" "0000101216" "0000163732" "0000101216" "0000163733" "0000101217" "0000163734"