### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IGF2R) # 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}}" "IGF2R" "insulin-like growth factor 2 receptor" "6" "q25-q27" "paternal" "LRG_1036" "UD_132118279113" "" "https://www.LOVD.nl/IGF2R" "" "1" "5467" "3482" "147280" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-07-01 09:11:37" "00000" "2025-05-05 21:14:00" ## 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}}" "00009872" "IGF2R" "insulin-like growth factor 2 receptor" "001" "NM_000876.2" "" "NP_000867.2" "" "" "" "-148" "8943" "7476" "160390131" "160527583" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01221" "cancer, liver" "cancer, hepatocellular (HCC)" "" "114550" "liver" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IGF2R" "01221" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01221 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 22 "{{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}}" "0000289509" "0" "30" "6" "160445693" "160445693" "subst" "0.00718758" "01943" "IGF2R_000001" "g.160445693C>T" "" "" "" "IGF2R(NM_000876.3):c.603C>T (p.S201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160024661C>T" "" "likely benign" "" "0000289510" "0" "30" "6" "160517613" "160517613" "subst" "4.06256E-6" "01943" "IGF2R_000003" "g.160517613C>T" "" "" "" "IGF2R(NM_000876.3):c.6798C>T (p.C2266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160096581C>T" "" "likely benign" "" "0000289511" "0" "30" "6" "160450589" "160450589" "subst" "0.000182803" "01943" "IGF2R_000002" "g.160450589C>T" "" "" "" "IGF2R(NM_000876.3):c.784C>T (p.L262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160029557C>T" "" "likely benign" "" "0000527808" "0" "50" "6" "160431812" "160431812" "subst" "0" "01943" "IGF2R_000004" "g.160431812A>G" "" "" "" "IGF2R(NM_000876.3):c.508A>G (p.K170E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160010780A>G" "" "VUS" "" "0000527809" "0" "10" "6" "160445698" "160445698" "subst" "0.00110047" "01943" "IGF2R_000005" "g.160445698C>T" "" "" "" "IGF2R(NM_000876.3):c.608C>T (p.P203L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160024666C>T" "" "benign" "" "0000527810" "0" "50" "6" "160455520" "160455520" "subst" "0.000588928" "01943" "IGF2R_000006" "g.160455520G>C" "" "" "" "IGF2R(NM_000876.3):c.1281G>C (p.M427I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160034488G>C" "" "VUS" "" "0000527811" "0" "50" "6" "160481602" "160481602" "subst" "4.06134E-6" "01943" "IGF2R_000007" "g.160481602C>T" "" "" "" "IGF2R(NM_000876.3):c.3115C>T (p.R1039C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160060570C>T" "" "VUS" "" "0000527812" "0" "30" "6" "160484530" "160484530" "subst" "0.000117764" "01943" "IGF2R_000008" "g.160484530G>A" "" "" "" "IGF2R(NM_000876.3):c.3754G>A (p.A1252T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160063498G>A" "" "likely benign" "" "0000527813" "0" "30" "6" "160485490" "160485490" "subst" "0.00105585" "01943" "IGF2R_000009" "g.160485490G>A" "" "" "" "IGF2R(NM_000876.3):c.3944G>A (p.G1315E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160064458G>A" "" "likely benign" "" "0000527814" "0" "30" "6" "160485912" "160485912" "subst" "0.000190874" "01943" "IGF2R_000010" "g.160485912A>G" "" "" "" "IGF2R(NM_000876.3):c.4094A>G (p.D1365G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160064880A>G" "" "likely benign" "" "0000527815" "0" "50" "6" "160490994" "160490994" "subst" "0.0006823" "01943" "IGF2R_000011" "g.160490994C>T" "" "" "" "IGF2R(NM_000876.3):c.4347C>T (p.G1449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160069962C>T" "" "VUS" "" "0000527816" "0" "30" "6" "160493913" "160493913" "subst" "3.29194E-5" "01943" "IGF2R_000012" "g.160493913G>A" "" "" "" "IGF2R(NM_000876.3):c.4687G>A (p.V1563M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160072881G>A" "" "likely benign" "" "0000527817" "0" "30" "6" "160517462" "160517462" "subst" "0.000873787" "01943" "IGF2R_000013" "g.160517462G>A" "" "" "" "IGF2R(NM_000876.3):c.6656-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160096430G>A" "" "likely benign" "" "0000610192" "0" "30" "6" "160430125" "160430125" "subst" "5.27966E-5" "01943" "IGF2R_000014" "g.160430125A>G" "" "" "" "IGF2R(NM_000876.3):c.373A>G (p.R125G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160009093A>G" "" "likely benign" "" "0000802424" "0" "30" "6" "160490922" "160490922" "subst" "4.06712E-5" "01943" "IGF2R_000015" "g.160490922C>T" "" "" "" "IGF2R(NM_000876.3):c.4275C>T (p.A1425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802425" "0" "30" "6" "160517598" "160517598" "subst" "0.000129971" "01943" "IGF2R_000016" "g.160517598C>T" "" "" "" "IGF2R(NM_000876.3):c.6783C>T (p.H2261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851126" "0" "30" "6" "160493855" "160493855" "subst" "2.03042E-5" "01943" "IGF2R_000017" "g.160493855C>T" "" "" "" "IGF2R(NM_000876.3):c.4629C>T (p.S1543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851127" "0" "30" "6" "160496968" "160496968" "subst" "3.6547E-5" "01943" "IGF2R_000018" "g.160496968G>A" "" "" "" "IGF2R(NM_000876.3):c.5256G>A (p.A1752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887110" "0" "50" "6" "160445616" "160445616" "subst" "4.06108E-6" "02325" "IGF2R_000019" "g.160445616G>A" "" "" "" "IGF2R(NM_000876.4):c.526G>A (p.V176M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995526" "0" "30" "6" "160412313" "160412313" "subst" "0.000223534" "01804" "IGF2R_000020" "g.160412313G>A" "" "" "" "IGF2R(NM_000876.2):c.247G>A (p.(Val83Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035600" "0" "50" "6" "160445631" "160445635" "del" "0" "01804" "IGF2R_000021" "g.160445631_160445635del" "" "" "" "IGF2R(NM_000876.4):c.541_545del (p.(Leu181Glufs*3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035601" "0" "30" "6" "160499381" "160499381" "subst" "0.0021172" "01804" "IGF2R_000022" "g.160499381C>T" "" "" "" "IGF2R(NM_000876.4):c.5465C>T (p.(Thr1822Met))" "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 IGF2R ## Count = 22 "{{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}}" "0000289509" "00009872" "30" "603" "0" "603" "0" "c.603C>T" "r.(?)" "p.(Ser201=)" "" "0000289510" "00009872" "30" "6798" "0" "6798" "0" "c.6798C>T" "r.(?)" "p.(Cys2266=)" "" "0000289511" "00009872" "30" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Leu262=)" "" "0000527808" "00009872" "50" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Lys170Glu)" "" "0000527809" "00009872" "10" "608" "0" "608" "0" "c.608C>T" "r.(?)" "p.(Pro203Leu)" "" "0000527810" "00009872" "50" "1281" "0" "1281" "0" "c.1281G>C" "r.(?)" "p.(Met427Ile)" "" "0000527811" "00009872" "50" "3115" "0" "3115" "0" "c.3115C>T" "r.(?)" "p.(Arg1039Cys)" "" "0000527812" "00009872" "30" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Ala1252Thr)" "" "0000527813" "00009872" "30" "3944" "0" "3944" "0" "c.3944G>A" "r.(?)" "p.(Gly1315Glu)" "" "0000527814" "00009872" "30" "4094" "0" "4094" "0" "c.4094A>G" "r.(?)" "p.(Asp1365Gly)" "" "0000527815" "00009872" "50" "4347" "0" "4347" "0" "c.4347C>T" "r.(?)" "p.(Gly1449=)" "" "0000527816" "00009872" "30" "4687" "0" "4687" "0" "c.4687G>A" "r.(?)" "p.(Val1563Met)" "" "0000527817" "00009872" "30" "6656" "-9" "6656" "-9" "c.6656-9G>A" "r.(=)" "p.(=)" "" "0000610192" "00009872" "30" "373" "0" "373" "0" "c.373A>G" "r.(?)" "p.(Arg125Gly)" "" "0000802424" "00009872" "30" "4275" "0" "4275" "0" "c.4275C>T" "r.(?)" "p.(Ala1425=)" "" "0000802425" "00009872" "30" "6783" "0" "6783" "0" "c.6783C>T" "r.(?)" "p.(His2261=)" "" "0000851126" "00009872" "30" "4629" "0" "4629" "0" "c.4629C>T" "r.(?)" "p.(Ser1543=)" "" "0000851127" "00009872" "30" "5256" "0" "5256" "0" "c.5256G>A" "r.(?)" "p.(Ala1752=)" "" "0000887110" "00009872" "50" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Val176Met)" "" "0000995526" "00009872" "30" "247" "0" "247" "0" "c.247G>A" "r.(?)" "p.(Val83Ile)" "" "0001035600" "00009872" "50" "541" "0" "545" "0" "c.541_545del" "r.(?)" "p.(Leu181Glufs*3)" "" "0001035601" "00009872" "30" "5465" "0" "5465" "0" "c.5465C>T" "r.(?)" "p.(Thr1822Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0