### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HMGA2) # 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}}" "HMGA2" "high mobility group AT-hook 2" "12" "q15" "unknown" "NG_016296.1" "UD_132085338243" "" "https://www.LOVD.nl/HMGA2" "" "1" "5009" "8091" "600698" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/HMGA2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-08-14 13:20:02" "00006" "2025-09-23 14:50:41" ## 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}}" "00009466" "HMGA2" "transcript variant 1" "001" "NM_003483.4" "" "NP_003474.1" "" "" "" "-811" "3329" "330" "66218240" "66360071" "" "0000-00-00 00:00:00" "" "" ## 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}}" "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" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "00409" "UL" "leiomyoma, uterine (UL)" "" "150699" "" "" "" "00006" "2014-06-08 10:22:37" "00006" "2015-11-16 08:14:00" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HMGA2" "00232" "HMGA2" "00409" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00080114" "" "" "" "1" "" "01594" "{PMID:Spengler 2010:19762329}, for EUCID-SRS consortium" "" "F" "" "" "" "0" "" "" "" "19762329-PatSR29" "00117196" "" "" "" "4" "" "01594" "{PMID:De Crescenzo 2015:25809938}, for EUCID-SRS consortium" "3-generation family, 4 affecteds (3F, M), mother II3" "F" "" "Italy" "" "0" "" "" "" "25809938-PatII3" "00117197" "" "" "00117196" "1" "" "01594" "{PMID:De Crescenzo 2015:25809938}, for EUCID-SRS consortium" "daughter III1" "F" "" "Italy" "" "0" "" "" "" "25809938-PatIII1" "00117198" "" "" "" "1" "" "01594" "{PMID:Abi Habib 2017:28796236}, for EUCID-SRS consortium" "" "" "" "" "" "0" "" "" "" "28796236-Pat" "00117199" "" "" "" "1" "" "01594" "{PMID:Abi Habib 2017:28796236}, for EUCID-SRS consortium" "" "" "" "" "" "0" "" "" "" "28796236-Pat" "00154495" "" "" "" "1" "" "02397" "" "" "F" "no" "Germany" "04y" "0" "" "" "" "" "00412476" "" "" "" "1" "" "00000" "{PMID:Delvallee 2021:33169370}" "" "" "" "France" "" "0" "" "" "" "B.II-1" "00449692" "" "" "" "1" "cc_by-nc-sa_4.0;1" "01962" "" "" "F" "no" "Japan" "" "" "" "" "" "" "00449693" "" "" "" "1" "cc_by-nc-sa_4.0;1" "01962" "" "" "M" "no" "Japan" "" "0" "" "" "" "" "00466039" "" "" "" "1" "" "04866" "" "" "M" "" "Hong Kong" "" "" "" "" "Chinese" "314C" "00466693" "" "" "" "1" "" "00006" "{PMID:Plachy 2019:30753492}" "" "M" "" "Czech Republic" "" "0" "" "" "" "Pat14" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00080114" "00232" "00117196" "00232" "00117197" "00232" "00117198" "00232" "00117199" "00232" "00154495" "00232" "00412476" "04214" "00449692" "00232" "00449693" "00232" "00466039" "00291" "00466693" "04184" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00232, 00291, 00409, 04184, 04214 ## Count = 11 "{{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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}" "{{Phenotype/Asymmetry/Body}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000059690" "00232" "00080114" "01594" "Unknown" "" "prominent forehead (HP:0011220)" "" "nr" "" "feeding problems" "" "" "" "small" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "SRS n/a (Netchine Harbison-Score 4/5)" "SRS" "0000092442" "00232" "00117196" "01594" "Unknown" "" "prominent forehead (HP:0011220)" "" "no macrocephaly congenital" "" "feeding problems" "" "" "" "nr" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "unlikely SRS (Netchine Harbison-Score 3/5)" "SRS" "0000092443" "00232" "00117197" "01594" "Unknown" "" "prominent forehead (HP:0011220)" "" "macrocephaly congenital" "" "feeding problems" "" "" "" "small" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "clinical SRS (Netchine Harbison-Score 5/6)" "SRS" "0000092444" "00232" "00117198" "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)" "SRS" "0000092445" "00232" "00117199" "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)" "SRS" "0000127229" "00232" "00154495" "02397" "Isolated (sporadic)" "" "see paper; ..., triangular face (HP:0000325)" "" "nr" "" "" "" "" "" "delayed growth" "" "" "" "delayed" "no asymmetric growth" "SRS" "SRS" "0000304478" "04214" "00412476" "00000" "Familial, autosomal recessive" "" "sensorineural features: retinal dystrophy, nystagmus; abnormalities of the hands and feet: postaxial polydactyly: hands; brachydactyly; obesity: BMI (47.3); mild intellectual disability; learning difficulty; slow ideation; motor development delay; micropenis; cryptorchidism" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000338863" "00232" "00449692" "01962" "Isolated (sporadic)" "" "Triangular face, Micrognathia, Clinodactyly; prominent forehead (HP:0011220)" "" "macrocephaly relative" "" "feeding problems" "" "" "" "delayed growth" "" "" "" "delayed" "no asymmetric growth" "Silver-Russell syndrome" "Silver-Russell syndrome" "0000338864" "00232" "00449693" "01962" "Isolated (sporadic)" "" "see paper; ..., triangular face, micrognathia, clinodactyly, osteopoikilosis; no prominent forehead (-HP:0011220)" "" "macrocephaly relative" "" "no feeding problems" "" "" "" "delayed growth" "" "" "" "delayed" "no asymmetric growth" "Silver-Russell syndrome" "Silver-Russell syndrome" "0000351423" "00291" "00466039" "04866" "Unknown" "6y-15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352056" "04184" "00466693" "00006" "Familial, autosomal dominant" "5y" "see paper; ..., growth hormone deficiency; height SDS-3.06; birth weight SDS-1.94, length SDS-1.42" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "short stature" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080206" "00080114" "1" "01594" "00008" "2016-09-01 17:30:25" "" "" "arrayCNV; SEQ" "DNA" "" "" "0000117657" "00117196" "1" "01594" "00006" "2017-08-14 12:50:33" "" "" "SEQ" "DNA" "" "" "0000117658" "00117197" "1" "01594" "00006" "2017-08-14 13:06:44" "" "" "SEQ" "DNA" "" "" "0000117659" "00117198" "1" "01594" "00006" "2017-08-14 13:12:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000117660" "00117199" "1" "01594" "00006" "2017-08-14 13:15:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000155354" "00154495" "1" "02397" "02397" "2018-02-27 14:59:00" "" "" "SEQ-NG" "DNA" "" "" "0000413746" "00412476" "1" "00000" "03840" "2022-06-29 13:33:34" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000451283" "00449692" "1" "01962" "01962" "2024-05-01 09:05:21" "" "" "SEQ-NG" "DNA" "" "" "0000451284" "00449693" "1" "01962" "01962" "2024-05-01 09:19:19" "" "" "arrayCGH" "DNA" "" "" "0000467692" "00466039" "1" "04866" "04866" "2025-07-13 09:02:24" "" "" "MS;SEQ-NG-I" "DNA" "blood" "" "0000468357" "00466693" "1" "00006" "00006" "2025-09-23 14:50:33" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000117657" "HMGA2" "0000117658" "HMGA2" "0000117659" "HMGA2" "0000117660" "HMGA2" "0000155354" "HMGA2" "0000413746" "BBS1" ## 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 = 39 "{{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}}" "0000129155" "0" "50" "12" "65360676" "66709488" "" "0" "01594" "HMGA2_000004" "g.(58100001_65360676)_(66709488_67700000)del" "" "{PMID:Spengler 2010:19762329}, for EUCID-SRS consortium" "" "12q14 microdeletion" "deletion affecting HMGA2 and LEMD3" "De novo" "" "" "0" "normal methylation H19/IGF2:IG-DMR, KCNQ1OT1:TSS-DMR" "arr[hg19] 12q14(65,360,676-66,709,488)x1" "" "" "VUS" "" "0000188624" "11" "90" "12" "66357019" "66357025" "del" "0" "01594" "HMGA2_000001" "g.66357019_66357025del" "" "{PMID:De Crescenzo 2015:25809938}, for EUCID-SRS consortium" "" "NM_001300918.1:c.285-1_-7" "" "Germline" "" "" "0" "" "" "g.65963239_65963245del" "" "pathogenic" "" "0000188625" "21" "90" "12" "66357019" "66357025" "del" "0" "01594" "HMGA2_000001" "g.66357019_66357025del" "" "{PMID:De Crescenzo 2015:25809938}, for EUCID-SRS consortium" "" "NM_001300918.1:c.285-1_-7" "" "Germline" "" "" "0" "" "" "g.65963239_65963245del" "" "pathogenic" "" "0000188626" "0" "90" "12" "66221862" "66221862" "subst" "0" "01594" "HMGA2_000002" "g.66221862C>T" "" "{PMID:Abi Habib 2017:28796236}, for EUCID-SRS consortium" "" "" "" "Germline" "" "" "0" "" "" "g.65828082C>T" "" "pathogenic" "" "0000188627" "0" "90" "12" "66221858" "66221858" "del" "0" "01594" "HMGA2_000003" "g.66221858del" "" "{PMID:Abi Habib 2017:28796236}, for EUCID-SRS consortium" "" "" "" "Germline" "" "" "0" "" "" "g.65828078del" "" "pathogenic" "" "0000249177" "0" "10" "12" "66308644" "66308644" "subst" "0" "02325" "HMGA2_000007" "g.66308644A>G" "" "" "" "HMGA2(NM_003483.6):c.250-36519A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65914864A>G" "" "benign" "" "0000355074" "0" "90" "12" "66217407" "66224664" "del" "0" "02397" "HMGA2_000008" "g.66217407_66224664del" "" "" "" "" "DNA breakpoints were determined by breakpoint PCR" "De novo" "" "" "0" "" "" "g.65823627_65830884del" "" "pathogenic" "" "0000549013" "0" "10" "12" "66232355" "66232355" "subst" "0.0254307" "01804" "HMGA2_000009" "g.66232355T>A" "" "" "" "HMGA2(NM_001300918.1):c.249+6T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65838575T>A" "" "benign" "" "0000614359" "0" "70" "12" "66221813" "66221813" "del" "0" "01804" "HMGA2_000010" "g.66221813del" "" "" "" "HMGA2(NM_003483.4):c.144del (p.(Arg49GlyfsTer117))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65828033del" "" "likely pathogenic" "" "0000614360" "0" "50" "12" "66232324" "66232324" "subst" "0" "02327" "HMGA2_000011" "g.66232324G>A" "" "" "" "HMGA2(NM_003483.6):c.224G>A (p.(Arg75Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65838544G>A" "" "VUS" "" "0000691410" "0" "70" "12" "66221779" "66221779" "subst" "0" "02327" "HMGA2_000012" "g.66221779A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000805921" "0" "30" "12" "66345187" "66345187" "subst" "0.000464538" "01804" "HMGA2_000013" "g.66345187C>G" "" "" "" "HMGA2(NM_001300918.1):c.274C>G (p.(Pro92Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853507" "0" "30" "12" "66221849" "66221849" "subst" "8.1217E-6" "01804" "HMGA2_000018" "g.66221849C>T" "" "" "" "HMGA2(NM_003483.4):c.180C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863108" "0" "50" "12" "66219056" "66219056" "subst" "0" "02327" "HMGA2_000014" "g.66219056C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863109" "0" "70" "12" "66219099" "66219099" "subst" "0" "01804" "HMGA2_000015" "g.66219099G>T" "" "" "" "HMGA2(NM_003483.4):c.49G>T (p.(Gly17*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000863110" "0" "50" "12" "66219144" "66219144" "subst" "0" "02327" "HMGA2_000016" "g.66219144C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863111" "0" "30" "12" "66221767" "66221767" "subst" "0.000198994" "01804" "HMGA2_000017" "g.66221767T>C" "" "" "" "HMGA2(NM_001300918.1):c.112-14T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863112" "0" "30" "12" "66221864" "66221864" "subst" "8.93474E-5" "01804" "HMGA2_000019" "g.66221864A>G" "" "" "" "HMGA2(NM_003483.4):c.195A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863113" "0" "50" "12" "66232284" "66232284" "subst" "4.09688E-5" "01804" "HMGA2_000020" "g.66232284C>A" "" "" "" "HMGA2(NM_003483.4):c.199-15C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863114" "0" "10" "12" "66232291" "66232291" "subst" "0.0021419" "01804" "HMGA2_000021" "g.66232291A>G" "" "" "" "HMGA2(NM_001300918.1):c.199-8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863115" "0" "30" "12" "66308886" "66308886" "subst" "1.21902E-5" "01804" "HMGA2_000022" "g.66308886A>C" "" "" "" "HMGA2(NM_001300919.1):c.*192A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863116" "0" "30" "12" "66308896" "66308896" "subst" "0.00307604" "01804" "HMGA2_000023" "g.66308896A>G" "" "" "" "HMGA2(NM_001300919.1):c.*202A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863117" "0" "70" "12" "66357041" "66357041" "dup" "0" "01804" "HMGA2_000024" "g.66357041dup" "" "" "" "HMGA2(NM_003483.4):c.299dup (p.(Ser101Ilefs*116))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000871281" "0" "90" "12" "66293652" "66293652" "subst" "0" "00000" "BBS1_000001" "g.66293652T>G" "" "{PMID:Delvallee 2021:33169370}" "" "BBS1 c.1169T>G, p.(Met390Arg)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.66526181T>G" "" "pathogenic (recessive)" "" "0000890754" "0" "50" "12" "66219057" "66219057" "subst" "0" "01804" "HMGA2_000025" "g.66219057G>C" "" "" "" "HMGA2(NM_003483.4):c.7G>C (p.(Ala3Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890755" "0" "30" "12" "66308833" "66308833" "subst" "4.06395E-5" "01804" "HMGA2_000026" "g.66308833C>A" "" "" "" "HMGA2(NM_003483.4):c.250-36330C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000905189" "0" "70" "12" "66357053" "66357054" "del" "0" "03779" "HMGA2_000027" "g.66357053_66357054del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000930137" "0" "30" "12" "66357057" "66357057" "subst" "0.000176488" "01804" "HMGA2_000028" "g.66357057T>C" "" "" "" "HMGA2(NM_003483.4):c.315T>C (p.(Ser105=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950019" "0" "30" "12" "66232368" "66232368" "subst" "0" "01804" "HMGA2_000029" "g.66232368T>C" "" "" "" "HMGA2(NM_001300918.1):c.249+19T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950020" "0" "30" "12" "66346128" "66346128" "subst" "0" "01804" "HMGA2_000030" "g.66346128T>C" "" "" "" "HMGA2(NM_001300918.1):c.283-8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980430" "0" "30" "12" "66221767" "66221767" "dup" "0" "01804" "HMGA2_000031" "g.66221767dup" "" "" "" "HMGA2(NM_003483.4):c.112-14dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985110" "0" "90" "12" "66221807" "66221810" "delins" "0" "01962" "HMGA2_000032" "g.66221807_66221810delinsCT" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.65828027_65828030delinsCT" "" "pathogenic" "ACMG" "0000985111" "0" "90" "12" "64264960" "67708363" "del" "0" "01962" "HMGA2_000033" "g.(?_64264960)_(67708363_?)del" "" "" "" "64264960_67708363del" "" "De novo" "" "" "0" "" "" "g.(?_63871180)_(67314583_?)del" "" "pathogenic" "" "0001000292" "0" "50" "12" "66232342" "66232342" "subst" "0" "01804" "HMGA2_000034" "g.66232342G>T" "" "" "" "HMGA2(NM_003483.4):c.242G>T (p.(Arg81Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026227" "0" "50" "12" "66219155" "66219155" "subst" "0" "01804" "HMGA2_000035" "g.66219155G>C" "" "" "" "HMGA2(NM_003483.4):c.105G>C (p.(Gln35His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039417" "0" "50" "12" "66232324" "66232324" "subst" "0" "01804" "HMGA2_000011" "g.66232324G>A" "" "" "" "HMGA2(NM_003483.6):c.224G>A (p.(Arg75Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046395" "0" "50" "12" "66219105" "66219105" "subst" "0" "01804" "HMGA2_000036" "g.66219105C>T" "" "" "" "HMGA2(NM_003483.4):c.55C>T (p.(Pro19Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046905" "0" "50" "12" "66279090" "66279090" "subst" "0" "04866" "HMGA2_000037" "g.66279090T>C" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.65885310T>C" "" "VUS" "ACMG" "0001048179" "0" "70" "12" "66232323" "66232323" "subst" "0" "00006" "HMGA2_000038" "g.66232323C>T" "" "{PMID:Plachy 2019:30753492}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.65838543C>T" "" "likely pathogenic" "" ## 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 HMGA2 ## Count = 39 "{{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}}" "0000129155" "00009466" "50" "-1" "0" "331" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "" "0000188624" "00009466" "90" "283" "-6" "283" "0" "c.283-6_283del" "r.spl" "p.?" "4i" "0000188625" "00009466" "90" "283" "-6" "283" "0" "c.283-6_283del" "r.spl" "p.?" "4i" "0000188626" "00009466" "90" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(Gln65*)" "2" "0000188627" "00009466" "90" "189" "0" "189" "0" "c.189del" "r.(?)" "p.(Ala64Leufs*102)" "2" "0000249177" "00009466" "10" "250" "-36519" "250" "-36519" "c.250-36519A>G" "r.(=)" "p.(=)" "" "0000355074" "00009466" "90" "-1644" "0" "198" "2797" "c.-1644_198+2797del" "r.0?" "p.0?" "_1_2i" "0000549013" "00009466" "10" "249" "6" "249" "6" "c.249+6T>A" "r.(=)" "p.(=)" "" "0000614359" "00009466" "70" "144" "0" "144" "0" "c.144del" "r.(?)" "p.(Arg49GlyfsTer117)" "" "0000614360" "00009466" "50" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75Gln)" "" "0000691410" "00009466" "70" "112" "-2" "112" "-2" "c.112-2A>G" "r.spl?" "p.?" "" "0000805921" "00009466" "30" "274" "0" "274" "0" "c.274C>G" "r.(?)" "p.(Pro92Ala)" "" "0000853507" "00009466" "30" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Pro60=)" "" "0000863108" "00009466" "50" "6" "0" "6" "0" "c.6C>A" "r.(?)" "p.(Ser2Arg)" "" "0000863109" "00009466" "70" "49" "0" "49" "0" "c.49G>T" "r.(?)" "p.(Gly17*)" "" "0000863110" "00009466" "50" "94" "0" "94" "0" "c.94C>A" "r.(?)" "p.(Pro32Thr)" "" "0000863111" "00009466" "30" "112" "-14" "112" "-14" "c.112-14T>C" "r.(=)" "p.(=)" "" "0000863112" "00009466" "30" "195" "0" "195" "0" "c.195A>G" "r.(?)" "p.(Gln65=)" "" "0000863113" "00009466" "50" "199" "-15" "199" "-15" "c.199-15C>A" "r.(=)" "p.(=)" "" "0000863114" "00009466" "10" "199" "-8" "199" "-8" "c.199-8A>G" "r.(=)" "p.(=)" "" "0000863115" "00009466" "30" "250" "-36277" "250" "-36277" "c.250-36277A>C" "r.(=)" "p.(=)" "" "0000863116" "00009466" "30" "250" "-36267" "250" "-36267" "c.250-36267A>G" "r.(=)" "p.(=)" "" "0000863117" "00009466" "70" "299" "0" "299" "0" "c.299dup" "r.(?)" "p.(Ser101Ilefs*116)" "" "0000871281" "00009466" "90" "250" "-51511" "250" "-51511" "c.250-51511T>G" "r.(=)" "p.(=)" "" "0000890754" "00009466" "50" "7" "0" "7" "0" "c.7G>C" "r.(?)" "p.(Ala3Pro)" "" "0000890755" "00009466" "30" "250" "-36330" "250" "-36330" "c.250-36330C>A" "r.(=)" "p.(=)" "" "0000905189" "00009466" "70" "311" "0" "312" "0" "c.311_312del" "r.(?)" "p.(Glu104ValfsTer112)" "" "0000930137" "00009466" "30" "315" "0" "315" "0" "c.315T>C" "r.(?)" "p.(=)" "" "0000950019" "00009466" "30" "249" "19" "249" "19" "c.249+19T>C" "r.(=)" "p.(=)" "" "0000950020" "00009466" "30" "282" "933" "282" "933" "c.282+933T>C" "r.(=)" "p.(=)" "" "0000980430" "00009466" "30" "112" "-14" "112" "-14" "c.112-14dup" "r.(=)" "p.(=)" "" "0000985110" "00009466" "90" "138" "0" "141" "0" "c.138_141delinsCT" "r.(?)" "p.(Lys46Asnfs*16)" "" "0000985111" "00009466" "90" "0" "0" "0" "0" "c.-811_*2999{0}" "r.0" "p.0" "_1_5_" "0001000292" "00009466" "50" "242" "0" "242" "0" "c.242G>T" "r.(?)" "p.(Arg81Met)" "" "0001026227" "00009466" "50" "105" "0" "105" "0" "c.105G>C" "r.(?)" "p.(Gln35His)" "" "0001039417" "00009466" "50" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75Gln)" "" "0001046395" "00009466" "50" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Pro19Ser)" "" "0001046905" "00009466" "50" "249" "46741" "249" "46741" "c.249+46741T>C" "r.(?)" "p.(=)" "" "0001048179" "00009466" "70" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000080206" "0000129155" "0000117657" "0000188624" "0000117658" "0000188625" "0000117659" "0000188626" "0000117660" "0000188627" "0000155354" "0000355074" "0000413746" "0000871281" "0000451283" "0000985110" "0000451284" "0000985111" "0000467692" "0001046905" "0000468357" "0001048179"