### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IHH) # 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}}" "IHH" "Indian hedgehog" "2" "q33-q35" "unknown" "NG_016741.1" "UD_132085313202" "" "https://www.LOVD.nl/IHH" "" "1" "5956" "3549" "600726" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/IHH_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-04-03 12:18:59" "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}}" "00009908" "IHH" "Indian hedgehog" "001" "NM_002181.3" "" "NP_002172.2" "" "" "" "-49" "2023" "1236" "219925238" "219919142" "" "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}}" "01211" "BDA1" "brachydactyly, type A1 (BDA1)" "AD" "112500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-03 12:20:16" "02703" "ACFD" "dysplasia, acrocapitofemoral (ACFD)" "AR" "607778" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-03 12:21:03" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "IHH" "01211" "IHH" "02703" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00295493" "" "" "" "1" "" "03619" "" "" "F" "" "China" "" "0" "" "" "" "" "00331493" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "17DG0806" "00418578" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00459485" "" "" "" "4" "" "04787" "" "" "F" "yes" "Pakistan" "" "" "" "" "" "ARD02 V2" "00466683" "" "" "" "1" "" "00006" "{PMID:Plachy 2019:30753492}" "" "M" "" "Czech Republic" "" "0" "" "" "" "Pat4" "00466694" "" "" "" "1" "" "00006" "{PMID:Plachy 2019:30753492}" "" "M" "" "Czech Republic" "" "0" "" "" "" "Pat15" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00295493" "01211" "00331493" "05517" "00418578" "01211" "00459485" "05517" "00466683" "04184" "00466694" "04184" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01211, 02703, 04184, 05517 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000223059" "01211" "00295493" "03619" "Familial, autosomal recessive" "" "The proband (Ⅳ-2) was a 30-year-old female, who presented with mild disproportionate short stature with a Height Standard Deviation Score (HSDS) of -2.4SD. The radiograph of her hands showed varying degrees of shortening of the middle phalanx of the second to fifth fingers, and the middle phalanges in digit five was fused to the terminal phalanx as only one interdigital joint was visible." "" "" "" "" "" "" "" "" "" "0000249685" "05517" "00331493" "00000" "Familial, autosomal recessive" "" "Neonatal respiratory distress, Depressed nasal bridge, Madelung deformity" "" "" "" "" "" "" "" "Acromelic dysplasias" "skeletal dysplasia" "0000347561" "05517" "00459485" "04787" "Familial, autosomal recessive" "" "" "by birth" "" "" "" "" "" "" "" "Short stature skeletal dysplasia" "0000352046" "04184" "00466683" "00006" "Unknown" "10y" "see paper; ..., small for gestational age, advanced bone age (+1.9y); height SDS-3.42; birth weight SDS-1.62, length SDS-3.26" "" "" "" "" "" "" "" "" "short stature" "0000352057" "04184" "00466694" "00006" "Unknown" "9y" "see paper; ..., growth hormone deficiency, minor stigmata; height SDS-3.04; birth weight SDS-1.57, length SDS-1.68" "" "" "" "" "" "" "" "" "short stature" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000296660" "00295493" "1" "03619" "03619" "2020-03-12 04:35:00" "" "" "SEQ-NG" "DNA" "Perpheral Blood" "" "0000332712" "00331493" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419873" "00418578" "1" "01741" "01741" "2022-09-30 10:46:29" "" "" "SEQ" "DNA" "" "" "0000461110" "00459485" "1" "04787" "04787" "2025-01-06 06:47:02" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000468347" "00466683" "1" "00006" "00006" "2025-09-23 14:50:33" "" "" "SEQ-NG" "DNA" "" "WES" "0000468358" "00466694" "1" "00006" "00006" "2025-09-23 14:50:33" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000296660" "IHH" "0000332712" "IHH" "0000419873" "IHH" ## 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 = 120 "{{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}}" "0000247939" "0" "10" "2" "219920037" "219920037" "subst" "0.834853" "02325" "IHH_000001" "g.219920037A>G" "" "" "" "IHH(NM_002181.3):c.1128T>C (p.T376=), IHH(NM_002181.4):c.1128T>C (p.T376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000247940" "0" "10" "2" "219920412" "219920412" "subst" "0.598343" "02325" "IHH_000002" "g.219920412A>G" "" "" "" "IHH(NM_002181.3):c.753T>C (p.P251=), IHH(NM_002181.4):c.753T>C (p.P251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219055690A>G" "" "benign" "" "0000253200" "0" "10" "2" "219920037" "219920037" "subst" "0.834853" "01943" "IHH_000001" "g.219920037A>G" "" "" "" "IHH(NM_002181.3):c.1128T>C (p.T376=), IHH(NM_002181.4):c.1128T>C (p.T376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000253201" "0" "10" "2" "219920412" "219920412" "subst" "0.598343" "01943" "IHH_000002" "g.219920412A>G" "" "" "" "IHH(NM_002181.3):c.753T>C (p.P251=), IHH(NM_002181.4):c.753T>C (p.P251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219055690A>G" "" "benign" "" "0000289537" "0" "50" "2" "219925002" "219925002" "subst" "0" "01943" "IHH_000012" "g.219925002G>C" "" "" "" "IHH(NM_002181.3):c.188C>G (p.A63G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219060280G>C" "" "VUS" "" "0000289538" "0" "30" "2" "219924962" "219924962" "subst" "0.000789176" "01943" "IHH_000011" "g.219924962C>T" "" "" "" "IHH(NM_002181.3):c.228G>A (p.E76=, p.(Glu76=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219060240C>T" "" "likely benign" "" "0000289539" "0" "50" "2" "219924961" "219924961" "subst" "0.000789311" "01943" "IHH_000010" "g.219924961G>T" "" "" "" "IHH(NM_002181.3):c.229C>A (p.R77S, p.(Arg77Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219060239G>T" "" "VUS" "" "0000289540" "0" "50" "2" "219924915" "219924915" "subst" "0" "01943" "IHH_000009" "g.219924915T>A" "" "" "" "IHH(NM_002181.3):c.275A>T (p.K92M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219060193T>A" "" "VUS" "" "0000289541" "0" "90" "2" "219924908" "219924910" "del" "0" "01943" "IHH_000008" "g.219924908_219924910del" "" "" "" "IHH(NM_002181.3):c.283_285del (p.(Glu95del)), IHH(NM_002181.3):c.283_285delGAG (p.E95del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219060186_219060188del" "" "pathogenic" "" "0000289542" "0" "10" "2" "219924867" "219924867" "subst" "0.00413739" "01943" "IHH_000007" "g.219924867G>A" "" "" "" "IHH(NM_002181.3):c.315+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219060145G>A" "" "benign" "" "0000289543" "0" "50" "2" "219922304" "219922304" "subst" "0" "01943" "IHH_000006" "g.219922304G>T" "" "" "" "IHH(NM_002181.3):c.428C>A (p.S143Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219057582G>T" "" "VUS" "" "0000289544" "0" "10" "2" "219920565" "219920565" "subst" "0.100129" "01943" "IHH_000004" "g.219920565C>T" "" "" "" "IHH(NM_002181.3):c.600G>A (p.T200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219055843C>T" "" "benign" "" "0000289545" "0" "10" "2" "219920547" "219920547" "subst" "0.00472551" "01943" "IHH_000003" "g.219920547G>A" "" "" "" "IHH(NM_002181.3):c.618C>T (p.A206=, p.(Ala206=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219055825G>A" "" "benign" "" "0000350253" "0" "70" "2" "219922380" "219922380" "subst" "0" "02327" "IHH_000013" "g.219922380C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219057658C>T" "" "likely pathogenic" "" "0000514676" "0" "30" "2" "219920292" "219920292" "subst" "0.00173327" "01943" "IHH_000014" "g.219920292C>T" "" "" "" "IHH(NM_002181.3):c.873G>A (p.R291=, p.(Arg291=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219055570C>T" "" "likely benign" "" "0000514677" "0" "30" "2" "219920308" "219920308" "subst" "0.00110727" "01804" "IHH_000015" "g.219920308G>A" "" "" "" "IHH(NM_002181.3):c.857C>T (p.P286L, p.(Pro286Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219055586G>A" "" "likely benign" "" "0000514678" "0" "30" "2" "219920329" "219920329" "subst" "6.51768E-5" "01804" "IHH_000016" "g.219920329G>A" "" "" "" "IHH(NM_002181.3):c.836C>T (p.T279M, p.(Thr279Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219055607G>A" "" "likely benign" "" "0000514679" "0" "90" "2" "219922349" "219922349" "subst" "0" "01943" "IHH_000017" "g.219922349C>A" "" "" "" "IHH(NM_002181.3):c.383G>T (p.R128L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219057627C>A" "" "pathogenic" "" "0000514680" "0" "50" "2" "219922412" "219922412" "subst" "0" "02327" "IHH_000018" "g.219922412C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219057690C>A" "" "VUS" "" "0000514681" "0" "30" "2" "219924867" "219924867" "subst" "0.00413739" "01804" "IHH_000007" "g.219924867G>A" "" "" "" "IHH(NM_002181.3):c.315+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219060145G>A" "" "likely benign" "" "0000607501" "0" "30" "2" "219920329" "219920329" "subst" "6.51768E-5" "01943" "IHH_000016" "g.219920329G>A" "" "" "" "IHH(NM_002181.3):c.836C>T (p.T279M, p.(Thr279Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219055607G>A" "" "likely benign" "" "0000607502" "0" "50" "2" "219920336" "219920336" "subst" "0" "01804" "IHH_000019" "g.219920336G>A" "" "" "" "IHH(NM_002181.3):c.829C>T (p.(Leu277Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219055614G>A" "" "VUS" "" "0000607503" "0" "90" "2" "219924908" "219924910" "del" "0" "01804" "IHH_000008" "g.219924908_219924910del" "" "" "" "IHH(NM_002181.3):c.283_285del (p.(Glu95del)), IHH(NM_002181.3):c.283_285delGAG (p.E95del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219060186_219060188del" "" "pathogenic" "" "0000653351" "11" "70" "2" "219924891" "219924891" "subst" "0" "03619" "IHH_000020" "g.219924891T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.219060169T>C" "" "pathogenic (dominant)" "" "0000676515" "0" "30" "2" "219920410" "219920410" "subst" "0.00476473" "01804" "IHH_000021" "g.219920410T>C" "" "" "" "IHH(NM_002181.3):c.755A>G (p.(His252Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676516" "0" "30" "2" "219920432" "219920432" "subst" "0" "01804" "IHH_000022" "g.219920432T>C" "" "" "" "IHH(NM_002181.3):c.733A>G (p.(Ile245Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676517" "0" "30" "2" "219922275" "219922275" "subst" "0" "01804" "IHH_000023" "g.219922275T>A" "" "" "" "IHH(NM_002181.3):c.457A>T (p.(Ile153Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718500" "0" "90" "2" "219922163" "219922163" "subst" "0" "01804" "IHH_000024" "g.219922163A>G" "" "" "" "IHH(NM_002181.3):c.569T>C (p.(Val190Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718501" "0" "50" "2" "219922350" "219922350" "subst" "0" "02329" "IHH_000025" "g.219922350G>A" "" "" "" "IHH(NM_002181.4):c.382C>T (p.R128W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718502" "0" "90" "2" "219924908" "219924910" "del" "0" "02327" "IHH_000008" "g.219924908_219924910del" "" "" "" "IHH(NM_002181.3):c.283_285del (p.(Glu95del)), IHH(NM_002181.3):c.283_285delGAG (p.E95del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718503" "0" "50" "2" "219925062" "219925062" "subst" "1.66857E-5" "01943" "IHH_000026" "g.219925062T>C" "" "" "" "IHH(NM_002181.3):c.128A>G (p.K43R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729994" "3" "90" "2" "219922380" "219922380" "subst" "0" "00000" "IHH_000013" "g.219922380C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_002181.3:c.352G>A:p.(Val118Met)" "" "Germline" "" "" "0" "" "" "g.219057658C>T" "" "likely pathogenic (recessive)" "" "0000800392" "0" "50" "2" "219920336" "219920336" "subst" "0" "02327" "IHH_000019" "g.219920336G>A" "" "" "" "IHH(NM_002181.3):c.829C>T (p.(Leu277Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800393" "0" "30" "2" "219920384" "219920384" "subst" "2.44027E-5" "01804" "IHH_000027" "g.219920384C>T" "" "" "" "IHH(NM_002181.3):c.781G>A (p.(Glu261Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800394" "0" "50" "2" "219920576" "219920576" "subst" "0" "02327" "IHH_000028" "g.219920576C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800395" "0" "30" "2" "219924983" "219924983" "subst" "8.54214E-5" "01804" "IHH_000029" "g.219924983G>T" "" "" "" "IHH(NM_002181.3):c.207C>A (p.(Gly69=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000842555" "0" "70" "2" "219924882" "219924882" "subst" "0" "03779" "IHH_000030" "g.219924882A>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000849735" "0" "30" "2" "219920308" "219920308" "subst" "0.00110727" "01943" "IHH_000015" "g.219920308G>A" "" "" "" "IHH(NM_002181.3):c.857C>T (p.P286L, p.(Pro286Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858331" "0" "30" "2" "219919968" "219919968" "subst" "0" "01804" "IHH_000031" "g.219919968G>T" "" "" "" "IHH(NM_002181.3):c.1197C>A (p.(Gly399=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858332" "0" "30" "2" "219919971" "219919971" "subst" "1.76738E-5" "01804" "IHH_000032" "g.219919971C>G" "" "" "" "IHH(NM_002181.3):c.1194G>C (p.(Glu398Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858333" "0" "50" "2" "219920173" "219920173" "subst" "3.2921E-5" "01804" "IHH_000033" "g.219920173G>A" "" "" "" "IHH(NM_002181.3):c.992C>T (p.(Pro331Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858334" "0" "30" "2" "219920196" "219920196" "subst" "0.0049633" "01804" "IHH_000034" "g.219920196G>A" "" "" "" "IHH(NM_002181.3):c.969C>T (p.(His323=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858335" "0" "50" "2" "219920255" "219920255" "subst" "4.11902E-6" "01804" "IHH_000035" "g.219920255C>T" "" "" "" "IHH(NM_002181.3):c.910G>A (p.(Val304Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858336" "0" "30" "2" "219920292" "219920292" "subst" "0.00173327" "01804" "IHH_000014" "g.219920292C>T" "" "" "" "IHH(NM_002181.3):c.873G>A (p.R291=, p.(Arg291=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858337" "0" "50" "2" "219920299" "219920299" "subst" "4.51653E-5" "01804" "IHH_000036" "g.219920299C>T" "" "" "" "IHH(NM_002181.3):c.866G>A (p.(Arg289His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858338" "0" "30" "2" "219920346" "219920346" "subst" "0.00197833" "01804" "IHH_000037" "g.219920346G>A" "" "" "" "IHH(NM_002181.3):c.819C>T (p.(Pro273=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858339" "0" "30" "2" "219920349" "219920349" "subst" "8.14206E-6" "01804" "IHH_000038" "g.219920349T>C" "" "" "" "IHH(NM_002181.3):c.816A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858340" "0" "30" "2" "219920439" "219920439" "subst" "0" "01804" "IHH_000039" "g.219920439A>G" "" "" "" "IHH(NM_002181.3):c.726T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858341" "0" "30" "2" "219920463" "219920463" "subst" "0.000134182" "01804" "IHH_000040" "g.219920463C>T" "" "" "" "IHH(NM_002181.3):c.702G>A (p.(Glu234=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858342" "0" "50" "2" "219920503" "219920503" "subst" "4.07501E-6" "01804" "IHH_000041" "g.219920503G>A" "" "" "" "IHH(NM_002181.3):c.662C>T (p.(Ser221Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858343" "0" "30" "2" "219920518" "219920518" "subst" "0.000183968" "01804" "IHH_000042" "g.219920518G>A" "" "" "" "IHH(NM_002181.3):c.647C>T (p.(Ala216Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858344" "0" "30" "2" "219920547" "219920547" "subst" "0.00472551" "01804" "IHH_000003" "g.219920547G>A" "" "" "" "IHH(NM_002181.3):c.618C>T (p.A206=, p.(Ala206=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858345" "0" "30" "2" "219920562" "219920562" "subst" "1.67017E-5" "01804" "IHH_000043" "g.219920562G>A" "" "" "" "IHH(NM_002181.3):c.603C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858346" "0" "30" "2" "219920580" "219920580" "subst" "3.83125E-5" "01804" "IHH_000044" "g.219920580C>T" "" "" "" "IHH(NM_002181.3):c.585G>A (p.(Ser195=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858347" "0" "50" "2" "219922246" "219922246" "subst" "4.06587E-6" "01804" "IHH_000045" "g.219922246C>A" "" "" "" "IHH(NM_002181.3):c.486G>T (p.(Lys162Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858348" "0" "70" "2" "219922299" "219922299" "subst" "4.06293E-6" "01804" "IHH_000046" "g.219922299G>A" "" "" "" "IHH(NM_002181.3):c.433C>T (p.(His145Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858349" "0" "50" "2" "219922364" "219922364" "subst" "0" "01804" "IHH_000047" "g.219922364G>A" "" "" "" "IHH(NM_002181.3):c.368C>T (p.(Pro123Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858350" "0" "30" "2" "219922427" "219922430" "del" "0" "01804" "IHH_000048" "g.219922427_219922430del" "" "" "" "IHH(NM_002181.3):c.316-13_316-10del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858351" "0" "50" "2" "219924876" "219924876" "subst" "4.14051E-6" "01804" "IHH_000049" "g.219924876T>A" "" "" "" "IHH(NM_002181.3):c.314A>T (p.(Gln105Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858352" "0" "50" "2" "219924945" "219924945" "subst" "2.03457E-5" "01804" "IHH_000050" "g.219924945G>A" "" "" "" "IHH(NM_002181.3):c.245C>T (p.(Thr82Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000880045" "0" "70" "2" "219924892" "219924892" "subst" "0" "01741" "IHH_000051" "g.219924892C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "" "0000884895" "0" "30" "2" "219920035" "219920035" "subst" "8.60769E-5" "01804" "IHH_000052" "g.219920035G>A" "" "" "" "IHH(NM_002181.3):c.1130C>T (p.(Pro377Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884896" "0" "30" "2" "219920163" "219920163" "subst" "0" "01804" "IHH_000053" "g.219920163C>G" "" "" "" "IHH(NM_002181.3):c.1002G>C (p.(Lys334Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884897" "0" "50" "2" "219920491" "219920491" "subst" "2.03606E-5" "01804" "IHH_000054" "g.219920491G>A" "" "" "" "IHH(NM_002181.3):c.674C>T (p.(Pro225Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884898" "0" "50" "2" "219922230" "219922230" "subst" "8.15189E-6" "02327" "IHH_000055" "g.219922230G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884899" "0" "50" "2" "219922250" "219922250" "subst" "4.06501E-6" "01804" "IHH_000056" "g.219922250T>C" "" "" "" "IHH(NM_002181.3):c.482A>G (p.(Asn161Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884900" "0" "50" "2" "219922365" "219922365" "subst" "0" "01804" "IHH_000057" "g.219922365G>A" "" "" "" "IHH(NM_002181.3):c.367C>T (p.(Pro123Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884901" "0" "50" "2" "219924961" "219924961" "subst" "0.000789311" "01804" "IHH_000010" "g.219924961G>T" "" "" "" "IHH(NM_002181.3):c.229C>A (p.R77S, p.(Arg77Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884902" "0" "50" "2" "219924962" "219924962" "subst" "0.000789176" "01804" "IHH_000011" "g.219924962C>T" "" "" "" "IHH(NM_002181.3):c.228G>A (p.E76=, p.(Glu76=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884903" "0" "50" "2" "219925039" "219925039" "subst" "0" "01804" "IHH_000058" "g.219925039G>T" "" "" "" "IHH(NM_002181.3):c.151C>A (p.(Gln51Lys)), IHH(NM_002181.4):c.151C>A (p.Q51K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884904" "0" "30" "2" "219925153" "219925153" "subst" "1.46229E-5" "01804" "IHH_000059" "g.219925153A>G" "" "" "" "IHH(NM_002181.3):c.37T>C (p.(Cys13Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911588" "0" "50" "2" "219920119" "219920119" "subst" "2.46638E-5" "01804" "IHH_000060" "g.219920119G>A" "" "" "" "IHH(NM_002181.3):c.1046C>T (p.(Ala349Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911589" "0" "30" "2" "219920229" "219920229" "subst" "7.88179E-5" "01804" "IHH_000061" "g.219920229C>A" "" "" "" "IHH(NM_002181.3):c.936G>T (p.(Leu312=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911590" "0" "30" "2" "219922342" "219922342" "subst" "0" "01804" "IHH_000062" "g.219922342G>C" "" "" "" "IHH(NM_002181.3):c.390C>G (p.(Thr130=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911591" "0" "50" "2" "219922404" "219922404" "subst" "4.13056E-6" "01804" "IHH_000063" "g.219922404G>C" "" "" "" "IHH(NM_002181.3):c.328C>G (p.(Arg110Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923620" "0" "30" "2" "219920178" "219920178" "subst" "1.23524E-5" "01804" "IHH_000064" "g.219920178G>A" "" "" "" "IHH(NM_002181.3):c.987C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923621" "0" "30" "2" "219920197" "219920197" "subst" "0" "01804" "IHH_000065" "g.219920197T>C" "" "" "" "IHH(NM_002181.3):c.968A>G (p.(His323Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923622" "0" "50" "2" "219920470" "219920470" "subst" "0" "01804" "IHH_000066" "g.219920470A>G" "" "" "" "IHH(NM_002181.3):c.695T>C (p.(Met232Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923623" "0" "50" "2" "219925039" "219925039" "subst" "0" "02329" "IHH_000058" "g.219925039G>T" "" "" "" "IHH(NM_002181.3):c.151C>A (p.(Gln51Lys)), IHH(NM_002181.4):c.151C>A (p.Q51K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928530" "0" "30" "2" "219920471" "219920471" "subst" "4.06666E-6" "01804" "IHH_000067" "g.219920471T>C" "" "" "" "IHH(NM_002181.3):c.694A>G (p.(Met232Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928531" "0" "30" "2" "219922213" "219922213" "subst" "7.82376E-5" "01804" "IHH_000068" "g.219922213G>C" "" "" "" "IHH(NM_002181.3):c.519C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928532" "0" "50" "2" "219925119" "219925119" "subst" "0" "01804" "IHH_000069" "g.219925119G>T" "" "" "" "IHH(NM_002181.3):c.71C>A (p.(Ala24Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947757" "0" "50" "2" "219920219" "219920219" "subst" "1.24117E-5" "02325" "IHH_000070" "g.219920219G>A" "" "" "" "IHH(NM_002181.4):c.946C>T (p.R316C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947758" "0" "30" "2" "219920419" "219920419" "subst" "1.21983E-5" "01804" "IHH_000071" "g.219920419C>T" "" "" "" "IHH(NM_002181.3):c.746G>A (p.(Arg249His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961894" "0" "50" "2" "219920288" "219920288" "subst" "4.11066E-6" "01804" "IHH_000072" "g.219920288T>C" "" "" "" "IHH(NM_002181.3):c.877A>G (p.(Thr293Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961895" "0" "50" "2" "219922278" "219922278" "subst" "0" "02327" "IHH_000073" "g.219922278C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961896" "0" "70" "2" "219925039" "219925039" "subst" "0" "01804" "IHH_000074" "g.219925039G>A" "" "" "" "IHH(NM_002181.3):c.151C>T (p.(Gln51Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000974981" "0" "50" "2" "219919996" "219919996" "subst" "0.00016775" "01804" "IHH_000075" "g.219919996C>T" "" "" "" "IHH(NM_002181.3):c.1169G>A (p.(Arg390His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974982" "0" "30" "2" "219920114" "219920114" "subst" "0.000419356" "01804" "IHH_000076" "g.219920114C>T" "" "" "" "IHH(NM_002181.3):c.1051G>A (p.(Val351Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974983" "0" "30" "2" "219920240" "219920240" "subst" "2.48248E-5" "01804" "IHH_000077" "g.219920240C>T" "" "" "" "IHH(NM_002181.3):c.925G>A (p.(Val309Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974984" "0" "50" "2" "219920515" "219920515" "subst" "4.901E-5" "01804" "IHH_000078" "g.219920515C>T" "" "" "" "IHH(NM_002181.3):c.650G>A (p.(Arg217His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974985" "0" "50" "2" "219922329" "219922329" "subst" "0" "02327" "IHH_000079" "g.219922329C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992516" "0" "30" "2" "219920307" "219920307" "subst" "0.000335293" "01804" "IHH_000080" "g.219920307C>T" "" "" "" "IHH(NM_002181.3):c.858G>A (p.(Pro286=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992517" "0" "50" "2" "219920328" "219920328" "subst" "1.22201E-5" "01804" "IHH_000081" "g.219920328C>T" "" "" "" "IHH(NM_002181.3):c.837G>A (p.(Thr279=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992518" "0" "50" "2" "219920363" "219920363" "subst" "8.13743E-5" "02325" "IHH_000082" "g.219920363G>A" "" "" "" "IHH(NM_002181.4):c.802C>T (p.R268C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992519" "0" "30" "2" "219920519" "219920519" "subst" "1.22618E-5" "01804" "IHH_000083" "g.219920519C>T" "" "" "" "IHH(NM_002181.3):c.646G>A (p.(Ala216Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992520" "0" "30" "2" "219922135" "219922135" "subst" "0.000147063" "01804" "IHH_000084" "g.219922135G>A" "" "" "" "IHH(NM_002181.3):c.577+20C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992521" "0" "50" "2" "219922261" "219922261" "subst" "0" "01804" "IHH_000085" "g.219922261G>T" "" "" "" "IHH(NM_002181.3):c.471C>A (p.(Asp157Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992522" "0" "50" "2" "219925047" "219925047" "subst" "3.70337E-5" "01804" "IHH_000086" "g.219925047G>A" "" "" "" "IHH(NM_002181.3):c.143C>T (p.(Ala48Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992523" "0" "50" "2" "219925116" "219925116" "subst" "0" "01804" "IHH_000087" "g.219925116G>A" "" "" "" "IHH(NM_002181.3):c.74C>T (p.(Ala25Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013655" "0" "50" "2" "219920483" "219920483" "subst" "0" "01804" "IHH_000088" "g.219920483G>A" "" "" "" "IHH(NM_002181.3):c.682C>T (p.(Arg228Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013656" "0" "50" "2" "219922380" "219922380" "subst" "0" "01804" "IHH_000089" "g.219922380C>A" "" "" "" "IHH(NM_002181.3):c.352G>T (p.(Val118Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013657" "0" "30" "2" "219922434" "219922434" "subst" "1.68762E-5" "01804" "IHH_000090" "g.219922434G>A" "" "" "" "IHH(NM_002181.3):c.316-18C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013658" "0" "30" "2" "219924869" "219924869" "subst" "0" "01804" "IHH_000091" "g.219924869G>C" "" "" "" "IHH(NM_002181.3):c.315+6C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013659" "0" "50" "2" "219924998" "219924998" "subst" "0" "02325" "IHH_000092" "g.219924998G>C" "" "" "" "IHH(NM_002181.4):c.192C>G (p.S64R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020218" "3" "70" "2" "219920147" "219920147" "subst" "0" "04787" "IHH_000093" "g.219920147C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.219055425C>T" "" "likely pathogenic (recessive)" "ACMG" "0001024525" "0" "50" "2" "219919942" "219919942" "subst" "0" "01804" "IHH_000094" "g.219919942C>A" "" "" "" "IHH(NM_002181.3):c.1223G>T (p.(Gly408Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024526" "0" "50" "2" "219920216" "219920216" "subst" "4.1377E-6" "01804" "IHH_000095" "g.219920216C>T" "" "" "" "IHH(NM_002181.3):c.949G>A (p.(Val317Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024527" "0" "30" "2" "219920517" "219920517" "subst" "9.8048E-5" "01804" "IHH_000096" "g.219920517C>T" "" "" "" "IHH(NM_002181.3):c.648G>A (p.(Ala216=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024528" "0" "50" "2" "219922364" "219922364" "subst" "0" "02327" "IHH_000047" "g.219922364G>A" "" "" "" "IHH(NM_002181.3):c.368C>T (p.(Pro123Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030020" "0" "50" "2" "219922163" "219922165" "del" "0" "03779" "IHH_000097" "g.219922163_219922165del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001032990" "0" "50" "2" "219919989" "219919989" "subst" "0" "01804" "IHH_000098" "g.219919989C>T" "" "" "" "IHH(NM_002181.3):c.1176G>A (p.(Gly392=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032991" "0" "50" "2" "219920092" "219920092" "subst" "0" "01804" "IHH_000099" "g.219920092T>A" "" "" "" "IHH(NM_002181.4):c.1073A>T (p.(Gln358Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032992" "0" "50" "2" "219920482" "219920482" "subst" "8.13789E-6" "01804" "IHH_000100" "g.219920482C>T" "" "" "" "IHH(NM_002181.4):c.683G>A (p.(Arg228His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032993" "0" "50" "2" "219922161" "219922161" "subst" "0" "01804" "IHH_000101" "g.219922161T>C" "" "" "" "IHH(NM_002181.3):c.571A>G (p.(Lys191Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032994" "0" "50" "2" "219925122" "219925122" "subst" "0" "02325" "IHH_000102" "g.219925122G>A" "" "" "" "IHH(NM_002181.4):c.68C>T (p.P23L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045808" "0" "50" "2" "219920362" "219920362" "subst" "1.22119E-5" "01804" "IHH_000103" "g.219920362C>T" "" "" "" "IHH(NM_002181.3):c.803G>A (p.(Arg268His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045809" "0" "50" "2" "219922167" "219922167" "subst" "0" "01804" "IHH_000104" "g.219922167A>G" "" "" "" "IHH(NM_002181.3):c.565T>C (p.(Ser189Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048169" "0" "50" "2" "219920308" "219920308" "subst" "0.00110727" "00006" "IHH_000015" "g.219920308G>A" "" "{PMID:Plachy 2019:30753492}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.219055586G>A" "" "VUS" "" "0001048194" "0" "50" "2" "219919996" "219919996" "subst" "0.00016775" "00006" "IHH_000075" "g.219919996C>T" "" "{PMID:Plachy 2019:30753492}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.219055274C>T" "" "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 IHH ## Count = 120 "{{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}}" "0000247939" "00009908" "10" "1128" "0" "1128" "0" "c.1128=" "r.(=)" "p.(Thr376=)" "" "0000247940" "00009908" "10" "753" "0" "753" "0" "c.753T>C" "r.(?)" "p.(Pro251=)" "" "0000253200" "00009908" "10" "1128" "0" "1128" "0" "c.1128=" "r.(=)" "p.(Thr376=)" "" "0000253201" "00009908" "10" "753" "0" "753" "0" "c.753T>C" "r.(?)" "p.(Pro251=)" "" "0000289537" "00009908" "50" "188" "0" "188" "0" "c.188C>G" "r.(?)" "p.(Ala63Gly)" "" "0000289538" "00009908" "30" "228" "0" "228" "0" "c.228G>A" "r.(?)" "p.(Glu76=)" "" "0000289539" "00009908" "50" "229" "0" "229" "0" "c.229C>A" "r.(?)" "p.(Arg77Ser)" "" "0000289540" "00009908" "50" "275" "0" "275" "0" "c.275A>T" "r.(?)" "p.(Lys92Met)" "" "0000289541" "00009908" "90" "283" "0" "285" "0" "c.283_285del" "r.(?)" "p.(Glu95del)" "" "0000289542" "00009908" "10" "315" "8" "315" "8" "c.315+8C>T" "r.(=)" "p.(=)" "" "0000289543" "00009908" "50" "428" "0" "428" "0" "c.428C>A" "r.(?)" "p.(Ser143Tyr)" "" "0000289544" "00009908" "10" "600" "0" "600" "0" "c.600G>A" "r.(?)" "p.(Thr200=)" "" "0000289545" "00009908" "10" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Ala206=)" "" "0000350253" "00009908" "70" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Val118Met)" "" "0000514676" "00009908" "30" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Arg291=)" "" "0000514677" "00009908" "30" "857" "0" "857" "0" "c.857C>T" "r.(?)" "p.(Pro286Leu)" "" "0000514678" "00009908" "30" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Thr279Met)" "" "0000514679" "00009908" "90" "383" "0" "383" "0" "c.383G>T" "r.(?)" "p.(Arg128Leu)" "" "0000514680" "00009908" "50" "320" "0" "320" "0" "c.320G>T" "r.(?)" "p.(Cys107Phe)" "" "0000514681" "00009908" "30" "315" "8" "315" "8" "c.315+8C>T" "r.(=)" "p.(=)" "" "0000607501" "00009908" "30" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Thr279Met)" "" "0000607502" "00009908" "50" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Leu277Phe)" "" "0000607503" "00009908" "90" "283" "0" "285" "0" "c.283_285del" "r.(?)" "p.(Glu95del)" "" "0000653351" "00009908" "70" "299" "0" "299" "0" "c.299A>G" "r.(?)" "p.(Asp100Gly)" "1" "0000676515" "00009908" "30" "755" "0" "755" "0" "c.755A>G" "r.(?)" "p.(His252Arg)" "" "0000676516" "00009908" "30" "733" "0" "733" "0" "c.733A>G" "r.(?)" "p.(Ile245Val)" "" "0000676517" "00009908" "30" "457" "0" "457" "0" "c.457A>T" "r.(?)" "p.(Ile153Phe)" "" "0000718500" "00009908" "90" "569" "0" "569" "0" "c.569T>C" "r.(?)" "p.(Val190Ala)" "" "0000718501" "00009908" "50" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Arg128Trp)" "" "0000718502" "00009908" "90" "283" "0" "285" "0" "c.283_285del" "r.(?)" "p.(Glu95del)" "" "0000718503" "00009908" "50" "128" "0" "128" "0" "c.128A>G" "r.(?)" "p.(Lys43Arg)" "" "0000729994" "00009908" "90" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Val118Met)" "" "0000800392" "00009908" "50" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Leu277Phe)" "" "0000800393" "00009908" "30" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Glu261Lys)" "" "0000800394" "00009908" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Ala197Thr)" "" "0000800395" "00009908" "30" "207" "0" "207" "0" "c.207C>A" "r.(?)" "p.(Gly69=)" "" "0000842555" "00009908" "70" "308" "0" "308" "0" "c.308T>A" "r.(?)" "p.(Met103Lys)" "" "0000849735" "00009908" "30" "857" "0" "857" "0" "c.857C>T" "r.(?)" "p.(Pro286Leu)" "" "0000858331" "00009908" "30" "1197" "0" "1197" "0" "c.1197C>A" "r.(?)" "p.(Gly399=)" "" "0000858332" "00009908" "30" "1194" "0" "1194" "0" "c.1194G>C" "r.(?)" "p.(Glu398Asp)" "" "0000858333" "00009908" "50" "992" "0" "992" "0" "c.992C>T" "r.(?)" "p.(Pro331Leu)" "" "0000858334" "00009908" "30" "969" "0" "969" "0" "c.969C>T" "r.(?)" "p.(His323=)" "" "0000858335" "00009908" "50" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Val304Met)" "" "0000858336" "00009908" "30" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Arg291=)" "" "0000858337" "00009908" "50" "866" "0" "866" "0" "c.866G>A" "r.(?)" "p.(Arg289His)" "" "0000858338" "00009908" "30" "819" "0" "819" "0" "c.819C>T" "r.(?)" "p.(Pro273=)" "" "0000858339" "00009908" "30" "816" "0" "816" "0" "c.816A>G" "r.(?)" "p.(Thr272=)" "" "0000858340" "00009908" "30" "726" "0" "726" "0" "c.726T>C" "r.(?)" "p.(Asp242=)" "" "0000858341" "00009908" "30" "702" "0" "702" "0" "c.702G>A" "r.(?)" "p.(Glu234=)" "" "0000858342" "00009908" "50" "662" "0" "662" "0" "c.662C>T" "r.(?)" "p.(Ser221Leu)" "" "0000858343" "00009908" "30" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Ala216Val)" "" "0000858344" "00009908" "30" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Ala206=)" "" "0000858345" "00009908" "30" "603" "0" "603" "0" "c.603C>T" "r.(?)" "p.(Gly201=)" "" "0000858346" "00009908" "30" "585" "0" "585" "0" "c.585G>A" "r.(?)" "p.(Ser195=)" "" "0000858347" "00009908" "50" "486" "0" "486" "0" "c.486G>T" "r.(?)" "p.(Lys162Asn)" "" "0000858348" "00009908" "70" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(His145Tyr)" "" "0000858349" "00009908" "50" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Pro123Leu)" "" "0000858350" "00009908" "30" "316" "-13" "316" "-10" "c.316-13_316-10del" "r.(=)" "p.(=)" "" "0000858351" "00009908" "50" "314" "0" "314" "0" "c.314A>T" "r.(?)" "p.(Gln105Leu)" "" "0000858352" "00009908" "50" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Thr82Ile)" "" "0000880045" "00009908" "70" "298" "0" "298" "0" "c.298G>C" "r.(?)" "p.(Asp100His)" "" "0000884895" "00009908" "30" "1130" "0" "1130" "0" "c.1130C>T" "r.(?)" "p.(Pro377Leu)" "" "0000884896" "00009908" "30" "1002" "0" "1002" "0" "c.1002G>C" "r.(?)" "p.(Lys334Asn)" "" "0000884897" "00009908" "50" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Pro225Leu)" "" "0000884898" "00009908" "50" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "" "0000884899" "00009908" "50" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(Asn161Ser)" "" "0000884900" "00009908" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Pro123Ser)" "" "0000884901" "00009908" "50" "229" "0" "229" "0" "c.229C>A" "r.(?)" "p.(Arg77Ser)" "" "0000884902" "00009908" "50" "228" "0" "228" "0" "c.228G>A" "r.(?)" "p.(Glu76=)" "" "0000884903" "00009908" "50" "151" "0" "151" "0" "c.151C>A" "r.(?)" "p.(Gln51Lys)" "" "0000884904" "00009908" "30" "37" "0" "37" "0" "c.37T>C" "r.(?)" "p.(Cys13Arg)" "" "0000911588" "00009908" "50" "1046" "0" "1046" "0" "c.1046C>T" "r.(?)" "p.(Ala349Val)" "" "0000911589" "00009908" "30" "936" "0" "936" "0" "c.936G>T" "r.(?)" "p.(Leu312=)" "" "0000911590" "00009908" "30" "390" "0" "390" "0" "c.390C>G" "r.(?)" "p.(Thr130=)" "" "0000911591" "00009908" "50" "328" "0" "328" "0" "c.328C>G" "r.(?)" "p.(Arg110Gly)" "" "0000923620" "00009908" "30" "987" "0" "987" "0" "c.987C>T" "r.(?)" "p.(Tyr329=)" "" "0000923621" "00009908" "30" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(His323Arg)" "" "0000923622" "00009908" "50" "695" "0" "695" "0" "c.695T>C" "r.(?)" "p.(Met232Thr)" "" "0000923623" "00009908" "50" "151" "0" "151" "0" "c.151C>A" "r.(?)" "p.(Gln51Lys)" "" "0000928530" "00009908" "30" "694" "0" "694" "0" "c.694A>G" "r.(?)" "p.(Met232Val)" "" "0000928531" "00009908" "30" "519" "0" "519" "0" "c.519C>G" "r.(?)" "p.(=)" "" "0000928532" "00009908" "50" "71" "0" "71" "0" "c.71C>A" "r.(?)" "p.(Ala24Glu)" "" "0000947757" "00009908" "50" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Arg316Cys)" "" "0000947758" "00009908" "30" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Arg249His)" "" "0000961894" "00009908" "50" "877" "0" "877" "0" "c.877A>G" "r.(?)" "p.(Thr293Ala)" "" "0000961895" "00009908" "50" "454" "0" "454" "0" "c.454G>T" "r.(?)" "p.(Asp152Tyr)" "" "0000961896" "00009908" "70" "151" "0" "151" "0" "c.151C>T" "r.(?)" "p.(Gln51*)" "" "0000974981" "00009908" "50" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "" "0000974982" "00009908" "30" "1051" "0" "1051" "0" "c.1051G>A" "r.(?)" "p.(Val351Met)" "" "0000974983" "00009908" "30" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Val309Met)" "" "0000974984" "00009908" "50" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217His)" "" "0000974985" "00009908" "50" "403" "0" "403" "0" "c.403G>T" "r.(?)" "p.(Glu135*)" "" "0000992516" "00009908" "30" "858" "0" "858" "0" "c.858G>A" "r.(?)" "p.(=)" "" "0000992517" "00009908" "50" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(=)" "" "0000992518" "00009908" "50" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Cys)" "" "0000992519" "00009908" "30" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Ala216Thr)" "" "0000992520" "00009908" "30" "577" "20" "577" "20" "c.577+20C>T" "r.(=)" "p.(=)" "" "0000992521" "00009908" "50" "471" "0" "471" "0" "c.471C>A" "r.(?)" "p.(Asp157Glu)" "" "0000992522" "00009908" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ala48Val)" "" "0000992523" "00009908" "50" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Ala25Val)" "" "0001013655" "00009908" "50" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "" "0001013656" "00009908" "50" "352" "0" "352" "0" "c.352G>T" "r.(?)" "p.(Val118Leu)" "" "0001013657" "00009908" "30" "316" "-18" "316" "-18" "c.316-18C>T" "r.(=)" "p.(=)" "" "0001013658" "00009908" "30" "315" "6" "315" "6" "c.315+6C>G" "r.(=)" "p.(=)" "" "0001013659" "00009908" "50" "192" "0" "192" "0" "c.192C>G" "r.(?)" "p.(Ser64Arg)" "" "0001020218" "00009908" "70" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Val340Met)" "3" "0001024525" "00009908" "50" "1223" "0" "1223" "0" "c.1223G>T" "r.(?)" "p.(Gly408Val)" "" "0001024526" "00009908" "50" "949" "0" "949" "0" "c.949G>A" "r.(?)" "p.(Val317Met)" "" "0001024527" "00009908" "30" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(=)" "" "0001024528" "00009908" "50" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Pro123Leu)" "" "0001030020" "00009908" "50" "568" "0" "570" "0" "c.568_570del" "r.(?)" "p.(Val190del)" "" "0001032990" "00009908" "50" "1176" "0" "1176" "0" "c.1176G>A" "r.(?)" "p.(=)" "" "0001032991" "00009908" "50" "1073" "0" "1073" "0" "c.1073A>T" "r.(?)" "p.(Gln358Leu)" "" "0001032992" "00009908" "50" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228His)" "" "0001032993" "00009908" "50" "571" "0" "571" "0" "c.571A>G" "r.(?)" "p.(Lys191Glu)" "" "0001032994" "00009908" "50" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Pro23Leu)" "" "0001045808" "00009908" "50" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Arg268His)" "" "0001045809" "00009908" "50" "565" "0" "565" "0" "c.565T>C" "r.(?)" "p.(Ser189Pro)" "" "0001048169" "00009908" "50" "857" "0" "857" "0" "c.857C>T" "r.(?)" "p.(Pro286Leu)" "" "0001048194" "00009908" "50" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000296660" "0000653351" "0000332712" "0000729994" "0000419873" "0000880045" "0000461110" "0001020218" "0000468347" "0001048169" "0000468358" "0001048194"