### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ACVR2B)
# 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}}"
"ACVR2B" "activin A receptor, type IIB" "3" "p22" "unknown" "NG_011791.1" "UD_132118448753" "" "https://www.LOVD.nl/ACVR2B" "" "1" "174" "93" "602730" "1" "1" "1" "1" "We gratefully acknowledge Aimée Paulussen for acting as a curator untill 2016.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-01-21 12:26:07" "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}}"
"00002051" "ACVR2B" "activin A receptor, type IIB" "001" "NM_001106.3" "" "NP_001097.2" "" "" "" "-24" "11349" "1539" "38495790" "38534633" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"03416" "HTX4" "heterotaxy, visceral, autosomal, type 4 (HTX-4, situs ambiguus)" "" "613751" "" "" "" "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}}"
"ACVR2B" "03416"
## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00293341" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00293341" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 03416
## Count = 0
## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000294509" "00293341" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
## 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 = 56
"{{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}}"
"0000246101" "0" "10" "3" "38519424" "38519424" "subst" "0.565359" "02330" "ACVR2B_000004" "g.38519424A>G" "" "" "" "ACVR2B(NM_001106.3):c.333A>G (p.E111=), ACVR2B(NM_001106.4):c.333A>G (p.E111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38477933A>G" "" "benign" ""
"0000247909" "0" "10" "3" "38519424" "38519424" "subst" "0.565359" "02325" "ACVR2B_000004" "g.38519424A>G" "" "" "" "ACVR2B(NM_001106.3):c.333A>G (p.E111=), ACVR2B(NM_001106.4):c.333A>G (p.E111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38477933A>G" "" "benign" ""
"0000253170" "0" "10" "3" "38519424" "38519424" "subst" "0.565359" "01943" "ACVR2B_000004" "g.38519424A>G" "" "" "" "ACVR2B(NM_001106.3):c.333A>G (p.E111=), ACVR2B(NM_001106.4):c.333A>G (p.E111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38477933A>G" "" "benign" ""
"0000257307" "0" "10" "3" "38524742" "38524742" "subst" "0.478538" "02330" "ACVR2B_000013" "g.38524742C>T" "" "" "" "ACVR2B(NM_001106.3):c.1458C>T (p.N486=), ACVR2B(NM_001106.4):c.1458C>T (p.N486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38483251C>T" "" "benign" ""
"0000257308" "0" "10" "3" "38521156" "38521156" "subst" "0.479154" "02330" "ACVR2B_000007" "g.38521156T>C" "" "" "" "ACVR2B(NM_001106.3):c.811-13T>C, ACVR2B(NM_001106.4):c.811-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38479665T>C" "" "benign" ""
"0000258722" "0" "10" "3" "38524742" "38524742" "subst" "0.478538" "02325" "ACVR2B_000013" "g.38524742C>T" "" "" "" "ACVR2B(NM_001106.3):c.1458C>T (p.N486=), ACVR2B(NM_001106.4):c.1458C>T (p.N486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38483251C>T" "" "benign" ""
"0000258723" "0" "10" "3" "38521156" "38521156" "subst" "0.479154" "02325" "ACVR2B_000007" "g.38521156T>C" "" "" "" "ACVR2B(NM_001106.3):c.811-13T>C, ACVR2B(NM_001106.4):c.811-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38479665T>C" "" "benign" ""
"0000260542" "0" "30" "3" "38523684" "38523684" "subst" "0.00670555" "02326" "ACVR2B_000009" "g.38523684C>T" "" "" "" "ACVR2B(NM_001106.3):c.1075-5C>T (p.?), ACVR2B(NM_001106.4):c.1075-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38482193C>T" "" "likely benign" ""
"0000260543" "0" "10" "3" "38524058" "38524058" "subst" "0.00319961" "02326" "ACVR2B_000011" "g.38524058G>T" "" "" "" "ACVR2B(NM_001106.3):c.1344+7G>T, ACVR2B(NM_001106.4):c.1344+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38482567G>T" "" "benign" ""
"0000260544" "0" "50" "3" "38524697" "38524697" "subst" "8.12143E-6" "02326" "ACVR2B_000012" "g.38524697G>A" "" "" "" "ACVR2B(NM_001106.4):c.1413G>A (p.A471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38483206G>A" "" "VUS" ""
"0000260545" "0" "10" "3" "38521157" "38521157" "subst" "0.00316391" "02326" "ACVR2B_000008" "g.38521157G>A" "" "" "" "ACVR2B(NM_001106.3):c.811-12G>A, ACVR2B(NM_001106.4):c.811-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38479666G>A" "" "benign" ""
"0000261933" "0" "10" "3" "38523684" "38523684" "subst" "0.00670555" "01943" "ACVR2B_000009" "g.38523684C>T" "" "" "" "ACVR2B(NM_001106.3):c.1075-5C>T (p.?), ACVR2B(NM_001106.4):c.1075-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38482193C>T" "" "benign" ""
"0000261934" "0" "10" "3" "38524058" "38524058" "subst" "0.00319961" "01943" "ACVR2B_000011" "g.38524058G>T" "" "" "" "ACVR2B(NM_001106.3):c.1344+7G>T, ACVR2B(NM_001106.4):c.1344+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38482567G>T" "" "benign" ""
"0000261935" "0" "10" "3" "38524742" "38524742" "subst" "0.478538" "01943" "ACVR2B_000013" "g.38524742C>T" "" "" "" "ACVR2B(NM_001106.3):c.1458C>T (p.N486=), ACVR2B(NM_001106.4):c.1458C>T (p.N486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38483251C>T" "" "benign" ""
"0000261936" "0" "30" "3" "38518872" "38518872" "subst" "0.00160901" "01943" "ACVR2B_000002" "g.38518872C>T" "" "" "" "ACVR2B(NM_001106.3):c.147C>T (p.C49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38477381C>T" "" "likely benign" ""
"0000261937" "0" "50" "3" "38519749" "38519749" "subst" "2.03194E-5" "01943" "ACVR2B_000005" "g.38519749G>A" "" "" "" "ACVR2B(NM_001106.3):c.488G>A (p.R163H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38478258G>A" "" "VUS" ""
"0000261938" "0" "30" "3" "38521157" "38521157" "subst" "0.00316391" "01943" "ACVR2B_000008" "g.38521157G>A" "" "" "" "ACVR2B(NM_001106.3):c.811-12G>A, ACVR2B(NM_001106.4):c.811-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38479666G>A" "" "likely benign" ""
"0000261939" "0" "10" "3" "38521156" "38521156" "subst" "0.479154" "01943" "ACVR2B_000007" "g.38521156T>C" "" "" "" "ACVR2B(NM_001106.3):c.811-13T>C, ACVR2B(NM_001106.4):c.811-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38479665T>C" "" "benign" ""
"0000329316" "0" "30" "3" "38518844" "38518844" "subst" "0.00110106" "01804" "ACVR2B_000001" "g.38518844G>A" "" "" "" "ACVR2B(NM_001106.3):c.119G>A (p.(Arg40His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38477353G>A" "" "likely benign" ""
"0000329318" "0" "30" "3" "38520014" "38520014" "subst" "0.00173134" "01804" "ACVR2B_000006" "g.38520014G>A" "" "" "" "ACVR2B(NM_001106.3):c.666+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38478523G>A" "" "likely benign" ""
"0000519211" "0" "10" "3" "38496065" "38496065" "subst" "0" "02327" "ACVR2B_000014" "g.38496065C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38454574C>T" "" "benign" ""
"0000519212" "0" "30" "3" "38518936" "38518936" "subst" "0" "02327" "ACVR2B_000015" "g.38518936G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38477445G>A" "" "likely benign" ""
"0000519213" "0" "10" "3" "38519424" "38519424" "subst" "0.565359" "02327" "ACVR2B_000004" "g.38519424A>G" "" "" "" "ACVR2B(NM_001106.3):c.333A>G (p.E111=), ACVR2B(NM_001106.4):c.333A>G (p.E111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38477933A>G" "" "benign" ""
"0000519214" "0" "30" "3" "38519629" "38519629" "subst" "4.8968E-5" "02327" "ACVR2B_000016" "g.38519629C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38478138C>T" "" "likely benign" ""
"0000519215" "0" "30" "3" "38519738" "38519738" "subst" "0" "02327" "ACVR2B_000017" "g.38519738G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38478247G>A" "" "likely benign" ""
"0000519216" "0" "50" "3" "38519775" "38519775" "subst" "0" "02327" "ACVR2B_000018" "g.38519775A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38478284A>C" "" "VUS" ""
"0000519217" "0" "30" "3" "38521144" "38521144" "subst" "0.00010561" "02327" "ACVR2B_000019" "g.38521144C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38479653C>T" "" "likely benign" ""
"0000519218" "0" "10" "3" "38521156" "38521156" "subst" "0.479154" "02327" "ACVR2B_000007" "g.38521156T>C" "" "" "" "ACVR2B(NM_001106.3):c.811-13T>C, ACVR2B(NM_001106.4):c.811-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38479665T>C" "" "benign" ""
"0000519219" "0" "10" "3" "38521157" "38521157" "subst" "0.00316391" "02327" "ACVR2B_000008" "g.38521157G>A" "" "" "" "ACVR2B(NM_001106.3):c.811-12G>A, ACVR2B(NM_001106.4):c.811-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38479666G>A" "" "benign" ""
"0000519220" "0" "50" "3" "38521283" "38521283" "subst" "1.2197E-5" "02327" "ACVR2B_000020" "g.38521283C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38479792C>T" "" "VUS" ""
"0000519221" "0" "50" "3" "38523679" "38523679" "subst" "0" "02327" "ACVR2B_000021" "g.38523679C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38482188C>T" "" "VUS" ""
"0000519222" "0" "30" "3" "38523684" "38523684" "subst" "0.00670555" "01804" "ACVR2B_000009" "g.38523684C>T" "" "" "" "ACVR2B(NM_001106.3):c.1075-5C>T (p.?), ACVR2B(NM_001106.4):c.1075-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38482193C>T" "" "likely benign" ""
"0000519223" "0" "30" "3" "38523976" "38523976" "subst" "0.000130277" "02326" "ACVR2B_000022" "g.38523976G>A" "" "" "" "ACVR2B(NM_001106.4):c.1269G>A (p.S423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38482485G>A" "" "likely benign" ""
"0000519224" "0" "30" "3" "38524086" "38524086" "subst" "0.00476617" "02327" "ACVR2B_000023" "g.38524086G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38482595G>A" "" "likely benign" ""
"0000519225" "0" "10" "3" "38524742" "38524742" "subst" "0.478538" "02327" "ACVR2B_000013" "g.38524742C>T" "" "" "" "ACVR2B(NM_001106.3):c.1458C>T (p.N486=), ACVR2B(NM_001106.4):c.1458C>T (p.N486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38483251C>T" "" "benign" ""
"0000519226" "0" "10" "3" "38524838" "38524838" "subst" "0.0016447" "02327" "ACVR2B_000024" "g.38524838T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38483347T>C" "" "benign" ""
"0000519227" "0" "30" "3" "38539113" "38539117" "dup" "0" "01804" "ACVR2B_000025" "g.38539113_38539117dup" "" "" "" "EXOG(NM_005107.3):c.164-8_164-7insTTTTT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38497622_38497626dup" "" "likely benign" ""
"0000519229" "0" "30" "3" "38539118" "38539118" "subst" "0" "01804" "ACVR2B_000027" "g.38539118A>T" "" "" "" "EXOG(NM_005107.3):c.164-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38497627A>T" "" "likely benign" ""
"0000608534" "0" "30" "3" "38495819" "38495819" "subst" "0" "02327" "ACVR2B_000029" "g.38495819G>C" "" "" "" "ACVR2B(NM_001106.4):c.6G>C (p.T2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38454328G>C" "" "likely benign" ""
"0000608535" "0" "30" "3" "38518815" "38518815" "subst" "2.03102E-5" "02327" "ACVR2B_000030" "g.38518815C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38477324C>A" "" "likely benign" ""
"0000608536" "0" "30" "3" "38524694" "38524694" "subst" "0.000276142" "02327" "ACVR2B_000031" "g.38524694C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38483203C>T" "" "likely benign" ""
"0000651198" "1" "30" "3" "38530996" "38530996" "subst" "0" "03575" "ACVR2B_000032" "g.38530996A>C" "9/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs76892072}" "Germline" "" "rs76892072" "0" "" "" "g.38489505A>C" "" "likely benign" ""
"0000654887" "0" "50" "3" "38519942" "38519942" "subst" "8.12334E-6" "01943" "ACVR2B_000033" "g.38519942G>A" "" "" "" "ACVR2B(NM_001106.3):c.599G>A (p.R200H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38478451G>A" "" "VUS" ""
"0000689058" "0" "30" "3" "38524814" "38524814" "subst" "1.21821E-5" "02326" "ACVR2B_000034" "g.38524814A>G" "" "" "" "ACVR2B(NM_001106.4):c.1530A>G (p.S510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000801181" "0" "30" "3" "38495819" "38495819" "subst" "0" "02326" "ACVR2B_000029" "g.38495819G>C" "" "" "" "ACVR2B(NM_001106.4):c.6G>C (p.T2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000858991" "0" "30" "3" "38518894" "38518894" "subst" "4.06253E-6" "01943" "ACVR2B_000035" "g.38518894C>A" "" "" "" "ACVR2B(NM_001106.3):c.169C>A (p.L57M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000858992" "0" "50" "3" "38519456" "38519456" "subst" "1.22163E-5" "01943" "ACVR2B_000036" "g.38519456C>T" "" "" "" "ACVR2B(NM_001106.3):c.365C>T (p.P122L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000885758" "0" "50" "3" "38519742" "38519742" "subst" "8.12585E-6" "02325" "ACVR2B_000037" "g.38519742C>T" "" "" "" "ACVR2B(NM_001106.4):c.481C>T (p.R161W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000975770" "0" "50" "3" "38519890" "38519890" "subst" "4.06349E-6" "01804" "ACVR2B_000038" "g.38519890C>T" "" "" "" "ACVR2B(NM_001106.4):c.547C>T (p.(Pro183Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000975771" "0" "50" "3" "38521302" "38521302" "subst" "4.07206E-6" "01804" "ACVR2B_000039" "g.38521302C>T" "" "" "" "ACVR2B(NM_001106.3):c.944C>T (p.(Pro315Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000993600" "0" "50" "3" "38518984" "38518984" "del" "0" "01804" "ACVR2B_000040" "g.38518984del" "" "" "" "ACVR2B(NM_001106.3):c.259delA (p.(Arg87fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000993601" "0" "30" "3" "38519466" "38519466" "subst" "0" "02325" "ACVR2B_000041" "g.38519466G>T" "" "" "" "ACVR2B(NM_001106.4):c.370+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000993602" "0" "50" "3" "38520011" "38520011" "subst" "4.06355E-6" "01804" "ACVR2B_000042" "g.38520011T>G" "" "" "" "ACVR2B(NM_001106.3):c.666+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000993603" "0" "50" "3" "38524731" "38524731" "subst" "0" "01804" "ACVR2B_000043" "g.38524731A>G" "" "" "" "ACVR2B(NM_001106.3):c.1447A>G (p.(Arg483Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001033926" "0" "30" "3" "38519467" "38519467" "subst" "0" "01804" "ACVR2B_000044" "g.38519467G>C" "" "" "" "ACVR2B(NM_001106.4):c.370+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001033927" "0" "30" "3" "38524736" "38524736" "subst" "0.000113698" "01804" "ACVR2B_000045" "g.38524736G>A" "" "" "" "ACVR2B(NM_001106.4):c.1452G>A (p.(Ser484=))" "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 ACVR2B
## Count = 56
"{{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}}" "{{VariantOnTranscript/Variant/Type}}"
"0000246101" "00002051" "10" "333" "0" "333" "0" "c.333A>G" "r.(?)" "p.(Glu111=)" "" ""
"0000247909" "00002051" "10" "333" "0" "333" "0" "c.333A>G" "r.(?)" "p.(Glu111=)" "" ""
"0000253170" "00002051" "10" "333" "0" "333" "0" "c.333A>G" "r.(?)" "p.(Glu111=)" "" ""
"0000257307" "00002051" "10" "1458" "0" "1458" "0" "c.1458C>T" "r.(?)" "p.(Asn486=)" "" ""
"0000257308" "00002051" "10" "811" "-13" "811" "-13" "c.811-13T>C" "r.(=)" "p.(=)" "" ""
"0000258722" "00002051" "10" "1458" "0" "1458" "0" "c.1458C>T" "r.(?)" "p.(Asn486=)" "" ""
"0000258723" "00002051" "10" "811" "-13" "811" "-13" "c.811-13T>C" "r.(=)" "p.(=)" "" ""
"0000260542" "00002051" "30" "1075" "-5" "1075" "-5" "c.1075-5C>T" "r.spl?" "p.?" "" ""
"0000260543" "00002051" "10" "1344" "7" "1344" "7" "c.1344+7G>T" "r.(=)" "p.(=)" "" ""
"0000260544" "00002051" "50" "1413" "0" "1413" "0" "c.1413G>A" "r.(?)" "p.(Ala471=)" "" ""
"0000260545" "00002051" "10" "811" "-12" "811" "-12" "c.811-12G>A" "r.(=)" "p.(=)" "" ""
"0000261933" "00002051" "10" "1075" "-5" "1075" "-5" "c.1075-5C>T" "r.spl?" "p.?" "" ""
"0000261934" "00002051" "10" "1344" "7" "1344" "7" "c.1344+7G>T" "r.(=)" "p.(=)" "" ""
"0000261935" "00002051" "10" "1458" "0" "1458" "0" "c.1458C>T" "r.(?)" "p.(Asn486=)" "" ""
"0000261936" "00002051" "30" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(Cys49=)" "" ""
"0000261937" "00002051" "50" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163His)" "" ""
"0000261938" "00002051" "30" "811" "-12" "811" "-12" "c.811-12G>A" "r.(=)" "p.(=)" "" ""
"0000261939" "00002051" "10" "811" "-13" "811" "-13" "c.811-13T>C" "r.(=)" "p.(=)" "" ""
"0000329316" "00002051" "30" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" ""
"0000329318" "00002051" "30" "666" "5" "666" "5" "c.666+5G>A" "r.spl?" "p.?" "" ""
"0000519211" "00002051" "10" "52" "200" "52" "200" "c.52+200C>T" "r.(=)" "p.(=)" "" ""
"0000519212" "00002051" "30" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Glu71Lys)" "" ""
"0000519213" "00002051" "10" "333" "0" "333" "0" "c.333A>G" "r.(?)" "p.(Glu111=)" "" ""
"0000519214" "00002051" "30" "371" "-3" "371" "-3" "c.371-3C>T" "r.spl?" "p.?" "" ""
"0000519215" "00002051" "30" "477" "0" "477" "0" "c.477G>A" "r.(?)" "p.(Met159Ile)" "" ""
"0000519216" "00002051" "50" "514" "0" "514" "0" "c.514A>C" "r.(?)" "p.(Ile172Leu)" "" ""
"0000519217" "00002051" "30" "811" "-25" "811" "-25" "c.811-25C>T" "r.(=)" "p.(=)" "" ""
"0000519218" "00002051" "10" "811" "-13" "811" "-13" "c.811-13T>C" "r.(=)" "p.(=)" "" ""
"0000519219" "00002051" "10" "811" "-12" "811" "-12" "c.811-12G>A" "r.(=)" "p.(=)" "" ""
"0000519220" "00002051" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "" ""
"0000519221" "00002051" "50" "1075" "-10" "1075" "-10" "c.1075-10C>T" "r.(=)" "p.(=)" "" ""
"0000519222" "00002051" "30" "1075" "-5" "1075" "-5" "c.1075-5C>T" "r.spl?" "p.?" "" ""
"0000519223" "00002051" "30" "1269" "0" "1269" "0" "c.1269G>A" "r.(?)" "p.(Ser423=)" "" ""
"0000519224" "00002051" "30" "1344" "35" "1344" "35" "c.1344+35G>A" "r.(=)" "p.(=)" "" ""
"0000519225" "00002051" "10" "1458" "0" "1458" "0" "c.1458C>T" "r.(?)" "p.(Asn486=)" "" ""
"0000519226" "00002051" "10" "1554" "0" "1554" "0" "c.*15T>C" "r.(=)" "p.(=)" "" ""
"0000519227" "00002051" "30" "15829" "0" "15833" "0" "c.*14290_*14294dup" "r.(=)" "p.(=)" "" ""
"0000519229" "00002051" "30" "15834" "0" "15834" "0" "c.*14295A>T" "r.(=)" "p.(=)" "" ""
"0000608534" "00002051" "30" "6" "0" "6" "0" "c.6G>C" "r.(?)" "p.(Thr2=)" "" ""
"0000608535" "00002051" "30" "90" "0" "90" "0" "c.90C>A" "r.(?)" "p.(Ile30=)" "" ""
"0000608536" "00002051" "30" "1410" "0" "1410" "0" "c.1410C>T" "r.(?)" "p.(Ser470=)" "" ""
"0000651198" "00002051" "30" "7712" "0" "7712" "0" "c.*6173A>C" "r.(=)" "p.(=)" "" ""
"0000654887" "00002051" "50" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Arg200His)" "" ""
"0000689058" "00002051" "30" "1530" "0" "1530" "0" "c.1530A>G" "r.(?)" "p.(Ser510=)" "" ""
"0000801181" "00002051" "30" "6" "0" "6" "0" "c.6G>C" "r.(?)" "p.(Thr2=)" "" ""
"0000858991" "00002051" "30" "169" "0" "169" "0" "c.169C>A" "r.(?)" "p.(Leu57Met)" "" ""
"0000858992" "00002051" "50" "365" "0" "365" "0" "c.365C>T" "r.(?)" "p.(Pro122Leu)" "" ""
"0000885758" "00002051" "50" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Arg161Trp)" "" ""
"0000975770" "00002051" "50" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Pro183Ser)" "" ""
"0000975771" "00002051" "50" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Pro315Leu)" "" ""
"0000993600" "00002051" "50" "259" "0" "259" "0" "c.259del" "r.(?)" "p.(Arg87Glyfs*101)" "" ""
"0000993601" "00002051" "30" "370" "5" "370" "5" "c.370+5G>T" "r.spl?" "p.?" "" ""
"0000993602" "00002051" "50" "666" "2" "666" "2" "c.666+2T>G" "r.spl?" "p.?" "" ""
"0000993603" "00002051" "50" "1447" "0" "1447" "0" "c.1447A>G" "r.(?)" "p.(Arg483Gly)" "" ""
"0001033926" "00002051" "30" "370" "6" "370" "6" "c.370+6G>C" "r.(=)" "p.(=)" "" ""
"0001033927" "00002051" "30" "1452" "0" "1452" "0" "c.1452G>A" "r.(?)" "p.(=)" "" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{variantid}}"
"0000294509" "0000651198"