### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACVR1) # 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}}" "ACVR1" "activin A receptor, type I" "2" "q23-q24" "unknown" "NG_008004.1" "UD_132119063459" "" "https://www.LOVD.nl/ACVR1" "" "1" "171" "90" "102576" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/ACVR1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-04 14:07:44" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002047" "ACVR1" "transcript variant 1" "002" "NM_001105.4" "" "NP_001096.1" "" "" "" "-430" "2615" "1530" "158731623" "158592958" "" "0000-00-00 00:00:00" "" "" "00025660" "ACVR1" "transcript variant 2" "001" "NM_001111067.2" "" "NP_001104537.1" "" "" "" "-249" "2615" "1530" "158732374" "158592958" "00006" "2021-12-04 14:08:13" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00153" "AVSD" "septal defect, atrioventricular (AVSD)" "" "606215" "" "" "" "00008" "2013-06-19 09:52:14" "00006" "2015-12-08 23:54:35" "01330" "FOP" "fibrodysplasia ossificans progressiva (FOP)" "AD" "135100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04204" "ASD" "septal defect, atrial (ASD)" "" "" "" "" "" "00006" "2015-02-20 21:20:25" "00006" "2015-12-08 23:53:05" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ACVR1" "01330" ## Individuals ## Do not remove or alter this header ## ## Count = 159 "{{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}}" "00204342" "" "" "" "16" "" "00000" "" "" "" "-" "" "" "0" "" "" "" "" "00204346" "" "" "" "4" "" "00000" "{PMID:Feldman 2000:10631143}, {PMID:Shore 2006:16642017}" "3-generation family, 4 affected (2F, 2M)" "F" "" "United States" "" "0" "" "" "" "Fam1;FamA" "00204349" "" "" "" "1" "" "00000" "{PMID:Ratbi 2010:19795179}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "-" "Morocco" "" "0" "" "" "" "patient" "00204350" "" "" "" "5" "" "00000" "{PMID:Joziasse 2011:21248739}" "3-generation family, 1 affected" "M" "-" "Netherlands" "" "0" "" "" "" "FamPatIII2" "00204351" "" "" "" "1" "" "00000" "" "" "F" "-" "" "" "0" "" "" "" "" "00204352" "" "" "" "1" "" "00000" "" "" "F" "-" "El Salvador" "" "0" "" "" "" "" "00204356" "" "" "" "1" "" "00000" "{PMID:Carvalho 2010:19796185}" "" "F" "-" "Brazil" "" "0" "" "" "" "Pat17" "00204357" "" "" "" "1" "" "00000" "{PMID:Smith 2009:19506109}" "" "M" "-" "Netherlands" "" "0" "" "" "" "patient" "00331316" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "13DG2212" "00395244" "" "" "" "1" "" "01411" "{PMID:Hasegawa 2022:36060212}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Japan" "" "0" "" "" "" "patient" "00395245" "" "" "" "5" "" "00006" "{PMID:Feldman 2000:10631143}, {PMID:Shore 2006:16642017}" "3-generation family, 5 affected (4F, M)" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2;FamB" "00395246" "" "" "" "2" "" "00006" "{PMID:Feldman 2000:10631143}, {PMID:Shore 2006:16642017}" "2-generation family, affected father/daughter" "" "" "United States" "" "0" "" "" "" "Fam4;FamC" "00395247" "" "" "" "3" "" "00006" "{PMID:Shore 2006:16642017}" "2-generation family, affected father/2 daughters" "" "" "United States" "" "0" "" "" "" "FamD" "00395248" "" "" "" "3" "" "00006" "{PMID:Shore 2006:16642017}" "2-generation family, affected father/son/daughters" "" "" "United States" "" "0" "" "" "" "FamE" "00395249" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}" "family" "" "" "United States" "" "0" "" "" "" "FamF" "00395250" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}" "family" "" "" "United States" "" "0" "" "" "" "FamG" "00395251" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395252" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395253" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395254" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395255" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395256" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395257" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395258" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395259" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395260" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395261" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395262" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395263" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395264" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395265" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395266" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395267" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395268" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395269" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395270" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395271" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395272" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395273" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395274" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395275" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395276" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395277" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395278" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395279" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395280" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395281" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395282" "" "" "" "1" "" "00006" "{PMID:Shore 2006:16642017}, {PMID:Kaplan 2019:19085907}" "patient" "" "" "United States" "" "0" "" "" "" "patient" "00395283" "" "" "" "1" "" "00006" "{PMID:Lin 2006:17077940}" "2-generation family, 1 affected, unaffected non-carrier parent" "F" "" "Taiwan" "" "0" "" "" "" "patient" "00395284" "" "" "" "1" "" "00006" "{PMID:Nakajima 2007:17351709}" "2-generation family, 1 affected, unaffected non-carrier parent" "M" "" "Japan" "" "0" "" "" "" "FOP1" "00395285" "" "" "" "1" "" "00006" "{PMID:Nakajima 2007:17351709}" "2-generation family, 1 affected, unaffected non-carrier parent" "M" "" "Japan" "" "0" "" "" "" "FOP2" "00395286" "" "" "" "1" "" "00006" "{PMID:Nakajima 2007:17351709}" "2-generation family, 1 affected, unaffected non-carrier parent" "F" "" "Japan" "" "0" "" "" "" "FOP3" "00395287" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "M" "" "Italy" "" "0" "" "" "" "FOP1" "00395288" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "M" "" "Italy" "" "0" "" "" "" "FOP2" "00395289" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "F" "" "Italy" "" "0" "" "" "" "FOP3" "00395290" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "F" "" "Italy" "" "0" "" "" "" "FOP4" "00395291" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "M" "" "Italy" "" "0" "" "" "" "FOP5" "00395292" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "F" "" "Italy" "" "0" "" "" "" "FOP6" "00395293" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "F" "" "Italy" "" "0" "" "" "" "FOP7" "00395294" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "F" "" "Italy" "" "0" "" "" "" "FOP8" "00395295" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "M" "" "Italy" "" "0" "" "" "" "FOP9" "00395296" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "M" "" "Italy" "" "0" "" "" "" "FOP10" "00395297" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "M" "" "Italy" "" "0" "" "" "" "FOP11" "00395298" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "F" "" "Italy" "" "0" "" "" "" "FOP12" "00395299" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "M" "" "Italy" "" "0" "" "" "" "FOP13" "00395300" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "M" "" "Italy" "" "0" "" "" "" "FOP14" "00395301" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "M" "" "Italy" "" "0" "" "" "" "FOP15" "00395302" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "F" "" "Italy" "" "0" "" "" "" "FOP16" "00395303" "" "" "" "1" "" "00006" "{PMID:Bocciardi 2009:18830232}" "" "F" "" "Italy" "" "0" "" "" "" "FOP17" "00395304" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "M" "" "" "" "0" "" "" "" "Pat1" "00395305" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "F" "" "" "" "0" "" "" "" "Pat2" "00395306" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "F" "" "" "" "0" "" "" "" "Pat3" "00395307" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "M" "" "" "" "0" "" "" "" "Pat4" "00395308" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "M" "" "" "" "0" "" "" "" "Pat5" "00395309" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "F" "" "" "" "0" "" "" "" "Pat6" "00395310" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "M" "" "" "" "0" "" "" "" "Pat7" "00395311" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "M" "" "" "" "0" "" "" "" "Pat8" "00395312" "" "" "" "3" "" "00006" "{PMID:Kaplan 2019:19085907}" "2-generation family, 3 affected, mother/2 daughters" "F" "" "" "" "0" "" "" "" "Fam9PatII2" "00395313" "" "" "00395312" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "F" "" "" "" "0" "" "" "" "Fam9PatIII1" "00395314" "" "" "00395312" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "F" "" "" "" "0" "" "" "" "Fam9PatIII2" "00395315" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "M" "" "" "" "0" "" "" "" "Pat10" "00395316" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "F" "" "" "" "0" "" "" "" "Pat11" "00395317" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "F" "" "" "" "0" "" "" "" "Pat12" "00395318" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "F" "" "" "" "0" "" "" "" "Pat13" "00395319" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "F" "" "" "" "0" "" "" "" "Pat14" "00395320" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "F" "" "" "" "0" "" "" "" "Pat15" "00395321" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "M" "" "" "" "0" "" "" "" "Pat16" "00395322" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "M" "" "" "" "0" "" "" "" "Pat17" "00395323" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "F" "" "" "" "0" "" "" "" "Pat18" "00395324" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "F" "" "" "" "0" "" "" "" "Pat19" "00395325" "" "" "" "1" "" "00006" "{PMID:Kaplan 2019:19085907}" "" "F" "" "" "" "0" "" "" "" "Pat20" "00395326" "" "" "" "64" "" "00006" "{PMID:Kaplan 2019:19085907}" "64 classic FOP patients" "F;M" "" "" "" "0" "" "" "" "patients" "00395327" "" "" "" "1" "" "00006" "{PMID:Furuya 2008:18203193}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "patient" "00395328" "" "" "" "1" "" "00006" "{PMID:Petrie 2009:19330033}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat1" "00395329" "" "" "" "1" "" "00006" "{PMID:Petrie 2009:19330033}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat2" "00395330" "" "" "" "1" "" "00006" "{PMID:Barnett 2011:21567927}" "" "F" "" "Australia" "" "0" "" "" "" "patient" "00395331" "" "" "" "1" "" "00006" "{PMID:Gregson 2011:21044902}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00395332" "" "" "" "1" "" "00006" "{PMID:Nakahara 2014:24259422}" "" "M" "" "Japan" "" "0" "" "" "" "patient" "00395333" "" "" "" "1" "" "00006" "{PMID:Sun 2009:19300893}" "" "M" "" "China" "" "0" "" "" "" "Pat1" "00395334" "" "" "" "1" "" "00006" "{PMID:Sun 2009:19300893}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "Pat2" "00395335" "" "" "" "1" "" "00006" "{PMID:Lee 2009:19543505}" "" "M" "" "Korea" "" "0" "" "" "" "Pat1" "00395336" "" "" "" "1" "" "00006" "{PMID:Lee 2009:19543505}" "" "F" "" "Korea" "" "0" "" "" "" "Pat2" "00395337" "" "" "" "1" "" "00006" "{PMID:Lee 2009:19543505}" "" "F" "" "Korea" "" "0" "" "" "" "Pat3" "00395338" "" "" "" "1" "" "00006" "{PMID:Lee 2009:19543505}" "" "F" "" "Korea" "" "0" "" "" "" "Pat4" "00395339" "" "" "" "1" "" "00006" "{PMID:Lee 2009:19543505}" "" "M" "" "Korea" "" "0" "" "" "" "Pat5" "00395340" "" "" "" "1" "" "00006" "{PMID:Lee 2009:19543505}" "" "M" "" "Korea" "" "0" "" "" "" "Pat6" "00395341" "" "" "" "1" "" "00006" "{PMID:Lee 2009:19543505}" "" "F" "" "Korea" "" "0" "" "" "" "Pat7" "00395342" "" "" "" "1" "" "00006" "{PMID:Lee 2009:19543505}" "" "F" "" "Korea" "" "0" "" "" "" "Pat8" "00395343" "" "" "" "1" "" "00006" "{PMID:Lee 2009:19543505}" "" "F" "" "Korea" "" "0" "" "" "" "Pat9" "00395344" "" "" "" "1" "" "00006" "{PMID:Lee 2009:19543505}" "" "F" "" "Korea" "" "0" "" "" "" "Pat10" "00395345" "" "" "" "1" "" "00006" "{PMID:Lee 2009:19543505}" "" "F" "" "Korea" "" "0" "" "" "" "Pat11" "00395346" "" "" "" "1" "" "00006" "{PMID:Lee 2009:19543505}" "" "M" "" "Korea" "" "0" "" "" "" "Pat12" "00395347" "" "" "" "1" "" "00006" "{PMID:Guo 2010:20736820}" "" "F" "" "China" "" "0" "" "" "" "Pat1" "00395348" "" "" "" "1" "" "00006" "{PMID:Guo 2010:20736820}" "" "M" "" "China" "" "0" "" "" "" "Pat2" "00395349" "" "" "" "1" "" "00006" "{PMID:Dandara 2012:22748444}" "" "F" "" "South Africa" "" "0" "" "" "Xhosa" "FOP1.1" "00395350" "" "" "" "1" "" "00006" "{PMID:Dandara 2012:22748444}" "" "M" "" "South Africa" "" "0" "" "" "Xhosa" "FOP2.1" "00395351" "" "" "" "1" "" "00006" "{PMID:Dandara 2012:22748444}" "" "F" "" "South Africa" "" "0" "" "" "Xhosa" "FOP3.1" "00395352" "" "" "" "1" "" "00006" "{PMID:Dandara 2012:22748444}" "" "F" "" "South Africa" "" "0" "" "" "colored" "FOP4.1" "00395353" "" "" "" "1" "" "00006" "{PMID:Dandara 2012:22748444}" "" "F" "" "South Africa" "" "0" "" "" "Xhosa" "FOP5.1" "00395354" "" "" "" "1" "" "00006" "{PMID:Dandara 2012:22748444}" "" "F" "" "South Africa" "" "0" "" "" "white" "FOP6.1" "00395355" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "F" "" "Spain" "" "0" "" "" "" "Pat1" "00395356" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "M" "" "Spain" "" "0" "" "" "" "Pat2" "00395357" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "M" "" "Spain" "" "0" "" "" "" "Pat3" "00395358" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "M" "" "Spain" "" "0" "" "" "" "Pat4" "00395359" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "F" "" "Spain" "" "0" "" "" "" "Pat5" "00395360" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "F" "" "Spain" "" "0" "" "" "" "Pat6" "00395362" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "F" "" "Spain" "" "0" "" "" "" "Pat8" "00395365" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "F" "" "Spain" "" "0" "" "" "" "Pat11" "00395366" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "F" "" "Spain" "" "0" "" "" "" "Pat12" "00395367" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "M" "" "Spain" "" "0" "" "" "" "Pat13" "00395368" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "M" "" "Spain" "" "0" "" "" "" "Pat14" "00395369" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "F" "" "Spain" "" "0" "" "" "" "Pat15" "00395370" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "F" "" "Spain" "" "0" "" "" "" "Pat16" "00395371" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "M" "" "Spain" "" "0" "" "" "" "Pat17" "00395372" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "M" "" "Spain" "" "0" "" "" "" "Pat18" "00395373" "" "" "" "1" "" "00006" "{PMID:Morales-Piga 2012:22796417}" "" "M" "" "Spain" "" "0" "" "" "" "Pat19" "00395379" "" "" "" "1" "" "00006" "{PMID:Eresen Yazıcıoglu 2013:23260810}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat1" "00395380" "" "" "" "1" "" "00006" "{PMID:Eresen Yazıcıoglu 2013:23260810}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat2" "00395381" "" "" "" "1" "" "00006" "{PMID:Eresen Yazıcıoglu 2013:23260810}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat3" "00395382" "" "" "" "1" "" "00006" "{PMID:Eresen Yazıcıoglu 2013:23260810}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat4" "00395383" "" "" "" "1" "" "00006" "{PMID:Al-Haggar 2013:23424689}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Egypt" "" "0" "" "" "" "patient" "00395384" "" "" "" "1" "" "00006" "{PMID:Carvalho 2010:19796185}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat1" "00395385" "" "" "" "1" "" "00006" "{PMID:Carvalho 2010:19796185}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat2" "00395386" "" "" "" "1" "" "00006" "{PMID:Carvalho 2010:19796185}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat3" "00395387" "" "" "" "1" "" "00006" "{PMID:Carvalho 2010:19796185}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat4" "00395388" "" "" "" "1" "" "00006" "{PMID:Carvalho 2010:19796185}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat5" "00395389" "" "" "" "1" "" "00006" "{PMID:Carvalho 2010:19796185}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat6" "00395390" "" "" "" "1" "" "00006" "{PMID:Carvalho 2010:19796185}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat7" "00395391" "" "" "" "1" "" "00006" "{PMID:Carvalho 2010:19796185}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat8" "00395392" "" "" "" "1" "" "00006" "{PMID:Carvalho 2010:19796185}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat9" "00395393" "" "" "" "1" "" "00006" "{PMID:Carvalho 2010:19796185}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat10" "00395394" "" "" "" "3" "" "00006" "{PMID:Carvalho 2010:19796185}" "2-generation family, affected father/2 daughters" "F" "" "Brazil" "" "0" "" "" "" "Pat11" "00395395" "" "" "00395394" "1" "" "00006" "{PMID:Carvalho 2010:19796185}" "daughter" "F" "" "Brazil" "" "0" "" "" "" "Pat12" "00395396" "" "" "00395394" "1" "" "00006" "{PMID:Carvalho 2010:19796185}" "father" "M" "" "Brazil" "" "0" "" "" "" "Pat13" "00395397" "" "" "" "1" "" "00006" "{PMID:Carvalho 2010:19796185}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat14" "00395398" "" "" "" "1" "" "00006" "{PMID:Carvalho 2010:19796185}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat15" "00395399" "" "" "" "1" "" "00006" "{PMID:Carvalho 2010:19796185}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat16" "00395400" "" "" "00204350" "1" "" "00006" "{PMID:Joziasse 2011:21248739}" "father" "M" "" "Netherlands" "" "0" "" "" "" "FamPatII1" "00395620" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "189445" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 160 "{{individualid}}" "{{diseaseid}}" "00204342" "00000" "00204342" "01330" "00204346" "01330" "00204349" "01330" "00204350" "04204" "00204351" "00153" "00204352" "01330" "00204356" "01330" "00204357" "00153" "00331316" "05517" "00395244" "01330" "00395245" "01330" "00395246" "01330" "00395247" "01330" "00395248" "01330" "00395249" "01330" "00395250" "01330" "00395251" "01330" "00395252" "01330" "00395253" "01330" "00395254" "01330" "00395255" "01330" "00395256" "01330" "00395257" "01330" "00395258" "01330" "00395259" "01330" "00395260" "01330" "00395261" "01330" "00395262" "01330" "00395263" "01330" "00395264" "01330" "00395265" "01330" "00395266" "01330" "00395267" "01330" "00395268" "01330" "00395269" "01330" "00395270" "01330" "00395271" "01330" "00395272" "01330" "00395273" "01330" "00395274" "01330" "00395275" "01330" "00395276" "01330" "00395277" "01330" "00395278" "01330" "00395279" "01330" "00395280" "01330" "00395281" "01330" "00395282" "01330" "00395283" "01330" "00395284" "01330" "00395285" "01330" "00395286" "01330" "00395287" "01330" "00395288" "01330" "00395289" "01330" "00395290" "01330" "00395291" "01330" "00395292" "01330" "00395293" "01330" "00395294" "01330" "00395295" "01330" "00395296" "01330" "00395297" "01330" "00395298" "01330" "00395299" "01330" "00395300" "01330" "00395301" "01330" "00395302" "01330" "00395303" "01330" "00395304" "01330" "00395305" "01330" "00395306" "01330" "00395307" "01330" "00395308" "01330" "00395309" "01330" "00395310" "01330" "00395311" "01330" "00395312" "01330" "00395313" "01330" "00395314" "01330" "00395315" "01330" "00395316" "01330" "00395317" "01330" "00395318" "01330" "00395319" "01330" "00395320" "01330" "00395321" "01330" "00395322" "01330" "00395323" "01330" "00395324" "01330" "00395325" "01330" "00395326" "01330" "00395327" "01330" "00395328" "01330" "00395329" "01330" "00395330" "01330" "00395331" "01330" "00395332" "01330" "00395333" "01330" "00395334" "01330" "00395335" "01330" "00395336" "01330" "00395337" "01330" "00395338" "01330" "00395339" "01330" "00395340" "01330" "00395341" "01330" "00395342" "01330" "00395343" "01330" "00395344" "01330" "00395345" "01330" "00395346" "01330" "00395347" "01330" "00395348" "01330" "00395349" "01330" "00395350" "01330" "00395351" "01330" "00395352" "01330" "00395353" "01330" "00395354" "01330" "00395355" "01330" "00395356" "01330" "00395357" "01330" "00395358" "01330" "00395359" "01330" "00395360" "01330" "00395362" "01330" "00395365" "01330" "00395366" "01330" "00395367" "01330" "00395368" "01330" "00395369" "01330" "00395370" "01330" "00395371" "01330" "00395372" "01330" "00395373" "01330" "00395379" "01330" "00395380" "01330" "00395381" "01330" "00395382" "01330" "00395383" "01330" "00395384" "01330" "00395385" "01330" "00395386" "01330" "00395387" "01330" "00395388" "01330" "00395389" "01330" "00395390" "01330" "00395391" "01330" "00395392" "01330" "00395393" "01330" "00395394" "01330" "00395395" "01330" "00395396" "01330" "00395397" "01330" "00395398" "01330" "00395399" "01330" "00395400" "00000" "00395620" "01330" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00153, 01330, 04204, 05517 ## Count = 158 "{{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}}" "0000152810" "01330" "00204342" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "0000152814" "01330" "00204346" "00000" "Familial, autosomal dominant" "" "postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000152817" "01330" "00204349" "00000" "Isolated (sporadic)" "12y" "see paper; ..." "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000152819" "00153" "00204351" "00000" "Isolated (sporadic)" "" "European ancestry; inherited from the healthy father" "" "" "" "" "" "" "" "" "" "0000152820" "01330" "00204352" "00000" "Isolated (sporadic)" "" "FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); reduction malformation of the digits; mild cognitive impairment" "" "" "" "" "" "" "" "" "" "0000152824" "01330" "00204356" "00000" "Unknown" "21y" "1y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; short broad femoral necks; thumb malformations; hearing impairment; reduction terminal deficits of other digits; absent nail in digits with reduction deficits; postaxial missing digit of both hands; mild cognitive impairment; primary amenorrhea; corpus callosum abnormality" "" "" "" "" "" "" "" "FOP" "variant fibrodysplasia ossificans progressiva" "0000152825" "00153" "00204357" "00000" "Isolated (sporadic)" "" "European ancestry; inherited from the father with no AVS but presenting cardiac murmur; no evidence of mosaicism" "" "" "" "" "" "" "" "" "" "0000249508" "05517" "00331316" "00000" "Familial, autosomal dominant" "" "Ectopic ossification, Triangular face, Ptosis, Microtia, Overfolded helix, Foot polydactyly Yes" "" "" "" "" "" "" "" "Disorganized development of skeletal components group" "skeletal dysplasia" "0000288444" "01330" "00395244" "01411" "Isolated (sporadic)" "" "see paper; ..., syndactyly hands and feet, nail agenesis, mandibular hypoplasia, heterotopic ossification occurring from infancy, congenital cardiac malformation" "" "" "" "" "" "" "" "FOP" "severe fibrodysplasia ossificans progressiva" "0000288445" "01330" "00395245" "00006" "Familial, autosomal dominant" "" "postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288446" "01330" "00395246" "00006" "Familial, autosomal dominant" "" "postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288447" "01330" "00395247" "00006" "Familial, autosomal dominant" "" "postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288448" "01330" "00395248" "00006" "Familial, autosomal dominant" "" "postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288449" "01330" "00395249" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288450" "01330" "00395250" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288451" "01330" "00395251" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288452" "01330" "00395252" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288453" "01330" "00395253" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288454" "01330" "00395254" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288455" "01330" "00395255" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288456" "01330" "00395256" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288457" "01330" "00395257" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288458" "01330" "00395258" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288459" "01330" "00395259" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288460" "01330" "00395260" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288461" "01330" "00395261" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288462" "01330" "00395262" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288463" "01330" "00395263" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288464" "01330" "00395264" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288465" "01330" "00395265" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288466" "01330" "00395266" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288467" "01330" "00395267" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288468" "01330" "00395268" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288469" "01330" "00395269" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288470" "01330" "00395270" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288471" "01330" "00395271" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288472" "01330" "00395272" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288473" "01330" "00395273" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288474" "01330" "00395274" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288475" "01330" "00395275" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288476" "01330" "00395276" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288477" "01330" "00395277" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288478" "01330" "00395278" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288479" "01330" "00395279" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288480" "01330" "00395280" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288481" "01330" "00395281" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288482" "01330" "00395282" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288483" "01330" "00395283" "00006" "Isolated (sporadic)" "03y" "see paper; ..." "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288484" "01330" "00395284" "00006" "Isolated (sporadic)" "17y" "see paper; ..., abnormal great toe, short thumb" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288485" "01330" "00395285" "00006" "Isolated (sporadic)" "10y" "see paper; ..., scalp baldness, abnormal great toe" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288486" "01330" "00395286" "00006" "Isolated (sporadic)" "00y03m" "see paper; ..., short broad femoral neck, abnormal great toe, short thumb" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288487" "01330" "00395287" "00006" "Familial, autosomal dominant" "32y" "great toe malformation" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288488" "01330" "00395288" "00006" "Familial, autosomal dominant" "4y" "15m-onset ossification, great toe malformation, hydrocephalus secondary to posterior bulbar expansive lesion of unknown origin (surgical correction)" "15m" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288489" "01330" "00395289" "00006" "Familial, autosomal dominant" "9y" "4y-onset ossification, great toe malformation" "4y" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288490" "01330" "00395290" "00006" "Familial, autosomal dominant" "4y" "20m-onset ossification, great toe malformation" "20m" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288491" "01330" "00395291" "00006" "Familial, autosomal dominant" "" "8y-onset ossification, great toe malformation" "8y" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288492" "01330" "00395292" "00006" "Familial, autosomal dominant" "28y" "6y-onset ossification, great toe malformation" "6y" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288493" "01330" "00395293" "00006" "Familial, autosomal dominant" "27y" "11y-onset ossification, great toe malformation" "11y" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288494" "01330" "00395294" "00006" "Familial, autosomal dominant" "49y" "11y-onset ossification, great toe malformation" "11y" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288495" "01330" "00395295" "00006" "Familial, autosomal dominant" "44y" "3y-onset ossification, great toe malformation" "3y" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288496" "01330" "00395296" "00006" "Familial, autosomal dominant" "35y" "14y-onset ossification, great toe malformation" "14y" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288497" "01330" "00395297" "00006" "Familial, autosomal dominant" "9y" "6m-onset ossification, great toe malformation" "6m" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288498" "01330" "00395298" "00006" "Familial, autosomal dominant" "21y" "4y-onset ossification, no great toe malformation" "4y" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288499" "01330" "00395299" "00006" "Familial, autosomal dominant" "48y" "5y-onset ossification, great toe malformation, episodic seizures" "5y" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288500" "01330" "00395300" "00006" "Familial, autosomal dominant" "36y" "4y-onset ossification, great toe malformation" "4y" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288501" "01330" "00395301" "00006" "Familial, autosomal dominant" "8y" "6y-onset ossification, great toe malformation" "6y" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288502" "01330" "00395302" "00006" "Familial, autosomal dominant" "16y" "great toe malformation" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288503" "01330" "00395303" "00006" "Familial, X-linked dominant" "42y" "14y-onset ossification, great toe malformation" "14y" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288504" "01330" "00395304" "00006" "Unknown" "" "see paper; ..., 3y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; aplastic anemia;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva plus" "0000288505" "01330" "00395305" "00006" "Unknown" "" "see paper; ..., 14y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; polyostotic fibrous dysplasia;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva plus" "0000288506" "01330" "00395306" "00006" "Unknown" "" "see paper; ..., 4m-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); craniopharygioma;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva plus" "0000288507" "01330" "00395307" "00006" "Unknown" "" "see paper; ..., 2y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; proximal medial tibial osteochondromas; thumb malformations (short 1st metacarpal, +/- monophalangism); sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment; childhood glaucoma;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva plus" "0000288508" "01330" "00395308" "00006" "Unknown" "" "see paper; ..., 9y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; cataracts; retinal detachment; childhood glaucoma; diffuse cerebral dysfunction, seizures;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva plus" "0000288509" "01330" "00395309" "00006" "Unknown" "" "see paper; ..., 1y6m-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe growth retardation;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva plus" "0000288510" "01330" "00395310" "00006" "Unknown" "" "see paper; ..., 6m-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe growth retardation;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva plus" "0000288511" "01330" "00395311" "00006" "Unknown" "" "see paper; ..., 26y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); distal femoral osteochondroma; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); normal right great toe, minor changes in 1st left metatarsal; intra-articular synovial osteochondromatosis of hips, DJD hips; anatomic abnormalities of cerebellum;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva variant" "0000288512" "01330" "00395312" "00006" "Familial, autosomal dominant" "" "see paper; ..., 22y-onset heterotopic ossification, mild heterotopic ossification, exacerbation following trauma, no ntra-articular synovial osteochondromatosis hip, radiographic anomalies cervical spine; progressive heterotopic ossification in characteristic anatomic patterns, no congenital malformation great toe, ; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); mother mild orthotopic changes in C-spine, daughters do not; intra-articular synovial osteochondromatosis of hips, DJD hips;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva variant" "0000288513" "01330" "00395313" "00006" "Familial, autosomal dominant" "" "see paper; ..., no heterotopic ossification, no radiographic anomalies cervical spine; progressive heterotopic ossification in characteristic anatomic patterns, minor congenital malformation great toe, ; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); mother mild orthotopic changes in C-spine, daughters do not; intra-articular synovial osteochondromatosis of hips, DJD hips;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva variant" "0000288514" "01330" "00395314" "00006" "Familial, autosomal dominant" "" "see paper; ..., 13y-onset heterotopic ossification, mild heterotopic ossification, exacerbation following trauma, intra-articular synovial osteochondromatosis hip, no radiographic anomalies cervical spine; progressive heterotopic ossification in characteristic anatomic patterns, no congenital malformation great toe, ; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); mother mild orthotopic changes in C-spine, daughters do not; intra-articular synovial osteochondromatosis of hips, DJD hips;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva variant" "0000288515" "01330" "00395315" "00006" "Unknown" "" "see paper; ..., 21y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; proximal medial tibial osteochondromas; short broad femoral necks; characteristic short monophalangic great toe, missing middle phalanges of 4th and 5th toes bilaterally; intra-articular synovial osteochondromatosis of hips, DJD hips; cerebral cavernous malformations" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva variant" "0000288516" "01330" "00395316" "00006" "Unknown" "" "see paper; ..., 2y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment; anatomic abnormalities of cerebellum;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva variant" "0000288517" "01330" "00395317" "00006" "Unknown" "" "see paper; ..., 8y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva variant" "0000288518" "01330" "00395318" "00006" "Unknown" "" "see paper; ..., 2y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva variant" "0000288519" "01330" "00395319" "00006" "Unknown" "" "see paper; ..., 2y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva variant" "0000288520" "01330" "00395320" "00006" "Unknown" "" "see paper; ..., 2y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); persistence of primary teeth in adulthood; primary amenorrhea;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva plus" "0000288521" "01330" "00395321" "00006" "Unknown" "" "see paper; ..., 4m-onset heterotopic ossification; characteristic malformations right great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism) ; progressive heterotopic ossification in characteristic anatomic patterns; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of left digits ; absent finger/toe nails in left digits with severe reduction deficits; hypospadias;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva variant" "0000288522" "01330" "00395322" "00006" "Unknown" "" "see paper; ..., heterotopic ossification; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; mild cognitive impairment;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva variant" "0000288523" "01330" "00395323" "00006" "Unknown" "" "see paper; ..., 15y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); primary amenorrhea;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva variant" "0000288524" "01330" "00395324" "00006" "Unknown" "" "see paper; ..., 14y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; normal or minimal changes in great toes;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva variant" "0000288525" "01330" "00395325" "00006" "Unknown" "" "see paper; ..., 11y6m-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; proximal medial tibial osteochondromas; normal or minimal changes in great toes;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva variant" "0000288526" "01330" "00395326" "00006" "Unknown" "" "see paper; ..., 1-10y-onset heterotopic ossification; 1.00 characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); 1.00 progressive heterotopic ossification in characteristic anatomic patterns; 0.50 conductive hearing impairment; 0.80 cervical spine malformations i(ntra-articular ankylosis facet joints, early degenerative changes cervical spine); 0.90 proximal medial tibial osteochondromas; 0.70 short broad femoral necks; 0.50 thumb malformations (short 1st metacarpal, +/- monophalangism)" "" "" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288527" "01330" "00395327" "00006" "Isolated (sporadic)" "62y" "see paper; ..., normal birth, 10y-difficulty moving shoulder due to contractures both shoulder joints; joint contractures progressed slowly in extremities; 36y-unable to walk; 55y-bedridden, rigid spine, baldness, sensory hearing-loss, abnormal ossification, no respiratory failure; severe hypodactyly, short thumbs both hands, severe defect both great toes; no neurological anomalies, joint contractures, abnormal ossification; X-ray/3D-tomography extensive heterotopic bone formation, rigid spine, very short first metacarpal bones, toe malformations, defect of ossa digitorum both great toes" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288528" "01330" "00395328" "00006" "Unknown" "" "see paper; ..., painful bony lump over right scapula after fall, one short great toe; developed multiple tender bony swellings; fixed flexion deformities both elbows, lumbar spinal movements restricted; frequent flares of condition with increased inflammatory lesions over shoulder joints, neck, and jaw; fusion neck within 6 months of clinical presentation" "" "14y" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288529" "01330" "00395329" "00006" "Unknown" "52y" "see paper; ..., birth severe reduction deformities all digits; 6y-lumps, usually painful, on occiput, stiff spine, stiff shoulders; 14y-both elbows and right hip ectopic ossification; 18y-left hip ectopic ossification; 20y-ossification jaw after dental extraction; 26y-complete spinal fixation, shoulders fixed in adduction, elbows fixed in flexion, hip movement restricted and fixed in slight flexion, jaw gape 0.3cm; mild cognitive impairment, diffuse scalp, 14y-onset hair thinning" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288530" "01330" "00395330" "00006" "Unknown" "" "see paper; ..., 21y-stiff back, X-ray lumbar spine normal" "21y" "" "stiff back" "" "" "" "" "FOP" "ankylosing spondylitis" "0000288531" "01330" "00395331" "00006" "Unknown" "45y" "see paper; ..." "21y" "" "" "" "" "" "" "FOP" "variant fibrodysplasia ossificans progressiva" "0000288532" "01330" "00395332" "00006" "Unknown" "22y" "see paper; ..., heterotopic ossification, no malformation great toes, normal development from birth; 17y-heterotopic ossification lumbar area; delayed onset, slower and mild clinical course, little finger camptodactyly" "" "" "" "" "" "" "" "FOP" "variant fibrodysplasia ossificans progressiva" "0000288533" "01330" "00395333" "00006" "Isolated (sporadic)" "18y" "see paper; ..." "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288534" "01330" "00395334" "00006" "Isolated (sporadic)" "16y" "see paper; ..." "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288535" "01330" "00395335" "00006" "Isolated (sporadic)" "10y" "great toe abnormality; no migrating nodule; no ankylosis; currently normal life" "" "" "" "" "" "" "" "FOP" "hereditary multiple exostosis" "0000288536" "01330" "00395336" "00006" "Isolated (sporadic)" "16y" "great toe abnormality; migrating nodule;16y-onset ossification; ankylosis neck; currently community ambulator" "" "" "" "" "" "" "" "FOP" "congenital foot deformity" "0000288537" "01330" "00395337" "00006" "Isolated (sporadic)" "33y" "great toe abnormality; migrating nodule;10y-onset ossification; ankylosis whole body; currently bed-ridden" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288538" "01330" "00395338" "00006" "Isolated (sporadic)" "15y" "great toe abnormality; no migrating nodule;6y-onset ossification; ankylosis neck, shoulder, back, hip, knee; currently wheel-chair bound" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288539" "01330" "00395339" "00006" "Isolated (sporadic)" "19y" "great toe abnormality; migrating nodule;5y-onset ossification; ankylosis neck, shoulder, back; currently community ambulator" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288540" "01330" "00395340" "00006" "Isolated (sporadic)" "6y" "great toe abnormality; no migrating nodule;5y-onset ossification; ankylosis neck, shoulder, back; currently community ambulator" "" "" "" "" "" "" "" "FOP" "infantile fibromatosis" "0000288541" "01330" "00395341" "00006" "Isolated (sporadic)" "33y" "great toe abnormality; migrating nodule;2y-onset ossification; ankylosis whole body; currently bed-ridden" "" "" "" "" "" "" "" "FOP" "myositis ossificans" "0000288542" "01330" "00395342" "00006" "Isolated (sporadic)" "19y" "great toe abnormality; migrating nodule;2y-onset ossification; ankylosis neck, shoulder, back, hip, knee; currently wheel-chair bound" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288543" "01330" "00395343" "00006" "Isolated (sporadic)" "7y" "great toe abnormality; migrating nodule;5y-onset ossification; ankylosis neck, shoulder, back; currently community ambulator" "" "" "" "" "" "" "" "FOP" "myositis ossificans" "0000288544" "01330" "00395344" "00006" "Isolated (sporadic)" "14y" "great toe abnormality; migrating nodule;2y-onset ossification; ankylosis neck, shoulder, back, hip, knee; currently wheel-chair bound" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288545" "01330" "00395345" "00006" "Isolated (sporadic)" "21y" "great toe abnormality; migrating nodule;11y-onset ossification; ankylosis neck, shoulder, back, right knee; currently community ambulator" "" "" "" "" "" "" "" "FOP" "myositis ossificans" "0000288546" "01330" "00395346" "00006" "Isolated (sporadic)" "12y" "great toe abnormality; migrating nodule;9y-onset ossification; ankylosis neck, back, right ankle; currently community ambulator" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288547" "01330" "00395347" "00006" "Unknown" "04y" "see paper; ..." "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288548" "01330" "00395348" "00006" "Unknown" "03y" "see paper; ..." "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288549" "01330" "00395349" "00006" "Unknown" "6y" "extensive heterotopic ossification over back and spine; arms and neck immobile and arms tethered to thorax, legs spared" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288550" "01330" "00395350" "00006" "Unknown" "46y" "spine and arms completely immobile; able to walk unaided; no clinical features of thoracic insufficiency syndrome; gainfully employed" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288551" "01330" "00395351" "00006" "Unknown" "47y" "completely immobile, only able to move eyes and tongue; profound iron deficiency anaemia owing to diet of tea and bread as unable to open mouth and chew, thoracic insufficiency syndrome, pulmonary hypertension" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288552" "01330" "00395352" "00006" "Unknown" "8y" "heterotopic ossification over back and spine, arms and neck immobile, arms tethered to thorax; presented after injury at school, serious fall owing to inability to protect with arms, developed large swelling over right eye" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288553" "01330" "00395353" "00006" "Unknown" "2y" "hard mass between scapulae, rigid cervical spine, limited abduction arms; fitted with a helmet to protect against head injuries" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288554" "01330" "00395354" "00006" "Unknown" "14y" "spinal immobility noted only months before diagnosis; 5m-surgical correction toes" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288555" "01330" "00395355" "00006" "Unknown" "26y" "see paper; ..., typical great toe malformation, short thumbs/exostosis (hands), cervical spine fusions; 11y-ectopic ossification shoulder, 6 lesions; mild deafness" "" "1y" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288556" "01330" "00395356" "00006" "Unknown" "41y" "see paper; ..., typical great toe malformation, short thumbs/clinodactyly, cervical spine fusions, broad femoral necks/knee osteochondroma; 5y-ectopic ossification neck, 17 lesions; mild deafness" "" "3y" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288557" "01330" "00395357" "00006" "Unknown" "4y" "see paper; ..., typical great toe malformation, short thumbs/clinodactyly, knee osteochondroma; 0.4y-ectopic ossification neck, 12 lesions; no deafness; cutaneous angioma" "" "0y5m" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288558" "01330" "00395358" "00006" "Unknown" "23y" "see paper; ..., typical great toe malformation, short thumbs/cervical spine fusions, broad femoral necks/knee osteochondroma; 3y-ectopic ossification neck, 13 lesions; no deafness" "" "6m" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288559" "01330" "00395359" "00006" "Unknown" "21y" "see paper; ..., typical great toe malformation, clinodactily/cervical spine fusions, broad femoral necks; 0.4y-ectopic ossification neck, 10 lesions; no deafness; persistence primary teeth" "" "1y9m" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288560" "01330" "00395360" "00006" "Unknown" "42y" "see paper; ..., atypical great toe malformation, cervical spine fusions/broad femoral necks, double patella/exostoses; 6y-ectopic ossification hip, 10 lesions; no deafness; bald, abnormal dentition" "" "10y" "" "" "" "" "" "FOP" "variant fibrodysplasia ossificans progressiva" "0000288562" "01330" "00395362" "00006" "Unknown" "33y" "see paper; ..., typical great toe malformation, short thumbs/cervical spine fusions, clinodactily/exostosis/scoliosis/synostosis; 0.8y-ectopic ossification neck, 8 lesions; no deafness; short height" "" "1y1m" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288565" "01330" "00395365" "00006" "Unknown" "13y" "see paper; ..., typical great toe malformation, short thumbs/cervical spine fusions, broad femoral necks/knee osteochondroma; 1y6m-ectopic ossification neck, 7 lesions; no deafness; persistence primary teeth, hypertrichosis" "" "6m" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288566" "01330" "00395366" "00006" "Unknown" "40y" "see paper; ..., typical great toe malformation, clinodactily/cervical spine fusions, knee osteochondroma; 2y-ectopic ossification paraspinal, 9 lesions; severe deafness; bald, abnormal dentition" "" "12y" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288567" "01330" "00395367" "00006" "Unknown" "29y" "see paper; ..., atypical great toe malformation, short thumbs/cervical spine fusions, knee osteochondroma/scoliosis; 15y-ectopic ossification hip, 4 lesions; no deafness; bald" "" "1y" "" "" "" "" "" "FOP" "variant fibrodysplasia ossificans progressiva" "0000288568" "01330" "00395368" "00006" "Unknown" "13y" "see paper; ..., typical great toe malformation, cervical spine fusions/synostosis, knee osteochondroma/exostoses (hip); 11y-ectopic ossification hip, 1 lesions; no deafness" "" "2y" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288569" "01330" "00395369" "00006" "Unknown" "12y" "see paper; ..., typical great toe malformation, short thumbs/clinodactyly/cervical spine fusions, broad femoral necks/knee osteochondroma; 0.8y-ectopic ossification neck, 8 lesions; light deafness; hypertrichosis" "" "5y2m" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288570" "01330" "00395370" "00006" "Unknown" "53y" "see paper; ..., atypical great toe malformation, clinodactily/cervical spine fusions, scoliosis; 14y-ectopic ossification scapula, 10 lesions; no deafness" "" "2y" "" "" "" "" "" "FOP" "variant fibrodysplasia ossificans progressiva" "0000288571" "01330" "00395371" "00006" "Unknown" "52y" "see paper; ..., typical great toe malformation, knee osteochondroma; 5y-ectopic ossification unclear, 7 lesions; no deafness; low IQ, bald" "" "2y" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288572" "01330" "00395372" "00006" "Unknown" "29y" "see paper; ..., typical great toe malformation, clinodactily/knee osteochondroma/scoliosis; 6y-ectopic ossification neck, 12 lesions; no deafness" "" "1m" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288573" "01330" "00395373" "00006" "Unknown" "26y" "see paper; ..., typical great toe malformation, short thumbs/clinodactyly/cervical spine fusions, broad femoral necks/exostosis/scoliosis; 0.2y-ectopic ossification neck, 9 lesions; light deafness" "" "4y" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288579" "01330" "00395379" "00006" "Isolated (sporadic)" "13y" "4y-heterotopic ossification; great toe malformations (hallux valgus, malformed first metatarsal and/or monophalangism), progressive heterotopic ossification, no sparse thin scalp hair, no heterochromia, mitral valve prolapse" "" "" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288580" "01330" "00395380" "00006" "Isolated (sporadic)" "13y" "3-4y-heterotopic ossification; great toe malformations (hallux valgus, malformed first metatarsal and/or monophalangism), progressive heterotopic ossification, no sparse thin scalp hair, heterochromia left eye, mitral valve prolapse" "" "" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288581" "01330" "00395381" "00006" "Isolated (sporadic)" "23y" "14y-heterotopic ossification; great toe malformations (hallux valgus, malformed first metatarsal and/or monophalangism), progressive heterotopic ossification, no sparse thin scalp hair, no heterochromia, no mitral valve prolapse" "" "" "" "" "" "" "" "FOP" "classic fibrodysplasia ossificans progressiva" "0000288582" "01330" "00395382" "00006" "Isolated (sporadic)" "25y" "10y-heterotopic ossification; no great toe malformation, progressive heterotopic ossification, sparse thin scalp hair, no heterochromia, no mitral valve prolapse" "" "" "" "" "" "" "" "FOP" "variant fibrodysplasia ossificans progressiva" "0000288583" "01330" "00395383" "00006" "Isolated (sporadic)" "01y06m" "see paper; ..." "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288584" "01330" "00395384" "00006" "Unknown" "22y" "malformations great toe; 1y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; left proximal medial tibial osteocondromas; short broad femoral necks; thumb malformations;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288585" "01330" "00395385" "00006" "Unknown" "14y" "malformations great toe; 2y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; bilateral proximal medial tibial osteocondromas; short broad femoral necks; thumb malformations; hearing impairment;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288586" "01330" "00395386" "00006" "Unknown" "12y" "malformations great toe; 2y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; bilateral proximal medial tibial osteocondromas; short broad femoral necks; thumb malformations;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288587" "01330" "00395387" "00006" "Unknown" "12y" "malformations great toe; 5y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; bilateral proximal medial tibial osteocondromas; thumb malformations; hearing impairment;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288588" "01330" "00395388" "00006" "Unknown" "3y" "malformations great toe; 2y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; left proximal medial tibial osteocondromas; short broad femoral necks; thumb malformations;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288589" "01330" "00395389" "00006" "Unknown" "4y" "malformations great toe; 2y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; bilateral proximal medial tibial osteocondromas; short broad femoral necks; thumb malformations;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288590" "01330" "00395390" "00006" "Unknown" "16y" "malformations great toe; 1y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; bilateral proximal medial tibial osteocondromas; short broad femoral necks; hearing impairment;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288591" "01330" "00395391" "00006" "Unknown" "28y" "12y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; thumb malformations; normal or minimal changes in great toes;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288592" "01330" "00395392" "00006" "Unknown" "11y" "malformations great toe; <1y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; bilateral proximal medial tibial osteocondromas; short broad femoral necks; thumb malformations;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288593" "01330" "00395393" "00006" "Unknown" "11y" "malformations great toe; -onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; left proximal medial tibial osteocondromas; short broad femoral necks; thumb malformations;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288594" "01330" "00395394" "00006" "Familial, autosomal dominant" "13y" "malformations great toe; 5y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; bilateral proximal medial tibial osteocondromas; short broad femoral necks; thumb malformations;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288595" "01330" "00395395" "00006" "Familial, autosomal dominant" "11y" "malformations great toe; 7y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; short broad femoral necks; thumb malformations;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288596" "01330" "00395396" "00006" "Unknown" "42y" "malformations great toe; 9y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; bilateral proximal medial tibial osteocondromas; short broad femoral necks; thumb malformations; hearing impairment;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288597" "01330" "00395397" "00006" "Unknown" "4y" "malformations great toe; 1y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; short broad femoral necks;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288598" "01330" "00395398" "00006" "Unknown" "21y" "malformations great toe; <1y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; right proximal medial tibial osteocondromas; thumb malformations;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288599" "01330" "00395399" "00006" "Unknown" "39y" "malformations great toe; 13y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; bilateral proximal medial tibial osteocondromas; thumb malformations;" "" "" "" "" "" "" "" "FOP" "fibrodysplasia ossificans progressiva" "0000288600" "04204" "00204350" "00006" "Unknown" "" "Down syndrome, congenital heart defect; unaffected carrier father" "" "" "" "" "" "" "" "" "congenital heart defect" "0000288818" "01330" "00395620" "01164" "Isolated (sporadic)" "01y" "Ectopic ossification" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 159 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000205372" "00204342" "1" "00000" "00000" "2013-04-10 11:05:38" "00008" "2013-04-10 11:20:05" "SEQ" "DNA;RNA" "" "" "0000205376" "00204346" "1" "00000" "00000" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "PCRdig;RT-PCR;SEQ" "DNA;RNA" "" "" "0000205379" "00204349" "1" "00000" "00000" "2013-04-10 11:05:38" "00008" "2013-04-10 11:20:05" "SEQ" "DNA" "" "" "0000205380" "00204350" "1" "00000" "00000" "2013-04-10 11:05:38" "00008" "2013-04-10 11:20:05" "SEQ" "DNA" "" "" "0000205381" "00204351" "1" "00000" "00000" "2013-04-10 11:05:38" "00008" "2013-04-10 11:20:05" "SEQ" "DNA" "" "" "0000205382" "00204352" "1" "00000" "00000" "2013-04-10 11:05:38" "00008" "2013-04-10 11:20:05" "SEQ" "DNA" "" "" "0000205386" "00204356" "1" "00000" "00000" "2013-04-10 11:05:38" "00008" "2013-04-10 11:20:05" "SEQ;PCRdig" "DNA" "" "" "0000205387" "00204357" "1" "00000" "00000" "2013-04-10 11:05:38" "00008" "2013-04-10 11:20:05" "SEQ" "DNA" "" "" "0000332535" "00331316" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000396490" "00395244" "1" "01411" "01411" "2021-12-04 09:39:44" "" "" "SEQ" "DNA" "" "" "0000396491" "00395245" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396492" "00395246" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396493" "00395247" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396494" "00395248" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396495" "00395249" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396496" "00395250" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396497" "00395251" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396498" "00395252" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396499" "00395253" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396500" "00395254" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396501" "00395255" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396502" "00395256" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396503" "00395257" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396504" "00395258" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396505" "00395259" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396506" "00395260" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396507" "00395261" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396508" "00395262" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396509" "00395263" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396510" "00395264" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396511" "00395265" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396512" "00395266" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396513" "00395267" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396514" "00395268" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396515" "00395269" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396516" "00395270" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396517" "00395271" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396518" "00395272" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396519" "00395273" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396520" "00395274" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396521" "00395275" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396522" "00395276" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396523" "00395277" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396524" "00395278" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396525" "00395279" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396526" "00395280" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396527" "00395281" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396528" "00395282" "1" "00006" "00006" "2013-04-10 11:05:38" "00006" "2021-12-04 14:27:19" "SEQ" "DNA" "" "" "0000396529" "00395283" "1" "00006" "00006" "2021-12-04 15:08:24" "" "" "SEQ" "DNA" "" "" "0000396530" "00395284" "1" "00006" "00006" "2021-12-04 15:15:41" "" "" "SEQ" "DNA" "" "" "0000396531" "00395285" "1" "00006" "00006" "2021-12-04 15:16:32" "" "" "SEQ" "DNA" "" "" "0000396532" "00395286" "1" "00006" "00006" "2021-12-04 15:17:30" "" "" "SEQ" "DNA" "" "" "0000396533" "00395287" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396534" "00395288" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396535" "00395289" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396536" "00395290" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396537" "00395291" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396538" "00395292" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396539" "00395293" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396540" "00395294" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396541" "00395295" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396542" "00395296" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396543" "00395297" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396544" "00395298" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396545" "00395299" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396546" "00395300" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396547" "00395301" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396548" "00395302" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396549" "00395303" "1" "00006" "00006" "2021-12-04 21:04:17" "" "" "SEQ" "DNA" "" "" "0000396550" "00395304" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396551" "00395305" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396552" "00395306" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396553" "00395307" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396554" "00395308" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396555" "00395309" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396556" "00395310" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396557" "00395311" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396558" "00395312" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396559" "00395313" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396560" "00395314" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396561" "00395315" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396562" "00395316" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396563" "00395317" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396564" "00395318" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396565" "00395319" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396566" "00395320" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396567" "00395321" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396568" "00395322" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396569" "00395323" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396570" "00395324" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396571" "00395325" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396572" "00395326" "1" "00006" "00006" "2021-12-05 10:19:51" "" "" "SEQ" "DNA" "" "" "0000396573" "00395327" "1" "00006" "00006" "2021-12-05 10:30:07" "00006" "2021-12-05 10:31:47" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000396574" "00395328" "1" "00006" "00006" "2021-12-05 10:38:56" "" "" "SEQ" "DNA" "" "" "0000396575" "00395329" "1" "00006" "00006" "2021-12-05 10:44:52" "" "" "SEQ" "DNA" "" "" "0000396576" "00395330" "1" "00006" "00006" "2021-12-05 10:52:53" "" "" "SEQ" "DNA" "" "" "0000396577" "00395331" "1" "00006" "00006" "2021-12-05 10:58:41" "" "" "SEQ" "DNA" "" "" "0000396578" "00395332" "1" "00006" "00006" "2021-12-05 11:04:33" "" "" "SEQ" "DNA" "" "" "0000396579" "00395333" "1" "00006" "00006" "2021-12-05 11:08:48" "" "" "SEQ" "DNA" "" "" "0000396580" "00395334" "1" "00006" "00006" "2021-12-05 11:10:45" "" "" "SEQ" "DNA" "" "" "0000396581" "00395335" "1" "00006" "00006" "2021-12-05 11:34:01" "" "" "SEQ" "DNA" "" "" "0000396582" "00395336" "1" "00006" "00006" "2021-12-05 11:34:01" "" "" "SEQ" "DNA" "" "" "0000396583" "00395337" "1" "00006" "00006" "2021-12-05 11:34:01" "" "" "SEQ" "DNA" "" "" "0000396584" "00395338" "1" "00006" "00006" "2021-12-05 11:34:01" "" "" "SEQ" "DNA" "" "" "0000396585" "00395339" "1" "00006" "00006" "2021-12-05 11:34:01" "" "" "SEQ" "DNA" "" "" "0000396586" "00395340" "1" "00006" "00006" "2021-12-05 11:34:01" "" "" "SEQ" "DNA" "" "" "0000396587" "00395341" "1" "00006" "00006" "2021-12-05 11:34:01" "" "" "SEQ" "DNA" "" "" "0000396588" "00395342" "1" "00006" "00006" "2021-12-05 11:34:01" "" "" "SEQ" "DNA" "" "" "0000396589" "00395343" "1" "00006" "00006" "2021-12-05 11:34:01" "" "" "SEQ" "DNA" "" "" "0000396590" "00395344" "1" "00006" "00006" "2021-12-05 11:34:01" "" "" "SEQ" "DNA" "" "" "0000396591" "00395345" "1" "00006" "00006" "2021-12-05 11:34:01" "" "" "SEQ" "DNA" "" "" "0000396592" "00395346" "1" "00006" "00006" "2021-12-05 11:34:01" "" "" "SEQ" "DNA" "" "" "0000396593" "00395347" "1" "00006" "00006" "2021-12-05 11:39:10" "" "" "SEQ" "DNA" "" "" "0000396594" "00395348" "1" "00006" "00006" "2021-12-05 11:40:45" "" "" "SEQ" "DNA" "" "" "0000396595" "00395349" "1" "00006" "00006" "2021-12-05 11:56:31" "" "" "SEQ" "DNA" "" "" "0000396596" "00395350" "1" "00006" "00006" "2021-12-05 11:56:31" "" "" "SEQ" "DNA" "" "" "0000396597" "00395351" "1" "00006" "00006" "2021-12-05 11:56:31" "" "" "SEQ" "DNA" "" "" "0000396598" "00395352" "1" "00006" "00006" "2021-12-05 11:56:31" "" "" "SEQ" "DNA" "" "" "0000396599" "00395353" "1" "00006" "00006" "2021-12-05 11:56:31" "" "" "SEQ" "DNA" "" "" "0000396600" "00395354" "1" "00006" "00006" "2021-12-05 11:56:31" "" "" "SEQ" "DNA" "" "" "0000396601" "00395355" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396602" "00395356" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396603" "00395357" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396604" "00395358" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396605" "00395359" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396606" "00395360" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396607" "00395362" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396608" "00395365" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396609" "00395366" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396610" "00395367" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396611" "00395368" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396612" "00395369" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396613" "00395370" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396614" "00395371" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396615" "00395372" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396616" "00395373" "1" "00006" "00006" "2021-12-05 12:53:42" "" "" "SEQ" "DNA" "" "" "0000396617" "00395379" "1" "00006" "00006" "2021-12-05 13:07:09" "" "" "SEQ" "DNA" "" "" "0000396618" "00395380" "1" "00006" "00006" "2021-12-05 13:07:09" "" "" "SEQ" "DNA" "" "" "0000396619" "00395381" "1" "00006" "00006" "2021-12-05 13:07:09" "" "" "SEQ" "DNA" "" "" "0000396620" "00395382" "1" "00006" "00006" "2021-12-05 13:07:09" "" "" "SEQ" "DNA" "" "" "0000396621" "00395383" "1" "00006" "00006" "2021-12-05 13:16:11" "" "" "SEQ" "DNA" "" "" "0000396622" "00395384" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396623" "00395385" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396624" "00395386" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396625" "00395387" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396626" "00395388" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396627" "00395389" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396628" "00395390" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396629" "00395391" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396630" "00395392" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396631" "00395393" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396632" "00395394" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396633" "00395395" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396634" "00395396" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396635" "00395397" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396636" "00395398" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396637" "00395399" "1" "00006" "00006" "2021-12-05 14:05:58" "" "" "SEQ" "DNA" "" "" "0000396638" "00395400" "1" "00006" "00006" "2021-12-05 14:54:03" "" "" "SEQ" "DNA" "" "" "0000396858" "00395620" "1" "01164" "01164" "2021-12-08 14:46:00" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 158 "{{screeningid}}" "{{geneid}}" "0000205372" "ACVR1" "0000205376" "ACVR1" "0000205379" "ACVR1" "0000205380" "ACVR1" "0000205381" "ACVR1" "0000205382" "ACVR1" "0000205386" "ACVR1" "0000205387" "ACVR1" "0000332535" "ACVR1" "0000396490" "ACVR1" "0000396491" "ACVR1" "0000396492" "ACVR1" "0000396493" "ACVR1" "0000396494" "ACVR1" "0000396495" "ACVR1" "0000396496" "ACVR1" "0000396497" "ACVR1" "0000396498" "ACVR1" "0000396499" "ACVR1" "0000396500" "ACVR1" "0000396501" "ACVR1" "0000396502" "ACVR1" "0000396503" "ACVR1" "0000396504" "ACVR1" "0000396505" "ACVR1" "0000396506" "ACVR1" "0000396507" "ACVR1" "0000396508" "ACVR1" "0000396509" "ACVR1" "0000396510" "ACVR1" "0000396511" "ACVR1" "0000396512" "ACVR1" "0000396513" "ACVR1" "0000396514" "ACVR1" "0000396515" "ACVR1" "0000396516" "ACVR1" "0000396517" "ACVR1" "0000396518" "ACVR1" "0000396519" "ACVR1" "0000396520" "ACVR1" "0000396521" "ACVR1" "0000396522" "ACVR1" "0000396523" "ACVR1" "0000396524" "ACVR1" "0000396525" "ACVR1" "0000396526" "ACVR1" "0000396527" "ACVR1" "0000396528" "ACVR1" "0000396529" "ACVR1" "0000396530" "ACVR1" "0000396531" "ACVR1" "0000396532" "ACVR1" "0000396533" "ACVR1" "0000396534" "ACVR1" "0000396535" "ACVR1" "0000396536" "ACVR1" "0000396537" "ACVR1" "0000396538" "ACVR1" "0000396539" "ACVR1" "0000396540" "ACVR1" "0000396541" "ACVR1" "0000396542" "ACVR1" "0000396543" "ACVR1" "0000396544" "ACVR1" "0000396545" "ACVR1" "0000396546" "ACVR1" "0000396547" "ACVR1" "0000396548" "ACVR1" "0000396549" "ACVR1" "0000396550" "ACVR1" "0000396551" "ACVR1" "0000396552" "ACVR1" "0000396553" "ACVR1" "0000396554" "ACVR1" "0000396555" "ACVR1" "0000396556" "ACVR1" "0000396557" "ACVR1" "0000396558" "ACVR1" "0000396559" "ACVR1" "0000396560" "ACVR1" "0000396561" "ACVR1" "0000396562" "ACVR1" "0000396563" "ACVR1" "0000396564" "ACVR1" "0000396565" "ACVR1" "0000396566" "ACVR1" "0000396567" "ACVR1" "0000396568" "ACVR1" "0000396569" "ACVR1" "0000396570" "ACVR1" "0000396571" "ACVR1" "0000396572" "ACVR1" "0000396573" "ACVR1" "0000396574" "ACVR1" "0000396575" "ACVR1" "0000396576" "ACVR1" "0000396577" "ACVR1" "0000396578" "ACVR1" "0000396579" "ACVR1" "0000396580" "ACVR1" "0000396581" "ACVR1" "0000396582" "ACVR1" "0000396583" "ACVR1" "0000396584" "ACVR1" "0000396585" "ACVR1" "0000396586" "ACVR1" "0000396587" "ACVR1" "0000396588" "ACVR1" "0000396589" "ACVR1" "0000396590" "ACVR1" "0000396591" "ACVR1" "0000396592" "ACVR1" "0000396593" "ACVR1" "0000396594" "ACVR1" "0000396595" "ACVR1" "0000396596" "ACVR1" "0000396597" "ACVR1" "0000396598" "ACVR1" "0000396599" "ACVR1" "0000396600" "ACVR1" "0000396601" "ACVR1" "0000396602" "ACVR1" "0000396603" "ACVR1" "0000396604" "ACVR1" "0000396605" "ACVR1" "0000396606" "ACVR1" "0000396607" "ACVR1" "0000396608" "ACVR1" "0000396609" "ACVR1" "0000396610" "ACVR1" "0000396611" "ACVR1" "0000396612" "ACVR1" "0000396613" "ACVR1" "0000396614" "ACVR1" "0000396615" "ACVR1" "0000396616" "ACVR1" "0000396617" "ACVR1" "0000396618" "ACVR1" "0000396619" "ACVR1" "0000396620" "ACVR1" "0000396621" "ACVR1" "0000396622" "ACVR1" "0000396623" "ACVR1" "0000396624" "ACVR1" "0000396625" "ACVR1" "0000396626" "ACVR1" "0000396627" "ACVR1" "0000396628" "ACVR1" "0000396629" "ACVR1" "0000396630" "ACVR1" "0000396631" "ACVR1" "0000396632" "ACVR1" "0000396633" "ACVR1" "0000396634" "ACVR1" "0000396635" "ACVR1" "0000396636" "ACVR1" "0000396637" "ACVR1" "0000396858" "ACVR1" ## 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 = 197 "{{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}}" "0000258921" "0" "10" "2" "158636910" "158636910" "subst" "0.762943" "02325" "ACVR1_000021" "g.158636910G>A" "" "" "" "ACVR1(NM_001105.5):c.270C>T (p.A90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157780398G>A" "" "benign" "" "0000258922" "0" "10" "2" "158626980" "158626980" "subst" "0.96951" "02325" "ACVR1_000020" "g.158626980C>T" "" "" "" "ACVR1(NM_001105.5):c.690G>A (p.E230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157770468C>T" "" "benign" "" "0000261932" "0" "90" "2" "158630626" "158630626" "subst" "0" "01943" "ACVR1_000005" "g.158630626C>T" "" "" "" "ACVR1(NM_001105.4):c.617G>A (p.R206H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic" "" "0000327399" "0" "50" "2" "158626951" "158626951" "subst" "0" "01804" "ACVR1_000019" "g.158626951C>G" "" "" "" "ACVR1(NM_001105.4):c.719G>C (p.(Arg240Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157770439C>G" "" "VUS" "" "0000327400" "0" "50" "2" "158655993" "158655993" "subst" "4.06676E-6" "01804" "ACVR1_000022" "g.158655993C>T" "" "" "" "ACVR1(NM_001105.4):c.13G>A (p.(Val5Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157799481C>T" "" "VUS" "" "0000327401" "0" "50" "2" "158655995" "158655995" "subst" "0" "01804" "ACVR1_000023" "g.158655995C>G" "" "" "" "ACVR1(NM_001105.4):c.11G>C (p.(Gly4Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157799483C>G" "" "VUS" "" "0000434739" "0" "55" "2" "158655962" "158655962" "subst" "0.0105274" "00000" "ACVR1_000001" "g.158655962G>C" "" "{PMID:Bocciardi R, et al., 2009:18830232} {PMID:Smith KA, et al., 2009:19506109}" "" "" "" "Germline" "no" "" "0" "" "" "g.157799450G>C" "" "VUS" "" "0000434743" "21" "90" "2" "158630626" "158630626" "subst" "0" "00000" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline" "yes" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000434746" "0" "90" "2" "158626896" "158626896" "subst" "0" "00000" "ACVR1_000008" "g.158626896C>A" "" "{PMID:Ratbi 2010:19795179}" "" "" "" "De novo" "" "" "0" "" "" "g.157770384C>A" "" "pathogenic (dominant)" "" "0000434747" "11" "90" "2" "158622643" "158622643" "subst" "8.13253E-6" "00000" "ACVR1_000009" "g.158622643G>T" "" "{PMID:Joziasse 2011:21248739}" "" "" "in vitro/in vivo (zebra fish) assays show reduced BMP-inductive capacity and mild dominant-interfering effect on BMP signaling" "Germline" "no" "" "0" "" "" "g.157766131G>T" "" "likely pathogenic" "" "0000434748" "11" "75" "2" "158622579" "158622579" "subst" "4.06388E-6" "00000" "ACVR1_000010" "g.158622579C>A" "" "{PMID:Smith KA, et al., 2009:19506109}" "" "" "" "Germline" "no" "" "0" "" "" "g.157766067C>A" "" "likely pathogenic" "" "0000434749" "0" "75" "2" "158622525" "158622525" "subst" "0" "00000" "ACVR1_000011" "g.158622525C>G" "" "{PMID:Whyte MP, et al., 2012:22131272}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.157766013C>G" "" "likely pathogenic" "" "0000434753" "0" "90" "2" "158622516" "158622516" "subst" "0" "00000" "ACVR1_000015" "g.158622516C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157766004C>T" "" "pathogenic (dominant)" "" "0000434754" "11" "90" "2" "158622471" "158622471" "subst" "0" "00000" "ACVR1_000016" "g.158622471A>G" "" "{PMID:Smith 2009:19506109}" "" "" "impaired functional activity in in vitro kinase and bone morphogenetic protein-specific transcriptional response assays, dominant-interfering activity in vivo, injected zebrafish embryos showed improper atrioventricular canal formation" "Germline" "" "" "0" "" "" "g.157765959A>G" "" "pathogenic" "" "0000509705" "0" "10" "2" "158594060" "158594060" "subst" "0.00569305" "02327" "ACVR1_000024" "g.158594060A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157737548A>G" "" "benign" "" "0000509706" "0" "30" "2" "158594124" "158594124" "subst" "3.65904E-5" "02327" "ACVR1_000025" "g.158594124G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157737612G>A" "" "likely benign" "" "0000509707" "0" "10" "2" "158617525" "158617525" "subst" "0.00487999" "02327" "ACVR1_000026" "g.158617525G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157761013G>A" "" "benign" "" "0000509708" "0" "30" "2" "158627029" "158627029" "subst" "4.4823E-5" "01943" "ACVR1_000027" "g.158627029A>G" "" "" "" "ACVR1(NM_001105.4):c.644-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157770517A>G" "" "likely benign" "" "0000509709" "0" "50" "2" "158630600" "158630600" "subst" "0" "02329" "ACVR1_000028" "g.158630600C>T" "" "" "" "ACVR1(NM_001105.4):c.643G>A (p.G215R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157774088C>T" "" "VUS" "" "0000509710" "0" "30" "2" "158630601" "158630601" "subst" "6.10565E-5" "01804" "ACVR1_000029" "g.158630601G>A" "" "" "" "ACVR1(NM_001105.4):c.642C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157774089G>A" "" "likely benign" "" "0000509711" "0" "50" "2" "158630605" "158630605" "subst" "4.07027E-6" "01943" "ACVR1_000030" "g.158630605C>G" "" "" "" "ACVR1(NM_001105.4):c.638G>C (p.C213S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157774093C>G" "" "VUS" "" "0000509712" "0" "50" "2" "158630640" "158630640" "subst" "8.13233E-6" "02327" "ACVR1_000031" "g.158630640T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157774128T>C" "" "VUS" "" "0000509714" "0" "30" "2" "158637039" "158637039" "subst" "0.000361774" "01804" "ACVR1_000033" "g.158637039G>C" "" "" "" "ACVR1(NM_001105.4):c.141C>G (p.(His47Gln)), ACVR1(NM_001105.5):c.141C>G (p.H47Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157780527G>C" "" "likely benign" "" "0000509715" "0" "30" "2" "158655962" "158655962" "subst" "0.0105274" "01804" "ACVR1_000001" "g.158655962G>C" "" "" "" "ACVR1(NM_001105.4):c.44C>G (p.(Ala15Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157799450G>C" "" "likely benign" "" "0000509716" "0" "50" "2" "158656005" "158656005" "subst" "4.47365E-5" "02327" "ACVR1_000034" "g.158656005T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157799493T>C" "" "VUS" "" "0000606152" "0" "50" "2" "158594947" "158594947" "subst" "5.28168E-5" "01943" "ACVR1_000035" "g.158594947C>T" "" "" "" "ACVR1(NM_001105.4):c.1395+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157738435C>T" "" "VUS" "" "0000606153" "0" "50" "2" "158622545" "158622545" "subst" "0" "01804" "ACVR1_000036" "g.158622545A>C" "" "" "" "ACVR1(NM_001105.4):c.954T>G (p.(His318Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157766033A>C" "" "VUS" "" "0000606154" "0" "30" "2" "158656000" "158656000" "subst" "0" "02327" "ACVR1_000037" "g.158656000T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157799488T>C" "" "likely benign" "" "0000654227" "0" "50" "2" "158622643" "158622643" "subst" "8.13253E-6" "01943" "ACVR1_000009" "g.158622643G>T" "" "" "" "ACVR1(NM_001105.4):c.856C>A (p.H286N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157766131G>T" "" "VUS" "" "0000676052" "0" "30" "2" "158617570" "158617570" "subst" "0.00109077" "01943" "ACVR1_000038" "g.158617570G>T" "" "" "" "ACVR1(NM_001105.4):c.1086C>A (p.S362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676053" "0" "30" "2" "158637053" "158637053" "subst" "0.000191079" "01943" "ACVR1_000039" "g.158637053C>T" "" "" "" "ACVR1(NM_001105.4):c.127G>A (p.G43S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729817" "0" "90" "2" "158630626" "158630626" "subst" "0" "00000" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001105.4:c.617G>A:p.(Arg206His)" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828134" "0" "90" "2" "158626898" "158626898" "subst" "0" "01411" "ACVR1_000040" "g.158626898T>C" "" "{PMID:Hasegawa 2022:36060212}" "" "" "" "De novo" "" "" "0" "" "" "g.157770386T>C" "" "pathogenic (dominant)" "" "0000828135" "21" "90" "2" "158630626" "158630626" "subst" "0" "00000" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline" "yes" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828136" "11" "90" "2" "158630626" "158630626" "subst" "0" "00000" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline" "yes" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828137" "11" "90" "2" "158630626" "158630626" "subst" "0" "00000" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline" "yes" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828138" "11" "90" "2" "158630626" "158630626" "subst" "0" "00000" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline" "yes" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828139" "11" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline" "yes" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828140" "11" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline" "yes" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828141" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828142" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828143" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828144" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828145" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828146" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828147" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828148" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828149" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828150" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828151" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828152" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828153" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828154" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828155" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828156" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828157" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828158" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828159" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828160" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828161" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828162" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828163" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828164" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828165" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828166" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828167" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828168" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828169" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828170" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828171" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828172" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Shore 2006:16642017}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828173" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Lin 2006:17077940}" "HphI+;Cac8I-" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828174" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Nakajima 2007:17351709}" "HphI+;Cac8I-" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828175" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Nakajima 2007:17351709}" "HphI+;Cac8I-" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828176" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Nakajima 2007:17351709}" "HphI+;Cac8I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828177" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828178" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828179" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828180" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828181" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828182" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828183" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828184" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828185" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828186" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828187" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828188" "0" "90" "2" "158626896" "158626896" "subst" "0" "00006" "ACVR1_000007" "g.158626896C>G" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157770384C>G" "" "pathogenic (dominant)" "" "0000828189" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828190" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828191" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828192" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828193" "0" "90" "2" "158626896" "158626896" "subst" "0" "00006" "ACVR1_000007" "g.158626896C>G" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157770384C>G" "" "pathogenic (dominant)" "" "0000828194" "1" "30" "2" "158655962" "158655962" "subst" "0.0105274" "00006" "ACVR1_000001" "g.158655962G>C" "" "{PMID:Bocciardi 2009:18830232}" "" "" "" "Germline" "" "rs13406336" "0" "" "" "" "" "likely benign" "" "0000828195" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "high resolution karyotype normal" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828196" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "high resolution karyotype normal" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828197" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "high resolution karyotype normal" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828198" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "high resolution karyotype normal" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828199" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "high resolution karyotype normal" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828200" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "high resolution karyotype normal" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828201" "0" "90" "2" "158630624" "158630624" "subst" "0" "00006" "ACVR1_000006" "g.158630624G>C" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774112G>C" "" "pathogenic (dominant)" "" "0000828202" "0" "90" "2" "158622517" "158622517" "subst" "0" "00006" "ACVR1_000012" "g.158622517C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157766005C>T" "" "pathogenic (dominant)" "" "0000828203" "0" "90" "2" "158622517" "158622517" "subst" "0" "00006" "ACVR1_000012" "g.158622517C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157766005C>T" "" "pathogenic (dominant)" "" "0000828204" "21" "90" "2" "158622517" "158622517" "subst" "0" "00006" "ACVR1_000012" "g.158622517C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline" "" "" "0" "" "" "g.157766005C>T" "" "pathogenic (dominant)" "" "0000828205" "21" "90" "2" "158622517" "158622517" "subst" "0" "00006" "ACVR1_000012" "g.158622517C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline" "" "" "0" "" "" "g.157766005C>T" "" "pathogenic (dominant)" "" "0000828206" "0" "90" "2" "158622517" "158622517" "subst" "0" "00006" "ACVR1_000013" "g.158622517C>G" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157766005C>G" "" "pathogenic (dominant)" "" "0000828207" "0" "90" "2" "158622517" "158622517" "subst" "0" "00006" "ACVR1_000014" "g.158622517C>A" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "high resolution karyotype normal" "g.157766005C>A" "" "pathogenic (dominant)" "" "0000828208" "0" "90" "2" "158622517" "158622517" "subst" "0" "00006" "ACVR1_000014" "g.158622517C>A" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "high resolution karyotype normal" "g.157766005C>A" "" "pathogenic (dominant)" "" "0000828209" "0" "90" "2" "158622516" "158622516" "subst" "0" "00006" "ACVR1_000015" "g.158622516C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "high resolution karyotype normal" "g.157766004C>T" "" "pathogenic (dominant)" "" "0000828210" "0" "90" "2" "158622516" "158622516" "subst" "0" "00006" "ACVR1_000015" "g.158622516C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "high resolution karyotype normal" "g.157766004C>T" "" "pathogenic (dominant)" "" "0000828211" "0" "90" "2" "158617589" "158617589" "subst" "0" "00006" "ACVR1_000017" "g.158617589C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157761077C>T" "" "pathogenic (dominant)" "" "0000828212" "0" "90" "2" "158617589" "158617589" "subst" "0" "00006" "ACVR1_000017" "g.158617589C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "high resolution karyotype normal" "g.157761077C>T" "" "pathogenic (dominant)" "" "0000828213" "0" "90" "2" "158617589" "158617589" "subst" "0" "00006" "ACVR1_000017" "g.158617589C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "high resolution karyotype normal" "g.157761077C>T" "" "pathogenic (dominant)" "" "0000828214" "0" "90" "2" "158617589" "158617589" "subst" "0" "00006" "ACVR1_000017" "g.158617589C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157761077C>T" "" "pathogenic (dominant)" "" "0000828215" "0" "90" "2" "158617532" "158617532" "subst" "0" "00006" "ACVR1_000018" "g.158617532C>G" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157761020C>G" "" "pathogenic (dominant)" "" "0000828216" "0" "90" "2" "158630651" "158630653" "del" "0" "00006" "ACVR1_000003" "g.158630651_158630653del" "" "{PMID:Kaplan 2019:19085907}" "" "590_592delCTT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774139_157774141del" "" "pathogenic (dominant)" "" "0000828217" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Kaplan 2019:19085907}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828218" "0" "90" "2" "158617589" "158617589" "subst" "0" "00006" "ACVR1_000017" "g.158617589C>T" "" "{PMID:Furuya 2008:18203193}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000828219" "0" "90" "2" "158630638" "158630638" "subst" "0" "00006" "ACVR1_000004" "g.158630638C>A" "" "{PMID:Petrie 2009:19330033}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000828220" "0" "90" "2" "158622516" "158622516" "subst" "0" "00006" "ACVR1_000015" "g.158622516C>T" "" "{PMID:Petrie 2009:19330033}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000828221" "0" "90" "2" "158630638" "158630638" "subst" "0" "00006" "ACVR1_000004" "g.158630638C>A" "" "{PMID:Barnett 2011:21567927}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000828222" "0" "90" "2" "158630656" "158630656" "subst" "0" "00006" "ACVR1_000002" "g.158630656A>G" "" "{PMID:Gregson 2011:21044902}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000828223" "0" "90" "2" "158630656" "158630656" "subst" "0" "00006" "ACVR1_000002" "g.158630656A>G" "" "{PMID:Nakahara 2014:24259422}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000828224" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Sun 2009:19300893}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000828225" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Sun 2009:19300893}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000828226" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Lee 2009:19543505}" "Cac8I-;HphI+" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828227" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Lee 2009:19543505}" "Cac8I-;HphI+" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828228" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Lee 2009:19543505}" "Cac8I-;HphI+" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828229" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Lee 2009:19543505}" "Cac8I-;HphI+" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828230" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Lee 2009:19543505}" "Cac8I-;HphI+" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828231" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Lee 2009:19543505}" "Cac8I-;HphI+" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828232" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Lee 2009:19543505}" "Cac8I-;HphI+" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828233" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Lee 2009:19543505}" "Cac8I-;HphI+" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828234" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Lee 2009:19543505}" "Cac8I-;HphI+" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828235" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Lee 2009:19543505}" "Cac8I-;HphI+" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828236" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Lee 2009:19543505}" "Cac8I-;HphI+" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828237" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Lee 2009:19543505}" "Cac8I-;HphI+" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828238" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Guo 2010:20736820}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000828239" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Guo 2010:20736820}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000828240" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Dandara 2012:22748444}" "Cac8I-;HphI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828241" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Dandara 2012:22748444}" "Cac8I-;HphI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828242" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Dandara 2012:22748444}" "Cac8I-;HphI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828243" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Dandara 2012:22748444}" "Cac8I-;HphI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828244" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Dandara 2012:22748444}" "Cac8I-;HphI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828245" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Dandara 2012:22748444}" "Cac8I-;HphI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828246" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828247" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828248" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828249" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828250" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828251" "0" "90" "2" "158626896" "158626896" "subst" "0" "00006" "ACVR1_000007" "g.158626896C>G" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157770384C>G" "" "pathogenic (dominant)" "" "0000828252" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828253" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828254" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828255" "0" "90" "2" "158626896" "158626896" "subst" "0" "00006" "ACVR1_000008" "g.158626896C>A" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157770384C>A" "" "pathogenic (dominant)" "" "0000828256" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828257" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828258" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828259" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828260" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828261" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Morales-Piga 2012:22796417}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828262" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Eresen Yazıcıoglu 2013:23260810}" "HphI+" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828263" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Eresen Yazıcıoglu 2013:23260810}" "HphI+" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828264" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Eresen Yazıcıoglu 2013:23260810}" "HphI+" "" "" "De novo" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828265" "0" "90" "2" "158626896" "158626896" "subst" "0" "00006" "ACVR1_000008" "g.158626896C>A" "" "{PMID:Eresen Yazıcıoglu 2013:23260810}" "" "" "" "De novo" "" "" "0" "" "" "g.157770384C>A" "" "pathogenic (dominant)" "" "0000828266" "3" "10" "2" "158626980" "158626980" "subst" "0.96951" "00006" "ACVR1_000020" "g.158626980C>T" "" "{PMID:Eresen Yazıcıoglu 2013:23260810}" "" "" "" "Germline" "" "rs1146031" "0" "" "" "g.157770468C>T" "" "benign" "" "0000828267" "11" "10" "2" "158593905" "158593905" "subst" "0" "00006" "ACVR1_000041" "g.158593905C>T" "" "{PMID:Eresen Yazıcıoglu 2013:23260810}" "" "" "" "Germline" "" "rs2228948" "0" "" "" "g.157737393C>T" "" "benign" "" "0000828268" "3" "10" "2" "158636910" "158636910" "subst" "0.762943" "00006" "ACVR1_000021" "g.158636910G>A" "" "{PMID:Eresen Yazıcıoglu 2013:23260810}" "" "" "" "Germline" "" "rs2227861" "0" "" "" "g.157780398G>A" "" "benign" "" "0000828269" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Al-Haggar 2013:23424689}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000828270" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828271" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828272" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828273" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828274" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828275" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828276" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828277" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828278" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828279" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828280" "11" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828281" "11" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828282" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828283" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828284" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828285" "0" "90" "2" "158630626" "158630626" "subst" "0" "00006" "ACVR1_000005" "g.158630626C>T" "" "{PMID:Carvalho 2010:19796185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157774114C>T" "" "pathogenic (dominant)" "" "0000828288" "0" "50" "2" "158622643" "158622643" "subst" "8.13253E-6" "00006" "ACVR1_000009" "g.158622643G>T" "" "{PMID:Joziasse 2011:21248739}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000828559" "0" "90" "2" "158630626" "158630626" "subst" "0" "01164" "ACVR1_000005" "g.158630626C>T" "" "PMID: 17077940, 16642017, 17272450, 22977237, 22508565, 22351757, 21525719, 19085907, 18830232, 17351709," "" "" "ACMG: PS2, PS3, PS4, PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000883801" "0" "50" "2" "158594104" "158594104" "subst" "8.13173E-6" "02325" "ACVR1_000042" "g.158594104C>T" "" "" "" "ACVR1(NM_001105.5):c.1469G>A (p.R490H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883802" "0" "50" "2" "158617452" "158617452" "subst" "4.06342E-6" "02325" "ACVR1_000043" "g.158617452C>T" "" "" "" "ACVR1(NM_001105.5):c.1204G>A (p.V402I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883803" "0" "30" "2" "158634797" "158634797" "subst" "0" "01804" "ACVR1_000044" "g.158634797G>C" "" "" "" "ACVR1(NM_001105.4):c.389C>G (p.(Ser130Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911204" "0" "30" "2" "158637039" "158637039" "subst" "0.000361774" "02325" "ACVR1_000033" "g.158637039G>C" "" "" "" "ACVR1(NM_001105.4):c.141C>G (p.(His47Gln)), ACVR1(NM_001105.5):c.141C>G (p.H47Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947369" "0" "50" "2" "158626924" "158626924" "subst" "1.62582E-5" "01804" "ACVR1_000045" "g.158626924G>A" "" "" "" "ACVR1(NM_001105.4):c.746C>T (p.(Thr249Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961374" "0" "30" "2" "158634702" "158634702" "subst" "8.5377E-5" "02325" "ACVR1_000046" "g.158634702C>T" "" "" "" "ACVR1(NM_001105.5):c.484G>A (p.V162M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974368" "0" "30" "2" "158622779" "158622779" "subst" "0" "01804" "ACVR1_000047" "g.158622779C>A" "" "" "" "ACVR1(NM_001111067.4):c.791-71G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991684" "0" "50" "2" "158630607" "158630607" "subst" "4.88444E-5" "01804" "ACVR1_000049" "g.158630607C>G" "" "" "" "ACVR1(NM_001111067.2):c.636G>C (p.(Glu212Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991685" "0" "50" "2" "158630680" "158630680" "subst" "4.06745E-6" "01804" "ACVR1_000050" "g.158630680C>T" "" "" "" "ACVR1(NM_001111067.2):c.563G>A (p.(Cys188Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032437" "0" "50" "2" "158634674" "158634674" "subst" "0" "01804" "ACVR1_000051" "g.158634674A>G" "" "" "" "ACVR1(NM_001111067.4):c.512T>C (p.(Ile171Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032438" "0" "30" "2" "158683178" "158683178" "del" "0" "01804" "ACVR1_000052" "g.158683178del" "" "" "" "ACVR1(NM_001347664.1):c.-301-6del" "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 ACVR1 ## Count = 248 "{{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}}" "0000258921" "00025660" "10" "270" "0" "270" "0" "c.270C>T" "r.(?)" "p.(Ala90=)" "" "0000258921" "00002047" "10" "270" "0" "270" "0" "c.270C>T" "r.(?)" "p.(Ala90=)" "" "0000258922" "00025660" "10" "690" "0" "690" "0" "c.690G>A" "r.(?)" "p.(Glu230=)" "" "0000258922" "00002047" "10" "690" "0" "690" "0" "c.690G>A" "r.(?)" "p.(Glu230=)" "" "0000261932" "00025660" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000261932" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000327399" "00025660" "50" "719" "0" "719" "0" "c.719G>C" "r.(?)" "p.(Arg240Pro)" "" "0000327399" "00002047" "50" "719" "0" "719" "0" "c.719G>C" "r.(?)" "p.(Arg240Pro)" "" "0000327400" "00025660" "50" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Val5Met)" "" "0000327400" "00002047" "50" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Val5Met)" "" "0000327401" "00025660" "50" "11" "0" "11" "0" "c.11G>C" "r.(?)" "p.(Gly4Ala)" "" "0000327401" "00002047" "50" "11" "0" "11" "0" "c.11G>C" "r.(?)" "p.(Gly4Ala)" "" "0000434739" "00002047" "55" "44" "0" "44" "0" "c.44C>G" "r.44c>g" "p.Ala15Gly" "1" "0000434743" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.617g>a" "p.Arg206His" "6" "0000434746" "00002047" "90" "774" "0" "774" "0" "c.774G>T" "r.(?)" "p.(Arg258Ser)" "7" "0000434747" "00002047" "90" "856" "0" "856" "0" "c.856C>A" "r.(?)" "p.(His286Asp)" "8" "0000434748" "00002047" "75" "920" "0" "920" "0" "c.920G>T" "r.(?)" "p.(Arg307Leu)" "8" "0000434749" "00002047" "75" "974" "0" "974" "0" "c.974G>C" "r.(?)" "p.(Gly325Ala)" "8" "0000434753" "00002047" "90" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Gly328Glu)" "8" "0000434754" "00002047" "90" "1028" "0" "1028" "0" "c.1028T>C" "r.(?)" "p.(Leu343Pro)" "8" "0000509705" "00025660" "10" "1513" "0" "1513" "0" "c.1513T>C" "r.(?)" "p.(Leu505=)" "" "0000509705" "00002047" "10" "1513" "0" "1513" "0" "c.1513T>C" "r.(?)" "p.(Leu505=)" "" "0000509706" "00025660" "30" "1449" "0" "1449" "0" "c.1449C>T" "r.(?)" "p.(Ser483=)" "" "0000509706" "00002047" "30" "1449" "0" "1449" "0" "c.1449C>T" "r.(?)" "p.(Ser483=)" "" "0000509707" "00025660" "10" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Gly377=)" "" "0000509707" "00002047" "10" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Gly377=)" "" "0000509708" "00025660" "30" "644" "-3" "644" "-3" "c.644-3T>C" "r.spl?" "p.?" "" "0000509708" "00002047" "30" "644" "-3" "644" "-3" "c.644-3T>C" "r.spl?" "p.?" "" "0000509709" "00025660" "50" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Gly215Arg)" "" "0000509709" "00002047" "50" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Gly215Arg)" "" "0000509710" "00025660" "30" "642" "0" "642" "0" "c.642C>T" "r.(?)" "p.(Val214=)" "" "0000509710" "00002047" "30" "642" "0" "642" "0" "c.642C>T" "r.(?)" "p.(Val214=)" "" "0000509711" "00025660" "50" "638" "0" "638" "0" "c.638G>C" "r.(?)" "p.(Cys213Ser)" "" "0000509711" "00002047" "50" "638" "0" "638" "0" "c.638G>C" "r.(?)" "p.(Cys213Ser)" "" "0000509712" "00025660" "50" "603" "0" "603" "0" "c.603A>G" "r.(?)" "p.(Gln201=)" "" "0000509712" "00002047" "50" "603" "0" "603" "0" "c.603A>G" "r.(?)" "p.(Gln201=)" "" "0000509714" "00025660" "30" "141" "0" "141" "0" "c.141C>G" "r.(?)" "p.(His47Gln)" "" "0000509714" "00002047" "30" "141" "0" "141" "0" "c.141C>G" "r.(?)" "p.(His47Gln)" "" "0000509715" "00025660" "30" "44" "0" "44" "0" "c.44C>G" "r.(?)" "p.(Ala15Gly)" "" "0000509715" "00002047" "30" "44" "0" "44" "0" "c.44C>G" "r.(?)" "p.(Ala15Gly)" "" "0000509716" "00025660" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000509716" "00002047" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000606152" "00025660" "50" "1395" "5" "1395" "5" "c.1395+5G>A" "r.spl?" "p.?" "" "0000606152" "00002047" "50" "1395" "5" "1395" "5" "c.1395+5G>A" "r.spl?" "p.?" "" "0000606153" "00025660" "50" "954" "0" "954" "0" "c.954T>G" "r.(?)" "p.(His318Gln)" "" "0000606153" "00002047" "50" "954" "0" "954" "0" "c.954T>G" "r.(?)" "p.(His318Gln)" "" "0000606154" "00025660" "30" "6" "0" "6" "0" "c.6A>G" "r.(?)" "p.(Val2=)" "" "0000606154" "00002047" "30" "6" "0" "6" "0" "c.6A>G" "r.(?)" "p.(Val2=)" "" "0000654227" "00025660" "50" "856" "0" "856" "0" "c.856C>A" "r.(?)" "p.(His286Asn)" "" "0000654227" "00002047" "50" "856" "0" "856" "0" "c.856C>A" "r.(?)" "p.(His286Asn)" "" "0000676052" "00025660" "30" "1086" "0" "1086" "0" "c.1086C>A" "r.(?)" "p.(Ser362=)" "" "0000676052" "00002047" "30" "1086" "0" "1086" "0" "c.1086C>A" "r.(?)" "p.(Ser362=)" "" "0000676053" "00025660" "30" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Gly43Ser)" "" "0000676053" "00002047" "30" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Gly43Ser)" "" "0000729817" "00025660" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000729817" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828134" "00002047" "90" "772" "0" "772" "0" "c.772A>G" "r.(?)" "p.(Arg258Gly)" "" "0000828135" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "6" "0000828136" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828137" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828138" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828139" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828140" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828141" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828142" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828143" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828144" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828145" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828146" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828147" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828148" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828149" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828150" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828151" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828152" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828153" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828154" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828155" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828156" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828157" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828158" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828159" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828160" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828161" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828162" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828163" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828164" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828165" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828166" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828167" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828168" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828169" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828170" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828171" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828172" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828173" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828174" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828175" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828176" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(617g>a)" "p.(Arg206His)" "6" "0000828177" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828178" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828179" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828180" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828181" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828182" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828183" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828184" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828185" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828186" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828187" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828188" "00002047" "90" "774" "0" "774" "0" "c.774G>C" "r.(?)" "p.(Arg258Ser)" "" "0000828189" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828190" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828191" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828192" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828193" "00002047" "90" "774" "0" "774" "0" "c.774G>C" "r.(?)" "p.(Arg258Ser)" "" "0000828194" "00025660" "30" "44" "0" "44" "0" "c.44C>G" "r.(?)" "p.(Ala15Gly)" "" "0000828194" "00002047" "30" "44" "0" "44" "0" "c.44C>G" "r.(?)" "p.(Ala15Gly)" "" "0000828195" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828196" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828197" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828198" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828199" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828200" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828201" "00002047" "90" "619" "0" "619" "0" "c.619C>G" "r.(?)" "p.(Gln207Glu)" "" "0000828202" "00002047" "90" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Arg)" "" "0000828203" "00002047" "90" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Arg)" "" "0000828204" "00002047" "90" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Arg)" "" "0000828205" "00002047" "90" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Arg)" "" "0000828206" "00002047" "90" "982" "0" "982" "0" "c.982G>C" "r.(?)" "p.(Gly328Arg)" "" "0000828207" "00002047" "90" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Gly328Trp)" "" "0000828208" "00002047" "90" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Gly328Trp)" "" "0000828209" "00002047" "90" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Gly328Glu)" "" "0000828210" "00002047" "90" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Gly328Glu)" "" "0000828211" "00002047" "90" "1067" "0" "1067" "0" "c.1067G>A" "r.(?)" "p.(Gly356Asp)" "" "0000828212" "00002047" "90" "1067" "0" "1067" "0" "c.1067G>A" "r.(?)" "p.(Gly356Asp)" "" "0000828213" "00002047" "90" "1067" "0" "1067" "0" "c.1067G>A" "r.(?)" "p.(Gly356Asp)" "" "0000828214" "00002047" "90" "1067" "0" "1067" "0" "c.1067G>A" "r.(?)" "p.(Gly356Asp)" "" "0000828215" "00002047" "90" "1124" "0" "1124" "0" "c.1124G>C" "r.(?)" "p.(Arg375Pro)" "" "0000828216" "00002047" "90" "590" "0" "592" "0" "c.590_592del" "r.(?)" "p.(Pro197_Phe198delinsLeu)" "" "0000828217" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828218" "00025660" "90" "1067" "0" "1067" "0" "c.1067G>A" "r.1067g>a" "p.Gly356Asp" "" "0000828218" "00002047" "90" "1067" "0" "1067" "0" "c.1067G>A" "r.1067g>a" "p.Gly356Asp" "" "0000828219" "00025660" "90" "605" "0" "605" "0" "c.605G>T" "r.(?)" "p.(Arg202Ile)" "" "0000828219" "00002047" "90" "605" "0" "605" "0" "c.605G>T" "r.(?)" "p.(Arg202Ile)" "" "0000828220" "00025660" "90" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Gly328Glu)" "" "0000828220" "00002047" "90" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Gly328Glu)" "" "0000828221" "00025660" "90" "605" "0" "605" "0" "c.605G>T" "r.(?)" "p.(Arg202Ile)" "" "0000828221" "00002047" "90" "605" "0" "605" "0" "c.605G>T" "r.(?)" "p.(Arg202Ile)" "" "0000828222" "00025660" "90" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Leu196Pro)" "" "0000828222" "00002047" "90" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Leu196Pro)" "" "0000828223" "00025660" "90" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Leu196Pro)" "" "0000828223" "00002047" "90" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Leu196Pro)" "" "0000828224" "00025660" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828224" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828225" "00025660" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828225" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828226" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828227" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828228" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828229" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828230" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828231" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828232" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828233" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828234" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828235" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828236" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828237" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828238" "00025660" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828238" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828239" "00025660" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828239" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828240" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828241" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828242" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828243" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828244" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828245" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828246" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828247" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828248" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828249" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828250" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828251" "00002047" "90" "774" "0" "774" "0" "c.774G>C" "r.(?)" "p.(Arg258Ser)" "" "0000828252" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828253" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828254" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828255" "00002047" "90" "774" "0" "774" "0" "c.774G>T" "r.(?)" "p.(Arg258Ser)" "" "0000828256" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828257" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828258" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828259" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828260" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828261" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828262" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828263" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828264" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828265" "00002047" "90" "774" "0" "774" "0" "c.774G>T" "r.(?)" "p.(Arg258Ser)" "" "0000828266" "00025660" "10" "690" "0" "690" "0" "c.690G>A" "r.(=)" "p.(=)" "" "0000828266" "00002047" "10" "690" "0" "690" "0" "c.690G>A" "r.(=)" "p.(=)" "" "0000828267" "00025660" "10" "1668" "0" "1668" "0" "c.*138G>A" "r.(=)" "p.(=)" "" "0000828267" "00002047" "10" "1668" "0" "1668" "0" "c.*138G>A" "r.(=)" "p.(=)" "" "0000828268" "00025660" "10" "270" "0" "270" "0" "c.270C>T" "r.(=)" "p.(=)" "" "0000828268" "00002047" "10" "270" "0" "270" "0" "c.270C>T" "r.(=)" "p.(=)" "" "0000828269" "00025660" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828269" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828270" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828271" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828272" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828273" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828274" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828275" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828276" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828277" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828278" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828279" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828280" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828281" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828282" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828283" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828284" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828285" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000828288" "00025660" "50" "856" "0" "856" "0" "c.856C>A" "r.(?)" "p.(His286Asn)" "" "0000828288" "00002047" "50" "856" "0" "856" "0" "c.856C>A" "r.(?)" "p.(His286Asn)" "" "0000828559" "00002047" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000883801" "00025660" "50" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Arg490His)" "" "0000883801" "00002047" "50" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Arg490His)" "" "0000883802" "00025660" "50" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Val402Ile)" "" "0000883802" "00002047" "50" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Val402Ile)" "" "0000883803" "00025660" "30" "389" "0" "389" "0" "c.389C>G" "r.(?)" "p.(Ser130Cys)" "" "0000883803" "00002047" "30" "389" "0" "389" "0" "c.389C>G" "r.(?)" "p.(Ser130Cys)" "" "0000911204" "00025660" "30" "141" "0" "141" "0" "c.141C>G" "r.(?)" "p.(His47Gln)" "" "0000911204" "00002047" "30" "141" "0" "141" "0" "c.141C>G" "r.(?)" "p.(His47Gln)" "" "0000947369" "00025660" "50" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Thr249Met)" "" "0000947369" "00002047" "50" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Thr249Met)" "" "0000961374" "00025660" "30" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Val162Met)" "" "0000961374" "00002047" "30" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Val162Met)" "" "0000974368" "00025660" "30" "791" "-71" "791" "-71" "c.791-71G>T" "r.(=)" "p.(=)" "" "0000974368" "00002047" "30" "791" "-71" "791" "-71" "c.791-71G>T" "r.(=)" "p.(=)" "" "0000991684" "00025660" "50" "636" "0" "636" "0" "c.636G>C" "r.(?)" "p.(Glu212Asp)" "" "0000991684" "00002047" "50" "636" "0" "636" "0" "c.636G>C" "r.(?)" "p.(Glu212Asp)" "" "0000991685" "00025660" "50" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Cys188Tyr)" "" "0000991685" "00002047" "50" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Cys188Tyr)" "" "0001032437" "00025660" "50" "512" "0" "512" "0" "c.512T>C" "r.(?)" "p.(Ile171Thr)" "" "0001032437" "00002047" "50" "512" "0" "512" "0" "c.512T>C" "r.(?)" "p.(Ile171Thr)" "" "0001032438" "00025660" "30" "-182" "-8093" "-182" "-8093" "c.-182-8093del" "r.(=)" "p.(=)" "" "0001032438" "00002047" "30" "-182" "-8093" "-182" "-8093" "c.-182-8093del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 163 "{{screeningid}}" "{{variantid}}" "0000205372" "0000434739" "0000205376" "0000434743" "0000205379" "0000434746" "0000205380" "0000434747" "0000205381" "0000434748" "0000205382" "0000434749" "0000205386" "0000434753" "0000205387" "0000434754" "0000332535" "0000729817" "0000396490" "0000828134" "0000396491" "0000828135" "0000396492" "0000828136" "0000396493" "0000828137" "0000396494" "0000828138" "0000396495" "0000828139" "0000396496" "0000828140" "0000396497" "0000828141" "0000396498" "0000828142" "0000396499" "0000828143" "0000396500" "0000828144" "0000396501" "0000828145" "0000396502" "0000828146" "0000396503" "0000828147" "0000396504" "0000828148" "0000396505" "0000828149" "0000396506" "0000828150" "0000396507" "0000828151" "0000396508" "0000828152" "0000396509" "0000828153" "0000396510" "0000828154" "0000396511" "0000828155" "0000396512" "0000828156" "0000396513" "0000828157" "0000396514" "0000828158" "0000396515" "0000828159" "0000396516" "0000828160" "0000396517" "0000828161" "0000396518" "0000828162" "0000396519" "0000828163" "0000396520" "0000828164" "0000396521" "0000828165" "0000396522" "0000828166" "0000396523" "0000828167" "0000396524" "0000828168" "0000396525" "0000828169" "0000396526" "0000828170" "0000396527" "0000828171" "0000396528" "0000828172" "0000396529" "0000828173" "0000396530" "0000828174" "0000396531" "0000828175" "0000396532" "0000828176" "0000396533" "0000828177" "0000396534" "0000828178" "0000396535" "0000828179" "0000396536" "0000828180" "0000396537" "0000828181" "0000396538" "0000828182" "0000396539" "0000828183" "0000396540" "0000828184" "0000396541" "0000828185" "0000396542" "0000828186" "0000396543" "0000828187" "0000396544" "0000828188" "0000396544" "0000828194" "0000396545" "0000828189" "0000396546" "0000828190" "0000396547" "0000828191" "0000396548" "0000828192" "0000396549" "0000828193" "0000396550" "0000828195" "0000396551" "0000828196" "0000396552" "0000828197" "0000396553" "0000828198" "0000396554" "0000828199" "0000396555" "0000828200" "0000396556" "0000828201" "0000396557" "0000828202" "0000396558" "0000828203" "0000396559" "0000828204" "0000396560" "0000828205" "0000396561" "0000828206" "0000396562" "0000828207" "0000396563" "0000828208" "0000396564" "0000828209" "0000396565" "0000828210" "0000396566" "0000828211" "0000396567" "0000828212" "0000396568" "0000828213" "0000396569" "0000828214" "0000396570" "0000828215" "0000396571" "0000828216" "0000396572" "0000828217" "0000396573" "0000828218" "0000396574" "0000828219" "0000396575" "0000828220" "0000396576" "0000828221" "0000396577" "0000828222" "0000396578" "0000828223" "0000396579" "0000828224" "0000396580" "0000828225" "0000396581" "0000828226" "0000396582" "0000828227" "0000396583" "0000828228" "0000396584" "0000828229" "0000396585" "0000828230" "0000396586" "0000828231" "0000396587" "0000828232" "0000396588" "0000828233" "0000396589" "0000828234" "0000396590" "0000828235" "0000396591" "0000828236" "0000396592" "0000828237" "0000396593" "0000828238" "0000396594" "0000828239" "0000396595" "0000828240" "0000396596" "0000828241" "0000396597" "0000828242" "0000396598" "0000828243" "0000396599" "0000828244" "0000396600" "0000828245" "0000396601" "0000828246" "0000396602" "0000828247" "0000396603" "0000828248" "0000396604" "0000828249" "0000396605" "0000828250" "0000396606" "0000828251" "0000396607" "0000828252" "0000396608" "0000828253" "0000396609" "0000828254" "0000396610" "0000828255" "0000396611" "0000828256" "0000396612" "0000828257" "0000396613" "0000828258" "0000396614" "0000828259" "0000396615" "0000828260" "0000396616" "0000828261" "0000396617" "0000828262" "0000396618" "0000828263" "0000396619" "0000828264" "0000396620" "0000828265" "0000396620" "0000828266" "0000396620" "0000828267" "0000396620" "0000828268" "0000396621" "0000828269" "0000396622" "0000828270" "0000396623" "0000828271" "0000396624" "0000828272" "0000396625" "0000828273" "0000396626" "0000828274" "0000396627" "0000828275" "0000396628" "0000828276" "0000396629" "0000828277" "0000396630" "0000828278" "0000396631" "0000828279" "0000396632" "0000828280" "0000396633" "0000828281" "0000396634" "0000828282" "0000396635" "0000828283" "0000396636" "0000828284" "0000396637" "0000828285" "0000396638" "0000828288" "0000396858" "0000828559"