### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WISP3) # 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}}" "WISP3" "WNT1 inducible signaling pathway protein 3" "6" "q21" "unknown" "NC_000006.11" "UD_132084407726" "" "https://www.LOVD.nl/CCN6" "" "1" "12771" "8838" "603400" "1" "1" "1" "1" "NOTE: gene name changed from WISP3 to CCN6\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/WISP3_codingDNA.html" "1" "" "NOTE: gene name changed from WISP3 to CCN6" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-07-31 14:21:02" "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}}" "00022844" "WISP3" "transcript variant 1" "001" "NM_003880.3" "" "NP_003871.1" "" "" "" "-110" "1131" "1065" "112375278" "112390889" "" "0000-00-00 00:00:00" "" "" "00025690" "WISP3" "transcript variant 3" "003" "NM_198239.1" "" "NP_937882.1" "" "" "" "-136" "1185" "1119" "112375371" "112390889" "00006" "2022-01-29 19:52:21" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01667" "PPRD" "dysplasia, pseudorheumatoid, progressive" "AR" "208230" "" "" "autosomal recessive" "00006" "2014-09-25 23:29:40" "00006" "2022-01-30 12:28:46" "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}}" "WISP3" "01667" ## Individuals ## Do not remove or alter this header ## ## Count = 160 "{{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}}" "00249429" "" "" "" "1" "" "00006" "{PMID:Hurvitz 1999:10471507}, {PMID:Garcia Segarra 2012:22791401}" "family, unaffected heterozygous carrier parents" "" "no" "Italy" "" "0" "" "" "" "Fam1;Pat42" "00249430" "" "" "" "1" "" "00006" "{PMID:Hurvitz 1999:10471507}, {PMID:Garcia Segarra 2012:22791401" "family, unaffected heterozygous carrier parents" "" "no" "Italy" "" "0" "" "" "" "Fam2;Pat37" "00249431" "" "" "" "1" "" "00006" "{PMID:Hurvitz 1999:10471507}" "family, unaffected heterozygous carrier parents" "" "no" "France" "" "0" "" "" "" "Fam3" "00249432" "" "" "" "1" "" "00006" "{PMID:Hurvitz 1999:10471507}" "family, unaffected heterozygous carrier parents" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam4" "00249433" "" "" "" "1" "" "00006" "{PMID:Hurvitz 1999:10471507}" "family, unaffected heterozygous carrier parents" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam5" "00249434" "" "" "" "1" "" "00006" "{PMID:Hurvitz 1999:10471507}" "family, unaffected heterozygous carrier parents" "" "yes" "Jordan" "" "0" "" "" "" "Fam9" "00249435" "" "" "" "1" "" "00006" "{PMID:Hurvitz 1999:10471507}" "family, unaffected heterozygous carrier parents" "" "yes" "Jordan" "" "0" "" "" "" "Fam8" "00249436" "" "" "" "1" "" "00006" "{PMID:Hurvitz 1999:10471507}" "family, unaffected heterozygous carrier parents" "" "no" "United States" "" "0" "" "" "" "Fam11" "00249437" "" "" "" "1" "" "00006" "{PMID:Hurvitz 1999:10471507}" "family, unaffected heterozygous carrier parents" "" "yes" "Iran" "" "0" "" "" "" "Fam12" "00249438" "" "" "" "1" "" "00006" "{PMID:Hurvitz 1999:10471507}" "family, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "Fam6" "00263087" "" "" "" "6" "" "03384" "{PMID:Dalal 2012:22987568}" "4-generation family, 6 affected (4F, 2M), unaffected heterozygous carrier parents/relatives\r\nheterozygous carriers" "F" "yes" "India" "" "0" "" "no response to anti inflammatory drugs" "" "Fam9Pat12" "00263088" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam3" "00263308" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam1" "00263309" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam2" "00263310" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam4" "00263311" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam5" "00263312" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam6" "00263313" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam7" "00263314" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam8" "00263315" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam9" "00263316" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam10" "00263317" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam11" "00263318" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam12" "00263319" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam13" "00263320" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam14" "00263321" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam15" "00263322" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam16" "00263323" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam17" "00263324" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam18" "00263325" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam19" "00263326" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam20" "00263327" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam21" "00263328" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam22" "00263329" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam23" "00263330" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam24" "00263331" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam25" "00263332" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam26" "00263333" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam27" "00263334" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam28" "00263335" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam29" "00263336" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam30" "00263337" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam31" "00263338" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam32" "00263339" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam33" "00263340" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam34" "00263341" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam35" "00263342" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam36" "00263343" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam37" "00263344" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam38" "00263345" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam39" "00263346" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam40" "00263347" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam41" "00263348" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam42" "00263349" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam43" "00263350" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam44" "00263351" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam45" "00263352" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam46" "00263353" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam47" "00263354" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam48" "00263355" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam49" "00263356" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam50" "00263357" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam51" "00263358" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam52" "00263359" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam53" "00263360" "" "" "" "1" "" "03384" "{PMID:Bhavani 2015:25988854}" "" "" "" "India" "" "0" "" "" "" "Fam54" "00263361" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "" "F" "no" "India" "" "0" "" "" "" "Pat1" "00263362" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "" "F" "no" "India" "" "0" "" "" "" "Pat2" "00263363" "" "" "" "2" "" "03384" "{PMID:Dalal 2012:22987568}" "Brother of P4" "M" "yes" "India" "" "0" "" "" "" "Fam3Pat3" "00263364" "" "" "00263363" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "Brother of P3" "M" "yes" "India" "" "0" "" "" "" "Fam3Pat4" "00263365" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "" "F" "yes" "India" "" "0" "" "initial response to anti inflammatory drugs" "" "Pat5" "00263366" "" "" "" "2" "" "03384" "{PMID:Dalal 2012:22987568}" "Son of P7" "M" "yes" "India" "" "0" "" "minimal response to anti inflammatory drugs" "" "Fam5Pat6" "00263367" "" "" "00263366" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "Mother of P6" "F" "yes" "India" "" "0" "" "minimal response to anti inflammatory drugs" "" "Fam5Pat7" "00263368" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "" "M" "yes" "India" "" "0" "" "" "" "Pat8" "00263369" "" "" "" "2" "" "03384" "{PMID:Dalal 2012:22987568}" "Sister of P10" "F" "yes" "India" "" "0" "" "response to anti inflammatory drugs" "" "Fam7Pat9" "00263370" "" "" "00263369" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "Sister of P9" "F" "yes" "India" "" "0" "" "response to anti inflammatory drugs" "" "Fam7Pat10" "00263371" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "" "M" "no" "India" "" "0" "" "mild response to anti inflammatory drugs" "" "Pat11" "00263372" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "" "F" "" "India" "" "0" "" "" "" "Pat12" "00263373" "" "" "" "2" "" "03384" "{PMID:Dalal 2012:22987568}" "Brother of P14" "M" "no" "India" "" "0" "" "minimal response to anti inflammatory drugs" "" "Fam10Pat13" "00263374" "" "" "00263373" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "Brother of P13" "M" "no" "India" "" "0" "" "minimal response to anti inflammatory drugs" "" "Fam10Pat14" "00263375" "" "" "" "2" "" "03384" "{PMID:Dalal 2012:22987568}" "Brother of P16" "M" "yes" "India" "" "0" "" "minimal response to anti inflammatory drugs" "" "Fam11Pat15" "00263376" "" "" "00263375" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "Brother of P15" "M" "yes" "India" "" "0" "" "minimal response to anti inflammatory drugs" "" "Fam11Pat16" "00263377" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "" "M" "yes" "India" "" "0" "" "no response to anti inflammatory drugs" "" "Pat17" "00263378" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "" "M" "yes" "India" "" "0" "" "no response to anti inflammatory drugs" "" "Pat18" "00263379" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "" "M" "no" "India" "" "0" "" "" "" "Pat19" "00263380" "" "" "" "2" "" "03384" "{PMID:Dalal 2012:22987568}" "Brother of P21" "M" "yes" "India" "" "0" "" "no response to anti inflammatory drugs" "" "Fam15Pat20" "00263381" "" "" "00263380" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "Sister of P20" "F" "yes" "India" "" "0" "" "no response to anti inflammatory drugs" "" "Fam15Pat21" "00263382" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "" "M" "no" "India" "" "0" "" "" "" "Pat22" "00263383" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "" "F" "no" "India" "" "0" "" "" "" "Pat23" "00263384" "" "" "" "2" "" "03384" "{PMID:Dalal 2012:22987568}" "Sister of P25" "F" "yes" "India" "" "0" "" "no response to anti inflammatory drugs" "" "Fam18Pat24" "00263385" "" "" "00263384" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "Sister of P24" "F" "yes" "India" "" "0" "" "no response to anti inflammatory drugs" "" "Fam18Pat25" "00263386" "" "" "" "2" "" "03384" "{PMID:Dalal 2012:22987568}" "Brother of P27" "M" "yes" "India" "" "0" "" "no response to anti inflammatory drugs" "" "Fam19Pat26" "00263387" "" "" "00263386" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "Brother of P26" "M" "yes" "India" "" "0" "" "" "" "Fam19Pat27" "00263388" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "Brother of P29" "M" "yes" "India" "" "0" "" "no response to anti inflammatory drugs" "" "Pat28" "00263389" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "Brother of P28" "M" "yes" "India" "" "0" "" "no response to anti inflammatory drugs" "" "Pat29" "00263390" "" "" "" "2" "" "03384" "{PMID:Dalal 2012:22987568}" "Sister of P31" "F" "yes" "India" "" "0" "" "no response to anti inflammatory drugs" "" "Fam21Pat30" "00263391" "" "" "00263390" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "Sister of P30" "F" "yes" "India" "" "0" "" "no response to anti inflammatory drugs" "" "Fam21Pat31" "00263392" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "" "M" "no" "India" "" "0" "" "no response to anti inflammatory drugs" "" "Pat32" "00263393" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "" "M" "no" "India" "" "0" "" "" "" "Pat33" "00263394" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "" "M" "no" "India" "" "0" "" "no response to anti inflammatory drugs" "" "Pat34" "00263395" "" "" "" "1" "" "03384" "{PMID:Dalal 2012:22987568}" "Brother (not included in the study)" "F" "no" "India" "" "0" "" "no response to anti inflammatory drugs" "" "Pat35" "00295463" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331594" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "13DG1478" "00331595" "" "" "" "3" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 3 affected (2F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "12DG1610 , 12DG1651 , 12DG1652" "00401209" "" "" "" "2" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "family, 2 affected sibs" "" "" "Morocco" "" "0" "" "" "" "Pat1" "00401210" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "" "" "0" "" "" "" "Pat2" "00401211" "" "" "" "2" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "family, 2 affected sibs" "" "" "Italy" "" "0" "" "" "" "Pat3" "00401212" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat4" "00401213" "" "" "" "2" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "family, 2 affected sibs" "" "" "Turkey" "" "0" "" "" "" "Pat5" "00401214" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat6" "00401215" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat7" "00401216" "" "" "" "2" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "family, 2 affected sibs" "" "" "Turkey" "" "0" "" "" "" "Pat8" "00401217" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat9" "00401218" "" "" "" "2" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "family, 2 affected sibs" "" "" "Turkey" "" "0" "" "" "" "Pat10" "00401219" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat11" "00401220" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat12" "00401221" "" "" "" "2" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "family, 2 affected sibs" "" "" "Turkey" "" "0" "" "" "" "Pat13" "00401222" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat14" "00401223" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat15" "00401224" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat16" "00401225" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat17" "00401226" "" "" "" "2" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "family, 2 affected sibs" "" "" "Turkey" "" "0" "" "" "" "Pat18" "00401227" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat19" "00401228" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Poland" "" "0" "" "" "" "Pat20" "00401229" "" "" "" "2" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "family, 2 affected sibs" "" "" "Turkey" "" "0" "" "" "" "Pat21" "00401230" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat22" "00401231" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat23" "00401232" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat24" "00401233" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat25" "00401234" "" "" "" "2" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "family, 2 affected sibs" "" "" "Turkey" "" "0" "" "" "" "Pat26" "00401235" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat27" "00401236" "" "" "" "3" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "family, 3 affected sibs" "" "" "Turkey" "" "0" "" "" "" "Pat28" "00401237" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat29" "00401238" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat30" "00401239" "" "" "" "2" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "family, 2 affected sibs" "" "" "Turkey" "" "0" "" "" "" "Pat31" "00401240" "" "" "" "2" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "family, 2 affected sibs" "" "" "Turkey" "" "0" "" "" "" "Pat32" "00401241" "" "" "" "1" "" "00006" "{PMID:Ehl 2004:12819927}, {PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Germany" "" "0" "" "" "" "Pat33" "00401242" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat34" "00401243" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat35" "00401244" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "India" "" "0" "" "" "" "Pat36" "00401245" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Italy" "" "0" "" "" "" "Pat38" "00401246" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Poland" "" "0" "" "" "" "Pat39" "00401247" "" "" "" "2" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "family, 2 affected sibs" "" "" "United States" "" "0" "" "" "" "Pat40" "00401248" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Italy" "" "0" "" "" "" "Pat41" "00401249" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Italy" "" "0" "" "" "" "Pat43" "00401250" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "United States" "" "0" "" "" "" "Pat44" "00401251" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat45" "00401252" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Italy" "" "0" "" "" "" "Pat46" "00401253" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Italy" "" "0" "" "" "" "Pat47" "00401254" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Belgium" "" "0" "" "" "" "Pat48" "00401255" "" "" "" "1" "" "00006" "{PMID:Garcia Segarra 2012:22791401}" "patient" "" "" "Germany" "" "0" "" "" "" "Pat49" "00401256" "" "" "" "3" "" "00006" "{PMID:Delague 2005:16152649}" "4-generation family, 3 affected brothers (3M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Syria" "" "0" "" "" "" "Fam1" "00401257" "" "" "" "4" "" "00006" "{PMID:Delague 2005:16152649}" "5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Syria" "" "0" "" "" "" "Fam2" "00401258" "" "" "" "1" "" "00006" "{PMID:Delague 2005:16152649}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Lebanon" "" "0" "" "" "" "Fam3" "00401259" "" "" "" "2" "" "00006" "{PMID:Delague 2005:16152649}" "4-generation family, 2 affected sisters (2F), unaffected heterozygous carrier parents/relatives" "F" "yes" "Lebanon" "" "0" "" "" "" "Fam4" "00401260" "" "" "" "2" "" "00006" "{PMID:Delague 2005:16152649}" "5-generation family, 2 affected sisters (2F), unaffected heterozygous carrier parents/relatives" "F" "yes" "Syria" "" "0" "" "" "" "Fam5" "00401261" "" "" "" "4" "" "00006" "{PMID:Delague 2005:16152649}" "4-generation family, 4 affected sisters (2F), unaffected heterozygous carrier parents/relatives" "F" "yes" "Syria" "" "0" "" "" "" "Fam6" "00401262" "" "" "" "3" "" "00006" "{PMID:Delague 2005:16152649}" "5-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Palestine" "" "0" "" "" "Bedouin" "Fam7" "00401263" "" "" "" "1" "" "00006" "{PMID:Delague 2005:16152649}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Lebanon" "" "0" "" "" "" "Fam8" "00401264" "" "" "" "2" "" "00006" "{PMID:Delague 2005:16152649}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "yes" "Syria" "" "0" "" "" "" "Fam9" "00419514" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8076" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 160 "{{individualid}}" "{{diseaseid}}" "00249429" "01667" "00249430" "01667" "00249431" "01667" "00249432" "01667" "00249433" "01667" "00249434" "01667" "00249435" "01667" "00249436" "01667" "00249437" "01667" "00249438" "01667" "00263087" "01667" "00263088" "01667" "00263308" "01667" "00263309" "01667" "00263310" "01667" "00263311" "01667" "00263312" "01667" "00263313" "01667" "00263314" "01667" "00263315" "01667" "00263316" "01667" "00263317" "01667" "00263318" "01667" "00263319" "01667" "00263320" "01667" "00263321" "01667" "00263322" "01667" "00263323" "01667" "00263324" "01667" "00263325" "01667" "00263326" "01667" "00263327" "01667" "00263328" "01667" "00263329" "01667" "00263330" "01667" "00263331" "01667" "00263332" "01667" "00263333" "01667" "00263334" "01667" "00263335" "01667" "00263336" "01667" "00263337" "01667" "00263338" "01667" "00263339" "01667" "00263340" "01667" "00263341" "01667" "00263342" "01667" "00263343" "01667" "00263344" "01667" "00263345" "01667" "00263346" "01667" "00263347" "01667" "00263348" "01667" "00263349" "01667" "00263350" "01667" "00263351" "01667" "00263352" "01667" "00263353" "01667" "00263354" "01667" "00263355" "01667" "00263356" "01667" "00263357" "01667" "00263358" "01667" "00263359" "01667" "00263360" "01667" "00263361" "01667" "00263362" "01667" "00263363" "01667" "00263364" "01667" "00263365" "01667" "00263366" "01667" "00263367" "01667" "00263368" "01667" "00263369" "01667" "00263370" "01667" "00263371" "01667" "00263372" "01667" "00263373" "01667" "00263374" "01667" "00263375" "01667" "00263376" "01667" "00263377" "01667" "00263378" "01667" "00263379" "01667" "00263380" "01667" "00263381" "01667" "00263382" "01667" "00263383" "01667" "00263384" "01667" "00263385" "01667" "00263386" "01667" "00263387" "01667" "00263388" "01667" "00263389" "01667" "00263390" "01667" "00263391" "01667" "00263392" "01667" "00263393" "01667" "00263394" "01667" "00263395" "01667" "00295463" "00198" "00331594" "05517" "00331595" "05517" "00401209" "01667" "00401210" "01667" "00401211" "01667" "00401212" "01667" "00401213" "01667" "00401214" "01667" "00401215" "01667" "00401216" "01667" "00401217" "01667" "00401218" "01667" "00401219" "01667" "00401220" "01667" "00401221" "01667" "00401222" "01667" "00401223" "01667" "00401224" "01667" "00401225" "01667" "00401226" "01667" "00401227" "01667" "00401228" "01667" "00401229" "01667" "00401230" "01667" "00401231" "01667" "00401232" "01667" "00401233" "01667" "00401234" "01667" "00401235" "01667" "00401236" "01667" "00401237" "01667" "00401238" "01667" "00401239" "01667" "00401240" "01667" "00401241" "01667" "00401242" "01667" "00401243" "01667" "00401244" "01667" "00401245" "01667" "00401246" "01667" "00401247" "01667" "00401248" "01667" "00401249" "01667" "00401250" "01667" "00401251" "01667" "00401252" "01667" "00401253" "01667" "00401254" "01667" "00401255" "01667" "00401256" "01667" "00401257" "01667" "00401258" "01667" "00401259" "01667" "00401260" "01667" "00401261" "01667" "00401262" "01667" "00401263" "01667" "00401264" "01667" "00419514" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01667, 05517 ## Count = 135 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000188395" "01667" "00249429" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000188396" "01667" "00249430" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000188397" "01667" "00249431" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000188398" "01667" "00249432" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000188399" "01667" "00249433" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000188400" "01667" "00249434" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000188401" "01667" "00249435" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000188402" "01667" "00249436" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000188403" "01667" "00249437" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000188404" "01667" "00249438" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201532" "01667" "00263087" "03384" "Familial, autosomal recessive" "11y" "height 122 (SD-3-4); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; Low back pain; affected joints hands, elbows, hips, knees, feet, spine; no facial dysmorphism; no intellectual disability; Exaggerated lumbar lordosis; platyspondyly; no kyphosis; scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Severe hip disease" "04y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid arthropathy" "" "0000201533" "01667" "00263088" "03384" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid arthropathy" "" "0000201665" "01667" "00263308" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201666" "01667" "00263309" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201667" "01667" "00263310" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201668" "01667" "00263311" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201669" "01667" "00263312" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201670" "01667" "00263313" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201671" "01667" "00263314" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201672" "01667" "00263315" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201673" "01667" "00263316" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201674" "01667" "00263317" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201675" "01667" "00263318" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201676" "01667" "00263319" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201677" "01667" "00263320" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201678" "01667" "00263321" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201679" "01667" "00263322" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201680" "01667" "00263323" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201681" "01667" "00263324" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201682" "01667" "00263325" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201683" "01667" "00263326" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201684" "01667" "00263327" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201685" "01667" "00263328" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201686" "01667" "00263329" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201687" "01667" "00263330" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201688" "01667" "00263331" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201689" "01667" "00263332" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201690" "01667" "00263333" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201691" "01667" "00263334" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201692" "01667" "00263335" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201693" "01667" "00263336" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201694" "01667" "00263337" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201695" "01667" "00263338" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201696" "01667" "00263339" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201697" "01667" "00263340" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201698" "01667" "00263341" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201699" "01667" "00263342" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201700" "01667" "00263343" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201701" "01667" "00263344" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201702" "01667" "00263345" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201703" "01667" "00263346" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201704" "01667" "00263347" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201705" "01667" "00263348" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201706" "01667" "00263349" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201707" "01667" "00263350" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201708" "01667" "00263351" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201709" "01667" "00263352" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201710" "01667" "00263353" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201711" "01667" "00263354" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201712" "01667" "00263355" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201713" "01667" "00263356" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201714" "01667" "00263357" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201715" "01667" "00263358" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201716" "01667" "00263359" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201717" "01667" "00263360" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "progressive pseudorheumatoid dysplasia" "" "0000201718" "01667" "00263361" "03384" "Familial, autosomal recessive" "14y" "height 121.5 (SD-5-6); difficulty walking; muscle weakness; joint pain; no joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, knees, ankles, spine; no intellectual disability; platyspondyly; scoliosis; enlarged femoral epiphyses; no coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities;" "3y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201719" "01667" "00263362" "03384" "Familial, autosomal recessive" "10y" "height 126.5 (SD-2-3); difficulty walking; muscle weakness; no joint pain; joint swelling; joint contractures; affected joints hands, elbows, hips, knees, ankles, feet; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities;" "4y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201720" "01667" "00263363" "03384" "Familial, autosomal recessive" "11y" "height 135 (SD-1-2); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, ankles; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; no coxa vara; epiphyseal irregularities; metaphyseal irregularities;" "1y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201721" "01667" "00263364" "03384" "Familial, autosomal recessive" "10y" "difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, ankles; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; no coxa vara; epiphyseal irregularities; metaphyseal irregularities;" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201722" "01667" "00263365" "03384" "Familial, autosomal recessive" "18y" "height 134 (SD-4-5); difficulty walking; muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, wrists, elbows, shoulders, hips, knees, ankles, feet, spine, neck; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities;" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201723" "01667" "00263366" "03384" "Familial, autosomal recessive" "27y" "difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, wrists, elbows, hips, knees, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities;" "6y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201724" "01667" "00263367" "03384" "Familial, autosomal recessive" "45y" "difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, wrists, elbows, hips, knees, ankles, feet, spine; no facial dysmorphism; no intellectual disability; Severe involvement compared to proband; platyspondyly; kyphosis; scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities;" "7y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201725" "01667" "00263368" "03384" "Familial, autosomal recessive" "8y" "no difficulty walking; no muscle weakness; joint pain; joint swelling; no joint contractures; no genu valgum; affected joints hands, wrists, knees, spine; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities;" "4y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201726" "01667" "00263369" "03384" "Familial, autosomal recessive" "16y" "height 138 (SD-4-5); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; Unable to squat; affected joints hands, elbows, hips, knees; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities;" "16y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201727" "01667" "00263370" "03384" "Familial, autosomal recessive" "12y" "height 136 (SD-0-2); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; Unable to squat; affected joints hands, elbows, hips, knees, feet; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities;" "12y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201728" "01667" "00263371" "03384" "Familial, autosomal recessive" "9y" "height 116 (SD-3-4); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; Difficulty in squatting; affected joints hands, elbows, hips, knees, feet; no facial dysmorphism; no intellectual disability; Difficulty in writing, exaggerated lumbar lordosis; platyspondyly; no kyphosis; scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities;" "3y6m" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201729" "01667" "00263372" "03384" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201730" "01667" "00263373" "03384" "Familial, autosomal recessive" "8y" "difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, knees; no facial dysmorphism; no intellectual disability;" "6y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201731" "01667" "00263374" "03384" "Familial, autosomal recessive" "10y" "height 127 (SD-2); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; Neck movements restricted; affected joints hands, wrists, elbows, hips, knees, neck; no facial dysmorphism; no intellectual disability;" "7y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201732" "01667" "00263375" "03384" "Familial, autosomal recessive" "7y" "height 101 (SD-4); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, wrists, hips, knees, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Coxa vara" "5y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201733" "01667" "00263376" "03384" "Familial, autosomal recessive" "16y" "height 130 (SD-5-6); difficulty walking; muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; Myopia; affected joints hands, wrists, elbows, hips, knees, ankles, feet, spine, neck; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Fused ankles and knees" "5y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201734" "01667" "00263377" "03384" "Familial, autosomal recessive" "11y" "height 140 (SD-0-1); difficulty walking; muscle weakness ; joint contractures; genu valgum; Stiffness of limbs; affected joints, wrists, shoulders, knees, neck; facial dysmorphism; no intellectual disability; ; scoliosis; no enlarged femoral epiphyses; no coxa vara; loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities;" "3y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201735" "01667" "00263378" "03384" "Familial, autosomal recessive" "9y" "difficulty walking; muscle weakness; joint contractures; Stiffness of limbs; affected joints,wrists, shoulders, knees, neck; facial dysmorphism; no intellectual disability; scoliosis; no enlarged femoral epiphyses; no coxa vara; loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities;" "2y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201736" "01667" "00263379" "03384" "Familial, autosomal recessive" "12y" "affected joints,wrists, elbows, knees; no facial dysmorphism; no intellectual disability; epiphyseal irregularities;" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201737" "01667" "00263380" "03384" "Familial, autosomal recessive" "13y" "height 112 (SD-5-6); no muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, hips, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; no scoliosis; no enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities;" "4y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201738" "01667" "00263381" "03384" "Familial, autosomal recessive" "11y" "height 104 (SD-5-6); no muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, hips, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; no scoliosis; no enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities;" "4y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201739" "01667" "00263382" "03384" "Familial, autosomal recessive" "14y" "difficulty walking; joint swelling; affected joints,elbows, knees;" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201740" "01667" "00263383" "03384" "Familial, autosomal recessive" "7y" "height 112 (SD-0-2); difficulty walking; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, knees, spine; no facial dysmorphism; platyspondyly;" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201741" "01667" "00263384" "03384" "Familial, autosomal recessive" "12y" "height 109 (SD-5-6); no difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; genu valgum; Mid face hypoplasia; affected joints hands, wrists, elbows, hips, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; no scoliosis; no enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities;" "4y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201742" "01667" "00263385" "03384" "Familial, autosomal recessive" "9y" "height 110 (SD-4); no difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; Mid face hypoplasia; affected joints hands, wrists, elbows, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; no scoliosis; no enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities;" "4y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201743" "01667" "00263386" "03384" "Familial, autosomal recessive" "15y" "height 145 (SD-2-3); no difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, elbows, hips, knees, feet; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; scoliosis; enlarged femoral epiphyses; no coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Corner fracture" "6y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201744" "01667" "00263387" "03384" "Familial, autosomal recessive" "23y" "no difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; affected joints ; platyspondyly; no kyphosis; no coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities;" "" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201745" "01667" "00263388" "03384" "Familial, autosomal recessive" "16y" "height 135 (SD-5); difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, hips, knees, spine; no facial dysmorphism; no intellectual disability; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Physeal seperation at neck of femur, odontoid hypoplasia" "4y6m" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201746" "01667" "00263389" "03384" "Familial, autosomal recessive" "6y" "height 110 (SD-1-2); difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, hips; no facial dysmorphism; no intellectual disability; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Physeal seperation at neck of femur" "1y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201747" "01667" "00263390" "03384" "Familial, autosomal recessive" "7y" "height 116 (SD-1); no difficulty walking; muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, elbows, shoulders, hips, knees, neck; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities;" "4y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201748" "01667" "00263391" "03384" "Familial, autosomal recessive" "5y" "height 101 (SD-2); no difficulty walking; no muscle weakness; no joint pain; no joint swelling; affected joints hands; no facial dysmorphism; no intellectual disability;" "5y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201749" "01667" "00263392" "03384" "Familial, autosomal recessive" "7y" "difficulty walking; muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, shoulders, hips, knees, ankles, spine; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; loss of joint space (in affected joints); epiphyseal irregularities; no metaphyseal irregularities;" "3y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201750" "01667" "00263393" "03384" "Familial, autosomal recessive" "10y" "height 110 (SD-5); no difficulty walking; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands; no intellectual disability; platyspondyly; scoliosis; periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities;" "3y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201751" "01667" "00263394" "03384" "Familial, autosomal recessive" "5y" "difficulty walking; muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, shoulders, hips, knees, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; no enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); no periarticular osteoporosis; no epiphyseal irregularities; no metaphyseal irregularities;" "4y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000201752" "01667" "00263395" "03384" "Familial, autosomal recessive" "47y" "height 140.5 (SD-4); no difficulty walking; no muscle weakness; joint pain; joint contractures; genu valgum; affected joints hands, wrists, elbows, shoulders, hips, knees, ankles, feet, spine, neck; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; scoliosis; no enlarged femoral epiphyses; no coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; Bilateral hip replacement" "12y" "" "" "" "" "" "" "" "PPAC" "progressive pseudorheumatoid dysplasia" "" "0000249786" "05517" "00331594" "00000" "Familial, autosomal recessive" "" "Joint stiffness, Osteopenia, Aseptic necrosis" "" "" "" "" "" "" "" "" "Genetic inflammatory/rheumatoid-like osteoarthropathies" "skeletal dysplasia" "" "0000249787" "05517" "00331595" "00000" "Familial, autosomal recessive" "" "Gait disturbance, Limited neck range of motion, Lower limb asymmetry, Limited interphal No" "" "" "" "" "" "" "" "" "Genetic inflammatory/rheumatoid-like osteoarthropathies" "skeletal dysplasia" "" "0000294252" "01667" "00401209" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294253" "01667" "00401210" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294254" "01667" "00401211" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294255" "01667" "00401212" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294256" "01667" "00401213" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294257" "01667" "00401214" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294258" "01667" "00401215" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294259" "01667" "00401216" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294260" "01667" "00401217" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294261" "01667" "00401218" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294262" "01667" "00401219" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294263" "01667" "00401220" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294264" "01667" "00401221" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294265" "01667" "00401222" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294266" "01667" "00401223" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294267" "01667" "00401224" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294268" "01667" "00401225" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294269" "01667" "00401226" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294270" "01667" "00401227" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294271" "01667" "00401228" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294272" "01667" "00401229" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294273" "01667" "00401230" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294274" "01667" "00401231" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294275" "01667" "00401256" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294276" "01667" "00401257" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294277" "01667" "00401258" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294278" "01667" "00401259" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294279" "01667" "00401260" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294280" "01667" "00401261" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294281" "01667" "00401262" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294282" "01667" "00401263" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000294283" "01667" "00401264" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PPRD" "progressive pseudorheumatoid dysplasia" "" "0000310795" "00198" "00419514" "02300" "Familial, autosomal recessive" "12y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" ## Screenings ## Do not remove or alter this header ## ## Count = 160 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000250537" "00249429" "1" "00006" "00006" "2019-07-31 15:49:53" "" "" "SEQ" "DNA" "" "" "0000250538" "00249430" "1" "00006" "00006" "2019-07-31 15:49:53" "" "" "SEQ" "DNA" "" "" "0000250539" "00249431" "1" "00006" "00006" "2019-07-31 15:49:53" "" "" "SEQ" "DNA" "" "" "0000250540" "00249432" "1" "00006" "00006" "2019-07-31 15:49:53" "" "" "SEQ" "DNA" "" "" "0000250541" "00249433" "1" "00006" "00006" "2019-07-31 15:49:53" "" "" "SEQ" "DNA" "" "" "0000250542" "00249434" "1" "00006" "00006" "2019-07-31 15:49:53" "" "" "SEQ" "DNA" "" "" "0000250543" "00249435" "1" "00006" "00006" "2019-07-31 15:49:53" "" "" "SEQ" "DNA" "" "" "0000250544" "00249436" "1" "00006" "00006" "2019-07-31 15:49:53" "" "" "SEQ" "DNA" "" "" "0000250545" "00249437" "1" "00006" "00006" "2019-07-31 15:49:53" "" "" "SEQ" "DNA" "" "" "0000250546" "00249438" "1" "00006" "00006" "2019-07-31 15:53:57" "" "" "SEQ" "DNA" "" "" "0000264193" "00263087" "1" "03384" "00006" "2019-08-21 12:57:50" "00006" "2019-08-21 13:07:56" "SEQ" "DNA" "" "" "0000264194" "00263088" "1" "03384" "00006" "2019-08-21 12:57:50" "00006" "2019-08-21 13:06:08" "SEQ" "DNA" "" "" "0000264418" "00263308" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264419" "00263309" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264420" "00263310" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264421" "00263311" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264422" "00263312" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264423" "00263313" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264424" "00263314" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264425" "00263315" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264426" "00263316" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264427" "00263317" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264428" "00263318" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264429" "00263319" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264430" "00263320" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264431" "00263321" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264432" "00263322" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264433" "00263323" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264434" "00263324" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264435" "00263325" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264436" "00263326" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264437" "00263327" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264438" "00263328" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264439" "00263329" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264440" "00263330" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264441" "00263331" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264442" "00263332" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264443" "00263333" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264444" "00263334" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264445" "00263335" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264446" "00263336" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264447" "00263337" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264448" "00263338" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264449" "00263339" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264450" "00263340" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264451" "00263341" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264452" "00263342" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264453" "00263343" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264454" "00263344" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264455" "00263345" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264456" "00263346" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264457" "00263347" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264458" "00263348" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264459" "00263349" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264460" "00263350" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264461" "00263351" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264462" "00263352" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264463" "00263353" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264464" "00263354" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264465" "00263355" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264466" "00263356" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264467" "00263357" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264468" "00263358" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264469" "00263359" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264470" "00263360" "1" "03384" "00006" "2019-08-25 13:32:38" "" "" "SEQ" "DNA" "" "" "0000264471" "00263361" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264472" "00263362" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264473" "00263363" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264474" "00263364" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264475" "00263365" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264476" "00263366" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264477" "00263367" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264478" "00263368" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264479" "00263369" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264480" "00263370" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264481" "00263371" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264482" "00263372" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264483" "00263373" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264484" "00263374" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264485" "00263375" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264486" "00263376" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264487" "00263377" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264488" "00263378" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264489" "00263379" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264490" "00263380" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264491" "00263381" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264492" "00263382" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264493" "00263383" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264494" "00263384" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264495" "00263385" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264496" "00263386" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264497" "00263387" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264498" "00263388" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264499" "00263389" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264500" "00263390" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264501" "00263391" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264502" "00263392" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264503" "00263393" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264504" "00263394" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000264505" "00263395" "1" "03384" "00006" "2019-08-25 14:16:10" "" "" "SEQ" "DNA" "" "" "0000296631" "00295463" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332813" "00331594" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332814" "00331595" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000402453" "00401209" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402454" "00401210" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402455" "00401211" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402456" "00401212" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402457" "00401213" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402458" "00401214" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402459" "00401215" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402460" "00401216" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402461" "00401217" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402462" "00401218" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402463" "00401219" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402464" "00401220" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402465" "00401221" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402466" "00401222" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402467" "00401223" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402468" "00401224" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402469" "00401225" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402470" "00401226" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402471" "00401227" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402472" "00401228" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402473" "00401229" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402474" "00401230" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402475" "00401231" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402476" "00401232" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402477" "00401233" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402478" "00401234" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402479" "00401235" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000402480" "00401236" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402481" "00401237" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402482" "00401238" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402483" "00401239" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402484" "00401240" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402485" "00401241" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402486" "00401242" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402487" "00401243" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402488" "00401244" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402489" "00401245" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402490" "00401246" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402491" "00401247" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402492" "00401248" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402493" "00401249" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402494" "00401250" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402495" "00401251" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402496" "00401252" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402497" "00401253" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "SEQ" "DNA" "" "" "0000402498" "00401254" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000402499" "00401255" "1" "00006" "00006" "2022-01-30 12:35:50" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000402500" "00401256" "1" "00006" "00006" "2022-01-30 13:25:12" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000402501" "00401257" "1" "00006" "00006" "2022-01-30 13:25:12" "" "" "SEQ" "DNA" "" "" "0000402502" "00401258" "1" "00006" "00006" "2022-01-30 13:25:12" "" "" "SEQ" "DNA" "" "" "0000402503" "00401259" "1" "00006" "00006" "2022-01-30 13:25:12" "" "" "SEQ" "DNA" "" "" "0000402504" "00401260" "1" "00006" "00006" "2022-01-30 13:25:12" "" "" "SEQ" "DNA" "" "" "0000402505" "00401261" "1" "00006" "00006" "2022-01-30 13:25:12" "" "" "SEQ" "DNA" "" "" "0000402506" "00401262" "1" "00006" "00006" "2022-01-30 13:25:12" "" "" "SEQ" "DNA" "" "" "0000402507" "00401263" "1" "00006" "00006" "2022-01-30 13:25:12" "" "" "SEQ" "DNA" "" "" "0000402508" "00401264" "1" "00006" "00006" "2022-01-30 13:25:12" "" "" "SEQ" "DNA" "" "" "0000420818" "00419514" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 158 "{{screeningid}}" "{{geneid}}" "0000250537" "WISP3" "0000250538" "WISP3" "0000250539" "WISP3" "0000250540" "WISP3" "0000250541" "WISP3" "0000250542" "WISP3" "0000250543" "WISP3" "0000250544" "WISP3" "0000250545" "WISP3" "0000250546" "WISP3" "0000264193" "WISP3" "0000264194" "WISP3" "0000264418" "WISP3" "0000264419" "WISP3" "0000264420" "WISP3" "0000264421" "WISP3" "0000264422" "WISP3" "0000264423" "WISP3" "0000264424" "WISP3" "0000264425" "WISP3" "0000264426" "WISP3" "0000264427" "WISP3" "0000264428" "WISP3" "0000264429" "WISP3" "0000264430" "WISP3" "0000264431" "WISP3" "0000264432" "WISP3" "0000264433" "WISP3" "0000264434" "WISP3" "0000264435" "WISP3" "0000264436" "WISP3" "0000264437" "WISP3" "0000264438" "WISP3" "0000264439" "WISP3" "0000264440" "WISP3" "0000264441" "WISP3" "0000264442" "WISP3" "0000264443" "WISP3" "0000264444" "WISP3" "0000264445" "WISP3" "0000264446" "WISP3" "0000264447" "WISP3" "0000264448" "WISP3" "0000264449" "WISP3" "0000264450" "WISP3" "0000264451" "WISP3" "0000264452" "WISP3" "0000264453" "WISP3" "0000264454" "WISP3" "0000264455" "WISP3" "0000264456" "WISP3" "0000264457" "WISP3" "0000264458" "WISP3" "0000264459" "WISP3" "0000264460" "WISP3" "0000264461" "WISP3" "0000264462" "WISP3" "0000264463" "WISP3" "0000264464" "WISP3" "0000264465" "WISP3" "0000264466" "WISP3" "0000264467" "WISP3" "0000264468" "WISP3" "0000264469" "WISP3" "0000264470" "WISP3" "0000264471" "WISP3" "0000264472" "WISP3" "0000264473" "WISP3" "0000264474" "WISP3" "0000264475" "WISP3" "0000264476" "WISP3" "0000264477" "WISP3" "0000264478" "WISP3" "0000264479" "WISP3" "0000264480" "WISP3" "0000264481" "WISP3" "0000264482" "WISP3" "0000264483" "WISP3" "0000264484" "WISP3" "0000264485" "WISP3" "0000264486" "WISP3" "0000264487" "WISP3" "0000264488" "WISP3" "0000264489" "WISP3" "0000264490" "WISP3" "0000264491" "WISP3" "0000264492" "WISP3" "0000264493" "WISP3" "0000264494" "WISP3" "0000264495" "WISP3" "0000264496" "WISP3" "0000264497" "WISP3" "0000264498" "WISP3" "0000264499" "WISP3" "0000264500" "WISP3" "0000264501" "WISP3" "0000264502" "WISP3" "0000264503" "WISP3" "0000264504" "WISP3" "0000264505" "WISP3" "0000332813" "WISP3" "0000332814" "WISP3" "0000402453" "WISP3" "0000402454" "WISP3" "0000402455" "WISP3" "0000402456" "WISP3" "0000402457" "WISP3" "0000402458" "WISP3" "0000402459" "WISP3" "0000402460" "WISP3" "0000402461" "WISP3" "0000402462" "WISP3" "0000402463" "WISP3" "0000402464" "WISP3" "0000402465" "WISP3" "0000402466" "WISP3" "0000402467" "WISP3" "0000402468" "WISP3" "0000402469" "WISP3" "0000402470" "WISP3" "0000402471" "WISP3" "0000402472" "WISP3" "0000402473" "WISP3" "0000402474" "WISP3" "0000402475" "WISP3" "0000402476" "WISP3" "0000402477" "WISP3" "0000402478" "WISP3" "0000402479" "WISP3" "0000402480" "WISP3" "0000402481" "WISP3" "0000402482" "WISP3" "0000402483" "WISP3" "0000402484" "WISP3" "0000402485" "WISP3" "0000402486" "WISP3" "0000402487" "WISP3" "0000402488" "WISP3" "0000402489" "WISP3" "0000402490" "WISP3" "0000402491" "WISP3" "0000402492" "WISP3" "0000402493" "WISP3" "0000402494" "WISP3" "0000402495" "WISP3" "0000402496" "WISP3" "0000402497" "WISP3" "0000402498" "WISP3" "0000402499" "WISP3" "0000402500" "WISP3" "0000402501" "WISP3" "0000402502" "WISP3" "0000402503" "WISP3" "0000402504" "WISP3" "0000402505" "WISP3" "0000402506" "WISP3" "0000402507" "WISP3" "0000402508" "WISP3" ## 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 = 223 "{{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}}" "0000256285" "0" "50" "6" "112375561" "112375561" "subst" "0" "01943" "WISP3_000001" "g.112375561A>G" "" "" "" "WISP3(NM_003880.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112054358A>G" "" "VUS" "" "0000313089" "0" "10" "6" "112382313" "112382313" "subst" "0.254984" "02325" "WISP3_000003" "g.112382313G>T" "" "" "" "CCN6(NM_198239.2):c.168G>T (p.Q56H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112061110G>T" "" "benign" "" "0000313710" "0" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "02329" "WISP3_000002" "g.112382301C>A" "" "" "" "CCN6(NM_198239.2):c.156C>A (p.C52*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic" "" "0000579837" "1" "90" "6" "112386045" "112386045" "subst" "0" "00006" "WISP3_000004" "g.112386045G>A" "" "{PMID:Hurvitz 1999:10471507}" "" "" "" "Germline" "" "" "0" "" "" "g.112064842G>A" "" "pathogenic (recessive)" "" "0000579838" "2" "90" "6" "112390751" "112390751" "subst" "4.0663E-6" "00006" "WISP3_000005" "g.112390751G>A" "" "{PMID:Hurvitz 1999:10471507}" "" "" "" "Germline" "" "" "0" "" "" "g.112069548G>A" "" "pathogenic (recessive)" "" "0000579839" "1" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Hurvitz 1999:10471507}" "" "" "no variant 2nd allele identified" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000579840" "1" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Hurvitz 1999:10471507}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000579841" "2" "90" "6" "112382377" "112382377" "subst" "0" "00006" "WISP3_000006" "g.112382377T>C" "" "{PMID:Hurvitz 1999:10471507}" "" "" "" "Germline" "" "" "0" "" "" "g.112061174T>C" "" "pathogenic (recessive)" "" "0000579842" "3" "90" "6" "112382391" "112382391" "del" "0" "00006" "WISP3_000007" "g.112382391del" "" "{PMID:Hurvitz 1999:10471507}" "" "246delA" "" "Germline" "" "" "0" "" "" "g.112061188del" "" "pathogenic (recessive)" "" "0000579843" "3" "90" "6" "112382391" "112382391" "del" "0" "00006" "WISP3_000007" "g.112382391del" "" "{PMID:Hurvitz 1999:10471507}" "" "246delA" "" "Germline" "" "" "0" "" "" "g.112061188del" "" "pathogenic (recessive)" "" "0000579844" "3" "90" "6" "112382391" "112382391" "del" "0" "00006" "WISP3_000007" "g.112382391del" "" "{PMID:Hurvitz 1999:10471507}" "" "246delA" "" "Germline" "" "" "0" "" "" "g.112061188del" "" "pathogenic (recessive)" "" "0000579845" "3" "90" "6" "112375610" "112375610" "dup" "0" "00006" "WISP3_000008" "g.112375610dup" "" "{PMID:Hurvitz 1999:10471507}" "" "insT+2IVS1" "" "Germline" "" "" "0" "" "" "g.112054407dup" "" "pathogenic (recessive)" "" "0000579846" "1" "90" "6" "112390620" "112390621" "ins" "0" "00006" "WISP3_000009" "g.112390620_112390621insAC" "" "{PMID:Hurvitz 1999:10471507}" "" "863insAC" "" "Germline" "" "" "0" "" "" "g.112069417_112069418insAC" "" "pathogenic (recessive)" "" "0000579847" "2" "90" "6" "112375603" "112375604" "del" "8.12869E-6" "00006" "WISP3_000010" "g.112375603_112375604del" "" "{PMID:Hurvitz 1999:10471507}" "" "43delGC" "" "Germline" "" "" "0" "" "" "g.112054400_112054401del" "" "pathogenic (recessive)" "" "0000579848" "3" "90" "6" "112390626" "112390627" "del" "0" "00006" "WISP3_000011" "g.112390626_112390627del" "" "{PMID:Hurvitz 1999:10471507}" "" "866delAG" "" "Germline" "" "" "0" "" "" "g.112069423_112069424del" "" "pathogenic (recessive)" "" "0000579849" "0" "30" "6" "112382313" "112382313" "subst" "0.254984" "00006" "WISP3_000003" "g.112382313G>T" "" "{PMID:Hurvitz 1999:10471507}" "" "" "" "Germline" "" "" "0" "" "" "g.112061110G>T" "" "likely benign" "" "0000579850" "0" "30" "6" "112390565" "112390565" "subst" "0.0427932" "00006" "WISP3_000012" "g.112390565A>G" "" "{PMID:Hurvitz 1999:10471507}" "" "" "" "Germline" "" "" "0" "" "" "g.112069362A>G" "" "likely benign" "" "0000579851" "0" "30" "6" "112382313" "112382313" "subst" "0.254984" "00006" "WISP3_000003" "g.112382313G>T" "" "{PMID:Hurvitz 1999:10471507}" "" "" "" "Germline" "" "" "0" "" "" "g.112061110G>T" "" "likely benign" "" "0000593747" "1" "99" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "yes" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000593748" "3" "99" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "yes" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000593792" "2" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "03384" "WISP3_000002" "g.112382301C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "yes" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000594970" "1" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000594971" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000594972" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000594973" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "03384" "WISP3_000002" "g.112382301C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000594974" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000594975" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000594976" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000594977" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000594978" "3" "90" "6" "112389558" "112389559" "del" "0" "03384" "WISP3_000030" "g.112389558_112389559del" "" "{PMID:Bhavani 2015:25988854}" "" "739_740delTG" "" "Germline" "" "" "0" "" "" "g.112068355_112068356del" "" "pathogenic (recessive)" "" "0000594979" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "03384" "WISP3_000002" "g.112382301C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000594980" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "03384" "WISP3_000002" "g.112382301C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000594981" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000594982" "3" "90" "6" "112389442" "112389442" "dup" "0" "03384" "WISP3_000026" "g.112389442dup" "" "{PMID:Bhavani 2015:25988854}" "" "624_625insA" "" "Germline" "" "" "0" "" "" "g.112068239dup" "" "pathogenic (recessive)" "" "0000594983" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000594984" "3" "90" "6" "112385959" "112385959" "subst" "0" "03384" "WISP3_000023" "g.112385959C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112064756C>A" "" "pathogenic (recessive)" "" "0000594985" "3" "90" "6" "112389558" "112389559" "del" "0" "03384" "WISP3_000030" "g.112389558_112389559del" "" "{PMID:Bhavani 2015:25988854}" "" "739_740delTG" "" "Germline" "" "" "0" "" "" "g.112068355_112068356del" "" "pathogenic (recessive)" "" "0000594986" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000594987" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000594988" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "03384" "WISP3_000002" "g.112382301C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000594989" "1" "90" "6" "112385959" "112385959" "subst" "0" "03384" "WISP3_000023" "g.112385959C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112064756C>A" "" "pathogenic (recessive)" "" "0000594990" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "03384" "WISP3_000002" "g.112382301C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000594991" "3" "90" "6" "112390563" "112390563" "del" "0" "03384" "WISP3_000034" "g.112390563del" "" "{PMID:Bhavani 2015:25988854}" "" "804delC" "" "Germline" "" "" "0" "" "" "g.112069360del" "" "pathogenic (recessive)" "" "0000594992" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "03384" "WISP3_000002" "g.112382301C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000594993" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "03384" "WISP3_000002" "g.112382301C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000594994" "3" "90" "6" "112389558" "112389559" "del" "0" "03384" "WISP3_000030" "g.112389558_112389559del" "" "{PMID:Bhavani 2015:25988854}" "" "739_740delTG" "" "Germline" "" "" "0" "" "" "g.112068355_112068356del" "" "pathogenic (recessive)" "" "0000594995" "3" "50" "6" "112382441" "112382441" "subst" "0" "03384" "WISP3_000014" "g.112382441A>T" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061238A>T" "" "VUS" "" "0000594996" "3" "90" "6" "112382193" "112382193" "subst" "1.22691E-5" "03384" "WISP3_000017" "g.112382193G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112060990G>A" "" "likely pathogenic (recessive)" "" "0000594997" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000594998" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000594999" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000595000" "1" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "03384" "WISP3_000002" "g.112382301C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000595001" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000595002" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "03384" "WISP3_000002" "g.112382301C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000595003" "3" "90" "6" "112385959" "112385959" "subst" "0" "03384" "WISP3_000023" "g.112385959C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112064756C>A" "" "pathogenic (recessive)" "" "0000595004" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595005" "3" "90" "6" "112386141" "112386141" "subst" "0" "03384" "WISP3_000025" "g.112386141C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112064938C>A" "" "pathogenic (recessive)" "" "0000595006" "1" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "03384" "WISP3_000002" "g.112382301C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000595007" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000595008" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000595009" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595010" "3" "90" "6" "112389502" "112389502" "dup" "0" "03384" "WISP3_000029" "g.112389502dup" "" "{PMID:Bhavani 2015:25988854}" "" "683_684insT" "" "Germline" "" "" "0" "" "" "g.112068299dup" "" "pathogenic (recessive)" "" "0000595011" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595012" "3" "90" "6" "112385956" "112385956" "subst" "0" "03384" "WISP3_000022" "g.112385956A>G" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112064753A>G" "" "pathogenic (recessive)" "" "0000595013" "3" "90" "6" "112385959" "112385959" "subst" "0" "03384" "WISP3_000023" "g.112385959C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112064756C>A" "" "pathogenic (recessive)" "" "0000595014" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595015" "3" "90" "6" "112386044" "112386044" "subst" "0" "03384" "WISP3_000024" "g.112386044T>C" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112064841T>C" "" "pathogenic (recessive)" "" "0000595016" "3" "90" "6" "112385955" "112385957" "del" "0" "03384" "WISP3_000021" "g.112385955_112385957del" "" "{PMID:Bhavani 2015:25988854}" "" "347-1_347-3delCAG" "" "Germline" "" "" "0" "" "" "g.112064752_112064754del" "" "pathogenic (recessive)" "" "0000595017" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000595018" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000595019" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "03384" "WISP3_000002" "g.112382301C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000595020" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595021" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000595022" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000595023" "3" "70" "6" "112382443" "112382443" "subst" "0" "03384" "WISP3_000015" "g.112382443T>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061240T>A" "" "likely pathogenic (recessive)" "" "0000595024" "2" "90" "6" "112389442" "112389442" "dup" "0" "03384" "WISP3_000026" "g.112389442dup" "" "{PMID:Bhavani 2015:25988854}" "" "624_625insA" "" "Germline" "" "" "0" "" "" "g.112068239dup" "" "pathogenic (recessive)" "" "0000595025" "2" "90" "6" "112389495" "112389495" "subst" "0" "03384" "WISP3_000027" "g.112389495G>T" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112068292G>T" "" "pathogenic (recessive)" "" "0000595026" "2" "90" "6" "112389558" "112389559" "del" "0" "03384" "WISP3_000031" "g.112389558_112389559del" "" "{PMID:Bhavani 2015:25988854}" "" "740_741delGT" "" "Germline" "" "" "0" "" "" "g.112068355_112068356del" "" "pathogenic (recessive)" "" "0000595027" "2" "90" "6" "112389602" "112389607" "del" "0" "03384" "WISP3_000032" "g.112389602_112389607del" "" "{PMID:Bhavani 2015:25988854}" "" "779_783+1delTAAAGG" "" "Germline" "" "" "0" "" "" "g.112068399_112068404del" "" "pathogenic (recessive)" "" "0000595028" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000595029" "3" "90" "6" "112389500" "112389500" "subst" "0" "03384" "WISP3_000028" "g.112389500T>C" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112068297T>C" "" "pathogenic (recessive)" "" "0000595030" "3" "90" "6" "112382393" "112382393" "subst" "0.0024675" "03384" "WISP3_000019" "g.112382393G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "pathogenic (recessive)" "" "0000595031" "3" "90" "6" "112382393" "112382393" "subst" "0.0024675" "03384" "WISP3_000019" "g.112382393G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "pathogenic (recessive)" "" "0000595032" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595033" "3" "90" "6" "112386044" "112386044" "subst" "0" "03384" "WISP3_000024" "g.112386044T>C" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112064841T>C" "" "pathogenic (recessive)" "" "0000595034" "3" "90" "6" "112386044" "112386044" "subst" "0" "03384" "WISP3_000024" "g.112386044T>C" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112064841T>C" "" "pathogenic (recessive)" "" "0000595035" "3" "90" "6" "112386044" "112386044" "subst" "0" "03384" "WISP3_000024" "g.112386044T>C" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112064841T>C" "" "pathogenic (recessive)" "" "0000595036" "3" "90" "6" "112390560" "112390560" "subst" "0" "03384" "WISP3_000033" "g.112390560T>G" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112069357T>G" "" "pathogenic (recessive)" "" "0000595037" "3" "90" "6" "112390560" "112390560" "subst" "0" "03384" "WISP3_000033" "g.112390560T>G" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112069357T>G" "" "pathogenic (recessive)" "" "0000595038" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595039" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595040" "3" "90" "6" "112389558" "112389559" "del" "0" "03384" "WISP3_000030" "g.112389558_112389559del" "" "{PMID:Dalal 2012:22987568}" "" "739_740delTG" "" "Germline" "" "" "0" "" "" "g.112068355_112068356del" "" "pathogenic (recessive)" "" "0000595041" "3" "90" "6" "112389558" "112389559" "del" "0" "03384" "WISP3_000030" "g.112389558_112389559del" "" "{PMID:Dalal 2012:22987568}" "" "739_740delTG" "" "Germline" "" "" "0" "" "" "g.112068355_112068356del" "" "pathogenic (recessive)" "" "0000595042" "3" "90" "6" "112390705" "112390709" "del" "0" "03384" "WISP3_000035" "g.112390705_112390709del" "" "{PMID:Dalal 2012:22987568}" "" "947_951delAATT" "" "Germline" "" "" "0" "" "" "g.112069502_112069506del" "" "pathogenic (recessive)" "" "0000595043" "3" "90" "6" "112390705" "112390709" "del" "0" "03384" "WISP3_000035" "g.112390705_112390709del" "" "{PMID:Dalal 2012:22987568}" "" "947_951delAATT" "" "Germline" "" "" "0" "" "" "g.112069502_112069506del" "" "pathogenic (recessive)" "" "0000595044" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595045" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595046" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595047" "3" "90" "6" "112382485" "112382485" "subst" "0" "03384" "WISP3_000020" "g.112382485T>C" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112061282T>C" "" "pathogenic (recessive)" "" "0000595048" "3" "90" "6" "112382485" "112382485" "subst" "0" "03384" "WISP3_000020" "g.112382485T>C" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112061282T>C" "" "pathogenic (recessive)" "" "0000595049" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "03384" "WISP3_000002" "g.112382301C>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000595050" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000595051" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595052" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595053" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000595054" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000595055" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595056" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595057" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595058" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595059" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "03384" "WISP3_000002" "g.112382301C>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000595060" "3" "90" "6" "112382378" "112382378" "subst" "0" "03384" "WISP3_000018" "g.112382378G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112061175G>A" "" "pathogenic (recessive)" "" "0000595061" "3" "90" "6" "112385959" "112385959" "subst" "0" "03384" "WISP3_000023" "g.112385959C>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112064756C>A" "" "pathogenic (recessive)" "" "0000595062" "1" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "03384" "WISP3_000013" "g.112390768G>A" "" "{PMID:Dalal 2012:22987568}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000595063" "2" "90" "6" "112389500" "112389504" "dup" "0" "03384" "WISP3_000016" "g.112389500_112389504dup" "" "{PMID:Dalal 2012:22987568}, {PMID:Bhavani 2015:25988854}" "" "c.685_686insATCTA" "variant c.248G>A (Gly83Glu) corrected in 2015publication\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.112061190G>A" "" "pathogenic (recessive)" "" "0000595075" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000595076" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Bhavani 2015:25988854}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000653320" "1" "70" "6" "112389556" "112389559" "del" "0" "03575" "WISP3_000036" "g.112389556_112389559del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs727503755}" "Germline" "" "rs727503755" "0" "" "" "g.112068353_112068356del" "" "likely pathogenic" "" "0000677590" "0" "90" "6" "112389440" "112389440" "subst" "2.05115E-5" "01943" "TUBE1_000001" "g.112389440A>T" "" "" "" "CCN6(NM_198239.1):c.676A>T (p.K226*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000730095" "3" "90" "6" "112389558" "112389559" "del" "0" "00000" "WISP3_000030" "g.112389558_112389559del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_003880.3:c.740_741del:p.(Cys247Leufs*31)" "" "Germline" "" "" "0" "" "" "g.112068355_112068356del" "" "pathogenic (recessive)" "" "0000730096" "3" "90" "6" "112382391" "112382391" "del" "0" "00000" "WISP3_000007" "g.112382391del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_003880.3:c.246delA:p.(Glu84Lysfs*21)" "" "Germline" "" "" "0" "" "" "g.112061188del" "" "pathogenic (recessive)" "" "0000802268" "0" "30" "6" "112382393" "112382393" "subst" "0.0024675" "01804" "WISP3_000019" "g.112382393G>A" "" "" "" "WISP3(NM_003880.3):c.248G>A (p.(Gly83Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000836629" "2" "90" "6" "112382381" "112382382" "delins" "0" "00006" "WISP3_000037" "g.112382381_112382382delinsAA" "" "{PMID:Garcia Segarra 2012:22791401}" "" "236-237CC >AA" "" "Germline" "" "" "0" "" "" "g.112061178_112061179delinsAA" "" "pathogenic (recessive)" "" "0000836630" "3" "90" "6" "112375610" "112375610" "dup" "0" "00006" "WISP3_000008" "g.112375610dup" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.48+2dupT" "" "Germline" "" "" "0" "" "" "g.112054407dup" "" "pathogenic (recessive)" "" "0000836631" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836632" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836633" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836634" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836635" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836636" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836637" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836638" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836639" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836640" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836641" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836642" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836643" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836644" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836645" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836646" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836647" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836648" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836649" "3" "90" "6" "112382327" "112382327" "subst" "0" "00006" "WISP3_000039" "g.112382327G>T" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061124G>T" "" "pathogenic (recessive)" "" "0000836650" "3" "90" "6" "112382330" "112382330" "del" "0" "00006" "WISP3_000040" "g.112382330del" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.185delC" "" "Germline" "" "" "0" "" "" "g.112061127del" "" "pathogenic (recessive)" "" "0000836651" "3" "90" "6" "112382330" "112382330" "del" "0" "00006" "WISP3_000040" "g.112382330del" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.185delC" "" "Germline" "" "" "0" "" "" "g.112061127del" "" "pathogenic (recessive)" "" "0000836652" "3" "90" "6" "112382472" "112382472" "subst" "0" "00006" "WISP3_000042" "g.112382472C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061269C>A" "" "pathogenic (recessive)" "" "0000836653" "3" "90" "6" "112382472" "112382472" "subst" "0" "00006" "WISP3_000042" "g.112382472C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061269C>A" "" "pathogenic (recessive)" "" "0000836654" "3" "90" "6" "112382472" "112382472" "subst" "0" "00006" "WISP3_000042" "g.112382472C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061269C>A" "" "pathogenic (recessive)" "" "0000836655" "3" "90" "6" "112382487" "112382488" "del" "0" "00006" "WISP3_000043" "g.112382487_112382488del" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.342_343delTG" "" "Germline" "" "" "0" "" "" "g.112061284_112061285del" "" "pathogenic (recessive)" "" "0000836656" "3" "90" "6" "112382492" "112382492" "subst" "0" "00006" "WISP3_000044" "g.112382492G>T" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061289G>T" "" "pathogenic (recessive)" "" "0000836657" "3" "90" "6" "112389526" "112389526" "dup" "0" "00006" "WISP3_000051" "g.112389526dup" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.708dupC" "" "Germline" "" "" "0" "" "" "g.112068323dup" "" "pathogenic (recessive)" "" "0000836658" "3" "90" "6" "112389526" "112389526" "dup" "0" "00006" "WISP3_000051" "g.112389526dup" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.708dupC" "" "Germline" "" "" "0" "" "" "g.112068323dup" "" "pathogenic (recessive)" "" "0000836659" "3" "90" "6" "112389545" "112389549" "del" "0" "00006" "WISP3_000053" "g.112389545_112389549del" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.727_731delGAGAA" "" "Germline" "" "" "0" "" "" "g.112068342_112068346del" "" "pathogenic (recessive)" "" "0000836660" "3" "90" "6" "112389545" "112389549" "del" "0" "00006" "WISP3_000053" "g.112389545_112389549del" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.727_731delGAGAA" "" "Germline" "" "" "0" "" "" "g.112068342_112068346del" "" "pathogenic (recessive)" "" "0000836661" "3" "90" "6" "112389545" "112389549" "del" "0" "00006" "WISP3_000053" "g.112389545_112389549del" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.727_731delGAGAA" "" "Germline" "" "" "0" "" "" "g.112068342_112068346del" "" "pathogenic (recessive)" "" "0000836662" "3" "90" "6" "112389558" "112389559" "del" "0" "00006" "WISP3_000030" "g.112389558_112389559del" "" "{PMID:Ehl 2004:12819927}, {PMID:Garcia Segarra 2012:22791401}" "" "c.739_740delTG" "" "Germline" "" "" "0" "" "" "g.112068355_112068356del" "" "pathogenic (recessive)" "" "0000836663" "3" "90" "6" "112390608" "112390608" "subst" "0" "00006" "WISP3_000054" "g.112390608G>T" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112069405G>T" "" "pathogenic (recessive)" "" "0000836664" "3" "90" "6" "112390615" "112390615" "subst" "0" "00006" "WISP3_000055" "g.112390615C>G" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112069412C>G" "" "pathogenic (recessive)" "" "0000836665" "3" "90" "6" "112390768" "112390768" "subst" "4.06739E-6" "00006" "WISP3_000013" "g.112390768G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112069565G>A" "" "pathogenic (recessive)" "" "0000836666" "1" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836667" "1" "90" "6" "112382327" "112382327" "subst" "0" "00006" "WISP3_000039" "g.112382327G>T" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061124G>T" "" "pathogenic (recessive)" "" "0000836668" "1" "90" "6" "112382342" "112382342" "subst" "0" "00006" "WISP3_000041" "g.112382342G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061139G>A" "" "pathogenic (recessive)" "" "0000836669" "1" "90" "6" "112382342" "112382342" "subst" "0" "00006" "WISP3_000041" "g.112382342G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061139G>A" "" "pathogenic (recessive)" "" "0000836670" "1" "90" "6" "112386200" "112386200" "subst" "4.07113E-6" "00006" "WISP3_000046" "g.112386200G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112064997G>A" "" "pathogenic (recessive)" "" "0000836671" "1" "90" "6" "112389439" "112389440" "delins" "0" "00006" "WISP3_000049" "g.112389439_112389440delinsT" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.621_622delAAinsT" "" "Germline" "" "" "0" "" "" "g.112068236_112068237delinsT" "" "pathogenic (recessive)" "" "0000836672" "1" "90" "6" "112389495" "112389495" "subst" "0" "00006" "WISP3_000027" "g.112389495G>T" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112068292G>T" "" "pathogenic (recessive)" "" "0000836673" "1" "90" "6" "112390624" "112390624" "dup" "4.06762E-6" "00006" "WISP3_000057" "g.112390624dup" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.866dupA" "" "Germline" "" "" "0" "" "" "g.112069421dup" "" "pathogenic (recessive)" "" "0000836674" "1" "90" "6" "112390626" "112390627" "del" "0" "00006" "WISP3_000011" "g.112390626_112390627del" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.868_869delAG" "" "Germline" "" "" "0" "" "" "g.112069423_112069424del" "" "pathogenic (recessive)" "" "0000836675" "1" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836676" "1" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836677" "2" "90" "6" "112389488" "112389488" "subst" "0" "00006" "WISP3_000050" "g.112389488G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112068285G>A" "" "pathogenic (recessive)" "" "0000836678" "2" "90" "6" "112389442" "112389442" "dup" "0" "00006" "WISP3_000026" "g.112389442dup" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.624dupA" "" "Germline" "" "" "0" "" "" "g.112068239dup" "" "pathogenic (recessive)" "" "0000836679" "2" "90" "6" "112389439" "112389440" "delins" "0" "00006" "WISP3_000049" "g.112389439_112389440delinsT" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.621_622delAAinsT" "" "Germline" "" "" "0" "" "" "g.112068236_112068237delinsT" "" "pathogenic (recessive)" "" "0000836680" "2" "90" "6" "112389543" "112389544" "del" "0" "00006" "WISP3_000052" "g.112389543_112389544del" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.725_726delAA" "" "Germline" "" "" "0" "" "" "g.112068340_112068341del" "" "pathogenic (recessive)" "" "0000836681" "2" "90" "6" "112389543" "112389544" "del" "0" "00006" "WISP3_000052" "g.112389543_112389544del" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.725_726delAA" "" "Germline" "" "" "0" "" "" "g.112068340_112068341del" "" "pathogenic (recessive)" "" "0000836682" "2" "90" "6" "112389442" "112389442" "dup" "0" "00006" "WISP3_000026" "g.112389442dup" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.624dupA" "" "Germline" "" "" "0" "" "" "g.112068239dup" "" "pathogenic (recessive)" "" "0000836683" "2" "90" "6" "112390620" "112390621" "dup" "0" "00006" "WISP3_000056" "g.112390620_112390621dup" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.862_863dupAC" "" "Germline" "" "" "0" "" "" "g.112069417_112069418dup" "" "pathogenic (recessive)" "" "0000836684" "2" "90" "6" "112390626" "112390627" "del" "0" "00006" "WISP3_000011" "g.112390626_112390627del" "" "{PMID:Garcia Segarra 2012:22791401}" "" "c.868-869delAG" "" "Germline" "" "" "0" "" "" "g.112069423_112069424del" "" "pathogenic (recessive)" "" "0000836685" "2" "90" "6" "112390762" "112390762" "subst" "0" "00006" "WISP3_000058" "g.112390762G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112069559G>A" "" "pathogenic (recessive)" "" "0000836686" "2" "90" "6" "112381431" "112381431" "subst" "0" "00006" "WISP3_000038" "g.112381431G>T" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "variant generates branch point, activating a pseudo exon" "Germline" "" "" "0" "" "" "g.112060228G>T" "" "pathogenic (recessive)" "" "0000836687" "2" "90" "6" "112386227" "112386227" "subst" "0" "00006" "WISP3_000048" "g.112386227C>G" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112065024C>G" "" "pathogenic (recessive)" "" "0000836688" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836689" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836690" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836691" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836692" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836693" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836694" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836695" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836696" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836697" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836698" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836699" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836700" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836701" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836702" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836703" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836704" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836705" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836706" "1" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836707" "1" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836708" "1" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Garcia Segarra 2012:22791401}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836709" "3" "90" "6" "112386200" "112386200" "subst" "0" "00006" "WISP3_000047" "g.112386200G>C" "" "{PMID:Delague 2005:16152649}" "" "" "" "Germline" "" "" "0" "" "" "g.112064997G>C" "" "pathogenic (recessive)" "" "0000836710" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Delague 2005:16152649}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836711" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Delague 2005:16152649}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836712" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Delague 2005:16152649}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836713" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Delague 2005:16152649}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836714" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Delague 2005:16152649}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836715" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Delague 2005:16152649}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836716" "3" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "00006" "WISP3_000002" "g.112382301C>A" "" "{PMID:Delague 2005:16152649}" "" "" "" "Germline" "" "" "0" "" "" "g.112061098C>A" "" "pathogenic (recessive)" "" "0000836717" "3" "90" "6" "112386147" "112386148" "del" "0" "00006" "WISP3_000045" "g.112386147_112386148del" "" "{PMID:Delague 2005:16152649}" "" "c.535_536delTG" "" "Germline" "" "" "0" "" "" "g.112064944_112064945del" "" "pathogenic (recessive)" "" "0000836718" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Delague 2005:16152649}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836719" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Delague 2005:16152649}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836720" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Delague 2005:16152649}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836721" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Delague 2005:16152649}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836722" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Delague 2005:16152649}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836723" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Delague 2005:16152649}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000836724" "3" "10" "6" "112382393" "112382393" "subst" "0.0024675" "00006" "WISP3_000019" "g.112382393G>A" "" "{PMID:Delague 2005:16152649}" "" "" "" "Germline" "" "" "0" "" "" "g.112061190G>A" "" "benign" "" "0000881177" "3" "70" "6" "112386200" "112386200" "subst" "0" "02300" "WISP3_000047" "g.112386200G>C" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PM3, PP3, PP4" "Germline" "" "rs1554313639" "0" "" "" "g.112064997G>C" "" "likely pathogenic (recessive)" "ACMG" "0000924406" "0" "30" "6" "112382222" "112382222" "subst" "0.00199408" "01804" "WISP3_000059" "g.112382222C>T" "" "" "" "WISP3(NM_003880.3):c.77C>T (p.(Pro26Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924407" "0" "30" "6" "112382236" "112382236" "subst" "0.00198791" "01804" "WISP3_000060" "g.112382236C>A" "" "" "" "WISP3(NM_003880.3):c.91C>A (p.(Pro31Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924408" "0" "90" "6" "112382301" "112382301" "subst" "4.06418E-5" "02327" "WISP3_000002" "g.112382301C>A" "" "" "" "CCN6(NM_198239.2):c.156C>A (p.C52*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035413" "0" "30" "6" "112382324" "112382324" "subst" "4.4698E-5" "01804" "WISP3_000061" "g.112382324G>A" "" "" "" "CCN6(NM_198239.2):c.179G>A (p.(Arg60His))" "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 WISP3 ## Count = 235 "{{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}}" "0000256285" "00022844" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000256285" "00025690" "50" "55" "0" "55" "0" "c.55A>G" "r.(?)" "p.(Met19Val)" "" "0000313089" "00022844" "10" "168" "0" "168" "0" "c.168G>T" "r.(?)" "p.(Gln56His)" "" "0000313089" "00025690" "10" "222" "0" "222" "0" "c.222G>T" "r.(?)" "p.(Gln74His)" "" "0000313710" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000313710" "00025690" "90" "210" "0" "210" "0" "c.210C>A" "r.(?)" "p.(Cys70Ter)" "" "0000579837" "00022844" "90" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Cys145Tyr)" "" "0000579838" "00022844" "90" "993" "0" "993" "0" "c.993G>A" "r.(?)" "p.(Trp331*)" "" "0000579839" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000579840" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys145Tyr)" "" "0000579841" "00022844" "90" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Cys78Arg)" "" "0000579842" "00022844" "90" "246" "0" "246" "0" "c.246del" "r.(?)" "p.(Glu84Lysfs*21)" "" "0000579843" "00022844" "90" "246" "0" "246" "0" "c.246del" "r.(?)" "p.(Glu84Lysfs*21)" "" "0000579844" "00022844" "90" "246" "0" "246" "0" "c.246del" "r.(?)" "p.(Glu84Lysfs*21)" "" "0000579845" "00022844" "90" "48" "2" "48" "2" "c.48+2dup" "r.spl?" "p.?" "" "0000579846" "00022844" "90" "862" "0" "863" "0" "c.862_863insAC" "r.(?)" "p.(Thr288Asnfs*26)" "" "0000579847" "00022844" "90" "43" "0" "44" "0" "c.43_44del" "r.(?)" "p.(Ala15Thrfs*17)" "" "0000579848" "00022844" "90" "868" "0" "869" "0" "c.868_869del" "r.(?)" "p.(Ser290Leufs*12)" "" "0000579849" "00022844" "30" "168" "0" "168" "0" "c.168G>T" "r.(?)" "p.(Gln56His)" "" "0000579850" "00022844" "30" "807" "0" "807" "0" "c.807A>G" "r.(=)" "p.(=)" "" "0000579851" "00022844" "30" "168" "0" "168" "0" "c.168G>T" "r.(?)" "p.(Gln56His)" "" "0000593747" "00022844" "99" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "5" "0000593748" "00022844" "99" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "5" "0000593792" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "3" "0000594970" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000594971" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000594972" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000594973" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000594974" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000594975" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000594976" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000594977" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000594978" "00022844" "90" "740" "0" "741" "0" "c.740_741del" "r.(?)" "p.(Cys247Leufs*31)" "" "0000594979" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000594980" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000594981" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000594982" "00022844" "90" "624" "0" "624" "0" "c.624dup" "r.(?)" "p.(Cys209Metfs*21)" "" "0000594983" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000594984" "00022844" "90" "348" "0" "348" "0" "c.348C>A" "r.(?)" "p.(Tyr116*)" "" "0000594985" "00022844" "90" "740" "0" "741" "0" "c.740_741del" "r.(?)" "p.(Cys247Leufs*31)" "" "0000594986" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000594987" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000594988" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000594989" "00022844" "90" "348" "0" "348" "0" "c.348C>A" "r.(?)" "p.(Tyr116*)" "" "0000594990" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000594991" "00022844" "90" "805" "0" "805" "0" "c.805del" "r.(?)" "p.(Gln269Asnfs*44)" "" "0000594992" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000594993" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000594994" "00022844" "90" "740" "0" "741" "0" "c.740_741del" "r.(?)" "p.(Cys247Leufs*31)" "" "0000594995" "00022844" "50" "296" "0" "296" "0" "c.296A>T" "r.(?)" "p.(Tyr99Phe)" "" "0000594996" "00022844" "90" "49" "-1" "49" "-1" "c.49-1G>A" "r.spl" "p.?" "" "0000594997" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000594998" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000594999" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000595000" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000595001" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000595002" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000595003" "00022844" "90" "348" "0" "348" "0" "c.348C>A" "r.(?)" "p.(Tyr116*)" "" "0000595004" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595005" "00022844" "90" "530" "0" "530" "0" "c.530C>A" "r.(?)" "p.(Ser177*)" "" "0000595006" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000595007" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000595008" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000595009" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595010" "00022844" "90" "684" "0" "684" "0" "c.684dup" "r.(?)" "p.(Asn229*)" "" "0000595011" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595012" "00022844" "90" "347" "-2" "347" "-2" "c.347-2A>G" "r.spl" "p.?" "" "0000595013" "00022844" "90" "348" "0" "348" "0" "c.348C>A" "r.(?)" "p.(Tyr116*)" "" "0000595014" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595015" "00022844" "90" "433" "0" "433" "0" "c.433T>C" "r.(?)" "p.(Cys145Arg)" "" "0000595016" "00022844" "90" "347" "-3" "347" "-1" "c.347-3_347-1del" "r.spl" "p.?" "" "0000595017" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000595018" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000595019" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000595020" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595021" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000595022" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000595023" "00022844" "70" "298" "0" "298" "0" "c.298T>A" "r.(?)" "p.(Cys100Ser)" "" "0000595024" "00022844" "90" "624" "0" "624" "0" "c.624dup" "r.(?)" "p.(Cys209Metfs*21)" "" "0000595025" "00022844" "90" "677" "0" "677" "0" "c.677G>T" "r.(?)" "p.(Gly226Val)" "" "0000595026" "00022844" "90" "740" "0" "741" "0" "c.740_741del" "r.(?)" "p.(Cys247Leufs*31)" "" "0000595027" "00022844" "90" "783" "1" "783" "6" "c.783+1_783+6del" "r.spl" "p.?" "" "0000595028" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000595029" "00022844" "90" "682" "0" "682" "0" "c.682T>C" "r.(?)" "p.(Ser228Pro)" "" "0000595030" "00022844" "90" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000595031" "00022844" "90" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000595032" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595033" "00022844" "90" "433" "0" "433" "0" "c.433T>C" "r.(?)" "p.(Cys145Arg)" "" "0000595034" "00022844" "90" "433" "0" "433" "0" "c.433T>C" "r.(?)" "p.(Cys145Arg)" "" "0000595035" "00022844" "90" "433" "0" "433" "0" "c.433T>C" "r.(?)" "p.(Cys145Arg)" "" "0000595036" "00022844" "90" "802" "0" "802" "0" "c.802T>G" "r.(?)" "p.(Cys268Glyr)" "" "0000595037" "00022844" "90" "802" "0" "802" "0" "c.802T>G" "r.(?)" "p.(Cys268Glyr)" "" "0000595038" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595039" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595040" "00022844" "90" "740" "0" "741" "0" "c.740_741del" "r.(?)" "p.(Cys247Leufs*31)" "" "0000595041" "00022844" "90" "740" "0" "741" "0" "c.740_741del" "r.(?)" "p.(Cys247Leufs*31)" "" "0000595042" "00022844" "90" "947" "0" "951" "0" "c.947_951del" "r.(?)" "p.(Gln316Argfs*5)" "" "0000595043" "00022844" "90" "947" "0" "951" "0" "c.947_951del" "r.(?)" "p.(Gln316Argfs*5)" "" "0000595044" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595045" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595046" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595047" "00022844" "90" "340" "0" "340" "0" "c.340T>C" "r.(?)" "p.(Cys114Arg)" "" "0000595048" "00022844" "90" "340" "0" "340" "0" "c.340T>C" "r.(?)" "p.(Cys114Arg)" "" "0000595049" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000595050" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000595051" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595052" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595053" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000595054" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000595055" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595056" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595057" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595058" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595059" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000595060" "00022844" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000595061" "00022844" "90" "348" "0" "348" "0" "c.348C>A" "r.(?)" "p.(Tyr116*)" "" "0000595062" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000595063" "00022844" "90" "682" "0" "686" "0" "c.682_686dup" "r.(?)" "p.(Arg230Leufs*4)" "" "0000595075" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000595076" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "" "0000653320" "00022844" "70" "738" "0" "741" "0" "c.738_741del" "r.(?)" "p.(Cys247Thrfs*10)" "" "0000653320" "00025690" "70" "792" "0" "795" "0" "c.792_795del" "r.(?)" "p.(Cys265Thrfs*10)" "" "0000677590" "00022844" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Lys208Ter)" "" "0000677590" "00025690" "90" "676" "0" "676" "0" "c.676A>T" "r.(?)" "p.(Lys226Ter)" "" "0000730095" "00022844" "90" "740" "0" "741" "0" "c.740_741del" "r.(?)" "p.(Cys247Leufs*31)" "" "0000730095" "00025690" "90" "794" "0" "795" "0" "c.794_795del" "r.(?)" "p.(Cys265Leufs*31)" "" "0000730096" "00022844" "90" "246" "0" "246" "0" "c.246del" "r.(?)" "p.(Glu84Lysfs*21)" "" "0000730096" "00025690" "90" "300" "0" "300" "0" "c.300del" "r.(?)" "p.(Glu102Lysfs*21)" "" "0000802268" "00022844" "30" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000802268" "00025690" "30" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Gly101Glu)" "" "0000836629" "00022844" "90" "236" "0" "237" "0" "c.236_237delinsAA" "r.(?)" "p.(Ala79Glu)" "" "0000836630" "00022844" "90" "48" "2" "48" "2" "c.48+2dup" "r.spl" "p.?" "" "0000836631" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836632" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836633" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836634" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836635" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836636" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836637" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836638" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836639" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836640" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836641" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836642" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836643" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836644" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836645" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836646" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836647" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836648" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836649" "00022844" "90" "182" "0" "182" "0" "c.182G>T" "r.(?)" "p.(Cys61Phe)" "" "0000836650" "00022844" "90" "185" "0" "185" "0" "c.185del" "r.(?)" "p.(Pro62LeufsTer4)" "" "0000836651" "00022844" "90" "185" "0" "185" "0" "c.185del" "r.(?)" "p.(Pro62LeufsTer4)" "" "0000836652" "00022844" "90" "327" "0" "327" "0" "c.327C>A" "r.(?)" "p.(Tyr109Ter)" "" "0000836653" "00022844" "90" "327" "0" "327" "0" "c.327C>A" "r.(?)" "p.(Tyr109Ter)" "" "0000836654" "00022844" "90" "327" "0" "327" "0" "c.327C>A" "r.(?)" "p.(Tyr109Ter)" "" "0000836655" "00022844" "90" "342" "0" "343" "0" "c.342_343del" "r.(?)" "p.(Ala115IlefsTer16)" "" "0000836656" "00022844" "90" "346" "1" "346" "1" "c.346+1G>T" "r.[324_346del;379_589del]" "p.Tyr109_Met195delins9" "" "0000836657" "00022844" "90" "708" "0" "708" "0" "c.708dup" "r.(?)" "p.(Asn237GlnfsTer3)" "" "0000836658" "00022844" "90" "708" "0" "708" "0" "c.708dup" "r.(?)" "p.(Asn237GlnfsTer3)" "" "0000836659" "00022844" "90" "727" "0" "731" "0" "c.727_731del" "r.(?)" "p.(Glu243LysfsTer34)" "" "0000836660" "00022844" "90" "727" "0" "731" "0" "c.727_731del" "r.(?)" "p.(Glu243LysfsTer34)" "" "0000836661" "00022844" "90" "727" "0" "731" "0" "c.727_731del" "r.(?)" "p.(Glu243LysfsTer34)" "" "0000836662" "00022844" "90" "740" "0" "741" "0" "c.740_741del" "r.(?)" "p.(Cys247LeufsTer31)" "" "0000836663" "00022844" "90" "850" "0" "850" "0" "c.850G>T" "r.(?)" "p.(Gly284Ter)" "" "0000836664" "00022844" "90" "857" "0" "857" "0" "c.857C>G" "r.(?)" "p.(Ser286Ter)" "" "0000836665" "00022844" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" "" "0000836666" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836667" "00022844" "90" "182" "0" "182" "0" "c.182G>T" "r.(?)" "p.(Cys61Phe)" "" "0000836668" "00022844" "90" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Ser66Asn)" "" "0000836669" "00022844" "90" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Ser66Asn)" "" "0000836670" "00022844" "90" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Ala197Thr)" "" "0000836671" "00022844" "90" "621" "0" "622" "0" "c.621_622delinsT" "r.(?)" "p.(Lys207AsnfsTer25)" "" "0000836672" "00022844" "90" "677" "0" "677" "0" "c.677G>T" "r.(?)" "p.(Gly226Val)" "" "0000836673" "00022844" "90" "866" "0" "866" "0" "c.866dup" "r.(?)" "p.(Ser290GlufsTer13)" "" "0000836674" "00022844" "90" "868" "0" "869" "0" "c.868_869del" "r.(?)" "p.(Ser290LeufsTer12)" "" "0000836675" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.156c>a" "p.Cys52Ter" "" "0000836676" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.156c>a" "p.Cys52Ter" "" "0000836677" "00022844" "90" "670" "0" "670" "0" "c.670G>A" "r.(?)" "p.(Gly224Arg)" "" "0000836678" "00022844" "90" "624" "0" "624" "0" "c.624dup" "r.(?)" "p.(Cys209MetfsTer21)" "" "0000836679" "00022844" "90" "621" "0" "622" "0" "c.621_622delinsT" "r.(?)" "p.(Lys207AsnfsTer25)" "" "0000836680" "00022844" "90" "725" "0" "726" "0" "c.725_726del" "r.(?)" "p.(Lys242ArgfsTer36)" "" "0000836681" "00022844" "90" "725" "0" "726" "0" "c.725_726del" "r.(?)" "p.(Lys242ArgfsTer36)" "" "0000836682" "00022844" "90" "624" "0" "624" "0" "c.624dup" "r.(?)" "p.(Cys209MetfsTer21)" "" "0000836683" "00022844" "90" "862" "0" "863" "0" "c.862_863dup" "r.(?)" "p.(Gln289LeufsTer25)" "" "0000836684" "00022844" "90" "868" "0" "869" "0" "c.868_869del" "r.(?)" "p.(Ser290LeufsTer12)" "" "0000836685" "00022844" "90" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Cys335Tyr)" "" "0000836686" "00022844" "90" "49" "-763" "49" "-763" "c.49-763G>T" "r.48_49ins49-749_49-618" "p.Phe17Asnfs*42" "" "0000836687" "00022844" "90" "589" "27" "589" "27" "c.589+27C>G" "r.589_590ins[589+1_589+26;g]" "p.Ala197Glyfs*5" "" "0000836688" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836689" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836690" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836691" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836692" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836693" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836694" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836695" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836696" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836697" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836698" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836699" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836700" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836701" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836702" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836703" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836704" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836705" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836706" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836707" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.248g>a" "p.Gly83Glu" "" "0000836708" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.248g>a" "p.Gly83Glu" "" "0000836709" "00022844" "90" "589" "0" "589" "0" "c.589G>C" "r.[589g>c;598_590ins589+1_589+27]" "p.Ala197Argfs*5" "" "0000836710" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836711" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836712" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836713" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836714" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836715" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836716" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000836717" "00022844" "90" "536" "0" "537" "0" "c.536_537del" "r.(?)" "p.(Cys179Ter)" "" "0000836718" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836719" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836720" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836721" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836722" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836723" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000836724" "00022844" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000881177" "00025690" "70" "643" "0" "643" "0" "c.643G>C" "r.(?)" "p.(Ala215Pro)" "" "0000924406" "00022844" "30" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Pro26Leu)" "" "0000924406" "00025690" "30" "131" "0" "131" "0" "c.131C>T" "r.(?)" "p.(Pro44Leu)" "" "0000924407" "00022844" "30" "91" "0" "91" "0" "c.91C>A" "r.(?)" "p.(Pro31Thr)" "" "0000924407" "00025690" "30" "145" "0" "145" "0" "c.145C>A" "r.(?)" "p.(Pro49Thr)" "" "0000924408" "00022844" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52Ter)" "" "0000924408" "00025690" "90" "210" "0" "210" "0" "c.210C>A" "r.(?)" "p.(Cys70Ter)" "" "0001035413" "00022844" "30" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Arg60His)" "" "0001035413" "00025690" "30" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Arg78His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 214 "{{screeningid}}" "{{variantid}}" "0000250537" "0000579837" "0000250537" "0000579838" "0000250538" "0000579839" "0000250538" "0000836629" "0000250539" "0000579840" "0000250539" "0000579841" "0000250540" "0000579842" "0000250541" "0000579843" "0000250542" "0000579844" "0000250543" "0000579845" "0000250544" "0000579846" "0000250544" "0000579847" "0000250544" "0000579849" "0000250545" "0000579848" "0000250546" "0000579850" "0000250546" "0000579851" "0000264193" "0000593748" "0000264194" "0000593747" "0000264194" "0000593792" "0000264418" "0000594970" "0000264418" "0000595027" "0000264419" "0000594971" "0000264420" "0000594972" "0000264421" "0000594973" "0000264422" "0000594974" "0000264423" "0000594975" "0000264424" "0000594976" "0000264425" "0000594977" "0000264426" "0000594978" "0000264427" "0000594979" "0000264428" "0000594980" "0000264429" "0000594981" "0000264430" "0000594982" "0000264431" "0000594983" "0000264432" "0000594984" "0000264433" "0000594985" "0000264434" "0000594986" "0000264435" "0000594987" "0000264436" "0000594988" "0000264437" "0000594989" "0000264437" "0000595024" "0000264438" "0000594990" "0000264439" "0000594991" "0000264440" "0000594992" "0000264441" "0000594993" "0000264442" "0000594994" "0000264443" "0000594995" "0000264443" "0000595023" "0000264444" "0000594996" "0000264445" "0000594997" "0000264446" "0000594998" "0000264447" "0000594999" "0000264448" "0000595000" "0000264448" "0000595026" "0000264449" "0000595001" "0000264450" "0000595002" "0000264451" "0000595003" "0000264452" "0000595004" "0000264453" "0000595005" "0000264454" "0000595006" "0000264454" "0000595025" "0000264455" "0000595007" "0000264456" "0000595008" "0000264457" "0000595009" "0000264458" "0000595010" "0000264459" "0000595011" "0000264460" "0000595012" "0000264461" "0000595013" "0000264462" "0000595014" "0000264463" "0000595015" "0000264464" "0000595016" "0000264465" "0000595017" "0000264466" "0000595018" "0000264467" "0000595019" "0000264468" "0000595020" "0000264469" "0000595021" "0000264470" "0000595022" "0000264471" "0000595028" "0000264472" "0000595029" "0000264473" "0000595030" "0000264473" "0000595075" "0000264474" "0000595031" "0000264474" "0000595076" "0000264475" "0000595032" "0000264476" "0000595033" "0000264477" "0000595034" "0000264478" "0000595035" "0000264479" "0000595036" "0000264480" "0000595037" "0000264481" "0000595038" "0000264482" "0000595039" "0000264483" "0000595040" "0000264484" "0000595041" "0000264485" "0000595042" "0000264486" "0000595043" "0000264487" "0000595044" "0000264488" "0000595045" "0000264489" "0000595046" "0000264490" "0000595047" "0000264491" "0000595048" "0000264492" "0000595049" "0000264493" "0000595050" "0000264494" "0000595051" "0000264495" "0000595052" "0000264496" "0000595053" "0000264497" "0000595054" "0000264498" "0000595055" "0000264499" "0000595056" "0000264500" "0000595057" "0000264501" "0000595058" "0000264502" "0000595059" "0000264503" "0000595060" "0000264504" "0000595061" "0000264505" "0000595062" "0000264505" "0000595063" "0000296631" "0000653320" "0000332813" "0000730095" "0000332814" "0000730096" "0000402453" "0000836630" "0000402454" "0000836631" "0000402454" "0000836688" "0000402455" "0000836632" "0000402455" "0000836689" "0000402456" "0000836633" "0000402456" "0000836690" "0000402457" "0000836634" "0000402457" "0000836691" "0000402458" "0000836635" "0000402458" "0000836692" "0000402459" "0000836636" "0000402459" "0000836693" "0000402460" "0000836637" "0000402460" "0000836694" "0000402461" "0000836638" "0000402461" "0000836695" "0000402462" "0000836639" "0000402462" "0000836696" "0000402463" "0000836640" "0000402463" "0000836697" "0000402464" "0000836641" "0000402464" "0000836698" "0000402465" "0000836642" "0000402465" "0000836699" "0000402466" "0000836643" "0000402466" "0000836700" "0000402467" "0000836644" "0000402467" "0000836701" "0000402468" "0000836645" "0000402468" "0000836702" "0000402469" "0000836646" "0000402469" "0000836703" "0000402470" "0000836647" "0000402470" "0000836704" "0000402471" "0000836648" "0000402471" "0000836705" "0000402472" "0000836649" "0000402473" "0000836650" "0000402474" "0000836651" "0000402475" "0000836652" "0000402476" "0000836653" "0000402477" "0000836654" "0000402478" "0000836655" "0000402479" "0000836656" "0000402480" "0000836657" "0000402481" "0000836658" "0000402482" "0000836659" "0000402483" "0000836660" "0000402484" "0000836661" "0000402485" "0000836662" "0000402486" "0000836663" "0000402487" "0000836664" "0000402488" "0000836665" "0000402489" "0000836666" "0000402489" "0000836677" "0000402489" "0000836706" "0000402490" "0000836667" "0000402490" "0000836678" "0000402491" "0000836668" "0000402491" "0000836679" "0000402492" "0000836669" "0000402492" "0000836680" "0000402493" "0000836670" "0000402493" "0000836681" "0000402494" "0000836671" "0000402494" "0000836682" "0000402495" "0000836672" "0000402495" "0000836683" "0000402496" "0000836673" "0000402496" "0000836684" "0000402497" "0000836674" "0000402497" "0000836685" "0000402498" "0000836675" "0000402498" "0000836686" "0000402498" "0000836707" "0000402499" "0000836676" "0000402499" "0000836687" "0000402499" "0000836708" "0000402500" "0000836709" "0000402501" "0000836710" "0000402501" "0000836718" "0000402502" "0000836711" "0000402502" "0000836719" "0000402503" "0000836712" "0000402503" "0000836720" "0000402504" "0000836713" "0000402504" "0000836721" "0000402505" "0000836714" "0000402505" "0000836722" "0000402506" "0000836715" "0000402506" "0000836723" "0000402507" "0000836716" "0000402507" "0000836724" "0000402508" "0000836717" "0000420818" "0000881177"