### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EFNB1) # 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}}" "EFNB1" "ephrin-B1" "X" "q12" "unknown" "NG_008887.1" "UD_132118464662" "" "http://www.LOVD.nl/EFNB1" "" "1" "3226" "1947" "300035" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/EFNB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2014-11-02 20:03:49" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001449" "EFNB1" "ephrin-B1" "001" "NM_004429.4" "" "NP_004420.1" "" "" "" "-780" "2551" "1041" "68048840" "68062007" "00000" "2012-09-13 13:34:02" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00260" "CFND;CFNS" "dysplasia, craniofrontonasal (CFND, craniofrontonasal syndrome (CFNS))" "XLD" "304110" "" "" "" "00006" "2013-10-28 17:08:35" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04327" "CRS" "craniosynostosis (CRS)" "" "" "" "" "" "00006" "2015-09-12 20:59:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EFNB1" "00260" ## Individuals ## Do not remove or alter this header ## ## Count = 66 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00003094" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics" "" "F" "no" "" "" "0" "" "" "white" "" "00003095" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics; {PMID:Kapusta 1992:1468459}, {PMID:Twigg 2006:16685650}" "" "F" "no" "" "" "0" "" "" "white" "" "00003096" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics;" "" "F" "no" "" "" "0" "" "" "white" "" "00003097" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics;" "" "F" "no" "" "" "0" "" "" "white" "" "00003098" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics;" "" "F" "no" "" "" "0" "" "" "white" "" "00003099" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics;" "" "F" "no" "" "" "0" "" "" "white" "" "00003100" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics;" "" "F" "no" "" "" "0" "" "" "white" "" "00003101" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics, {PMID:Kapusta 1992:1468459}, {PMID:Twigg 2006:16685650}" "" "F" "no" "" "" "0" "" "" "white" "" "00003102" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics, {PMID:Kapusta 1992:1468459}" "" "F" "no" "" "" "0" "" "" "white" "" "00003103" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics, {PMID:Twigg 2006:16685650}" "" "F" "no" "" "" "0" "" "" "white" "" "00003104" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics" "" "F" "no" "" "" "0" "" "" "white" "" "00003105" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics{PMID:Kapusta 1992:1468459}, {PMID:Twigg 2006:16685650}" "" "M" "no" "" "" "0" "" "" "white" "" "00003106" "" "" "" "3" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics, {PMID:Kapusta 1992:1468459}, {PMID:Twigg 2006:16685650}" "family, 3 affecteds (2F, M)" "F" "no" "" "" "0" "" "" "white" "" "00003107" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics" "" "F" "no" "" "" "0" "" "" "white" "" "00003108" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics, {PMID:Twigg 2006:16685650}" "" "F" "no" "" "" "0" "" "" "white" "" "00003109" "" "" "" "3" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics, {PMID:Twigg 2006:16685650}" "family, 3 affected females" "F" "no" "" "" "0" "" "" "South-american" "" "00003110" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics;" "" "F" "" "" "" "0" "" "" "South-American" "" "00003111" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics" "" "F" "no" "" "" "0" "" "" "white" "" "00003112" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics{PMID:Kapusta 1992:1468459}, {PMID:Twigg 2006:16685650}" "" "F" "no" "" "" "0" "" "" "white" "" "00003113" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics{PMID:Kapusta 1992:1468459}, {PMID:Twigg 2006:16685650}" "" "F" "" "" "" "0" "" "" "white" "" "00003114" "" "" "" "1" "" "00151" "{PMID:Twigg 2013:23335590}, {DOI:Twigg 2013:10.1093/hmg/ddt015}" "" "F" "no" "" "" "0" "" "" "white" "" "00003115" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics, {PMID:Twigg 2006:16685650}" "" "F" "no" "" "" "0" "" "" "white" "" "00003116" "" "" "" "1" "" "00151" "Van den Elzen, submitted to European Journal of Human Genetics" "" "F" "" "" "" "0" "" "" "white" "" "00003117" "" "" "" "1" "" "00151" "{PMID:Kwee 1983:6627724}, {PMID:Twigg 2013:23335590}, {DOI:Twigg 2013:10.1093/hmg/ddt015}" "" "M" "no" "Netherlands" "" "0" "" "" "white" "" "00003125" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "only summary data are given - " "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377111-Pat?" "00003126" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "only summary data are given - " "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377112-Pat?" "00003196" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003197" "" "" "" "2" "" "00006" "{PMID:Twigg 2006:16685650}" "family, 2 affected females" "F" "" "" "" "" "" "" "" "" "00003198" "" "" "" "2" "" "00006" "{PMID:Twigg 2006:16685650}" "family, 2 affecteds (F, M)" "" "" "" "" "" "" "" "" "" "00003199" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003200" "" "" "" "5" "" "00006" "{PMID:Twigg 2006:16685650}" "family, 5 affecteds (4F, M)" "" "" "" "" "" "" "" "" "" "00003201" "" "" "" "2" "" "00006" "{PMID:Twigg 2006:16685650}" "family, 2 affecteds (F, M)" "" "" "" "" "" "" "" "" "" "00003202" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003203" "" "" "" "2" "" "00006" "{PMID:Twigg 2006:16685650}" "family, 2 affected females" "F" "" "" "" "" "" "" "" "" "00003204" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003205" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003206" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003207" "" "" "" "2" "" "00006" "{PMID:Twigg 2006:16685650}" "family, 2 affecteds (F, M)" "" "" "" "" "" "" "" "" "" "00003208" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003209" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003210" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003211" "" "" "" "4" "" "00006" "{PMID:Twigg 2006:16685650}" "family, 4 affecteds (3F, M)" "" "" "" "" "" "" "" "" "" "00003212" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003213" "" "" "" "2" "" "00006" "{PMID:Twigg 2006:16685650}" "family, 2 affecteds (F, M)" "" "" "" "" "" "" "" "" "" "00003214" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003215" "" "" "" "2" "" "00006" "{PMID:Twigg 2006:16685650}" "family, 2 affecteds (F, M)" "" "" "" "" "" "" "" "" "" "00003216" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003217" "" "" "" "5" "" "00006" "{PMID:Twigg 2006:16685650}" "family, 5 affecteds (4F, M)" "" "" "" "" "" "" "" "" "" "00003218" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003219" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003220" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003221" "" "" "" "2" "" "00006" "{PMID:Twigg 2006:16685650}" "family, 2 affected females" "F" "" "" "" "" "" "" "" "" "00003222" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003223" "" "" "" "2" "" "00006" "{PMID:Twigg 2006:16685650}" "family, 2 affected females" "F" "" "" "" "" "" "" "" "" "00003224" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003225" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003226" "" "" "" "1" "" "00006" "{PMID:Twigg 2006:16685650}" "" "F" "" "" "" "" "" "" "" "" "00003227" "" "" "" "4" "" "00006" "{PMID:Twigg 2006:16685650}" "family, 4 affected females" "F" "" "" "" "" "" "" "" "" "00003233" "" "" "" "5" "" "00006" "{PMID:Wieland 2004:15124102}" "3-generation family, 3 affected females, 2 carrier males (1 not, 1 mildly affected)" "" "no" "" "" "0" "" "" "white" "" "00003234" "" "" "" "8" "" "00006" "{PMID:Wieland 2004:15124102}" "5-generation family, 5 affected females, 3 carrier males" "" "no" "" "" "0" "" "" "" "" "00003235" "" "" "" "3" "" "00006" "{PMID:Wieland 2004:15124102}" "3-generation family, affected mother/daugther, carrier grandfather" "" "no" "" "" "0" "" "" "" "" "00019820" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00152529" "" "" "" "1" "" "02380" "" "" "" "" "" "" "0" "" "" "" "" "00152530" "" "" "" "1" "" "02380" "" "" "" "" "" "" "0" "" "" "" "" "00208761" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 65 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00003094" "00260" "00003095" "00260" "00003096" "00260" "00003097" "00260" "00003098" "00260" "00003099" "00260" "00003100" "00260" "00003101" "00260" "00003102" "00260" "00003103" "00260" "00003104" "00260" "00003105" "00260" "00003106" "00260" "00003107" "00260" "00003108" "00260" "00003109" "00260" "00003110" "00260" "00003111" "00260" "00003112" "00260" "00003113" "00260" "00003114" "00260" "00003115" "00260" "00003116" "00260" "00003117" "00260" "00003125" "00187" "00003126" "00187" "00003196" "00260" "00003197" "00260" "00003198" "00260" "00003199" "00260" "00003200" "00260" "00003201" "00260" "00003202" "00260" "00003203" "00260" "00003204" "00260" "00003205" "00260" "00003206" "00260" "00003207" "00260" "00003208" "00260" "00003209" "00260" "00003210" "00260" "00003211" "00260" "00003212" "00260" "00003213" "00260" "00003214" "00260" "00003215" "00260" "00003216" "00260" "00003217" "00260" "00003218" "00260" "00003219" "00260" "00003220" "00260" "00003221" "00260" "00003222" "00260" "00003223" "00260" "00003224" "00260" "00003225" "00260" "00003226" "00260" "00003227" "00260" "00003233" "00260" "00003234" "00260" "00003235" "00260" "00019820" "00260" "00152529" "04327" "00152530" "04327" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00260, 01157, 04327 ## Count = 66 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000001943" "00187" "00003125" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "0000001944" "00187" "00003126" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "0000001950" "00260" "00003095" "00151" "Familial, X-linked dominant" "" "Sprengel deformity; coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000001953" "00260" "00003096" "00151" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000001954" "00260" "00003097" "00151" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000001955" "00260" "00003109" "00151" "Familial, X-linked dominant" "" "Sprengel deformity; coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000001956" "00260" "00003110" "00151" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000001957" "00260" "00003098" "00151" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000001958" "00260" "00003099" "00151" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000001959" "00260" "00003101" "00151" "Familial, X-linked dominant" "" "coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000001960" "00260" "00003100" "00151" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000001974" "00260" "00003102" "00151" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000001979" "00260" "00003103" "00151" "Familial, X-linked dominant" "" "no coronal craniosynostosis (left/right); no cleft lip; cleft palate (uvula); duplex thumb right; agenesis corpus callosum; developmental delay" "" "" "" "" "" "" "" "" "" "" "0000001981" "00260" "00003104" "00151" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000001982" "00260" "00003106" "00151" "Familial, X-linked dominant" "" "coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; developmental delay" "" "" "" "" "" "" "" "" "" "" "0000001984" "00260" "00003107" "00151" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000001986" "00260" "00003108" "00151" "Familial, X-linked dominant" "" "no coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux" "" "" "" "" "" "" "" "" "" "" "0000001987" "00260" "00003094" "00151" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000001989" "00260" "00003105" "00151" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000001990" "00260" "00003115" "00151" "Familial, X-linked dominant" "" "coronal craniosynostosis left; no cleft lip; no cleft palate; duplex hallux right; no agenesis corpus callosum; developmental delay" "" "" "" "" "" "" "" "" "" "" "0000001992" "00260" "00003111" "00151" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000001993" "00260" "00003116" "00151" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000001994" "00260" "00003112" "00151" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000001995" "00260" "00003113" "00151" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000002036" "00260" "00003196" "00006" "Isolated (sporadic)" "" "no coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000002037" "00260" "00003197" "00006" "Familial" "" "coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "0000002038" "00260" "00003198" "00006" "Familial" "" "coronal craniosynostosis right; no cleft lip; no cleft palate; no duplex thumb/hallux; agenesis corpus callosum; duplex kidney; Bartholin cyst" "" "" "" "" "" "" "" "" "" "" "0000002039" "00260" "00003199" "00006" "Isolated (sporadic)" "" "no coronal craniosynostosis (left/right); no cleft lip; no cleft palate; duplex hallux left; partial agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000002040" "00260" "00003200" "00006" "Familial" "" "coronal craniosynostosis left; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; diaphragmatic hernia (son)" "" "" "" "" "" "" "" "" "" "" "0000002041" "00260" "00003201" "00006" "Familial" "" "coronal craniosynostosis right; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000002042" "00260" "00003202" "00006" "Isolated (sporadic)" "" "no coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000002043" "00260" "00003203" "00006" "Familial" "" "no coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux" "" "" "" "" "" "" "" "" "" "" "0000002044" "00260" "00003204" "00006" "Isolated (sporadic)" "" "coronal craniosynostosis left; cleft lip; cleft palate; duplex hallux left/right; partial agenesis corpus callosum; developmental delay" "" "" "" "" "" "" "" "" "" "" "0000002045" "00260" "00003205" "00006" "Isolated (sporadic)" "" "coronal craniosynostosis left; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; intracranial dermoid; double uterus" "" "" "" "" "" "" "" "" "" "" "0000002046" "00260" "00003206" "00006" "Isolated (sporadic)" "" "coronal craniosynostosis (left/right); cleft lip; cleft palate; no duplex thumb/hallux; no agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000002047" "00260" "00003207" "00006" "Familial" "" "coronal craniosynostosis left; no cleft lip; no cleft palate; no duplex thumb/hallux" "" "" "" "" "" "" "" "" "" "" "0000002048" "00260" "00003208" "00006" "Isolated (sporadic)" "" "coronal craniosynostosis (left/right); no cleft lip; no cleft palate; duplex hallux right; no agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000002049" "00260" "00003209" "00006" "Isolated (sporadic)" "" "coronal craniosynostosis right; no cleft lip; no cleft palate; no duplex thumb/hallux; partial agenesis corpus callosum; duplex left kidney" "" "" "" "" "" "" "" "" "" "" "0000002050" "00260" "00003210" "00006" "Isolated (sporadic)" "" "coronal craniosynostosis left; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; ulnar clinodactyly right middle finger" "" "" "" "" "" "" "" "" "" "" "0000002051" "00260" "00003211" "00006" "Familial" "" "coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000002052" "00260" "00003212" "00006" "Isolated (sporadic)" "" "coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; cerebellar dysplasia; vesico-ureteric reflux" "" "" "" "" "" "" "" "" "" "" "0000002053" "00260" "00003213" "00006" "Familial" "" "coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000002054" "00260" "00003214" "00006" "Isolated (sporadic)" "" "no coronal craniosynostosis (left/right); no cleft lip; no cleft palate; duplex hallux left; partial agenesis corpus callosum; developmental delay" "" "" "" "" "" "" "" "" "" "" "0000002055" "00260" "00003215" "00006" "Familial" "" "coronal craniosynostosi; cleft lip; cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; diaphragmatic hernia; sacrococcygeal teratoma (son)" "" "" "" "" "" "" "" "" "" "" "0000002056" "00260" "00003216" "00006" "Isolated (sporadic)" "" "coronal craniosynostosis right; no cleft lip; cleft palate; no duplex thumb/hallux; no agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000002057" "00260" "00003217" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "0000002058" "00260" "00003218" "00006" "Isolated (sporadic)" "" "no cleft lip; no cleft palate; no duplex thumb/hallux; agenesis corpus callosum; developmental delay" "" "" "" "" "" "" "" "" "" "" "0000002059" "00260" "00003219" "00006" "Isolated (sporadic)" "" "coronal craniosynostosis right; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000002060" "00260" "00003220" "00006" "Isolated (sporadic)" "" "coronal craniosynostosi; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000002061" "00260" "00003221" "00006" "Familial" "" "coronal craniosynostosis left; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; diaphragmatic hernia right" "" "" "" "" "" "" "" "" "" "" "0000002062" "00260" "00003222" "00006" "Isolated (sporadic)" "" "coronal craniosynostosis right; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; bilateral dysplastic hips" "" "" "" "" "" "" "" "" "" "" "0000002063" "00260" "00003223" "00006" "Familial" "" "coronal craniosynostosis left; no cleft lip; no cleft palate; no duplex thumb/hallux; partial agenesis corpus callosum; mother bicornuate uterus" "" "" "" "" "" "" "" "" "" "" "0000002064" "00260" "00003224" "00006" "Isolated (sporadic)" "" "coronal craniosynostosis right; no cleft lip; no cleft palate; no duplex thumb/hallux; agenesis corpus callosum; sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "" "0000002065" "00260" "00003225" "00006" "Isolated (sporadic)" "" "coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000002066" "00260" "00003226" "00006" "Isolated (sporadic)" "" "coronal craniosynostosis right; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000002067" "00260" "00003227" "00006" "Familial" "" "coronal craniosynostosis left; no cleft lip; no cleft palate; no duplex thumb/hallux; developmental delay" "" "" "" "" "" "" "" "" "" "" "0000002073" "00260" "00003233" "00006" "Familial, X-linked dominant, male sparing" "" "hypertelorism, craniofacial abnormalities (orbital asymmetry), normal mental\r\nperformance, no behavioral abnormalitiesnormal body height; III1-hypertelorism, bifid nasal tip, grooved nails,\r\naxillary pterygium, slight pterygium colli; I2/II6, hypertelorism, grooved nails; male carriers II3/II5 hypertelorism" "" "" "" "" "" "" "" "" "" "" "0000002074" "00260" "00003234" "00006" "Familial, X-linked dominant, male sparing" "" "hypertelorism, orbital asymmetry, brachycephaly, brachydactyly, Sprengel deformity, normal mental performance, no behavioral abnormalitiesnormal body height; III6 had four miscarriages (mid-pregnancy), uterus arcuatus, curly hair, grooved finger nails, unilateral breast hypoplasia; III2 (male) phenotypic abnormalities; V3 (male) broad nasal bridge (9y inner canthel distance 3.8 cm)" "" "" "" "" "" "" "" "" "" "" "0000002075" "00260" "00003235" "00006" "Familial, X-linked dominant, male sparing" "" "normal mental performance, no behavioral abnormalitiesnormal body height; I1 (male) slight facial asymmetry, broad nasal bridge; II1 severe facial asymmetry, hypertelorism, hypoplasia corpus callosum; III2 facial asymmetry, hypertelorism, agenesis corpus callosum, complete syndactyly left 3/4th finger, scoliosis" "" "" "" "" "" "" "" "" "" "" "0000017669" "00260" "00019820" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "0000049865" "00260" "00003114" "00006" "Familial, X-linked" "" "coronal craniosynostosis R (HP:0004440), hypertelorism (HP:0000316), grooved nasal tip (HP:0000456), no down slanting palpebral fissures (-HP:0000494), unilateral cleft lip (HP:0100333), cleft palate (HP:0000175), no agenesis corpus callosum (-HP:0001274), mild learning disability (HP:0001328), no Sprengel deformity (-HP:0000912), grooved nails (HP:0001807), no brachydactyly (-HP:0001156), syndactyly 2nd-3rd toes L (HP:0004691), no clinodactyly (-HP:0030084), no low set ears (-HP:0000369), wiry hair, ptosis (HP:0000508), no undescended testes (-HP:0000028), small ASD-resolved spontaneously, sloping shoulders, umbilical hernia (HP:0001537)" "" "" "" "" "" "" "" "" "" "" "0000049866" "00260" "00003117" "00006" "Familial, X-linked" "" "coronal craniosynostosis R/L (HP:0004440), hypertelorism (HP:0000316), grooved nasal tip (HP:0000456), nodown slanting palpebral fissures (HP:0000494), high arched palate (HP:0002705), agenesis corpus callosum (HP:0001274), mild learning disability (HP:0001328), Sprengel deformity (HP:0000912), grooved nails (HP:0001807), brachydactyly (-HP:0001156) delta phalanx digit one right hand, syndactyly 2nd-3rd toes L (HP:0004691), no clinodactyly (-HP:0030084), low set ears (-HP:0000369), no wiry hair, ptosis (HP:0000508) left eye only, undescended testes R/L (HP:0000028), mild pectus excavatum, duplication of distal phalanx R thumb, postaxial polydactyly type B R hand, R inguinal hernia" "" "" "" "" "" "" "" "" "" "" "0000125630" "04327" "00152529" "02380" "Unknown" "" "unicoronal synostosis, left (HP:0011315)" "" "" "" "" "" "" "" "" "" "craniosynostosis affecting left coronal sutures" "0000125633" "04327" "00152530" "02380" "Unknown" "" "sagittal craniosynostosis (HP:0004442)" "" "" "" "" "" "" "" "" "" "sagittal craniosynostosis" "0000157379" "00198" "00208761" "01164" "Unknown" "" "HP:0001263 (Global developmental delay); HP:0012759 (Neurodevelopmental abnormality); HP:0001999 (Abnormal facial shape)" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 66 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000003008" "00003094" "1" "00151" "00151" "2013-10-21 17:16:23" "" "" "MLPA;SEQ" "DNA" "" "" "0000003009" "00003095" "1" "00151" "00151" "2013-10-21 17:34:31" "" "" "DHPLC;PCR;SEQ" "DNA" "" "" "0000003010" "00003096" "1" "00151" "00151" "2013-10-21 17:44:31" "" "" "MLPA;SEQ" "DNA" "" "" "0000003011" "00003097" "1" "00151" "00151" "2013-10-21 17:51:09" "" "" "MLPA;SEQ" "DNA" "" "" "0000003012" "00003098" "1" "00151" "00151" "2013-10-21 18:10:45" "" "" "MLPA;SEQ" "DNA" "" "" "0000003013" "00003099" "1" "00151" "00151" "2013-10-21 18:21:04" "" "" "MLPA;SEQ" "DNA" "" "" "0000003014" "00003100" "1" "00151" "00151" "2013-10-21 18:29:12" "" "" "MLPA;SEQ" "DNA" "" "" "0000003015" "00003101" "1" "00151" "00151" "2013-10-21 18:33:33" "" "" "DHPLC;PCR;SEQ" "DNA" "" "" "0000003016" "00003102" "1" "00151" "00151" "2013-10-21 18:38:28" "" "" "MLPA;SEQ" "DNA" "" "" "0000003017" "00003103" "1" "00151" "00151" "2013-10-21 18:42:05" "" "" "DHPLC;PCR;SEQ" "DNA" "" "" "0000003018" "00003104" "1" "00151" "00151" "2013-10-21 18:45:21" "" "" "MLPA;SEQ" "DNA" "" "" "0000003019" "00003105" "1" "00151" "00151" "2013-10-21 18:48:08" "" "" "MLPA;SEQ" "DNA" "" "" "0000003020" "00003106" "1" "00151" "00151" "2013-10-21 18:52:21" "" "" "DHPLC;PCR;SEQ" "DNA" "" "" "0000003021" "00003107" "1" "00151" "00151" "2013-10-21 19:01:32" "" "" "MLPA;SEQ" "DNA" "" "" "0000003022" "00003108" "1" "00151" "00151" "2013-10-21 19:04:15" "" "" "DHPLC;PCR;SEQ" "DNA" "" "" "0000003023" "00003109" "1" "00151" "00151" "2013-10-21 19:08:03" "" "" "DHPLC;PCR;SEQ" "DNA" "" "" "0000003024" "00003110" "1" "00151" "00151" "2013-10-21 19:10:46" "" "" "DHPLC;PCR;SEQ" "DNA" "" "" "0000003025" "00003111" "1" "00151" "00151" "2013-10-22 16:56:22" "" "" "MLPA;SEQ" "DNA" "" "" "0000003026" "00003112" "1" "00151" "00151" "2013-10-22 17:00:36" "" "" "DHPLC;PCR;SEQ" "DNA" "" "" "0000003027" "00003113" "1" "00151" "00151" "2013-10-22 17:06:22" "" "" "DHPLC;PCR;SEQ" "DNA" "" "" "0000003028" "00003114" "1" "00151" "00151" "2013-10-25 12:29:48" "00006" "2016-04-08 18:58:06" "DHPLC;MLPA;PCR;RT-PCR;SEQ-NG" "DNA;RNA" "blood, buccal scrapings, hair roots" "" "0000003029" "00003115" "1" "00151" "00151" "2013-10-25 12:47:03" "" "" "DHPLC;PCR;SEQ" "DNA" "" "" "0000003030" "00003116" "1" "00151" "00151" "2013-10-25 12:51:21" "" "" "MLPA;SEQ" "DNA" "" "" "0000003031" "00003117" "1" "00151" "00151" "2013-10-25 13:24:22" "" "" "DHPLC;MLPA;PCR;SEQ" "DNA" "" "" "0000003040" "00003125" "1" "00124" "00006" "2013-10-28 22:44:48" "" "" "SEQ" "DNA" "" "" "0000003041" "00003126" "1" "00124" "00006" "2013-10-28 22:48:32" "" "" "SEQ" "DNA" "" "" "0000003113" "00003196" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003114" "00003197" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003115" "00003198" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003116" "00003199" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003117" "00003200" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003118" "00003201" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003119" "00003202" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003120" "00003203" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003121" "00003204" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003122" "00003205" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003123" "00003206" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003124" "00003207" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003125" "00003208" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003126" "00003209" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003127" "00003210" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003128" "00003211" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003129" "00003212" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003130" "00003213" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003131" "00003214" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "ASO;SEQ" "DNA" "" "" "0000003132" "00003215" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003133" "00003216" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003134" "00003217" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003135" "00003218" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003136" "00003219" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003137" "00003220" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003138" "00003221" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003139" "00003222" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003140" "00003223" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "MLPA;Southern;SEQ" "DNA" "" "" "0000003141" "00003224" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "MLPA;SEQ" "DNA" "" "" "0000003142" "00003225" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "MLPA;Southern;SEQ" "DNA" "" "" "0000003143" "00003226" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003144" "00003227" "1" "00006" "00006" "2013-11-02 17:37:47" "" "" "SEQ" "DNA" "" "" "0000003150" "00003233" "1" "00006" "00006" "2013-11-03 10:43:27" "" "" "PCR;Southern" "DNA" "" "" "0000003151" "00003234" "1" "00006" "00006" "2013-11-03 11:05:41" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000003152" "00003235" "1" "00006" "00006" "2013-11-03 11:15:00" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000019805" "00019820" "1" "00738" "00738" "2014-08-26 13:11:09" "" "" "SEQ" "DNA" "" "" "0000153386" "00152529" "1" "02380" "02380" "2018-02-02 17:10:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000153387" "00152530" "1" "02380" "02380" "2018-02-02 17:12:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000209810" "00208761" "1" "01164" "01164" "2018-12-14 14:03:45" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 64 "{{screeningid}}" "{{geneid}}" "0000003008" "EFNB1" "0000003009" "EFNB1" "0000003010" "EFNB1" "0000003011" "EFNB1" "0000003012" "EFNB1" "0000003013" "EFNB1" "0000003014" "EFNB1" "0000003015" "EFNB1" "0000003016" "EFNB1" "0000003017" "EFNB1" "0000003018" "EFNB1" "0000003019" "EFNB1" "0000003020" "EFNB1" "0000003021" "EFNB1" "0000003022" "EFNB1" "0000003023" "EFNB1" "0000003024" "EFNB1" "0000003025" "EFNB1" "0000003026" "EFNB1" "0000003027" "EFNB1" "0000003028" "EFNB1" "0000003029" "EFNB1" "0000003030" "EFNB1" "0000003031" "EFNB1" "0000003040" "EFNB1" "0000003041" "EFNB1" "0000003113" "EFNB1" "0000003114" "EFNB1" "0000003115" "EFNB1" "0000003116" "EFNB1" "0000003117" "EFNB1" "0000003118" "EFNB1" "0000003119" "EFNB1" "0000003120" "EFNB1" "0000003121" "EFNB1" "0000003122" "EFNB1" "0000003123" "EFNB1" "0000003124" "EFNB1" "0000003125" "EFNB1" "0000003126" "EFNB1" "0000003127" "EFNB1" "0000003128" "EFNB1" "0000003129" "EFNB1" "0000003130" "EFNB1" "0000003131" "EFNB1" "0000003132" "EFNB1" "0000003133" "EFNB1" "0000003134" "EFNB1" "0000003135" "EFNB1" "0000003136" "EFNB1" "0000003137" "EFNB1" "0000003138" "EFNB1" "0000003139" "EFNB1" "0000003140" "EFNB1" "0000003141" "EFNB1" "0000003142" "EFNB1" "0000003143" "EFNB1" "0000003144" "EFNB1" "0000003150" "EFNB1" "0000003151" "EFNB1" "0000003152" "EFNB1" "0000019805" "EFNB1" "0000153386" "EFNB1" "0000153387" "EFNB1" ## 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 = 114 "{{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}}" "0000009136" "0" "50" "X" "68061227" "68061228" "del" "0" "00037" "EFNB1_000007" "g.68061227_68061228del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68841384_68841385del" "" "VUS" "" "0000021534" "0" "95" "X" "68049620" "68049620" "subst" "0" "00151" "EFNB1_000076" "g.68049620A>G" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "g.68829777A>G" "" "NA" "" "0000021535" "0" "95" "X" "68049728" "68049728" "subst" "0" "00151" "EFNB1_000008" "g.68049728T>G" "" "{PMID:Twigg 2006:16685650}" "" "" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68829885T>G" "" "pathogenic" "" "0000021536" "0" "95" "X" "68058492" "68058492" "subst" "0" "00151" "EFNB1_000003" "g.68058492C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.68838649C>T" "" "pathogenic" "" "0000021537" "0" "95" "X" "68058559" "68058559" "subst" "0" "00151" "EFNB1_000004" "g.68058559C>G" "" "" "" "" "" "Unknown" "yes" "" "0" "" "" "g.68838716C>G" "" "pathogenic" "" "0000021538" "0" "95" "X" "68058597" "68058597" "subst" "0" "00151" "EFNB1_000006" "g.68058597G>A" "" "" "" "" "" "Unknown" "yes" "" "0" "" "" "g.68838754G>A" "" "pathogenic" "" "0000021539" "0" "95" "X" "68058655" "68058655" "dup" "0" "00151" "EFNB1_000015" "g.68058655dup" "" "" "" "" "" "Unknown" "yes" "" "0" "" "" "g.68838812dup" "" "pathogenic" "" "0000021540" "0" "95" "X" "68058691" "68058691" "subst" "0" "00151" "EFNB1_000016" "g.68058691C>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.68838848C>A" "" "pathogenic" "" "0000021541" "0" "95" "X" "68058670" "68058670" "subst" "0" "00151" "EFNB1_000009" "g.68058670G>C" "" "{PMID:Twigg 2006:16685650}" "" "c.339G>C" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68838827G>C" "" "pathogenic" "" "0000021542" "0" "95" "X" "68058699" "68058699" "subst" "0" "00151" "EFNB1_000014" "g.68058699G>A" "" "" "" "" "" "Unknown" "yes" "" "0" "" "" "g.68838856G>A" "" "pathogenic" "" "0000021543" "0" "95" "X" "68059507" "68059507" "subst" "0" "00151" "EFNB1_000012" "g.68059507C>T" "" "{PMID:Twigg 2006:16685650}" "TseI-" "" "no mosaicism" "De novo" "yes" "" "0" "" "" "g.68839664C>T" "" "pathogenic" "" "0000021544" "0" "95" "X" "68059551" "68059551" "subst" "0" "00151" "EFNB1_000017" "g.68059551G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.68839708G>A" "" "pathogenic" "" "0000021545" "20" "95" "X" "68059596" "68059596" "subst" "0" "00151" "EFNB1_000010" "g.68059596C>T" "" "{PMID:Twigg 2006:16685650}" "" "496C>T (mosaic)" "" "Somatic" "yes" "" "0" "" "" "g.68839753C>T" "" "NA" "" "0000021546" "21" "95" "X" "68059596" "68059596" "subst" "0" "00151" "EFNB1_000010" "g.68059596C>T" "" "{PMID:Twigg 2006:16685650}" "" "c.496C>T" "no mosaicism (maternal)" "Germline" "yes" "" "0" "" "" "g.68839753C>T" "" "pathogenic" "" "0000021547" "0" "95" "X" "68059846" "68059846" "del" "0" "00151" "EFNB1_000018" "g.68059846del" "" "" "" "" "" "Unknown" "yes" "" "0" "" "" "g.68840003del" "" "pathogenic" "" "0000021548" "11" "55" "X" "68059867" "68059867" "dup" "0" "00151" "EFNB1_000011" "g.68059867dup" "" "{PMID:Twigg 2006:16685650}" "DrdI-" "564_565insT" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68840024dup" "" "VUS" "" "0000021549" "0" "95" "X" "68058564" "68058564" "subst" "0" "00151" "EFNB1_000005" "g.68058564T>C" "" "{PMID:Twigg 2006:16685650}" "BceAI+" "c.233T>C" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68838721T>C" "" "pathogenic" "" "0000021550" "21" "95" "X" "68058564" "68058564" "subst" "0" "00151" "EFNB1_000005" "g.68058564T>C" "" "{PMID:Twigg 2006:16685650}" "" "c.233T>C" "" "Germline" "yes" "" "0" "" "" "g.68838721T>C" "" "pathogenic" "" "0000021551" "11" "95" "X" "68058527" "68058527" "del" "0" "00151" "EFNB1_000020" "g.68058527del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.68838684del" "" "pathogenic" "" "0000021552" "0" "95" "X" "68059596" "68059596" "subst" "0" "00151" "EFNB1_000010" "g.68059596C>T" "" "{PMID:Twigg 2006:16685650}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68839753C>T" "" "pathogenic" "" "0000021553" "0" "95" "X" "68059596" "68059596" "subst" "0" "00151" "EFNB1_000010" "g.68059596C>T" "" "{PMID:Twigg 2006:16685650}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68839753C>T" "" "pathogenic" "" "0000021555" "0" "70" "X" "68049525" "68049525" "subst" "0" "00151" "EFNB1_000044" "g.68049525T>C" "" "{PMID:Twigg 2013:23335590}, {DOI:Twigg 2013:10.1093/hmg/ddt015}" "" "c.-95T>G" "mosaicism 0.19–0.54 in different tissues, absent in unaffected mother; variant in conserve uORF predicted to reduce protein translation" "Somatic" "yes" "" "0" "" "" "g.68829682T>C" "" "likely pathogenic" "" "0000021556" "0" "95" "X" "68049649" "68049649" "subst" "0" "00151" "EFNB1_000013" "g.68049649C>T" "" "{PMID:Twigg 2006:16685650}" "" "c.30C>T" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68829806C>T" "" "pathogenic" "" "0000021557" "0" "95" "X" "68059592" "68059601" "del" "0" "00151" "EFNB1_000019" "g.68059592_68059601del" "" "" "" "" "" "Unknown" "yes" "" "0" "" "" "g.68839749_68839758del" "" "pathogenic" "" "0000021559" "20" "90" "X" "68059112" "68067503" "del" "0" "00151" "EFNB1_000047" "g.68059112_68067503del" "" "{PMID:Twigg 2013:23335590}, {DOI:Twigg 2013:10.1093/hmg/ddt015}" "" "del exon 3-5" "low level mosaic deletion (0.17 cells)" "Somatic" "yes" "" "0" "" "" "g.68839269_68847660del" "" "pathogenic" "" "0000021567" "0" "55" "X" "68059522" "68059522" "subst" "0.00017641" "00124" "EFNB1_000001" "g.68059522G>C" "1/208 families" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.68839679G>C" "" "VUS" "" "0000021568" "21" "55" "X" "68060347" "68060347" "subst" "0.00104313" "00124" "EFNB1_000002" "g.68060347C>T" "1/208 families" "{PMID:Tarpey 2009:19377476}" "" "T297T" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.68840504C>T" "" "VUS" "" "0000021643" "0" "95" "X" "68049616" "68049623" "del" "0" "00006" "EFNB1_000021" "g.68049616_68049623del" "" "{PMID:Twigg 2006:16685650}" "BslI+" "" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68829773_68829780del" "" "pathogenic" "" "0000021644" "0" "95" "X" "68049728" "68049728" "subst" "0" "00006" "EFNB1_000008" "g.68049728T>G" "" "{PMID:Twigg 2006:16685650}" "" "" "" "Unknown" "yes" "" "" "" "" "g.68829885T>G" "" "pathogenic" "" "0000021645" "0" "95" "X" "68049729" "68049729" "subst" "0" "00006" "EFNB1_000022" "g.68049729G>A" "" "{PMID:Twigg 2006:16685650}" "BslI-" "" "mosaicism postzygotic male fetus" "Unknown" "yes" "" "0" "" "" "g.68829886G>A" "" "pathogenic" "" "0000021646" "21" "95" "X" "68049742" "68049742" "subst" "0" "00006" "EFNB1_000023" "g.68049742C>G" "" "{PMID:Twigg 2006:16685650}" "SmlI+" "" "no mosaicism" "Germline" "yes" "" "0" "" "" "g.68829899C>G" "" "pathogenic" "" "0000021647" "0" "95" "X" "68058482" "68058484" "del" "0" "00006" "EFNB1_000024" "g.68058482_68058484del" "" "{PMID:Twigg 2006:16685650}" "HphI-" "151_153delGTG" "" "Unknown" "yes" "" "0" "" "" "g.68838639_68838641del" "" "pathogenic" "" "0000021648" "0" "95" "X" "68058492" "68058492" "subst" "0" "00006" "EFNB1_000003" "g.68058492C>T" "" "{PMID:Twigg 2006:16685650}" "BslI-" "" "mosaicism postzygotic female fetus" "Unknown" "yes" "" "" "" "" "g.68838649C>T" "" "pathogenic" "" "0000021649" "0" "95" "X" "68058501" "68058502" "delins" "0" "00006" "EFNB1_000025" "g.68058501_68058502delinsTT" "" "{PMID:Twigg 2006:16685650}" "BslI-" "170_171GA>TT" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68838658_68838659delinsTT" "" "pathogenic" "" "0000021650" "0" "95" "X" "68058522" "68058522" "subst" "0" "00006" "EFNB1_000026" "g.68058522G>A" "" "{PMID:Twigg 2006:16685650}" "" "" "mosaicism postzygotic female fetus" "Unknown" "yes" "" "0" "" "" "g.68838679G>A" "" "pathogenic" "" "0000021651" "0" "95" "X" "68058527" "68058527" "subst" "0" "00006" "EFNB1_000027" "g.68058527C>T" "" "{PMID:Twigg 2006:16685650}" "AvaI-" "" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68838684C>T" "" "pathogenic" "" "0000021652" "0" "95" "X" "68058527" "68058527" "subst" "0" "00006" "EFNB1_000027" "g.68058527C>T" "" "{PMID:Twigg 2006:16685650}" "AvaI-" "" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68838684C>T" "" "pathogenic" "" "0000021653" "11" "95" "X" "68058527" "68058527" "subst" "0" "00006" "EFNB1_000027" "g.68058527C>T" "" "{PMID:Twigg 2006:16685650}" "AvaI-" "" "no mosaicism" "Germline" "yes" "" "0" "" "" "g.68838684C>T" "" "pathogenic" "" "0000021654" "0" "95" "X" "68058527" "68058527" "del" "0" "00006" "EFNB1_000020" "g.68058527del" "" "{PMID:Twigg 2006:16685650}" "" "" "mosaicism postzygotic female fetus" "Unknown" "yes" "" "0" "" "" "g.68838684del" "" "pathogenic" "" "0000021655" "0" "95" "X" "68058551" "68058551" "subst" "0" "00006" "EFNB1_000029" "g.68058551G>T" "" "{PMID:Twigg 2006:16685650}" "" "" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68838708G>T" "" "pathogenic" "" "0000021656" "0" "95" "X" "68058596" "68058596" "subst" "0" "00006" "EFNB1_000030" "g.68058596T>C" "" "{PMID:Twigg 2006:16685650}" "SfcI-" "" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68838753T>C" "" "pathogenic" "" "0000021657" "0" "95" "X" "68058597" "68058597" "subst" "0" "00006" "EFNB1_000006" "g.68058597G>A" "" "{PMID:Twigg 2006:16685650}" "" "" "no mosaicism" "Unknown" "yes" "" "" "" "" "g.68838754G>A" "" "pathogenic" "" "0000021658" "0" "95" "X" "68058686" "68058686" "subst" "0" "00006" "EFNB1_000031" "g.68058686C>G" "" "{PMID:Twigg 2006:16685650}" "HhaI+" "" "" "Unknown" "yes" "" "0" "" "" "g.68838843C>G" "" "pathogenic" "" "0000021659" "11" "95" "X" "68058694" "68058694" "subst" "0" "00006" "EFNB1_000032" "g.68058694C>A" "" "{PMID:Twigg 2006:16685650}" "NlaIII-" "" "no mosaicism" "Germline" "yes" "" "0" "" "" "g.68838851C>A" "" "pathogenic" "" "0000021660" "0" "95" "X" "68058699" "68058699" "subst" "0" "00006" "EFNB1_000014" "g.68058699G>A" "" "{PMID:Twigg 2006:16685650}" "AvaII+" "" "no mosaicism (maternal)" "Unknown" "yes" "" "" "" "" "g.68838856G>A" "" "pathogenic" "" "0000021661" "0" "95" "X" "68058729" "68058729" "del" "0" "00006" "EFNB1_000033" "g.68058729del" "" "{PMID:Twigg 2006:16685650}" "" "" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68838886del" "" "pathogenic" "" "0000021662" "0" "95" "X" "68059532" "68059532" "del" "0" "00006" "EFNB1_000034" "g.68059532del" "" "{PMID:Twigg 2006:16685650}" "BglI+" "" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68839689del" "" "pathogenic" "" "0000021663" "0" "95" "X" "68059545" "68059545" "subst" "0" "00006" "EFNB1_000035" "g.68059545G>T" "" "{PMID:Twigg 2006:16685650}" "NciI-" "" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68839702G>T" "" "pathogenic" "" "0000021664" "0" "95" "X" "68059551" "68059551" "subst" "0" "00006" "EFNB1_000017" "g.68059551G>A" "" "{PMID:Twigg 2006:16685650}" "AciI-" "" "" "Unknown" "yes" "" "" "" "" "g.68839708G>A" "" "pathogenic" "" "0000021665" "0" "95" "X" "68059552" "68059552" "subst" "0" "00006" "EFNB1_000036" "g.68059552G>A" "" "{PMID:Twigg 2006:16685650}" "AciI-" "" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68839709G>A" "" "pathogenic" "" "0000021666" "11" "95" "X" "68059558" "68059558" "subst" "0" "00006" "EFNB1_000037" "g.68059558G>C" "" "{PMID:Twigg 2006:16685650}" "MwoI-" "" "no mosaicism" "Germline" "yes" "" "0" "" "" "g.68839715G>C" "" "pathogenic" "" "0000021667" "0" "95" "X" "68059890" "68059890" "del" "0" "00006" "EFNB1_000038" "g.68059890del" "" "{PMID:Twigg 2006:16685650}" "XcmI+" "" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68840047del" "" "pathogenic" "" "0000021668" "0" "95" "X" "68060091" "68060092" "del" "0" "00006" "EFNB1_000039" "g.68060091_68060092del" "" "{PMID:Twigg 2006:16685650}" "Hpy8I-" "635_636delTG" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68840248_68840249del" "" "pathogenic" "" "0000021669" "0" "95" "X" "68060450" "68060451" "ins" "0" "00006" "EFNB1_000040" "g.68060450_68060451insTC" "" "{PMID:Twigg 2006:16685650}" "Hpy188III+" "993_994insCT" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68840607_68840608insTC" "" "pathogenic" "" "0000021670" "21" "95" "X" "68048840" "68059599" "del" "0" "00006" "EFNB1_000000" "g.(?_68048840)_(68059599_68059803)del" "" "{PMID:Twigg 2006:16685650}" "" "del ex1-3" "no mosaicism" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000021671" "11" "95" "X" "68048840" "68062007" "del" "0" "00006" "EFNB1_000000" "g.(?_68048840)_(68062007_?)del" "" "{PMID:Twigg 2006:16685650}" "" "del ex1-5" "no mosaicism" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000021672" "21" "95" "X" "68048840" "68062007" "del" "0" "00006" "EFNB1_000000" "g.(?_68048840)_(68062007_?)del" "" "{PMID:Twigg 2006:16685650}" "" "del ex1-5" "no mosaicism" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000021673" "0" "95" "X" "68059506" "68059506" "subst" "0" "00006" "EFNB1_000041" "g.68059506G>A" "" "{PMID:Twigg 2006:16685650}" "PstI-" "" "mosaicism postzygotic female fetus" "Unknown" "yes" "" "0" "" "" "g.68839663G>A" "" "pathogenic" "" "0000021674" "0" "95" "X" "68059801" "68059801" "subst" "0" "00006" "EFNB1_000028" "g.68059801A>G" "" "{PMID:Twigg 2006:16685650}" "BamHI+" "" "no mosaicism" "Unknown" "yes" "" "0" "" "" "g.68839958A>G" "" "pathogenic" "" "0000021680" "0" "95" "X" "68058459" "68087012" "" "0" "00006" "EFNB1_000042" "g.(68049748_68058459)_(68087012_68197356)del" "" "{PMID:Wieland 2004:15124102}, {OMIM300035:0001}" "" "ex2-5 deletion" "29-148kb deletion, distal breakpoint between RH65456 and DXS981; ex2del not in 100 control chromosomes" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000021681" "0" "75" "X" "68058663" "68058663" "subst" "0" "00006" "EFNB1_000043" "g.68058663C>T" "" "{PMID:Wieland 2004:15124102}, {OMIM300035:0002}" "" "1023C>T (Thr111Ile)" "not in 150 contol chromosomes" "Germline" "yes" "" "0" "" "" "g.68838820C>T" "" "likely pathogenic" "" "0000021682" "0" "75" "X" "68058492" "68058492" "subst" "0" "00006" "EFNB1_000003" "g.68058492C>T" "" "{PMID:Wieland 2004:15124102}, {OMIM300035:0003}" "" "862C>T" "not in 150 control chromosomes" "Germline" "yes" "" "0" "" "" "g.68838649C>T" "" "likely pathogenic" "" "0000040252" "0" "70" "X" "68059552" "68059552" "subst" "0" "00738" "EFNB1_000036" "g.68059552G>A" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Germline" "" "" "0" "" "" "g.68839709G>A" "" "likely pathogenic" "" "0000094337" "0" "90" "X" "68049525" "68049525" "subst" "0" "00006" "EFNB1_000044" "g.68049525T>C" "" "{PMID:Twigg 2013:23335590}, {DOI:Twigg 2013:10.1093/hmg/ddt015}" "" "" "luciferase assay shows reduced protein translation (0.45)" "In vitro (cloned)" "-" "" "0" "" "" "g.68829682T>C" "" "NA" "" "0000094338" "0" "90" "X" "68049516" "68049525" "delins" "0" "00006" "EFNB1_000046" "g.68049516_68049525delinsTTGGGCGCCC" "" "{PMID:Twigg 2013:23335590}, {DOI:Twigg 2013:10.1093/hmg/ddt015}" "" "c.[-104A>T;-95T>C]" "luciferase assay shows raised protein translation (1.6)" "In vitro (cloned)" "-" "" "0" "" "" "g.68829673_68829682delinsTTGGGCGCCC" "" "NA" "" "0000094339" "0" "10" "X" "68049525" "68049529" "delins" "0" "00006" "EFNB1_000045" "g.68049525_68049529delinsGGATA" "" "{PMID:Twigg 2013:23335590}, {DOI:Twigg 2013:10.1093/hmg/ddt015}" "" "" "luciferase assay shows normal protein translation (0.9)" "In vitro (cloned)" "-" "" "0" "" "" "g.68829682_68829686delinsGGATA" "" "NA" "" "0000255540" "0" "90" "X" "68049620" "68049620" "subst" "0" "01943" "EFNB1_000076" "g.68049620A>G" "" "" "" "EFNB1(NM_004429.4):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68829777A>G" "" "pathogenic" "" "0000275969" "0" "10" "X" "68049341" "68049341" "subst" "0" "01943" "EFNB1_000050" "g.68049341C>G" "" "" "" "EFNB1(NM_004429.4):c.-279C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68829498C>G" "" "benign" "" "0000275970" "0" "30" "X" "68049004" "68049004" "subst" "0" "01943" "EFNB1_000049" "g.68049004G>A" "" "" "" "EFNB1(NM_004429.4):c.-616G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68829161G>A" "" "likely benign" "" "0000275971" "0" "30" "X" "68048925" "68048925" "subst" "0" "01943" "EFNB1_000048" "g.68048925C>T" "" "" "" "EFNB1(NM_004429.4):c.-695C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68829082C>T" "" "likely benign" "" "0000275972" "0" "50" "X" "68049525" "68049525" "subst" "0" "01943" "EFNB1_000044" "g.68049525T>C" "" "" "" "EFNB1(NM_004429.4):c.-95T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68829682T>C" "" "VUS" "" "0000275973" "0" "10" "X" "68060503" "68060503" "subst" "0.0986758" "01943" "EFNB1_000063" "g.68060503C>T" "" "" "" "EFNB1(NM_004429.4):c.*6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68840660C>T" "" "benign" "" "0000275974" "0" "90" "X" "68058492" "68058492" "subst" "0" "01943" "EFNB1_000003" "g.68058492C>T" "" "" "" "EFNB1(NM_004429.4):c.161C>T (p.P54L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68838649C>T" "" "pathogenic" "" "0000275975" "0" "90" "X" "68058559" "68058559" "subst" "0" "01943" "EFNB1_000004" "g.68058559C>G" "" "" "" "EFNB1(NM_004429.4):c.228C>G (p.Y76*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68838716C>G" "" "pathogenic" "" "0000275976" "0" "90" "X" "68058597" "68058597" "subst" "0" "01943" "EFNB1_000006" "g.68058597G>A" "" "" "" "EFNB1(NM_004429.4):c.266G>A (p.C89Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68838754G>A" "" "pathogenic" "" "0000275977" "0" "90" "X" "68058603" "68058611" "delins" "0" "01943" "EFNB1_000054" "g.68058603_68058611delinsGACCAAC" "" "" "" "EFNB1(NM_004429.4):c.272_280delCAGTTCTCGinsGACCAAC (p.T91Rfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68838760_68838768delinsGACCAAC" "" "pathogenic" "" "0000275978" "0" "90" "X" "68049649" "68049649" "subst" "0" "01943" "EFNB1_000013" "g.68049649C>T" "" "" "" "EFNB1(NM_004429.4):c.30C>T (p.G10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68829806C>T" "" "pathogenic" "" "0000275980" "0" "90" "X" "68058663" "68058663" "subst" "0" "01943" "EFNB1_000056" "g.68058663C>A" "" "" "" "EFNB1(NM_004429.4):c.332C>A (p.T111N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68838820C>A" "" "pathogenic" "" "0000275981" "0" "90" "X" "68058691" "68058691" "subst" "0" "01943" "EFNB1_000016" "g.68058691C>A" "" "" "" "EFNB1(NM_004429.4):c.360C>A (p.N120K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68838848C>A" "" "pathogenic" "" "0000275983" "0" "90" "X" "68058740" "68058740" "subst" "0" "01943" "EFNB1_000058" "g.68058740G>T" "" "" "" "EFNB1(NM_004429.4):c.406+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68838897G>T" "" "pathogenic" "" "0000275984" "0" "90" "X" "68059492" "68059492" "subst" "0" "01943" "EFNB1_000059" "g.68059492G>A" "" "" "" "EFNB1(NM_004429.4):c.407-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68839649G>A" "" "pathogenic" "" "0000275985" "0" "90" "X" "68059551" "68059551" "subst" "0" "01943" "EFNB1_000017" "g.68059551G>A" "" "" "" "EFNB1(NM_004429.4):c.451G>A (p.G151S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68839708G>A" "" "pathogenic" "" "0000275986" "0" "90" "X" "68059592" "68059601" "del" "0" "01943" "EFNB1_000019" "g.68059592_68059601del" "" "" "" "EFNB1(NM_004429.4):c.492_499+2delTGGGCAAGGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68839749_68839758del" "" "pathogenic" "" "0000275987" "0" "10" "X" "68059812" "68059812" "subst" "0.00151461" "01943" "EFNB1_000060" "g.68059812C>T" "" "" "" "EFNB1(NM_004429.4):c.509C>T (p.A170V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68839969C>T" "" "benign" "" "0000275988" "0" "90" "X" "68059846" "68059846" "del" "0" "01943" "EFNB1_000018" "g.68059846del" "" "" "" "EFNB1(NM_004429.4):c.543delC (p.S182Afs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68840003del" "" "pathogenic" "" "0000275989" "0" "90" "X" "68060091" "68060092" "del" "0" "01943" "EFNB1_000039" "g.68060091_68060092del" "" "" "" "EFNB1(NM_004429.4):c.635_636delTG (p.V212Efs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68840248_68840249del" "" "pathogenic" "" "0000275990" "0" "30" "X" "68060324" "68060324" "subst" "3.41217E-5" "01943" "EFNB1_000062" "g.68060324G>A" "" "" "" "EFNB1(NM_004429.4):c.868G>A (p.G290R), EFNB1(NM_004429.5):c.868G>A (p.(Gly290Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68840481G>A" "" "likely benign" "" "0000275991" "0" "90" "X" "68049716" "68049716" "del" "0" "01943" "EFNB1_000052" "g.68049716del" "" "" "" "EFNB1(NM_004429.4):c.97delG (p.E33Sfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68829873del" "" "pathogenic" "" "0000334486" "0" "30" "X" "68059843" "68059843" "subst" "3.9332E-5" "01804" "EFNB1_000061" "g.68059843G>T" "" "" "" "EFNB1(NM_004429.4):c.540G>T (p.R180S, p.(Arg180Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68840000G>T" "" "likely benign" "" "0000352485" "0" "90" "X" "68058644" "68058644" "subst" "0" "02380" "EFNB1_000064" "g.68058644G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.68838801G>T" "" "pathogenic" "" "0000352486" "21" "50" "X" "68060327" "68060327" "subst" "0" "02380" "EFNB1_000065" "g.68060327G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68840484G>A" "" "VUS" "" "0000440029" "3" "70" "X" "68060276" "68060276" "subst" "0" "01164" "EFNB1_000066" "g.68060276C>T" "" "" "" "" "ACMG grading: PM2,PVS1; hemizygous" "Germline" "" "" "0" "" "" "g.68840433C>T" "" "likely pathogenic" "ACMG" "0000577073" "0" "30" "X" "68049750" "68049753" "del" "0" "02327" "EFNB1_000067" "g.68049750_68049753del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68829907_68829910del" "" "likely benign" "" "0000577075" "0" "90" "X" "68058527" "68058527" "subst" "0" "02325" "EFNB1_000027" "g.68058527C>T" "" "" "" "EFNB1(NM_004429.5):c.196C>T (p.(Arg66*), p.R66*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68838684C>T" "" "pathogenic" "" "0000577076" "0" "90" "X" "68058655" "68058655" "dup" "0" "01943" "EFNB1_000015" "g.68058655dup" "" "" "" "EFNB1(NM_004429.4):c.324dupA (p.R109Tfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68838812dup" "" "pathogenic" "" "0000577077" "0" "70" "X" "68058683" "68058683" "subst" "0" "02327" "EFNB1_000068" "g.68058683A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68838840A>C" "" "likely pathogenic" "" "0000577078" "0" "90" "X" "68058691" "68058691" "subst" "0" "01943" "EFNB1_000069" "g.68058691C>G" "" "" "" "EFNB1(NM_004429.4):c.360C>G (p.N120K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68838848C>G" "" "pathogenic" "" "0000577079" "0" "30" "X" "68059905" "68059905" "subst" "0" "01804" "EFNB1_000070" "g.68059905C>A" "" "" "" "EFNB1(NM_004429.4):c.602C>A (p.(Ser201Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68840062C>A" "" "likely benign" "" "0000577080" "0" "30" "X" "68060340" "68060340" "subst" "2.85011E-5" "01804" "EFNB1_000071" "g.68060340C>T" "" "" "" "EFNB1(NM_004429.4):c.884C>T (p.(Ala295Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68840497C>T" "" "likely benign" "" "0000577081" "0" "30" "X" "68060347" "68060347" "subst" "0.00104313" "02327" "EFNB1_000002" "g.68060347C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68840504C>T" "" "likely benign" "" "0000577083" "0" "10" "X" "68060503" "68060503" "subst" "0.0986758" "02327" "EFNB1_000063" "g.68060503C>T" "" "" "" "EFNB1(NM_004429.4):c.*6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68840660C>T" "" "benign" "" "0000619791" "0" "30" "X" "68059843" "68059843" "subst" "3.9332E-5" "01943" "EFNB1_000061" "g.68059843G>T" "" "" "" "EFNB1(NM_004429.4):c.540G>T (p.R180S, p.(Arg180Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68840000G>T" "" "likely benign" "" "0000619792" "0" "30" "X" "68060336" "68060336" "subst" "5.11864E-5" "01943" "EFNB1_000073" "g.68060336A>G" "" "" "" "EFNB1(NM_004429.4):c.880A>G (p.T294A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68840493A>G" "" "likely benign" "" "0000619793" "0" "70" "X" "68060495" "68060495" "dup" "0" "02327" "EFNB1_000074" "g.68060495dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68840652dup" "" "likely pathogenic" "" "0000659420" "0" "50" "X" "68049725" "68049725" "subst" "0" "01943" "EFNB1_000075" "g.68049725T>G" "" "" "" "EFNB1(NM_004429.4):c.106T>G (p.S36A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68829882T>G" "" "VUS" "" "0000682587" "0" "30" "X" "68059522" "68059522" "subst" "0.00017641" "01804" "EFNB1_000001" "g.68059522G>C" "" "" "" "EFNB1(NM_004429.4):c.422G>C (p.(Ser141Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984815" "0" "30" "X" "68060141" "68060141" "subst" "1.68231E-5" "01804" "EFNB1_000077" "g.68060141G>T" "" "" "" "EFNB1(NM_004429.5):c.685G>T (p.(Asp229Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984816" "0" "50" "X" "68060258" "68060258" "subst" "5.63704E-6" "01804" "EFNB1_000078" "g.68060258C>T" "" "" "" "EFNB1(NM_004429.4):c.802C>T (p.(Arg268Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006919" "0" "50" "X" "68060253" "68060253" "subst" "0" "01804" "EFNB1_000079" "g.68060253G>A" "" "" "" "EFNB1(NM_004429.4):c.797G>A (p.(Arg266His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006920" "0" "50" "X" "68060259" "68060259" "subst" "1.12741E-5" "01804" "EFNB1_000080" "g.68060259G>A" "" "" "" "EFNB1(NM_004429.4):c.803G>A (p.(Arg268Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027523" "0" "70" "X" "68059585" "68059585" "subst" "0" "02327" "EFNB1_000081" "g.68059585T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001044458" "0" "90" "X" "68058527" "68058527" "subst" "0" "01804" "EFNB1_000027" "g.68058527C>T" "" "" "" "EFNB1(NM_004429.5):c.196C>T (p.(Arg66*), p.R66*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001044459" "0" "50" "X" "68060447" "68060447" "subst" "1.72422E-5" "01804" "EFNB1_000082" "g.68060447G>T" "" "" "" "EFNB1(NM_004429.5):c.991G>T (p.(Val331Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057352" "0" "30" "X" "68060324" "68060324" "subst" "3.41217E-5" "01804" "EFNB1_000062" "g.68060324G>A" "" "" "" "EFNB1(NM_004429.4):c.868G>A (p.G290R), EFNB1(NM_004429.5):c.868G>A (p.(Gly290Arg))" "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 EFNB1 ## Count = 114 "{{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}}" "0000009136" "00001449" "50" "1771" "0" "1772" "0" "c.*730_*731del" "r.(?)" "p.(=)" "5" "0000021534" "00001449" "95" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "0000021535" "00001449" "95" "109" "0" "109" "0" "c.109T>G" "r.(?)" "p.(Trp37Gly)" "1" "0000021536" "00001449" "95" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "2" "0000021537" "00001449" "95" "228" "0" "228" "0" "c.228C>G" "r.(?)" "p.(Tyr76*)" "2" "0000021538" "00001449" "95" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Cys89Tyr)" "2" "0000021539" "00001449" "95" "324" "0" "324" "0" "c.324dup" "r.(?)" "p.(Arg109Thrfs*23)" "2" "0000021540" "00001449" "95" "360" "0" "360" "0" "c.360C>A" "r.(?)" "p.(Asn120Lys)" "2" "0000021541" "00001449" "95" "339" "0" "339" "0" "c.339G>C" "r.(?)" "p.(Lys113Asn)" "2" "0000021542" "00001449" "95" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Gly123Asp)" "2" "0000021543" "00001449" "95" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.(Ser136Leu)" "3" "0000021544" "00001449" "95" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Gly151Ser)" "3" "0000021545" "00001449" "95" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Gln166*)" "3" "0000021546" "00001449" "95" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Gln166*)" "3" "0000021547" "00001449" "95" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Ser182Alafs*31)" "4" "0000021548" "00001449" "95" "564" "0" "564" "0" "c.564dup" "r.(?)" "p.(Val189Cysfs*10)" "4" "0000021549" "00001449" "95" "233" "0" "233" "0" "c.233T>C" "r.(?)" "p.(Leu78Pro)" "2" "0000021550" "00001449" "95" "233" "0" "233" "0" "c.233T>C" "r.(?)" "p.(Leu78Pro)" "2" "0000021551" "00001449" "95" "196" "0" "196" "0" "c.196del" "r.(?)" "p.(Arg66Glufs*93)" "2" "0000021552" "00001449" "95" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Gln166*)" "3" "0000021553" "00001449" "95" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Gln166*)" "3" "0000021555" "00001449" "70" "-95" "0" "-95" "0" "c.-95T>C" "r.-95u>c" "p.(=)" "1" "0000021556" "00001449" "95" "30" "0" "30" "0" "c.30C>T" "r.spl?" "p.(Lys11Serfs*2)" "1" "0000021557" "00001449" "95" "492" "0" "499" "2" "c.492_499+2del" "r.spl" "p.?" "3_3i" "0000021559" "00001449" "90" "406" "375" "8047" "0" "c.406+375_*7006del" "r.?" "p.?" "2i_5_" "0000021567" "00001449" "55" "422" "0" "422" "0" "c.422G>C" "r.(?)" "p.(Ser141Thr)" "3" "0000021568" "00001449" "55" "891" "0" "891" "0" "c.891C>T" "r.(=)" "p.(=)" "5" "0000021643" "00001449" "95" "-4" "0" "4" "0" "c.-4_4del" "r.(?)" "p.0?" "1" "0000021644" "00001449" "95" "109" "0" "109" "0" "c.109T>G" "r.(?)" "p.(Trp37Gly)" "1" "0000021645" "00001449" "95" "110" "0" "110" "0" "c.110G>A" "r.(?)" "p.(Trp37*)" "1" "0000021646" "00001449" "95" "123" "0" "123" "0" "c.123C>G" "r.(?)" "p.(Asn41Lys)" "1" "0000021647" "00001449" "95" "151" "0" "153" "0" "c.151_153del" "r.(?)" "p.(Val51del)" "2" "0000021648" "00001449" "95" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "2" "0000021649" "00001449" "95" "170" "0" "171" "0" "c.170_171delinsTT" "r.(?)" "p.(Gly57Val)" "2" "0000021650" "00001449" "95" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Cys64Tyr)" "2" "0000021651" "00001449" "95" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66*)" "2" "0000021652" "00001449" "95" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66*)" "2" "0000021653" "00001449" "95" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66*)" "2" "0000021654" "00001449" "95" "196" "0" "196" "0" "c.196del" "r.(?)" "p.(Arg66Glufs*93)" "2" "0000021655" "00001449" "95" "220" "0" "220" "0" "c.220G>T" "r.(?)" "p.(Glu74*)" "2" "0000021656" "00001449" "95" "265" "0" "265" "0" "c.265T>C" "r.(?)" "p.(Cys89Arg)" "2" "0000021657" "00001449" "95" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Cys89Tyr)" "2" "0000021658" "00001449" "95" "355" "0" "355" "0" "c.355C>G" "r.(?)" "p.(Pro119Ala)" "2" "0000021659" "00001449" "95" "363" "0" "363" "0" "c.363C>A" "r.(?)" "p.(Tyr121*)" "2" "0000021660" "00001449" "95" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Gly123Asp)" "2" "0000021661" "00001449" "95" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Tyr133Serfs*26)" "2" "0000021662" "00001449" "95" "432" "0" "432" "0" "c.432del" "r.(?)" "p.(Leu145Trpfs*14)" "3" "0000021663" "00001449" "95" "445" "0" "445" "0" "c.445G>T" "r.(?)" "p.(Glu149*)" "3" "0000021664" "00001449" "95" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Gly151Ser)" "3" "0000021665" "00001449" "95" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Gly151Asp)" "3" "0000021666" "00001449" "95" "458" "0" "458" "0" "c.458G>C" "r.(?)" "p.(Cys153Ser)" "3" "0000021667" "00001449" "95" "587" "0" "587" "0" "c.587del" "r.(?)" "p.(Pro196Leufs*17)" "4" "0000021668" "00001449" "95" "635" "0" "636" "0" "c.635_636del" "r.(?)" "p.(Val212Glufs*19)" "5" "0000021669" "00001449" "95" "994" "0" "995" "0" "c.994_995insTC" "r.(?)" "p.(Gln332Leufs*61)" "5" "0000021670" "00001449" "95" "-780" "0" "499" "1" "c.(?_-780)_499+?del" "r.0?" "p.0?" "_1_3i" "0000021671" "00001449" "95" "-780" "0" "2551" "0" "c.(?_-780)_(*1510_?)del" "r.0?" "p.0?" "_1_5_" "0000021672" "00001449" "95" "-780" "0" "2551" "0" "c.(?_-780)_(*1510_?)del" "r.0?" "p.0?" "_1_5_" "0000021673" "00001449" "95" "407" "-1" "407" "-1" "c.407-1G>A" "r.spl?" "p.?" "2i" "0000021674" "00001449" "95" "500" "-2" "500" "-2" "c.500-2A>G" "r.spl" "p.?" "3i" "0000021680" "00001449" "95" "129" "-1" "2551" "1" "c.129-?_*1510+?del" "r.?" "p.0?" "1i_5_" "0000021681" "00001449" "75" "332" "0" "332" "0" "c.332C>T" "r.(?)" "p.(Thr111Ile)" "2" "0000021682" "00001449" "75" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "2" "0000040252" "00001449" "70" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Gly151Asp)" "3" "0000094337" "00001449" "90" "-95" "0" "-95" "0" "c.-95T>C" "r.-95u>c" "p.(=)" "1" "0000094338" "00001449" "30" "-104" "0" "-95" "0" "c.-104_-95delinsTTGGGCGCCC" "r.-104_-95delinsuugggcgccc" "p.(=)" "1" "0000094339" "00001449" "10" "-95" "0" "-91" "0" "c.-95_-91delinsGGATA" "r.-95_-91delinsggaua" "p.(=)" "1" "0000255540" "00001449" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000275969" "00001449" "10" "-279" "0" "-279" "0" "c.-279C>G" "r.(?)" "p.(=)" "" "0000275970" "00001449" "30" "-616" "0" "-616" "0" "c.-616G>A" "r.(?)" "p.(=)" "" "0000275971" "00001449" "30" "-695" "0" "-695" "0" "c.-695C>T" "r.(?)" "p.(=)" "" "0000275972" "00001449" "50" "-95" "0" "-95" "0" "c.-95T>C" "r.(?)" "p.(=)" "" "0000275973" "00001449" "10" "1047" "0" "1047" "0" "c.*6C>T" "r.(=)" "p.(=)" "" "0000275974" "00001449" "90" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "" "0000275975" "00001449" "90" "228" "0" "228" "0" "c.228C>G" "r.(?)" "p.(Tyr76Ter)" "" "0000275976" "00001449" "90" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Cys89Tyr)" "" "0000275977" "00001449" "90" "272" "0" "280" "0" "c.272_280delinsGACCAAC" "r.(?)" "p.(Thr91ArgfsTer12)" "" "0000275978" "00001449" "90" "30" "0" "30" "0" "c.30C>T" "r.(?)" "p.(Gly10=)" "" "0000275980" "00001449" "90" "332" "0" "332" "0" "c.332C>A" "r.(?)" "p.(Thr111Asn)" "" "0000275981" "00001449" "90" "360" "0" "360" "0" "c.360C>A" "r.(?)" "p.(Asn120Lys)" "" "0000275983" "00001449" "90" "406" "3" "406" "3" "c.406+3G>T" "r.spl?" "p.?" "" "0000275984" "00001449" "90" "407" "-15" "407" "-15" "c.407-15G>A" "r.(=)" "p.(=)" "" "0000275985" "00001449" "90" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Gly151Ser)" "" "0000275986" "00001449" "90" "492" "0" "499" "2" "c.492_499+2del" "r.spl?" "p.?" "" "0000275987" "00001449" "10" "509" "0" "509" "0" "c.509C>T" "r.(?)" "p.(Ala170Val)" "" "0000275988" "00001449" "90" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Ser182AlafsTer31)" "" "0000275989" "00001449" "90" "635" "0" "636" "0" "c.635_636del" "r.(?)" "p.(Val212GlufsTer19)" "" "0000275990" "00001449" "30" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "" "0000275991" "00001449" "90" "97" "0" "97" "0" "c.97del" "r.(?)" "p.(Glu33SerfsTer13)" "" "0000334486" "00001449" "30" "540" "0" "540" "0" "c.540G>T" "r.(?)" "p.(Arg180Ser)" "" "0000352485" "00001449" "90" "313" "0" "313" "0" "c.313G>T" "r.(?)" "p.(Glu105*)" "" "0000352486" "00001449" "50" "871" "0" "871" "0" "c.871G>A" "r.(?)" "p.(Gly291Ser)" "" "0000440029" "00001449" "70" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.Gln274*" "" "0000577073" "00001449" "30" "128" "3" "128" "6" "c.128+3_128+6del" "r.spl?" "p.?" "" "0000577075" "00001449" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66Ter)" "" "0000577076" "00001449" "90" "324" "0" "324" "0" "c.324dup" "r.(?)" "p.(Arg109ThrfsTer23)" "" "0000577077" "00001449" "70" "352" "0" "352" "0" "c.352A>C" "r.(?)" "p.(Ser118Arg)" "" "0000577078" "00001449" "90" "360" "0" "360" "0" "c.360C>G" "r.(?)" "p.(Asn120Lys)" "" "0000577079" "00001449" "30" "602" "0" "602" "0" "c.602C>A" "r.(?)" "p.(Ser201Tyr)" "" "0000577080" "00001449" "30" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Ala295Val)" "" "0000577081" "00001449" "30" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Thr297=)" "" "0000577083" "00001449" "10" "1047" "0" "1047" "0" "c.*6C>T" "r.(=)" "p.(=)" "" "0000619791" "00001449" "30" "540" "0" "540" "0" "c.540G>T" "r.(?)" "p.(Arg180Ser)" "" "0000619792" "00001449" "30" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Thr294Ala)" "" "0000619793" "00001449" "70" "1039" "0" "1039" "0" "c.1039dup" "r.(?)" "p.(Ter347LeuextTer39)" "" "0000659420" "00001449" "50" "106" "0" "106" "0" "c.106T>G" "r.(?)" "p.(Ser36Ala)" "" "0000682587" "00001449" "30" "422" "0" "422" "0" "c.422G>C" "r.(?)" "p.(Ser141Thr)" "" "0000984815" "00001449" "30" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Asp229Tyr)" "" "0000984816" "00001449" "50" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Trp)" "" "0001006919" "00001449" "50" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Arg266His)" "" "0001006920" "00001449" "50" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Arg268Gln)" "" "0001027523" "00001449" "70" "485" "0" "485" "0" "c.485T>G" "r.(?)" "p.(Met162Arg)" "" "0001044458" "00001449" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66Ter)" "" "0001044459" "00001449" "50" "991" "0" "991" "0" "c.991G>T" "r.(?)" "p.(Val331Phe)" "" "0001057352" "00001449" "30" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{variantid}}" "0000000210" "0000009136" "0000003008" "0000021534" "0000003009" "0000021535" "0000003010" "0000021536" "0000003011" "0000021537" "0000003012" "0000021538" "0000003013" "0000021539" "0000003014" "0000021540" "0000003015" "0000021541" "0000003016" "0000021542" "0000003017" "0000021543" "0000003018" "0000021544" "0000003019" "0000021545" "0000003020" "0000021546" "0000003021" "0000021547" "0000003022" "0000021548" "0000003023" "0000021549" "0000003024" "0000021550" "0000003025" "0000021551" "0000003026" "0000021552" "0000003027" "0000021553" "0000003028" "0000021555" "0000003029" "0000021556" "0000003030" "0000021557" "0000003031" "0000021559" "0000003040" "0000021567" "0000003041" "0000021568" "0000003113" "0000021643" "0000003114" "0000021644" "0000003115" "0000021645" "0000003116" "0000021646" "0000003117" "0000021647" "0000003118" "0000021648" "0000003119" "0000021649" "0000003120" "0000021650" "0000003121" "0000021651" "0000003122" "0000021652" "0000003123" "0000021653" "0000003124" "0000021654" "0000003125" "0000021655" "0000003126" "0000021656" "0000003127" "0000021657" "0000003128" "0000021658" "0000003129" "0000021659" "0000003130" "0000021660" "0000003131" "0000021661" "0000003132" "0000021662" "0000003133" "0000021663" "0000003134" "0000021664" "0000003135" "0000021665" "0000003136" "0000021666" "0000003137" "0000021667" "0000003138" "0000021668" "0000003139" "0000021669" "0000003140" "0000021670" "0000003141" "0000021671" "0000003142" "0000021672" "0000003143" "0000021673" "0000003144" "0000021674" "0000003150" "0000021680" "0000003151" "0000021681" "0000003152" "0000021682" "0000019805" "0000040252" "0000153386" "0000352485" "0000153387" "0000352486" "0000209810" "0000440029"