### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = B9D1) # 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}}" "B9D1" "B9 protein domain 1" "17" "p11.2" "unknown" "NG_031885.2" "UD_134753551316" "{PMID:Hopp 2011:21493627}" "https://www.LOVD.nl/B9D1" "" "1" "24123" "27077" "614144" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.\r\nWe gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "" "g" "http://databases.lovd.nl/shared/refseq/B9D1_NM_015681.3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2021-08-02 11:58:11" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025627" "B9D1" "transcript variant 2" "006" "NM_015681.3" "" "NP_056496.1" "" "" "" "-164" "764" "615" "19266046" "19246483" "03840" "2021-07-29 11:59:37" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00071" "MKS9" "Meckel syndrome, type 9 (MKS-9)" "AR" "614209" "" "" "" "00015" "2012-11-09 13:56:55" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" "05578" "MKS" "Meckel syndrome (MKS, Meckel-Gruber syndrome)" "" "" "" "" "" "00006" "2019-02-22 22:26:27" "00006" "2021-12-10 21:51:32" "05925" "JBTS27" "Joubert syndrome, type 27 (JBTS27)" "AR" "617120" "" "" "" "00006" "2021-04-29 14:35:26" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "B9D1" "00071" "B9D1" "00139" "B9D1" "05109" "B9D1" "05925" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00291657" "" "" "" "195" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304570" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00363570" "" "" "" "1" "" "00000" "{PMID:Srour 2015:26477546}" "" "M" "" "Canada" "" "0" "" "" "French-Canadian" "Fam581Pat1639,581" "00372143" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW202-3" "00372144" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW232-3" "00377688" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 75" "M" "" "United States" "" "0" "" "" "" "400" "00377695" "" "" "" "1" "" "00006" "{PMID:Hopp 2011:21493627}" "2-generation family, 1 affected fetus" "" "" "United States" "" "0" "" "" "" "M456" "00388083" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "400" "00418741" "" "" "" "1" "" "00000" "{PMID:Romani 2014:24886560}" "" "M" "" "" "" "0" "" "" "" "COR363" "00418742" "" "" "" "1" "" "00000" "{PMID:Romani 2014:24886560}" "" "F" "" "" "" "0" "" "" "" "COR346" "00427964" "" "" "" "1" "" "00006" "{PMID:Katiyar 2020:32622957}, {PMID:Bournazos 2022:34906502}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Australia" "" "0" "" "" "" ";A107" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00291657" "00198" "00304570" "00198" "00363570" "05109" "00372143" "05109" "00372144" "05109" "00377688" "04214" "00377695" "05578" "00388083" "04214" "00418741" "05109" "00418742" "05109" "00427964" "05109" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00071, 00139, 00198, 01157, 04214, 05109, 05578, 05925 ## Count = 10 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000258920" "05109" "00363570" "00000" "Familial, autosomal recessive" "22y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267464" "05109" "00372143" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267465" "05109" "00372144" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272840" "04214" "00377688" "00000" "Familial, autosomal recessive" "" "oculomotor apraxia, nystagmus" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000281677" "04214" "00388083" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000310036" "05109" "00418741" "00000" "Familial, autosomal recessive" "9y" "central nervous system: hypotonia/ataxia: +; breathing abnormalities: -; developmental. delay: +; intellectual disability (variable severity): +; oculomotor abnormalities: ocular: +; retinopathy: -; coloboma: -; renal: -; hepatic: -; other features: polydactyly: -; orofacial features: -; dysmorphisms: +; neuroimaging: molar tooth sign: +; other central nervous system defects: -" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000310037" "05109" "00418742" "00000" "Familial, autosomal recessive" "7y" "central nervous system: hypotonia/ataxia: +; breathing abnormalities: -; developmental. delay: +; intellectual disability (variable severity): -; oculomotor abnormalities: ocular: +; retinopathy: -; coloboma: -; renal: -; hepatic: -; other features: polydactyly: -; orofacial features: -; dysmorphisms: +; neuroimaging: molar tooth sign: +; other central nervous system defects: -" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000318910" "05109" "00427964" "00006" "Familial, autosomal recessive" "24y" "global delay, late walking, poor sense of balance, required educational support (primary and high school); cerebellar signs with head tilt , rotational nystagmus; dysarthria, hypometric saccades; brain MRI molar tooth sign" "" "" "" "" "" "" "" "" "JBTS27" "Joubert syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000292825" "00291657" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305699" "00304570" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000364798" "00363570" "1" "00000" "00006" "2021-04-29 14:27:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000373372" "00372143" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373373" "00372144" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000378892" "00377688" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378899" "00377695" "1" "00006" "00006" "2021-08-02 12:16:14" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "candidate gene panel" "0000389322" "00388083" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000420037" "00418741" "1" "00000" "03840" "2022-10-05 09:48:43" "03840" "2022-10-05 09:50:49" "SEQ-NG;SEQ" "DNA" "" "large screening of ciliopathy genes in 260 JS patients" "0000420038" "00418742" "1" "00000" "03840" "2022-10-05 09:48:43" "03840" "2022-10-05 09:50:49" "SEQ-NG;SEQ" "DNA" "" "large screening of ciliopathy genes in 260 JS patients" "0000429377" "00427964" "1" "00006" "00006" "2022-12-19 10:39:07" "" "" "SEQ;SEQ-NG;SEQ-NG-RNA" "DNA;RNA" "whole blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000364798" "B9D1" "0000373372" "B9D1" "0000373373" "B9D1" "0000378892" "B9D1" "0000378899" "B9D1" "0000389322" "B9D1" "0000420037" "B9D1" "0000420038" "B9D1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 56 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000005676" "3" "50" "17" "19249660" "19249660" "subst" "0" "00037" "B9D1_000001" "g.19249660C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.19346347C>A" "" "VUS" "" "0000013648" "3" "50" "17" "19249660" "19249660" "subst" "0" "00037" "B9D1_000001" "g.19249660C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.19346347C>A" "" "VUS" "" "0000016957" "21" "99" "17" "19251095" "19251095" "subst" "2.0349E-5" "00015" "B9D1_000003" "g.19251095A>G" "" "{PMID:Hopp 2011:21493627}" "" "c.505+2T>C" "" "Germline" "yes" "" "0" "" "" "g.19347782A>G" "" "pathogenic (recessive)" "" "0000016958" "0" "99" "17" "18761492" "20305504" "del" "0" "00015" "B9D1_000000" "g.(?_18761492)_(20305504_?)del" "" "{PMID:Hopp 2011:21493627}" "" "" "1.713 Mb de novo deletion completely deleting B9D1 and 18 other genes" "De novo" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000254261" "0" "30" "17" "19261246" "19261246" "subst" "4.46871E-5" "01943" "B9D1_000008" "g.19261246A>G" "" "" "" "B9D1(NM_001243473.1):c.210T>C (p.S70=), B9D1(NM_015681.3):c.151T>C (p.(Ser51Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19357933A>G" "" "likely benign" "" "0000259223" "0" "10" "17" "19247075" "19247075" "subst" "0.602287" "02325" "B9D1_000005" "g.19247075G>A" "" "" "" "B9D1(NM_001243473.1):c.559C>T (p.H187Y), B9D1(NM_001321215.3):c.500C>T (p.P167L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19343762G>A" "" "benign" "" "0000261368" "0" "10" "17" "19241062" "19241062" "subst" "0.00287126" "02326" "B9D1_000010" "g.19241062C>G" "" "" "" "B9D1(NM_001243475.1):c.400-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19337749C>G" "" "benign" "" "0000263497" "0" "30" "17" "19250617" "19250617" "subst" "0.000105582" "01943" "B9D1_000006" "g.19250617G>T" "" "" "" "B9D1(NM_001243473.1):c.428C>A (p.S143Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19347304G>T" "" "likely benign" "" "0000263498" "0" "10" "17" "19247075" "19247075" "subst" "0.602287" "01943" "B9D1_000005" "g.19247075G>A" "" "" "" "B9D1(NM_001243473.1):c.559C>T (p.H187Y), B9D1(NM_001321215.3):c.500C>T (p.P167L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19343762G>A" "" "benign" "" "0000263499" "0" "10" "17" "19265952" "19265952" "subst" "0.0285193" "01943" "B9D1_000009" "g.19265952C>T" "" "" "" "B9D1(NM_001243473.1):c.83G>A (p.R28K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19362639C>T" "" "benign" "" "0000325289" "0" "50" "17" "19285370" "19285370" "subst" "0.000334774" "01804" "MAPK7_000001" "g.19285370C>G" "" "" "" "MAPK7(NM_002749.3):c.1754C>G (p.(Ser585Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19382057C>G" "" "VUS" "" "0000349072" "0" "50" "17" "19261246" "19261246" "subst" "4.46871E-5" "02327" "B9D1_000008" "g.19261246A>G" "" "" "" "B9D1(NM_001243473.1):c.210T>C (p.S70=), B9D1(NM_015681.3):c.151T>C (p.(Ser51Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19357933A>G" "" "VUS" "" "0000560638" "0" "50" "17" "19261246" "19261246" "subst" "4.46871E-5" "01804" "B9D1_000008" "g.19261246A>G" "" "" "" "B9D1(NM_001243473.1):c.210T>C (p.S70=), B9D1(NM_015681.3):c.151T>C (p.(Ser51Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19357933A>G" "" "VUS" "" "0000616423" "0" "30" "17" "19246679" "19246679" "subst" "0.000881297" "01943" "B9D1_000011" "g.19246679T>A" "" "" "" "B9D1(NM_015681.3):c.568A>T (p.T190S), B9D1(NM_015681.5):c.568A>T (p.T190S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19343366T>A" "" "likely benign" "" "0000616424" "0" "50" "17" "19246679" "19246679" "subst" "0.000881297" "02327" "B9D1_000011" "g.19246679T>A" "" "" "" "B9D1(NM_015681.3):c.568A>T (p.T190S), B9D1(NM_015681.5):c.568A>T (p.T190S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19343366T>A" "" "VUS" "" "0000616425" "0" "50" "17" "19246826" "19246826" "subst" "0.000438421" "02327" "B9D1_000013" "g.19246826C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19343513C>A" "" "VUS" "" "0000616426" "0" "50" "17" "19251098" "19251098" "subst" "1.22088E-5" "01943" "B9D1_000014" "g.19251098G>A" "" "" "" "B9D1(NM_001321218.1):c.340C>T (p.R114W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19347785G>A" "" "VUS" "" "0000616428" "0" "50" "17" "19251136" "19251136" "subst" "0" "02325" "B9D1_000015" "g.19251136C>G" "" "" "" "B9D1(NM_001321218.2):c.302G>C (p.R101P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19347823C>G" "" "VUS" "" "0000616429" "0" "50" "17" "19282235" "19282235" "subst" "0.000580046" "01804" "B9D1_000017" "g.19282235G>A" "" "" "" "MAPK7(NM_002749.3):c.22G>A (p.(Glu8Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19378922G>A" "" "VUS" "" "0000616430" "0" "50" "17" "19282240" "19282240" "subst" "0.000583805" "01804" "B9D1_000018" "g.19282240C>A" "" "" "" "MAPK7(NM_002749.3):c.27C>A (p.(Asp9Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19378927C>A" "" "VUS" "" "0000623635" "0" "50" "17" "19263689" "19263689" "subst" "0" "01943" "B9D1_000016" "g.19263689C>T" "" "" "" "B9D1(NM_001243475.1):c.3G>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19360376C>T" "" "VUS" "" "0000649514" "1" "30" "17" "19265952" "19265952" "subst" "0.0285193" "03575" "B9D1_000009" "g.19265952C>T" "195/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "195 heterozygous; {DB:CLININrs2296978}" "Germline" "" "rs2296978" "0" "" "" "g.19362639C>T" "" "likely benign" "" "0000658057" "0" "30" "17" "19247021" "19247021" "subst" "0.000324103" "01943" "B9D1_000019" "g.19247021A>T" "" "" "" "B9D1(NM_001243473.1):c.613T>A (p.C205S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19343708A>T" "" "likely benign" "" "0000669387" "3" "30" "17" "19265952" "19265952" "subst" "0.0285193" "03575" "B9D1_000009" "g.19265952C>T" "3/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs2296978}" "Germline" "" "rs2296978" "0" "" "" "g.19362639C>T" "" "likely benign" "" "0000692286" "0" "30" "17" "19265917" "19265917" "subst" "6.65764E-5" "01943" "B9D1_000020" "g.19265917G>A" "" "" "" "B9D1(NM_001243473.1):c.118C>T (p.P40S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726235" "0" "50" "17" "19246940" "19246940" "subst" "5.49438E-6" "01943" "B9D1_000021" "g.19246940G>A" "" "" "" "B9D1(NM_001243473.1):c.694C>T (p.H232Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726236" "0" "50" "17" "19247154" "19247154" "subst" "2.84514E-5" "01943" "B9D1_000022" "g.19247154G>A" "" "" "" "B9D1(NM_001321218.1):c.421C>T (p.R141W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000765705" "21" "90" "17" "19247141" "19247141" "subst" "1.21895E-5" "00000" "B9D1_000023" "g.19247141G>A" "" "{PMID:Srour 2015:26477546}" "" "NM_001243473.1:c.493C>T (Gln165*)" "" "Germline" "" "" "0" "" "" "g.19343828G>A" "" "pathogenic (recessive)" "" "0000765740" "0" "90" "17" "19261246" "19261246" "subst" "4.46871E-5" "00000" "B9D1_000008" "g.19261246A>G" "" "{PMID:Srour 2015:26477546}" "" "NM_015681.3:c.151T>C (Ser51Pro)" "" "Germline/De novo (untested)" "" "rs546359789" "0" "" "" "" "" "pathogenic (recessive)" "" "0000783352" "3" "90" "17" "19251153" "19251153" "subst" "8.13101E-6" "00000" "B9D1_000025" "g.19251153G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015681.3:c.285C>A" "" "Germline" "" "" "0" "" "" "g.19347840G>T" "" "pathogenic" "" "0000783353" "1" "90" "17" "19247109" "19247109" "subst" "4.06425E-6" "00000" "B9D1_000024" "g.19247109G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015681.3:c.466C>T" "" "Germline" "" "" "0" "" "" "g.19343796G>A" "" "pathogenic" "" "0000783614" "2" "90" "17" "19263670" "19263670" "subst" "1.22224E-5" "00000" "B9D1_000026" "g.19263670T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015681.3:c.95A>G" "" "Germline" "" "" "0" "" "" "g.19360357T>C" "" "pathogenic" "" "0000791798" "0" "70" "17" "19247109" "19247109" "subst" "4.06425E-6" "00000" "B9D1_000024" "g.19247109G>A" "" "{PMID:Brooks 2018:30055837}" "" "" "" "Germline" "?" "" "0" "" "" "g.19343796G>A" "RCV000201564.1" "likely pathogenic" "" "0000791876" "0" "70" "17" "19263670" "19263670" "subst" "1.22224E-5" "00000" "B9D1_000026" "g.19263670T>C" "" "{PMID:Brooks 2018:30055837}" "" "" "" "Germline" "?" "" "0" "" "" "g.19360357T>C" "" "likely pathogenic" "" "0000818281" "0" "90" "17" "19263670" "19263670" "subst" "1.22224E-5" "00000" "B9D1_000026" "g.19263670T>C" "" "{PMID:Summers 2017:28497568}" "" "" "" "Germline" "" "" "0" "" "" "g.19360357T>C" "" "pathogenic (recessive)" "" "0000818282" "0" "90" "17" "19247109" "19247109" "subst" "4.06425E-6" "00000" "B9D1_000024" "g.19247109G>A" "" "{PMID:Summers 2017:28497568}" "" "" "" "Germline" "" "" "0" "" "" "g.19343796G>A" "" "pathogenic (recessive)" "" "0000854782" "0" "50" "17" "19247049" "19247049" "subst" "0" "01943" "EPN2_000003" "g.19247049C>T" "" "" "" "B9D1(NM_001321215.1):c.526G>A (p.E176K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865111" "0" "30" "17" "19251117" "19251117" "subst" "8.13187E-6" "01804" "EPN2_000004" "g.19251117G>A" "" "" "" "B9D1(NM_001243473.1):c.380C>T (p.(Thr127Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865112" "0" "50" "17" "19261225" "19261225" "subst" "4.06147E-6" "01804" "EPN2_000005" "g.19261225G>A" "" "" "" "B9D1(NM_001243473.1):c.231C>T (p.(Ala77=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000880271" "3" "70" "17" "19247108" "19247108" "subst" "8.12916E-6" "00000" "B9D1_000030" "g.19247108C>T" "" "{PMID:Romani 2014:24886560}" "" "B9D1 c.G467A, p.156Q" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.19343795C>T" "" "likely pathogenic" "" "0000880272" "0" "70" "17" "19263670" "19263670" "subst" "1.22224E-5" "00000" "B9D1_000026" "g.19263670T>C" "" "{PMID:Romani 2014:24886560}" "" "B9D1 c.A95G, p.Y32C" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.19360357T>C" "" "likely pathogenic" "" "0000880274" "0" "70" "17" "19246728" "19246730" "del" "0" "00000" "B9D1_000029" "g.19246728_19246730del" "" "{PMID:Romani 2014:24886560}" "" "B9D1 c.520_522delGTG, p.V174del" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.19343415_19343417del" "" "likely pathogenic" "" "0000893390" "0" "30" "17" "19246679" "19246679" "subst" "0.000881297" "02326" "B9D1_000011" "g.19246679T>A" "" "" "" "B9D1(NM_015681.3):c.568A>T (p.T190S), B9D1(NM_015681.5):c.568A>T (p.T190S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893391" "0" "30" "17" "19261160" "19261160" "subst" "0.000678178" "02326" "EPN2_000006" "g.19261160G>C" "" "" "" "B9D1(NM_001243473.2):c.296C>G (p.P99R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908846" "1" "90" "17" "19251097" "19251097" "subst" "2.84921E-5" "00006" "B9D1_000031" "g.19251097C>T" "" "{PMID:Katiyar 2020:32622957}, {PMID:Bournazos 2022:34906502}" "" "" "" "Germline" "" "" "0" "" "" "g.19347784C>T" "" "likely pathogenic (recessive)" "" "0000908847" "2" "90" "17" "19246718" "19246718" "subst" "0" "00006" "B9D1_000032" "g.19246718C>G" "" "{PMID:Katiyar 2020:32622957}, {PMID:Bournazos 2022:34906502}" "" "" "" "Germline" "" "" "0" "" "" "g.19343405C>G" "" "pathogenic (recessive)" "" "0000914752" "0" "30" "17" "19251212" "19251212" "subst" "5.72433E-5" "02326" "EPN2_000007" "g.19251212G>T" "" "" "" "B9D1(NM_001321218.2):c.245-19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926409" "0" "10" "17" "19261216" "19261216" "subst" "0.0024856" "02326" "EPN2_000008" "g.19261216G>A" "" "" "" "B9D1(NM_001321218.2):c.181C>T (p.R61W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930705" "0" "50" "17" "19250624" "19250624" "subst" "4.06085E-6" "02325" "EPN2_000009" "g.19250624A>G" "" "" "" "B9D1(NM_015681.6):c.362T>C (p.M121T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930706" "0" "50" "17" "19265863" "19265863" "subst" "0" "02325" "EPN2_000010" "g.19265863C>A" "" "" "" "B9D1(NM_015681.6):c.20G>T (p.S7I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982360" "0" "50" "17" "19244624" "19244624" "subst" "0" "01804" "EPN2_000011" "g.19244624C>T" "" "" "" "B9D1(NM_001321217.2):c.488G>A (p.(Arg163Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982361" "0" "30" "17" "19265850" "19265850" "subst" "0.000139031" "02326" "EPN2_000012" "g.19265850G>A" "" "" "" "B9D1(NM_001321218.2):c.33C>T (p.L11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003031" "0" "50" "17" "19282394" "19282394" "subst" "3.25425E-5" "01804" "EPN2_000013" "g.19282394A>C" "" "" "" "MAPK7(NM_002749.3):c.181A>C (p.(Ile61Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041684" "0" "50" "17" "19241000" "19241000" "subst" "0" "01804" "EPN2_000014" "g.19241000A>G" "" "" "" "B9D1(NM_001321219.2):c.466T>C (p.(*156Argext*23))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041685" "0" "50" "17" "19246759" "19246759" "subst" "4.0814E-6" "01804" "EPN2_000015" "g.19246759G>A" "" "" "" "B9D1(NM_015681.5):c.488C>T (p.(Ser163Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041686" "0" "50" "17" "19246763" "19246763" "subst" "4.08493E-6" "01804" "EPN2_000016" "g.19246763G>A" "" "" "" "B9D1(NM_015681.5):c.484C>T (p.(Arg162Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes B9D1 ## Count = 56 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000005676" "00025627" "50" "404" "922" "404" "922" "c.404+922G>T" "r.(=)" "p.(=)" "" "0000013648" "00025627" "50" "404" "922" "404" "922" "c.404+922G>T" "r.(=)" "p.(=)" "" "0000016957" "00025627" "99" "341" "2" "341" "2" "c.341+2T>C" "r.245_341del" "p.Trp82Cysfs*45" "" "0000016958" "00025627" "90" "0" "0" "0" "0" "c.-164_*149{0}" "r.0?" "p.0?" "_1_7_" "0000254261" "00025627" "30" "151" "0" "151" "0" "c.151T>C" "r.(?)" "p.(Ser51Pro)" "" "0000259223" "00025627" "10" "472" "28" "472" "28" "c.472+28C>T" "r.(=)" "p.(=)" "" "0000261368" "00025627" "10" "6185" "0" "6185" "0" "c.*5570G>C" "r.(=)" "p.(=)" "" "0000263497" "00025627" "30" "369" "0" "369" "0" "c.369C>A" "r.(?)" "p.(Val123=)" "" "0000263498" "00025627" "10" "472" "28" "472" "28" "c.472+28C>T" "r.(=)" "p.(=)" "" "0000263499" "00025627" "10" "-70" "0" "-70" "0" "c.-70G>A" "r.(?)" "p.(=)" "" "0000325289" "00025627" "50" "-19488" "0" "-19488" "0" "c.-19488G>C" "r.(?)" "p.(=)" "" "0000349072" "00025627" "50" "151" "0" "151" "0" "c.151T>C" "r.(?)" "p.(Ser51Pro)" "" "0000560638" "00025627" "50" "151" "0" "151" "0" "c.151T>C" "r.(?)" "p.(Ser51Pro)" "" "0000616423" "00025627" "30" "568" "0" "568" "0" "c.568A>T" "r.(?)" "p.(Thr190Ser)" "" "0000616424" "00025627" "50" "568" "0" "568" "0" "c.568A>T" "r.(?)" "p.(Thr190Ser)" "" "0000616425" "00025627" "50" "473" "-52" "473" "-52" "c.473-52G>T" "r.(=)" "p.(=)" "" "0000616426" "00025627" "50" "340" "0" "340" "0" "c.340C>T" "r.(?)" "p.(Arg114Trp)" "" "0000616428" "00025627" "50" "302" "0" "302" "0" "c.302G>C" "r.(?)" "p.(Arg101Pro)" "" "0000616429" "00025627" "50" "-16353" "0" "-16353" "0" "c.-16353C>T" "r.(?)" "p.(=)" "" "0000616430" "00025627" "50" "-16358" "0" "-16358" "0" "c.-16358G>T" "r.(?)" "p.(=)" "" "0000623635" "00025627" "50" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "0000649514" "00025627" "30" "-70" "0" "-70" "0" "c.-70G>A" "r.(=)" "p.(=)" "" "0000658057" "00025627" "30" "472" "82" "472" "82" "c.472+82T>A" "r.(=)" "p.(=)" "" "0000669387" "00025627" "30" "-70" "0" "-70" "0" "c.-70G>A" "r.(=)" "p.(=)" "" "0000692286" "00025627" "30" "-35" "0" "-35" "0" "c.-35C>T" "r.(?)" "p.(=)" "" "0000726235" "00025627" "50" "472" "163" "472" "163" "c.472+163C>T" "r.(=)" "p.(=)" "" "0000726236" "00025627" "50" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141Trp)" "" "0000765705" "00025627" "90" "434" "0" "434" "0" "c.434C>T" "r.(?)" "p.(Thr145Ile)" "" "0000765740" "00025627" "90" "151" "0" "151" "0" "c.151T>C" "r.(?)" "p.(Ser51Pro)" "" "0000783352" "00025627" "90" "285" "0" "285" "0" "c.285C>A" "r.(?)" "p.(Phe95Leu)" "" "0000783353" "00025627" "90" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Trp)" "" "0000783614" "00025627" "90" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Tyr32Cys)" "" "0000791798" "00025627" "70" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Trp)" "" "0000791876" "00025627" "70" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Tyr32Cys)" "" "0000818281" "00025627" "90" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Tyr32Cys)" "3" "0000818282" "00025627" "90" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Trp)" "7" "0000854782" "00025627" "50" "472" "54" "472" "54" "c.472+54G>A" "r.(=)" "p.(=)" "" "0000865111" "00025627" "30" "321" "0" "321" "0" "c.321C>T" "r.(?)" "p.(His107=)" "" "0000865112" "00025627" "50" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Gln58*)" "" "0000880271" "00025627" "70" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Arg156Gln)" "" "0000880272" "00025627" "70" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Tyr32Cys)" "" "0000880274" "00025627" "70" "520" "0" "522" "0" "c.520_522delGTG" "r.(?)" "p.(Val174del)" "" "0000893390" "00025627" "30" "568" "0" "568" "0" "c.568A>T" "r.(?)" "p.(Thr190Ser)" "" "0000893391" "00025627" "30" "237" "0" "237" "0" "c.237C>G" "r.(?)" "p.(Pro79=)" "" "0000908846" "00025627" "90" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114Gln)" "" "0000908847" "00025627" "90" "529" "0" "529" "0" "c.529G>C" "r.529g>c" "p.Asp177His" "" "0000914752" "00025627" "30" "245" "-19" "245" "-19" "c.245-19C>A" "r.(=)" "p.(=)" "" "0000926409" "00025627" "10" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61Trp)" "" "0000930705" "00025627" "50" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.(Met121Thr)" "" "0000930706" "00025627" "50" "20" "0" "20" "0" "c.20G>T" "r.(?)" "p.(Ser7Ile)" "" "0000982360" "00025627" "50" "2623" "0" "2623" "0" "c.*2008G>A" "r.(=)" "p.(=)" "" "0000982361" "00025627" "30" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(=)" "" "0001003031" "00025627" "50" "-16512" "0" "-16512" "0" "c.-16512T>G" "r.(?)" "p.(=)" "" "0001041684" "00025627" "50" "6247" "0" "6247" "0" "c.*5632T>C" "r.(=)" "p.(=)" "" "0001041685" "00025627" "50" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Ser163Phe)" "" "0001041686" "00025627" "50" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005676" "0000000210" "0000013648" "0000292825" "0000649514" "0000305699" "0000669387" "0000364798" "0000765705" "0000364798" "0000765740" "0000373372" "0000783352" "0000373373" "0000783353" "0000373373" "0000783614" "0000378892" "0000791798" "0000378892" "0000791876" "0000378899" "0000016957" "0000378899" "0000016958" "0000389322" "0000818281" "0000389322" "0000818282" "0000420037" "0000880271" "0000420038" "0000880272" "0000420038" "0000880274" "0000429377" "0000908846" "0000429377" "0000908847"