### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BHLHA9) # 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}}" "BHLHA9" "basic helix-loop-helix family, member a9" "17" "p13.3" "unknown" "NG_042055.1" "UD_136085789592" "" "https://www.LOVD.nl/BHLHA9" "" "1" "35126" "727857" "615416" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/BHLHA9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-05-24 08:50:03" "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}}" "00003382" "BHLHA9" "basic helix-loop-helix family, member a9" "001" "NM_001164405.1" "" "NP_001157877.1" "" "" "" "1" "708" "708" "1173858" "1174565" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04384" "MSSD" "syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD)" "AR" "609432" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05600" "SHFM" "split-hand/foot malformation (SHFM)" "" "" "" "" "" "00006" "2019-05-24 15:21:22" "" "" "05601" "CCSPD" "camptosynpolydactyly, complex (CCSPD)" "AR" "607539" "" "autosomal recessive" "" "00006" "2019-05-24 15:51:10" "00006" "2021-12-10 21:51:32" "05602" "SHFLD3" "split-hand/foot malformation with long bone deficiency, type 3 (SHFLD-3, Gollop-Wolfgang complex (GWC))" "" "612576" "" "autosomal recessive" "" "00006" "2019-05-24 15:53:26" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "BHLHA9" "04384" "BHLHA9" "05601" "BHLHA9" "05602" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00165041" "" "" "" "3" "" "01867" "{PMID:Ullah 2019:30107244}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "SINDHI" "bd" "00229606" "" "" "" "2" "" "03251" "{PMID:Khan 2019:31152918}, {DOI:Khan 2019:10.1016/j.ejmg.2019.103688}" "5-generation family, 2 affected brothers" "M" "yes" "Pakistan" "" "0" "" "" "" "BHLHA9" "00408117" "" "" "" "8" "" "00006" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "4-generation family, 8 affected (3F, 5M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Punjab" "Fam1PatIV-7" "00408118" "" "" "00408117" "1" "" "00006" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "M" "yes" "Pakistan" "" "0" "" "" "Punjab" "Fam1PatIV-5" "00408119" "" "" "00408117" "1" "" "00006" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "F" "yes" "Pakistan" "" "0" "" "" "Punjab" "Fam1PatIV-1" "00408120" "" "" "00408117" "1" "" "00006" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "M" "yes" "Pakistan" "" "0" "" "" "Punjab" "Fam1PatIV-2" "00408121" "" "" "" "3" "" "00006" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "5-generation family, 8 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "Fam2PatV-3" "00408122" "" "" "00408121" "1" "" "00006" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "M" "yes" "Turkey" "" "0" "" "" "" "Fam2PatV-1" "00408123" "" "" "00408121" "1" "" "00006" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "M" "yes" "Turkey" "" "0" "" "" "" "Fam2PatIV-4" "00408124" "" "" "" "2" "" "00006" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives2" "M" "yes" "Turkey" "" "0" "" "" "" "Fam3PatIV-2" "00408125" "" "" "00408124" "1" "" "00006" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "sister" "F" "yes" "Turkey" "" "0" "" "" "" "Fam3PatIV-4" "00408126" "" "" "" "1" "" "00006" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Italy" "" "0" "" "" "" "Fam4PatIV-1" "00408127" "" "" "" "1" "" "00006" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "Sindh" "Fam5PatII-1" "00408128" "" "" "" "2" "" "00006" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives2" "M" "yes" "Pakistan" "" "0" "" "" "KPK" "Fam6PatIII-4" "00408129" "" "" "" "1" "" "00006" "{PMID:Phadke 2016:27041388}" "2-generation family, 2 affected (one fetus), unaffected heterozygous carrier parents" "F" "yes" "India" "" "0" "" "" "" "patient" "00408131" "" "" "" "5" "" "00006" "{PMID:Khan 2017:29263794}" "2-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "" "00408148" "" "" "" "1" "" "00006" "{PMID:Diaz-Gonzalez 2020:31912643}" "" "F" "" "Spain" "" "0" "" "" "" "patient" "00408149" "" "" "" "2" "" "00006" "{PMID:Sedighzadeh 2021:34272776}" "4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "family" "00408160" "" "" "" "2" "" "00006" "{PMID:Paththinige 2019:31200655}" "2-generation family, affected mother/daughter" "F" "no" "Sri Lanka" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00165041" "04384" "00229606" "00198" "00408117" "04384" "00408118" "04384" "00408119" "04384" "00408120" "04384" "00408121" "04384" "00408122" "04384" "00408123" "04384" "00408124" "04384" "00408125" "04384" "00408126" "04384" "00408127" "04384" "00408128" "04384" "00408129" "05601" "00408131" "04384" "00408148" "04384" "00408149" "04384" "00408160" "05600" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04384, 05600, 05601, 05602 ## Count = 19 "{{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}}" "0000129914" "04384" "00165041" "01867" "Familial, autosomal recessive" "" "syndactyly, polydactyly,\r\nphalangeal reduction and hypoplastic nails,camptodactyly with hypoplastic nails, bilateral mesoaxial synostotic syndactyly, and\r\npostaxial polydactyly in the right hand" "" "" "" "" "" "" "" "" "Mesoaxial synostotic syndactyly" "Mesoaxial synostotic syndactyly" "" "0000300244" "00198" "00229606" "00006" "Familial, autosomal recessive" "" "see paper; ..., mesoaxial synostotic syndactyly, postaxial polydactyly" "" "" "" "" "" "" "" "" "" "mesoaxial synostotic syndactyly associated with postaxial polydactyly" "" "0000300247" "04384" "00408117" "00006" "Familial, autosomal recessive" "" "mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes)" "" "" "" "" "" "" "" "" "MSSD" "mesoaxial synostotic syndactyly" "" "0000300248" "04384" "00408118" "00006" "Familial, autosomal recessive" "" "mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes)" "" "" "" "" "" "" "" "" "MSSD" "mesoaxial synostotic syndactyly" "" "0000300249" "04384" "00408119" "00006" "Familial, autosomal recessive" "" "mesoaxial reduction finger; short index finger; clinodactyly; no preaxial webbing toes; no mesoaxial webbing (2/3 toes)" "" "" "" "" "" "" "" "" "MSSD" "mesoaxial synostotic syndactyly" "" "0000300250" "04384" "00408120" "00006" "Familial, autosomal recessive" "" "mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes)" "" "" "" "" "" "" "" "" "MSSD" "mesoaxial synostotic syndactyly" "" "0000300251" "04384" "00408121" "00006" "Familial, autosomal recessive" "" "mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes)" "" "" "" "" "" "" "" "" "MSSD" "mesoaxial synostotic syndactyly" "" "0000300252" "04384" "00408122" "00006" "Familial, autosomal recessive" "" "mesoaxial reduction finger; short index finger; no clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes)" "" "" "" "" "" "" "" "" "MSSD" "mesoaxial synostotic syndactyly" "" "0000300253" "04384" "00408123" "00006" "Familial, autosomal recessive" "" "mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes)" "" "" "" "" "" "" "" "" "MSSD" "mesoaxial synostotic syndactyly" "" "0000300254" "04384" "00408124" "00006" "Familial, autosomal recessive" "" "mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes)" "" "" "" "" "" "" "" "" "MSSD" "mesoaxial synostotic syndactyly" "" "0000300255" "04384" "00408125" "00006" "Familial, autosomal recessive" "" "mesoaxial reduction finger; short index finger; clinodactyly; no preaxial webbing toes; mesoaxial webbing (2/3 toes)" "" "" "" "" "" "" "" "" "MSSD" "mesoaxial synostotic syndactyly" "" "0000300256" "04384" "00408126" "00006" "Familial, autosomal recessive" "" "mesoaxial reduction finger; short index finger; clinodactyly; no preaxial webbing toes; mesoaxial webbing (2/3 toes)" "" "" "" "" "" "" "" "" "MSSD" "mesoaxial synostotic syndactyly" "" "0000300257" "04384" "00408127" "00006" "Familial, autosomal recessive" "" "mesoaxial reduction finger; short index finger; clinodactyly; no preaxial webbing toes; no mesoaxial webbing (2/3 toes)" "" "" "" "" "" "" "" "" "MSSD" "mesoaxial synostotic syndactyly" "" "0000300258" "04384" "00408128" "00006" "Familial, autosomal recessive" "" "mesoaxial reduction finger; short index finger; clinodactyly; no preaxial webbing toes; mesoaxial webbing (2/3 toes)" "" "" "" "" "" "" "" "" "MSSD" "mesoaxial synostotic syndactyly" "" "0000300259" "05601" "00408129" "00006" "Familial, autosomal recessive" "" "see paper; ..., polydactyly with two digits arising from dorsum hands, syndactyly, camptodactyly some fingers, dysplastic nails, syndactyly toes, no other malformation, normal growth, normal development" "" "" "" "" "" "" "" "" "CCSPD" "complex hand and foot malformation syndrome" "" "0000300260" "04384" "00408131" "00006" "Familial, autosomal recessive" "" "see paper; ..., mesoaxial synostotic syndactyly with phalangeal reduction" "" "" "" "" "" "" "" "" "MSSD" "mesoaxial synostotic syndactyly" "" "0000300277" "04384" "00408148" "00006" "Familial, autosomal recessive" "" "see paper; ..., four digits both hands due to bilateral complete cutaneous and osseous syndactyly third and fourth fingers; bilateral fifth finger clinodactyly; bilateral shortening and broadening first toe, broad second toe, bilateral clinodactyly fourth toe; partial cutaneous syndactyly second and third toes; hypoplastic nails fingers and toes; no other malformations, no reduced functionality, no skeletal abnormalities in parents." "" "" "" "" "" "" "" "" "MSSD" "mesoaxial synostotic syndactyly" "" "0000300278" "04384" "00408149" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MSSD" "mesoaxial synostotic syndactyly" "" "0000300289" "05600" "00408160" "00006" "Unknown" "" "see paper; ..., split hand/foot malformation, long bone deficiency" "" "" "" "" "" "" "" "" "" "split-hand/foot malformation" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165911" "00165041" "1" "01867" "01867" "2018-06-21 06:44:33" "" "" "SEQ" "DNA" "" "" "0000230698" "00229606" "1" "03251" "03251" "2019-04-05 09:57:49" "" "" "PCR" "DNA" "DNA" "" "0000409372" "00408117" "1" "00006" "00006" "2022-04-14 12:05:46" "" "" "SEQ" "DNA" "" "" "0000409373" "00408118" "1" "00006" "00006" "2022-04-14 12:05:46" "" "" "SEQ" "DNA" "" "" "0000409374" "00408119" "1" "00006" "00006" "2022-04-14 12:05:46" "" "" "SEQ" "DNA" "" "" "0000409375" "00408120" "1" "00006" "00006" "2022-04-14 12:05:46" "" "" "SEQ" "DNA" "" "" "0000409376" "00408121" "1" "00006" "00006" "2022-04-14 12:05:46" "" "" "SEQ" "DNA" "" "" "0000409377" "00408122" "1" "00006" "00006" "2022-04-14 12:05:46" "" "" "SEQ" "DNA" "" "" "0000409378" "00408123" "1" "00006" "00006" "2022-04-14 12:05:46" "" "" "SEQ" "DNA" "" "" "0000409379" "00408124" "1" "00006" "00006" "2022-04-14 12:05:46" "" "" "SEQ" "DNA" "" "" "0000409380" "00408125" "1" "00006" "00006" "2022-04-14 12:05:46" "" "" "SEQ" "DNA" "" "" "0000409381" "00408126" "1" "00006" "00006" "2022-04-14 12:05:46" "" "" "SEQ" "DNA" "" "" "0000409382" "00408127" "1" "00006" "00006" "2022-04-14 12:05:46" "" "" "SEQ" "DNA" "" "" "0000409383" "00408128" "1" "00006" "00006" "2022-04-14 12:05:46" "" "" "SEQ" "DNA" "" "" "0000409384" "00408129" "1" "00006" "00006" "2022-04-14 12:41:10" "" "" "SEQ" "DNA" "" "WES" "0000409386" "00408131" "1" "00006" "00006" "2022-04-14 12:53:27" "" "" "SEQ" "DNA" "" "" "0000409403" "00408148" "1" "00006" "00006" "2022-04-14 19:15:27" "" "" "SEQ" "DNA" "" "candidate gene panel" "0000409404" "00408149" "1" "00006" "00006" "2022-04-14 19:24:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000409415" "00408160" "1" "00006" "00006" "2022-04-14 20:43:20" "" "" "PCRq" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000165911" "BHLHA9" "0000230698" "BHLHB9" "0000409372" "BHLHA9" "0000409373" "BHLHA9" "0000409374" "BHLHA9" "0000409375" "BHLHA9" "0000409376" "BHLHA9" "0000409377" "BHLHA9" "0000409378" "BHLHA9" "0000409379" "BHLHA9" "0000409380" "BHLHA9" "0000409381" "BHLHA9" "0000409382" "BHLHA9" "0000409383" "BHLHA9" "0000409386" "BHLHA9" "0000409403" "BHLHA9" "0000409415" "BHLHA9" ## 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 = 29 "{{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}}" "0000325079" "0" "30" "17" "1173901" "1173901" "subst" "0" "01804" "BHLHA9_000001" "g.1173901G>A" "" "" "" "BHLHA9(NM_001164405.1):c.44G>A (p.(Gly15Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1270607G>A" "" "likely benign" "" "0000369709" "3" "70" "17" "1174109" "1174127" "del" "0" "01867" "BHLHA9_000002" "g.1174109_1174127delinsGCA" "" "{PMID:Ullah 2019:30107244}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1270815_1270833delinsGCA" "" "likely pathogenic" "" "0000472287" "3" "70" "17" "1174266" "1174266" "del" "0" "03251" "BHLHA9_000003" "g.1174266del" "" "{PMID:Khan 2019:31152918}, {DOI:Khan 2019:10.1016/j.ejmg.2019.103688}" "" "409-409delC" "" "Germline" "yes" "" "0" "" "" "g.1270972del" "" "pathogenic (recessive)" "" "0000560277" "0" "50" "17" "1174221" "1174221" "subst" "0" "01804" "BHLHA9_000005" "g.1174221C>G" "" "" "" "BHLHA9(NM_001164405.1):c.364C>G (p.(Arg122Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1270927C>G" "" "VUS" "" "0000560278" "0" "30" "17" "1174332" "1174332" "subst" "0" "01804" "BHLHA9_000006" "g.1174332A>G" "" "" "" "BHLHA9(NM_001164405.1):c.475A>G (p.(Ser159Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1271038A>G" "" "likely benign" "" "0000616339" "0" "30" "17" "1173973" "1173973" "subst" "0" "01804" "BHLHA9_000007" "g.1173973C>A" "" "" "" "BHLHA9(NM_001164405.1):c.116C>A (p.(Ala39Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1270679C>A" "" "likely benign" "" "0000616340" "0" "50" "17" "1174416" "1174416" "subst" "0" "01804" "BHLHA9_000008" "g.1174416C>G" "" "" "" "BHLHA9(NM_001164405.1):c.559C>G (p.(Arg187Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1271122C>G" "" "VUS" "" "0000846528" "3" "90" "17" "1174068" "1174068" "subst" "0" "00006" "BHLHA9_000015" "g.1174068A>G" "" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1270774A>G" "" "pathogenic (recessive)" "" "0000846529" "3" "90" "17" "1174068" "1174068" "subst" "0" "00006" "BHLHA9_000015" "g.1174068A>G" "" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1270774A>G" "" "pathogenic (recessive)" "" "0000846530" "3" "90" "17" "1174068" "1174068" "subst" "0" "00006" "BHLHA9_000015" "g.1174068A>G" "" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1270774A>G" "" "pathogenic (recessive)" "" "0000846531" "3" "90" "17" "1174068" "1174068" "subst" "0" "00006" "BHLHA9_000015" "g.1174068A>G" "" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1270774A>G" "" "pathogenic (recessive)" "" "0000846532" "3" "90" "17" "1174075" "1174075" "subst" "0" "00006" "BHLHA9_000016" "g.1174075G>C" "" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1270781G>C" "" "pathogenic (recessive)" "" "0000846533" "3" "90" "17" "1174075" "1174075" "subst" "0" "00006" "BHLHA9_000016" "g.1174075G>C" "" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1270781G>C" "" "pathogenic (recessive)" "" "0000846534" "3" "90" "17" "1174075" "1174075" "subst" "0" "00006" "BHLHA9_000016" "g.1174075G>C" "" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1270781G>C" "" "pathogenic (recessive)" "" "0000846535" "3" "90" "17" "1174075" "1174075" "subst" "0" "00006" "BHLHA9_000016" "g.1174075G>C" "" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1270781G>C" "" "pathogenic (recessive)" "" "0000846536" "3" "90" "17" "1174075" "1174075" "subst" "0" "00006" "BHLHA9_000016" "g.1174075G>C" "" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1270781G>C" "" "pathogenic (recessive)" "" "0000846537" "3" "90" "17" "1174081" "1174081" "subst" "0" "00006" "BHLHA9_000017" "g.1174081G>T" "" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1270787G>T" "" "pathogenic (recessive)" "" "0000846538" "3" "90" "17" "1174075" "1174075" "subst" "0" "00006" "BHLHA9_000016" "g.1174075G>C" "" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1270781G>C" "" "pathogenic (recessive)" "" "0000846539" "3" "90" "17" "1174068" "1174068" "subst" "0" "00006" "BHLHA9_000015" "g.1174068A>G" "" "{PMID:Malik 2014:25466284}, {DOI:Malik 2014: 10.1016/j.ajhg.2014.10.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1270774A>G" "" "pathogenic (recessive)" "" "0000846540" "3" "70" "17" "1174077" "1174078" "delins" "0" "00006" "BHLHA9_000009" "g.1174077_1174078delinsTT" "" "{PMID:Phadke 2016:27041388}" "" "" "" "Germline" "" "" "0" "" "" "g.1270783_1270784delinsTT" "" "likely pathogenic (recessive)" "" "0000846542" "3" "70" "17" "1174168" "1174168" "subst" "7.68521E-5" "00006" "BHLHA9_000010" "g.1174168T>C" "" "{PMID:Khan 2017:29263794}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1270874T>C" "" "likely pathogenic (recessive)" "" "0000846566" "11" "90" "17" "1174083" "1174083" "subst" "0" "00006" "BHLHA9_000011" "g.1174083A>T" "" "{PMID:Diaz-Gonzalez 2020:31912643}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000846567" "21" "70" "17" "1174126" "1174126" "subst" "0" "00006" "BHLHA9_000012" "g.1174126G>C" "" "{PMID:Diaz-Gonzalez 2020:31912643}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000846568" "3" "90" "17" "1173931" "1173931" "del" "0" "00006" "BHLHA9_000013" "g.1173931del" "" "{PMID:Sedighzadeh 2021:34272776}" "" "74_74delG" "" "Germline" "yes" "" "0" "" "" "g.1270637del" "" "likely pathogenic (recessive)" "" "0000846581" "21" "70" "17" "1173858" "1174565" "dup" "0" "00006" "BHLHA9_000014" "g.(?_1173858)_(1174565_?)dup" "" "{PMID:Paththinige 2019:31200655}" "" "1_708dup" "duplication BHLHA9 gene" "Germline" "" "" "0" "" "" "g.(?_1270564)_(1271271_?)dup" "" "likely pathogenic (dominant)" "" "0000893346" "0" "30" "17" "1174488" "1174488" "subst" "0" "01804" "BHLHA9_000018" "g.1174488G>T" "" "" "" "BHLHA9(NM_001164405.1):c.631G>T (p.(Ala211Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002910" "0" "30" "17" "1173940" "1173940" "subst" "0" "01804" "BHLHA9_000019" "g.1173940C>T" "" "" "" "BHLHA9(NM_001164405.1):c.83C>T (p.(Pro28Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002911" "0" "50" "17" "1173981" "1173981" "del" "0" "01804" "BHLHA9_000020" "g.1173981del" "" "" "" "BHLHA9(NM_001164405.1):c.124delG (p.(Ala42fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055764" "0" "50" "17" "1174315" "1174315" "dup" "0" "01804" "BHLHA9_000021" "g.1174315dup" "" "" "" "BHLHA9(NM_001164405.2):c.458dup (p.(Pro154Alafs*119))" "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 BHLHA9 ## Count = 29 "{{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}}" "0000325079" "00003382" "30" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Gly15Glu)" "" "0000369709" "00003382" "70" "252" "0" "270" "0" "c.252_270delinsGCA" "r.(?)" "p.(Phe85Glnfs*108)" "" "0000472287" "00003382" "70" "409" "0" "409" "0" "c.409del" "r.(?)" "p.(His137Thrfs*61)" "1" "0000560277" "00003382" "50" "364" "0" "364" "0" "c.364C>G" "r.(?)" "p.(Arg122Gly)" "" "0000560278" "00003382" "30" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Ser159Gly)" "" "0000616339" "00003382" "30" "116" "0" "116" "0" "c.116C>A" "r.(?)" "p.(Ala39Glu)" "" "0000616340" "00003382" "50" "559" "0" "559" "0" "c.559C>G" "r.(?)" "p.(Arg187Gly)" "" "0000846528" "00003382" "90" "211" "0" "211" "0" "c.211A>G" "r.(?)" "p.(Asn71Asp)" "" "0000846529" "00003382" "90" "211" "0" "211" "0" "c.211A>G" "r.(?)" "p.(Asn71Asp)" "" "0000846530" "00003382" "90" "211" "0" "211" "0" "c.211A>G" "r.(?)" "p.(Asn71Asp)" "" "0000846531" "00003382" "90" "211" "0" "211" "0" "c.211A>G" "r.(?)" "p.(Asn71Asp)" "" "0000846532" "00003382" "90" "218" "0" "218" "0" "c.218G>C" "r.(?)" "p.(Arg73Pro)" "" "0000846533" "00003382" "90" "218" "0" "218" "0" "c.218G>C" "r.(?)" "p.(Arg73Pro)" "" "0000846534" "00003382" "90" "218" "0" "218" "0" "c.218G>C" "r.(?)" "p.(Arg73Pro)" "" "0000846535" "00003382" "90" "218" "0" "218" "0" "c.218G>C" "r.(?)" "p.(Arg73Pro)" "" "0000846536" "00003382" "90" "218" "0" "218" "0" "c.218G>C" "r.(?)" "p.(Arg73Pro)" "" "0000846537" "00003382" "90" "224" "0" "224" "0" "c.224G>T" "r.(?)" "p.(Arg75Leu)" "" "0000846538" "00003382" "90" "218" "0" "218" "0" "c.218G>C" "r.(?)" "p.(Arg73Pro)" "" "0000846539" "00003382" "90" "211" "0" "211" "0" "c.211A>G" "r.(?)" "p.(Asn71Asp)" "" "0000846540" "00003382" "70" "220" "0" "221" "0" "c.220_221delinsTT" "r.(?)" "p.(Glu74Leu)" "" "0000846542" "00003382" "70" "311" "0" "311" "0" "c.311T>C" "r.(?)" "p.(Ile104Thr)" "" "0000846566" "00003382" "90" "226" "0" "226" "0" "c.226A>T" "r.(?)" "p.(Lys76*)" "" "0000846567" "00003382" "70" "269" "0" "269" "0" "c.269G>C" "r.(?)" "p.(Arg90Pro)" "" "0000846568" "00003382" "90" "74" "0" "74" "0" "c.74del" "r.(?)" "p.(Gly25Alafs*55)" "" "0000846581" "00003382" "70" "0" "0" "0" "0" "c.1_708{2}" "r.(?)" "p.(=)" "_1_" "0000893346" "00003382" "30" "631" "0" "631" "0" "c.631G>T" "r.(?)" "p.(Ala211Ser)" "" "0001002910" "00003382" "30" "83" "0" "83" "0" "c.83C>T" "r.(?)" "p.(Pro28Leu)" "" "0001002911" "00003382" "50" "124" "0" "124" "0" "c.124del" "r.(?)" "p.(Ala42Leufs*38)" "" "0001055764" "00003382" "50" "458" "0" "458" "0" "c.458dup" "r.(?)" "p.(Pro154Alafs*?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000165911" "0000369709" "0000230698" "0000472287" "0000409372" "0000846528" "0000409373" "0000846529" "0000409374" "0000846530" "0000409375" "0000846531" "0000409376" "0000846532" "0000409377" "0000846533" "0000409378" "0000846534" "0000409379" "0000846535" "0000409380" "0000846536" "0000409381" "0000846537" "0000409382" "0000846538" "0000409383" "0000846539" "0000409384" "0000846540" "0000409386" "0000846542" "0000409403" "0000846566" "0000409403" "0000846567" "0000409404" "0000846568" "0000409415" "0000846581"