### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DHX9) # 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}}" "DHX9" "DEAH (Asp-Glu-Ala-His) box polypeptide 9" "1" "q25" "unknown" "NG_029930.2" "UD_132119155549" "" "https://www.LOVD.nl/DHX9" "" "1" "2750" "1660" "603115" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/DHX9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-08-05 19:50:09" "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}}" "00006402" "DHX9" "transcript variant 1" "002" "NM_001357.4" "" "NP_001348.2" "" "" "" "-175" "4361" "3813" "182808439" "182857117" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DHX9" "05113" "DHX9" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00435608" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat1" "00435609" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat2" "00435610" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat3" "00435611" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat4" "00435612" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat5" "00435613" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00435614" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "Pat7" "00435615" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat8" "00435616" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat9" "00435617" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat10" "00435618" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat11" "00435619" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Poland" "" "0" "" "" "" "Pat12" "00435620" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat13" "00435621" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "Pat14" "00435622" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat15" "00435623" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "Pat16" "00435624" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "2-generation family, 1 affected" "M" "yes" "" "" "0" "" "" "" "Pat17" "00435625" "" "" "" "1" "" "00006" "{PMID:Iossifov 2014:25363768}, {PMID:Calame 2023:37467750}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "patient" "00435626" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "family, 2 affected sibs" "" "" "United States" "" "0" "" "" "" "M42-1" "00435627" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "" "" "" "United States" "" "0" "" "" "" "BAB4646" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00435608" "05611" "00435609" "05611" "00435610" "05611" "00435611" "05611" "00435612" "05611" "00435613" "05611" "00435614" "05611" "00435615" "05611" "00435616" "05611" "00435617" "05611" "00435618" "05611" "00435619" "05611" "00435620" "05611" "00435621" "05611" "00435622" "05113" "00435623" "05113" "00435624" "05113" "00435625" "00198" "00435626" "00198" "00435627" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05113, 05611 ## 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}}" "0000325793" "05611" "00435608" "00006" "Isolated (sporadic)" "16y" "developmental delay; severe intellectual disability; microcephaly (-2.14); MRI brain abnormal; no neuropsychiatric disorders; seizures; drug-resistant epilepsy; axial hypotonia; appendicular hypertonia; increased reflexes; no ataxia; axonal neuropathy; no dysmorphic features; no heart disease; short stature; failure to thrive; recurrent infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325794" "05611" "00435609" "00006" "Isolated (sporadic)" "16y" "developmental delay; borderline intellectual disability; no microcephaly; MRI brain normal; neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; axial hypotonia; no appendicular hypertonia; normal reflexes; no ataxia; dysmorphic features; heart disease; no short statur; no failure to thrive; no recurrent infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325795" "05611" "00435610" "00006" "Isolated (sporadic)" "5y" "developmental delay; severe intellectual disability; microcephaly (-2.49); MRI brain abnormal; neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; axial hypotonia; no appendicular hypertonia; increased reflexes; ataxia; dysmorphic features; heart disease; no short statur; no failure to thrive; no recurrent infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325796" "05611" "00435611" "00006" "Isolated (sporadic)" "3y6m" "developmental delay; no microcephaly; MRI brain normal; neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; no dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325797" "05611" "00435612" "00006" "Isolated (sporadic)" "19y" "developmental delay; no intellectual disability; no microcephaly; MRI brain normal; neuropsychiatric disorders; seizures; drug-resistant epilepsy; axial hypotonia; no appendicular hypertonia; normal reflexes; no ataxia; no dysmorphic features; heart disease; no short statur; no failure to thrive; no recurrent infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325798" "05611" "00435613" "00006" "Isolated (sporadic)" "8y" "developmental delay; severe intellectual disability; microcephaly (-3.16) ; MRI brain abnormal; no neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; axial hypotonia; appendicular hypertonia; increased reflexes; no ataxia; dysmorphic features; no heart disease; short stature; failure to thrive; recurrent infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325799" "05611" "00435614" "00006" "Unknown" "7y" "developmental delay; mild intellectual disability; no microcephaly; MRI brain normal; neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325800" "05611" "00435615" "00006" "Isolated (sporadic)" "15y" "developmental delay; mild intellectual disability; no microcephaly; MRI brain normal; neuropsychiatric disorders; seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325801" "05611" "00435616" "00006" "Isolated (sporadic)" "11y" "developmental delay; mild intellectual disability; no microcephaly; MRI brain normal; neuropsychiatric disorders; seizures; drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325802" "05611" "00435617" "00006" "Isolated (sporadic)" "23y" "developmental delay; no intellectual disability; no microcephaly; no neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; no axonal neuropathy; no dysmorphic features; heart disease; no short statur; no failure to thrive; no recurrent infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325803" "05611" "00435618" "00006" "Isolated (sporadic)" "3y" "developmental delay; no microcephaly; MRI brain normal; neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; no dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325804" "05611" "00435619" "00006" "Isolated (sporadic)" "12y" "developmental delay; severe intellectual disability; microcephaly (-3.22) ; MRI brain abnormal; no neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; axial hypotonia; no appendicular hypertonia; normal reflexes; ataxia; dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325805" "05611" "00435620" "00006" "Isolated (sporadic)" "8y" "developmental delay; moderate intellectual disability; microcephaly (-2.3); MRI brain abnormal; no neuropsychiatric disorders; seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; dysmorphic features; no heart disease; short stature; no failure to thrive; no recurrent infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325806" "05611" "00435621" "00006" "Unknown" "6m" "developmental delay; microcephaly (-3.39); no neuropsychiatric disorders; seizures; no drug-resistant epilepsy; axial hypotonia; no appendicular hypertonia; normal reflexes; no ataxia; no dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325807" "05113" "00435622" "00006" "Isolated (sporadic)" "45y" "no developmental delay; no intellectual disability; no microcephaly; no neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; diminished reflexes; ataxia; axonal neuropathy; no dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000325808" "05113" "00435623" "00006" "Unknown" "54y" "no developmental delay; no intellectual disability; no microcephaly; no neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; diminished reflexes; no ataxia; axonal neuropathy; no dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000325809" "05113" "00435624" "00006" "Unknown" "58y" "no developmental delay; no intellectual disability; no microcephaly; no neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; diminished reflexes; no ataxia; axonal neuropathy; no dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000325810" "00198" "00435626" "00006" "Unknown" "" "mitochondrial disease, encephalopathy, stroke-like episodes, drug-resistant epilepsy" "" "" "" "" "" "" "" "" "" "mitochondrial disease" "" "0000325811" "05611" "00435627" "00006" "Unknown" "" "severe developmental delay/intellectual disability,\r\nprimary immunodeficiency" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000437089" "00435608" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437090" "00435609" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437091" "00435610" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437092" "00435611" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437093" "00435612" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437094" "00435613" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437095" "00435614" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437096" "00435615" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437097" "00435616" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437098" "00435617" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437099" "00435618" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437100" "00435619" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437101" "00435620" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437102" "00435621" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437103" "00435622" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437104" "00435623" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437105" "00435624" "1" "00006" "00006" "2023-08-06 10:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437106" "00435625" "1" "00006" "00006" "2023-08-06 10:58:15" "" "" "SEQ-NG" "DNA" "" "" "0000437107" "00435626" "1" "00006" "00006" "2023-08-06 11:03:50" "" "" "SEQ-NG" "DNA" "" "" "0000437108" "00435627" "1" "00006" "00006" "2023-08-06 11:12:17" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 24 "{{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}}" "0000321164" "0" "50" "1" "182847316" "182847316" "subst" "0" "01804" "DHX9_000001" "g.182847316C>A" "" "" "" "DHX9(NM_001357.4):c.2351+8C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.182878181C>A" "" "VUS" "" "0000321165" "0" "50" "1" "182852676" "182852676" "subst" "0" "01804" "DHX9_000002" "g.182852676G>A" "" "" "" "DHX9(NM_001357.4):c.3166G>A (p.(Ala1056Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.182883541G>A" "" "VUS" "" "0000931854" "0" "70" "1" "182822498" "182822498" "subst" "0" "00006" "DHX9_000006" "g.182822498G>A" "" "{PMID:Calame 2023:37467750}" "" "" "" "De novo" "" "" "0" "" "" "g.182853363G>A" "" "likely pathogenic (dominant)" "" "0000931855" "0" "70" "1" "182845191" "182845191" "subst" "0" "00006" "DHX9_000011" "g.182845191T>G" "" "{PMID:Calame 2023:37467750}" "" "" "" "De novo" "" "" "0" "" "" "g.182876056T>G" "" "likely pathogenic (dominant)" "" "0000931856" "0" "70" "1" "182856253" "182856253" "subst" "0" "00006" "DHX9_000019" "g.182856253G>C" "" "{PMID:Calame 2023:37467750}" "" "" "" "De novo" "" "" "0" "" "" "g.182887118G>C" "" "likely pathogenic (dominant)" "" "0000931857" "0" "70" "1" "182825663" "182825663" "dup" "0" "00006" "DHX9_000007" "g.182825663dup" "" "{PMID:Calame 2023:37467750}" "" "627-4dupA" "" "De novo" "" "" "0" "" "" "g.182856528dup" "" "likely pathogenic (dominant)" "" "0000931858" "0" "70" "1" "182835663" "182835663" "subst" "4.06187E-6" "00006" "DHX9_000010" "g.182835663G>A" "" "{PMID:Calame 2023:37467750}" "" "" "" "De novo" "" "" "0" "" "" "g.182866528G>A" "" "likely pathogenic (dominant)" "" "0000931859" "0" "70" "1" "182856244" "182856244" "subst" "0" "00006" "DHX9_000018" "g.182856244A>G" "" "{PMID:Calame 2023:37467750}" "" "" "" "De novo" "" "" "0" "" "" "g.182887109A>G" "" "likely pathogenic (dominant)" "" "0000931860" "0" "70" "1" "182850561" "182850561" "subst" "0" "00006" "DHX9_000017" "g.182850561G>T" "" "{PMID:Calame 2023:37467750}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.182881426G>T" "" "likely pathogenic (dominant)" "" "0000931861" "0" "70" "1" "182827250" "182827250" "subst" "0" "00006" "DHX9_000008" "g.182827250C>T" "" "{PMID:Calame 2023:37467750}" "" "" "" "De novo" "" "" "0" "" "" "g.182858115C>T" "" "likely pathogenic (dominant)" "" "0000931862" "0" "70" "1" "182829219" "182829219" "subst" "0" "00006" "DHX9_000009" "g.182829219G>A" "" "{PMID:Calame 2023:37467750}" "" "" "" "De novo" "" "" "0" "" "" "g.182860084G>A" "" "likely pathogenic (dominant)" "" "0000931863" "0" "70" "1" "182845630" "182845631" "del" "0" "00006" "DHX9_000012" "g.182845630_182845631del" "" "{PMID:Calame 2023:37467750}" "" "2075_2076delGA" "" "De novo" "" "" "0" "" "" "g.182876495_182876496del" "" "likely pathogenic (dominant)" "" "0000931864" "0" "70" "1" "182847239" "182847239" "subst" "0" "00006" "DHX9_000014" "g.182847239G>A" "" "{PMID:Calame 2023:37467750}" "" "" "" "De novo" "" "" "0" "" "" "g.182878104G>A" "" "likely pathogenic (dominant)" "" "0000931865" "0" "70" "1" "182856253" "182856253" "subst" "0" "00006" "DHX9_000019" "g.182856253G>C" "" "{PMID:Calame 2023:37467750}" "" "" "" "De novo" "" "" "0" "" "" "g.182887118G>C" "" "likely pathogenic (dominant)" "" "0000931866" "0" "70" "1" "182847238" "182847238" "subst" "0" "00006" "DHX9_000013" "g.182847238C>T" "" "{PMID:Calame 2023:37467750}" "" "" "" "De novo" "" "" "0" "" "" "g.182878103C>T" "" "likely pathogenic (dominant)" "" "0000931867" "0" "70" "1" "182856543" "182856543" "subst" "0" "00006" "DHX9_000021" "g.182856543C>T" "" "{PMID:Calame 2023:37467750}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.182887408C>T" "" "likely pathogenic (dominant)" "" "0000931868" "0" "70" "1" "182849656" "182849656" "subst" "0" "00006" "DHX9_000016" "g.182849656A>G" "" "{PMID:Calame 2023:37467750}" "" "" "" "De novo" "" "" "0" "" "" "g.182880521A>G" "" "likely pathogenic (dominant)" "" "0000931869" "0" "70" "1" "182848543" "182848543" "subst" "0" "00006" "DHX9_000015" "g.182848543G>C" "" "{PMID:Calame 2023:37467750}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.182879408G>C" "" "likely pathogenic (dominant)" "" "0000931870" "0" "70" "1" "182856519" "182856519" "subst" "0" "00006" "DHX9_000020" "g.182856519G>A" "" "{PMID:Calame 2023:37467750}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.182887384G>A" "" "likely pathogenic (dominant)" "" "0000931871" "0" "70" "1" "182852665" "182852665" "subst" "0" "00006" "DHX9_000003" "g.182852665G>A" "" "{PMID:Iossifov 2014:25363768}, {PMID:Calame 2023:37467750}" "" "" "" "De novo" "" "" "0" "" "" "g.182883530G>A" "" "likely pathogenic (dominant)" "" "0000931872" "0" "70" "1" "182847247" "182847247" "subst" "0" "00006" "DHX9_000004" "g.182847247C>T" "" "{PMID:Calame 2023:37467750}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.182878112C>T" "" "VUS" "" "0000931873" "0" "70" "1" "182827238" "182827238" "subst" "0" "00006" "DHX9_000005" "g.182827238G>A" "" "{PMID:Calame 2023:37467750}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.182858103G>A" "" "likely pathogenic" "" "0000990605" "0" "50" "1" "182848458" "182848458" "subst" "0" "02327" "DHX9_000022" "g.182848458C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031524" "0" "30" "1" "182856342" "182856356" "del" "0" "01804" "DHX9_000023" "g.182856342_182856356del" "" "" "" "DHX9(NM_001357.5):c.3586_3600del (p.(Ser1196_Gly1200del))" "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 DHX9 ## Count = 24 "{{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}}" "0000321164" "00006402" "50" "2351" "8" "2351" "8" "c.2351+8C>A" "r.(=)" "p.(=)" "" "0000321165" "00006402" "50" "3166" "0" "3166" "0" "c.3166G>A" "r.(?)" "p.(Ala1056Thr)" "" "0000931854" "00006402" "70" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "" "0000931855" "00006402" "70" "1822" "0" "1822" "0" "c.1822T>G" "r.(?)" "p.(Cys608Gly)" "" "0000931856" "00006402" "70" "3497" "0" "3497" "0" "c.3497G>C" "r.(?)" "p.(Arg1166Pro)" "" "0000931857" "00006402" "70" "627" "-4" "627" "-4" "c.627-4dup" "r.spl" "p.?" "" "0000931858" "00006402" "70" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Val473Ile)" "" "0000931859" "00006402" "70" "3488" "0" "3488" "0" "c.3488A>G" "r.(?)" "p.(Lys1163Arg)" "" "0000931860" "00006402" "70" "2786" "1" "2786" "1" "c.2786+1G>T" "r.spl" "p.?" "" "0000931861" "00006402" "70" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229Ter)" "" "0000931862" "00006402" "70" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Gly411Glu)" "" "0000931863" "00006402" "70" "2075" "0" "2076" "0" "c.2075_2076del" "r.(?)" "p.(Glu693GlyfsTer7)" "" "0000931864" "00006402" "70" "2282" "0" "2282" "0" "c.2282G>A" "r.(?)" "p.(Arg761Gln)" "" "0000931865" "00006402" "70" "3497" "0" "3497" "0" "c.3497G>C" "r.(?)" "p.(Arg1166Pro)" "" "0000931866" "00006402" "70" "2281" "0" "2281" "0" "c.2281C>T" "r.(?)" "p.(Arg761Trp)" "" "0000931867" "00006402" "70" "3787" "0" "3787" "0" "c.3787C>T" "r.(?)" "p.(Gln1263Ter)" "" "0000931868" "00006402" "70" "2537" "0" "2537" "0" "c.2537A>G" "r.(?)" "p.(Asp846Gly)" "" "0000931869" "00006402" "70" "2510" "0" "2510" "0" "c.2510G>C" "r.(?)" "p.(Arg837Thr)" "" "0000931870" "00006402" "70" "3763" "0" "3763" "0" "c.3763G>A" "r.(?)" "p.(Ala1255Thr)" "" "0000931871" "00006402" "70" "3155" "0" "3155" "0" "c.3155G>A" "r.(?)" "p.(Arg1052Gln)" "" "0000931872" "00006402" "70" "2290" "0" "2290" "0" "c.2290C>T" "r.(?)" "p.(Arg764*)" "" "0000931873" "00006402" "70" "674" "-1" "674" "-1" "c.674-1G>A" "r.spl" "p.?" "" "0000990605" "00006402" "50" "2425" "0" "2425" "0" "c.2425C>T" "r.(?)" "p.(Arg809Cys)" "" "0001031524" "00006402" "30" "3586" "0" "3600" "0" "c.3586_3600del" "r.(?)" "p.(Ser1196_Gly1200del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000437089" "0000931854" "0000437090" "0000931855" "0000437091" "0000931856" "0000437092" "0000931857" "0000437093" "0000931858" "0000437094" "0000931859" "0000437095" "0000931860" "0000437096" "0000931861" "0000437097" "0000931862" "0000437098" "0000931863" "0000437099" "0000931864" "0000437100" "0000931865" "0000437101" "0000931866" "0000437102" "0000931867" "0000437103" "0000931868" "0000437104" "0000931869" "0000437105" "0000931870" "0000437106" "0000931871" "0000437107" "0000931872" "0000437108" "0000931873"