### 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" "NC_000001.10" "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" "2025-12-18 16:02:19" "00006" "2025-12-19 10:27:20" ## 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}}" "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 = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "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" "07221" "MRD75" "intellectual developmental disorder, autosomal dominant, type 75" "AD" "620988" "" "" "" "00006" "2025-12-18 16:03:37" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "DHX9" "05113" "DHX9" "05611" "DHX9" "07221" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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" "00471220" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "350089" "00471245" "" "" "" "1" "" "00006" "{PMID:Yamada 2023:37369308}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Japan" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{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" "00471220" "00139" "00471245" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05113, 05611, 07221 ## Count = 21 "{{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" "" "" "" "" "" "" "" "" "MRD75" "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" "" "" "" "" "" "" "" "" "MRD75" "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" "" "" "" "" "" "" "" "" "MRD75" "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" "" "" "" "" "" "" "" "" "MRD75" "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" "" "" "" "" "" "" "" "" "MRD75" "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" "" "" "" "" "" "" "" "" "MRD75" "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" "" "" "" "" "" "" "" "" "MRD75" "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" "" "" "" "" "" "" "" "" "MRD75" "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" "" "" "" "" "" "" "" "" "MRD75" "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" "" "" "" "" "" "" "" "" "MRD75" "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" "" "" "" "" "" "" "" "" "MRD75" "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" "" "" "" "" "" "" "" "" "MRD75" "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" "" "" "" "" "" "" "" "" "MRD75" "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" "" "" "" "" "" "" "" "" "MRD75" "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" "" "" "" "" "" "" "" "" "MRD75" "neurodevelopmental delay" "" "0000356080" "00139" "00471220" "01164" "Isolated (sporadic)" "01y" "Febrile seizure (within the age range of 3 months to 6 years), Complex febrile seizure, mild developmental delay" "" "" "" "" "" "" "" "" "MRD75" "" "" "0000356081" "00139" "00471245" "00006" "Isolated (sporadic)" "08y" "see paper; ..., birth-36w, weight 1600g (-2.7SD), length 41cm (-2.8SD), OFC 28cm (-2.8SD), feeding difficulty, apnea episodes, bradycardia; gastroesophageal reflux, failure to thrive; severe developmental delay, hypotonia; short stature; intellectual disability; ECG ventricular non-compaction cardiomyopathy; facial dysmorphism, low-set ears, hypertelorism, epicanthic folds, slant-up and narrowing palpebral fissures, broad nasal bridge, small nares, broad alae nasi, smooth philtrum, thin upper lip, micro-retrognathia" "" "" "" "" "" "" "" "" "MRD75" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{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" "" "" "0000472890" "00471220" "1" "01164" "01164" "2025-12-18 11:22:36" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000472915" "00471245" "1" "00006" "00006" "2025-12-18 16:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000472890" "DHX9" ## 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 = 27 "{{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}, {PMID:Yamada 2023:37369308}" "" "" "ACMG PS2, PM1, PM2, PP3" "De novo" "" "" "0" "" "" "g.182883530G>A" "" "likely pathogenic (dominant)" "ACMG" "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" "" "0001050373" "0" "30" "1" "182856561" "182856561" "subst" "3.71348E-5" "01804" "DHX9_000024" "g.182856561G>A" "" "" "" "DHX9(NM_001357.5):c.3805G>A (p.(Gly1269Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001061629" "0" "70" "1" "182852658" "182852658" "subst" "0" "01164" "DHX9_000025" "g.182852658C>T" "" "" "" "" "ACMG/AMP: PVS1, PS2_supporting, PM2_supporting" "De novo" "-" "" "0" "" "" "g.182883523C>T" "" "pathogenic (dominant)" "ACMG" "0001061660" "0" "70" "1" "182829227" "182829227" "subst" "0" "00006" "DHX9_000026" "g.182829227G>A" "" "{PMID:Yamada 2023:37369308}" "" "" "ACMG S2, PM1, PM2, PP3" "De novo" "" "" "0" "" "" "g.182860092G>A" "" "likely pathogenic (dominant)" "ACMG" ## 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 = 27 "{{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)" "" "0001050373" "00006402" "30" "3805" "0" "3805" "0" "c.3805G>A" "r.(?)" "p.(Gly1269Ser)" "" "0001061629" "00006402" "70" "3148" "0" "3148" "0" "c.3148C>T" "r.(?)" "p.(Arg1050*)" "26" "0001061660" "00006402" "70" "1240" "0" "1240" "0" "c.1240G>A" "r.(?)" "p.(Gly414Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{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" "0000472890" "0001061629" "0000472915" "0001061660"