### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAH6) # 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}}" "DNAH6" "dynein, axonemal, heavy chain 6" "2" "p11.2" "unknown" "NC_000002.11" "UD_132586451180" "" "https://www.LOVD.nl/DNAH6" "" "1" "2951" "1768" "603336" "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/DNAH6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-16 22:18:26" "00000" "2026-01-20 18:57:21" ## 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}}" "00006520" "DNAH6" "dynein, axonemal, heavy chain 6" "001" "NM_001370.1" "" "NP_001361.1" "" "" "" "-137" "12658" "12477" "84743579" "85046713" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "05153" "MCPH" "microcephaly, primary, autosomal recessive (MCPH)" "" "" "" "" "" "00006" "2016-04-14 15:50:58" "00006" "2016-07-05 08:24:40" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00401208" "" "" "" "1" "" "00006" "{PMID:Naqvi 2022:35089071}" "5-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "family" "00403112" "" "" "" "4" "" "00006" "{PMID:Gershoni 2017:28206990}" "3-generation family, 4 affected (4M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Israel" "" "0" "" "" "Muslim;Arab" "FamC" "00462378" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00468253" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "F" "" "United States" "" "0" "" "" "non-Hispanic;black" "LAT1663" "00468255" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "LAT1085" "00468258" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "LAT0279" "00468267" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "F" "" "United States" "" "0" "" "" "non-Hispanic;white" "GMKF_6" "00468274" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "M" "" "United States" "" "0" "" "" "non-Hispanic;black" "GMKF_13" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00401208" "05153" "00403112" "05562" "00462378" "00332" "00468253" "00198" "00468255" "00198" "00468258" "00198" "00468267" "00198" "00468274" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00332, 05153, 05562 ## Count = 8 "{{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}}" "0000294251" "05153" "00401208" "00006" "Familial, autosomal recessive" "" "see paper; ..., small heads, mild-moderate intellectual disability, short stature, narrow and oval shaped faces, receding foreheads, large ears, prominent nose; attention deficit behavior, speech apraxia; never attended school; affected males spend time wandering streets, no concept of money, not able to perform any conceptual work, recognize relatives, find their way home, sense of self-respect, comfortable with strangers and are friendly" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000295859" "05562" "00403112" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "azoospermia" "" "0000349877" "00332" "00462378" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000353405" "00198" "00468253" "00006" "Di-genic" "" "see paper; ..., tricuspid atresia, double outlet right ventricle, levo-malposed great arteries; atrial situs solitus; right ventricular situs; left arterial situs; complex tricuspid atresia" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" "0000353407" "00198" "00468255" "00006" "Di-genic" "" "see paper; ..., heterotaxy, left atrial isomerism, L-ventricular looping, common atrioventricular septal defect, double outlet right ventricle, levo-malposed great arteries; atrial situs ambiguus; left ventricular situs; Arterial situs; heterotaxy (left atrial isomerism)" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" "0000353410" "00198" "00468258" "00006" "Di-genic" "" "see paper; ..., L-ventricular looping, DILV, left transposition great arteries, pulmonary stenosis, Subpulmonary stenosis; atrial situs solitus; left ventricular situs; left arterial situs; double inlet left ventricle" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" "0000353419" "00198" "00468267" "00006" "Di-genic" "" "see paper; ..., double outlet right ventricle, dextro-malposed great arteries, common atrium, left superior vena cava non communicating with RSVC, hypoplastic left ventricle; atrial situs solitus; right ventricular situs; right arterial situs; double outlet right ventricle, dextro-malposed great arteries" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" "0000353426" "00198" "00468274" "00006" "Di-genic" "" "see paper; ..., heterotaxy, single RV, double inlet left ventricle, hypoplastic MV; heterotaxy" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000402452" "00401208" "1" "00006" "00006" "2022-01-29 16:26:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404353" "00403112" "1" "00006" "00006" "2022-02-16 22:14:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000464010" "00462378" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000469919" "00468253" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469921" "00468255" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469924" "00468258" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469933" "00468267" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469940" "00468274" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 48 "{{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}}" "0000256029" "0" "50" "2" "84904252" "84904252" "subst" "3.97351E-5" "01943" "DNAH6_000003" "g.84904252A>G" "" "" "" "DNAH6(NM_001370.1):c.6736A>G (p.I2246V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84677128A>G" "" "VUS" "" "0000275342" "0" "10" "2" "84972274" "84972274" "subst" "0.000504139" "01943" "DNAH6_000006" "g.84972274C>A" "" "" "" "DNAH6(NM_001370.1):c.10413C>A (p.H3471Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84745150C>A" "" "benign" "" "0000275343" "0" "50" "2" "84924796" "84924796" "subst" "0.000295295" "01943" "DNAH6_000004" "g.84924796C>T" "" "" "" "DNAH6(NM_001370.1):c.7622C>T (p.A2541V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84697672C>T" "" "VUS" "" "0000327135" "0" "50" "2" "84846883" "84846883" "subst" "0.00126912" "01804" "DNAH6_000001" "g.84846883A>T" "" "" "" "DNAH6(NM_001370.1):c.3647A>T (p.(His1216Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84619759A>T" "" "VUS" "" "0000327138" "0" "50" "2" "84930694" "84930694" "subst" "0.000305831" "01804" "DNAH6_000005" "g.84930694G>A" "" "" "" "DNAH6(NM_001370.1):c.8229+8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84703570G>A" "" "VUS" "" "0000349492" "0" "50" "2" "85039580" "85039580" "subst" "0" "02327" "DNAH6_000008" "g.85039580C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84812456C>T" "" "VUS" "" "0000517005" "0" "50" "2" "84831654" "84831654" "dup" "0" "02325" "DNAH6_000009" "g.84831654dup" "" "" "" "DNAH6(NM_001370.2):c.3060dupC (p.E1022Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84604530dup" "" "VUS" "" "0000517006" "0" "50" "2" "84834133" "84834133" "subst" "3.30434E-5" "02325" "DNAH6_000010" "g.84834133A>G" "" "" "" "DNAH6(NM_001370.1):c.3208A>G (p.T1070A), DNAH6(NM_001370.2):c.3208A>G (p.T1070A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84607009A>G" "" "VUS" "" "0000621123" "0" "50" "2" "84834133" "84834133" "subst" "3.30434E-5" "01943" "DNAH6_000010" "g.84834133A>G" "" "" "" "DNAH6(NM_001370.1):c.3208A>G (p.T1070A), DNAH6(NM_001370.2):c.3208A>G (p.T1070A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84607009A>G" "" "VUS" "" "0000621124" "0" "50" "2" "84846931" "84846931" "subst" "0.000290705" "02325" "DNAH6_000014" "g.84846931T>G" "" "" "" "DNAH6(NM_001370.2):c.3695T>G (p.M1232R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84619807T>G" "" "VUS" "" "0000621125" "0" "30" "2" "84851636" "84851636" "subst" "0.000302246" "01943" "DNAH6_000015" "g.84851636C>T" "" "" "" "DNAH6(NM_001370.1):c.4245C>T (p.Y1415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84624512C>T" "" "likely benign" "" "0000654726" "0" "30" "2" "84821161" "84821161" "subst" "1.98452E-5" "01943" "DNAH6_000016" "g.84821161C>T" "" "" "" "DNAH6(NM_001370.1):c.2676C>T (p.L892=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84594037C>T" "" "likely benign" "" "0000654727" "0" "30" "2" "84931295" "84931295" "subst" "0" "01943" "DNAH6_000017" "g.84931295T>C" "" "" "" "DNAH6(NM_001370.1):c.8334T>C (p.P2778=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84704171T>C" "" "likely benign" "" "0000654728" "0" "50" "2" "84932822" "84932822" "subst" "0" "01943" "DNAH6_000018" "g.84932822G>A" "" "" "" "DNAH6(NM_001370.1):c.8678G>A (p.R2893Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84705698G>A" "" "VUS" "" "0000676728" "0" "50" "2" "84848342" "84848342" "subst" "1.98318E-5" "02325" "DNAH6_000019" "g.84848342C>T" "" "" "" "DNAH6(NM_001370.2):c.3820C>T (p.R1274*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688863" "0" "50" "2" "84881833" "84881833" "subst" "3.92562E-5" "02325" "DNAH6_000020" "g.84881833T>A" "" "" "" "DNAH6(NM_001370.2):c.5684T>A (p.M1895K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688864" "0" "50" "2" "84937417" "84937417" "subst" "0" "02325" "DNAH6_000021" "g.84937417C>A" "" "" "" "DNAH6(NM_001370.2):c.9259C>A (p.R3087S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719073" "0" "50" "2" "85024693" "85024693" "subst" "0" "01943" "DNAH6_000022" "g.85024693C>T" "" "" "" "DNAH6(NM_001370.1):c.11392C>T (p.Q3798*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000836606" "3" "30" "2" "84846883" "84846883" "subst" "0.00126912" "00006" "DNAH6_000001" "g.84846883A>T" "" "{PMID:Naqvi 2022:35089071}" "" "" "" "Germline" "" "rs367551290" "0" "" "" "" "" "likely benign" "" "0000840036" "3" "70" "2" "84972274" "84972274" "subst" "0.000504139" "00006" "DNAH6_000006" "g.84972274C>A" "" "{PMID:Gershoni 2017:28206990}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000850049" "0" "50" "2" "84936563" "84936563" "subst" "0" "01943" "DNAH6_000024" "g.84936563C>T" "" "" "" "DNAH6(NM_001370.1):c.9145C>T (p.R3049W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858707" "0" "50" "2" "84800714" "84800714" "subst" "0" "02325" "DNAH6_000023" "g.84800714A>T" "" "" "" "DNAH6(NM_001370.2):c.1924+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885413" "0" "50" "2" "84838943" "84838943" "subst" "1.99105E-5" "02325" "DNAH6_000025" "g.84838943G>A" "" "" "" "DNAH6(NM_001370.2):c.3440G>A (p.R1147Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885414" "0" "50" "2" "84881862" "84881862" "subst" "0" "02325" "DNAH6_000026" "g.84881862T>C" "" "" "" "DNAH6(NM_001370.2):c.5713T>C (p.W1905R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885415" "0" "50" "2" "84921405" "84921405" "subst" "1.31093E-5" "02325" "DNAH6_000027" "g.84921405A>G" "" "" "" "DNAH6(NM_001370.2):c.7325A>G (p.N2442S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885416" "0" "50" "2" "84990029" "84990029" "subst" "1.31764E-5" "02325" "DNAH6_000028" "g.84990029G>A" "" "" "" "DNAH6(NM_001370.2):c.10663G>A (p.A3555T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885417" "0" "30" "2" "85040178" "85040178" "subst" "0.000111773" "02325" "DNAH6_000029" "g.85040178T>A" "" "" "" "DNAH6(NM_001370.2):c.11926-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923786" "0" "50" "2" "84864352" "84864352" "subst" "1.34061E-5" "02325" "DNAH6_000030" "g.84864352G>A" "" "" "" "DNAH6(NM_001370.2):c.4672G>A (p.E1558K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923787" "0" "50" "2" "84912554" "84912554" "subst" "1.36534E-5" "02325" "DNAH6_000031" "g.84912554G>T" "" "" "" "DNAH6(NM_001370.2):c.7021G>T (p.E2341*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928659" "0" "50" "2" "85040203" "85040203" "subst" "0.00036716" "02325" "DNAH6_000032" "g.85040203C>T" "" "" "" "DNAH6(NM_001370.2):c.11947C>T (p.P3983S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993050" "0" "50" "2" "85046473" "85046473" "subst" "1.97999E-5" "02325" "DNAH6_000033" "g.85046473C>T" "" "" "" "DNAH6(NM_001370.2):c.12418C>T (p.R4140W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024680" "0" "50" "2" "84928332" "84928332" "subst" "3.29368E-5" "02325" "DNAH6_000034" "g.84928332A>G" "" "" "" "DNAH6(NM_001370.2):c.7930A>G (p.S2644G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027654" "0" "30" "2" "84756265" "84756265" "subst" "0.00019371" "00006" "DNAH6_000035" "g.84756265A>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs774899113" "0" "" "" "g.84529141A>G" "" "likely benign" "" "0001033499" "0" "30" "2" "84780043" "84780043" "subst" "2.0798E-5" "01804" "DNAH6_000036" "g.84780043G>C" "" "" "" "DNAH6(NM_001370.2):c.1487G>C (p.(Gly496Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033500" "0" "30" "2" "84800720" "84800720" "subst" "0.00332497" "01804" "DNAH6_000037" "g.84800720T>G" "" "" "" "DNAH6(NM_001370.2):c.1924+9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033501" "0" "30" "2" "84811183" "84811183" "subst" "0.00331508" "01804" "DNAH6_000038" "g.84811183T>C" "" "" "" "DNAH6(NM_001370.2):c.2290T>C (p.(Tyr764His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033502" "0" "30" "2" "84848456" "84848456" "subst" "0.00451101" "01804" "DNAH6_000039" "g.84848456G>T" "" "" "" "DNAH6(NM_001370.2):c.3934G>T (p.(Val1312Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033503" "0" "50" "2" "84848659" "84848659" "subst" "6.699E-6" "02325" "DNAH6_000040" "g.84848659A>C" "" "" "" "DNAH6(NM_001370.2):c.4055A>C (p.E1352A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045859" "0" "50" "2" "84777113" "84777113" "subst" "4.06395E-6" "02325" "DNAH6_000041" "g.84777113C>T" "" "" "" "DNAH6(NM_001370.2):c.1417C>T (p.R473*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045860" "0" "50" "2" "84921479" "84921479" "subst" "0.000411335" "02325" "DNAH6_000042" "g.84921479A>G" "" "" "" "DNAH6(NM_001370.2):c.7399A>G (p.K2467E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057973" "1" "70" "2" "84881906" "84881906" "subst" "0" "00006" "DNAH6_000046" "g.84881906A>C" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.84654782A>C" "" "likely pathogenic (!)" "" "0001057976" "1" "70" "2" "84822780" "84822780" "subst" "0" "00006" "DNAH6_000043" "g.84822780A>T" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.84595656A>T" "" "likely pathogenic (!)" "" "0001057995" "1" "70" "2" "84864340" "84864340" "subst" "2.03417E-5" "00006" "DNAH6_000044" "g.84864340A>G" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.84637216A>G" "" "likely pathogenic (!)" "" "0001058009" "1" "70" "2" "84990029" "84990029" "subst" "1.31764E-5" "00006" "DNAH6_000028" "g.84990029G>A" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.84762905G>A" "" "likely pathogenic (!)" "" "0001058016" "1" "70" "2" "84869148" "84869148" "subst" "2.65256E-5" "00006" "DNAH6_000045" "g.84869148A>G" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.84642024A>G" "" "likely pathogenic (!)" "" "0001063471" "0" "50" "2" "84771562" "84771562" "subst" "0.000247973" "02325" "DNAH6_000047" "g.84771562C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063472" "0" "50" "2" "84777034" "84777037" "del" "0" "02325" "DNAH6_000048" "g.84777034_84777037del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063473" "0" "50" "2" "84949881" "84949881" "subst" "0" "02325" "DNAH6_000049" "g.84949881T>C" "" "" "" "" "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 DNAH6 ## Count = 48 "{{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}}" "0000256029" "00006520" "50" "6736" "0" "6736" "0" "c.6736A>G" "r.(?)" "p.(Ile2246Val)" "" "0000275342" "00006520" "10" "10413" "0" "10413" "0" "c.10413C>A" "r.(?)" "p.(His3471Gln)" "" "0000275343" "00006520" "50" "7622" "0" "7622" "0" "c.7622C>T" "r.(?)" "p.(Ala2541Val)" "" "0000327135" "00006520" "50" "3647" "0" "3647" "0" "c.3647A>T" "r.(?)" "p.(His1216Leu)" "" "0000327138" "00006520" "50" "8229" "8" "8229" "8" "c.8229+8G>A" "r.(=)" "p.(=)" "" "0000349492" "00006520" "50" "11855" "0" "11855" "0" "c.11855C>T" "r.(?)" "p.(Thr3952Ile)" "" "0000517005" "00006520" "50" "3060" "0" "3060" "0" "c.3060dup" "r.(?)" "p.(Glu1022ArgfsTer5)" "" "0000517006" "00006520" "50" "3208" "0" "3208" "0" "c.3208A>G" "r.(?)" "p.(Thr1070Ala)" "" "0000621123" "00006520" "50" "3208" "0" "3208" "0" "c.3208A>G" "r.(?)" "p.(Thr1070Ala)" "" "0000621124" "00006520" "50" "3695" "0" "3695" "0" "c.3695T>G" "r.(?)" "p.(Met1232Arg)" "" "0000621125" "00006520" "30" "4245" "0" "4245" "0" "c.4245C>T" "r.(?)" "p.(Tyr1415=)" "" "0000654726" "00006520" "30" "2676" "0" "2676" "0" "c.2676C>T" "r.(?)" "p.(Leu892=)" "" "0000654727" "00006520" "30" "8334" "0" "8334" "0" "c.8334T>C" "r.(?)" "p.(Pro2778=)" "" "0000654728" "00006520" "50" "8678" "0" "8678" "0" "c.8678G>A" "r.(?)" "p.(Arg2893Gln)" "" "0000676728" "00006520" "50" "3820" "0" "3820" "0" "c.3820C>T" "r.(?)" "p.(Arg1274Ter)" "" "0000688863" "00006520" "50" "5684" "0" "5684" "0" "c.5684T>A" "r.(?)" "p.(Met1895Lys)" "" "0000688864" "00006520" "50" "9259" "0" "9259" "0" "c.9259C>A" "r.(?)" "p.(Arg3087Ser)" "" "0000719073" "00006520" "50" "11392" "0" "11392" "0" "c.11392C>T" "r.(?)" "p.(Gln3798*)" "" "0000836606" "00006520" "30" "3647" "0" "3647" "0" "c.3647A>T" "r.(?)" "p.(His1216Leu)" "" "0000840036" "00006520" "70" "10413" "0" "10413" "0" "c.10413C>A" "r.(?)" "p.(His3471Gln)" "" "0000850049" "00006520" "50" "9145" "0" "9145" "0" "c.9145C>T" "r.(?)" "p.(Arg3049Trp)" "" "0000858707" "00006520" "50" "1924" "3" "1924" "3" "c.1924+3A>T" "r.spl?" "p.?" "" "0000885413" "00006520" "50" "3440" "0" "3440" "0" "c.3440G>A" "r.(?)" "p.(Arg1147Gln)" "" "0000885414" "00006520" "50" "5713" "0" "5713" "0" "c.5713T>C" "r.(?)" "p.(Trp1905Arg)" "" "0000885415" "00006520" "50" "7325" "0" "7325" "0" "c.7325A>G" "r.(?)" "p.(Asn2442Ser)" "" "0000885416" "00006520" "50" "10663" "0" "10663" "0" "c.10663G>A" "r.(?)" "p.(Ala3555Thr)" "" "0000885417" "00006520" "30" "11926" "-4" "11926" "-4" "c.11926-4T>A" "r.spl?" "p.?" "" "0000923786" "00006520" "50" "4672" "0" "4672" "0" "c.4672G>A" "r.(?)" "p.(Glu1558Lys)" "" "0000923787" "00006520" "50" "7021" "0" "7021" "0" "c.7021G>T" "r.(?)" "p.(Glu2341*)" "" "0000928659" "00006520" "50" "11947" "0" "11947" "0" "c.11947C>T" "r.(?)" "p.(Pro3983Ser)" "" "0000993050" "00006520" "50" "12418" "0" "12418" "0" "c.12418C>T" "r.(?)" "p.(Arg4140Trp)" "" "0001024680" "00006520" "50" "7930" "0" "7930" "0" "c.7930A>G" "r.(?)" "p.(Ser2644Gly)" "" "0001027654" "00006520" "30" "637" "0" "637" "0" "c.637A>G" "r.(?)" "p.(Ile213Val)" "" "0001033499" "00006520" "30" "1487" "0" "1487" "0" "c.1487G>C" "r.(?)" "p.(Gly496Ala)" "" "0001033500" "00006520" "30" "1924" "9" "1924" "9" "c.1924+9T>G" "r.(=)" "p.(=)" "" "0001033501" "00006520" "30" "2290" "0" "2290" "0" "c.2290T>C" "r.(?)" "p.(Tyr764His)" "" "0001033502" "00006520" "30" "3934" "0" "3934" "0" "c.3934G>T" "r.(?)" "p.(Val1312Leu)" "" "0001033503" "00006520" "50" "4055" "0" "4055" "0" "c.4055A>C" "r.(?)" "p.(Glu1352Ala)" "" "0001045859" "00006520" "50" "1417" "0" "1417" "0" "c.1417C>T" "r.(?)" "p.(Arg473*)" "" "0001045860" "00006520" "50" "7399" "0" "7399" "0" "c.7399A>G" "r.(?)" "p.(Lys2467Glu)" "" "0001057973" "00006520" "70" "5757" "0" "5757" "0" "c.5757A>C" "r.(?)" "p.(Lys1919Asn)" "" "0001057976" "00006520" "70" "2735" "0" "2735" "0" "c.2735A>T" "r.(?)" "p.(Asp912Val)" "" "0001057995" "00006520" "70" "4660" "0" "4660" "0" "c.4660A>G" "r.(?)" "p.(Arg1554Gly)" "" "0001058009" "00006520" "70" "10663" "0" "10663" "0" "c.10663G>A" "r.(?)" "p.(Ala3555Thr)" "" "0001058016" "00006520" "70" "5048" "0" "5048" "0" "c.5048A>G" "r.(?)" "p.(Lys1683Arg)" "" "0001063471" "00006520" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Cys)" "" "0001063472" "00006520" "50" "1338" "0" "1341" "0" "c.1338_1341del" "r.(?)" "p.(Tyr446*)" "" "0001063473" "00006520" "50" "9925" "0" "9925" "0" "c.9925T>C" "r.(?)" "p.(Ser3309Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000402452" "0000836606" "0000404353" "0000840036" "0000464010" "0001027654" "0000469919" "0001057995" "0000469921" "0001057973" "0000469924" "0001057976" "0000469933" "0001058009" "0000469940" "0001058016"