### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNALI1) # 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}}" "DNALI1" "dynein, axonemal, light intermediate chain 1" "1" "p35.1" "unknown" "NC_000001.10" "UD_132455727127" "" "https://www.LOVD.nl/DNALI1" "" "1" "14353" "7802" "602135" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-11-11 21:57:10" "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}}" "00006583" "DNALI1" "dynein, axonemal, light intermediate chain 1" "001" "NM_003462.3" "" "NP_003453.2" "" "" "" "-10" "2639" "843" "38022520" "38032458" "" "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}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "07122" "SPGF83" "spermatogenic failure, type 83" "AR" "620354" "" "" "" "00006" "2024-11-11 21:56:31" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DNALI1" "05562" "DNALI1" "07122" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00457448" "" "" "" "1" "" "00006" "{PMID:Wu 2023:36792588}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "AC050" "00457449" "" "" "" "1" "" "00006" "{PMID:Sha 2023:36726469}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "FamPatII1" "00457450" "" "" "" "1" "" "00006" "{PMID:Zhang 2024:38212584}" "5-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "China" "" "0" "" "" "" "FamPatIV1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00457448" "00201" "00457449" "00201" "00457450" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 05562, 07122 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000345912" "00201" "00457448" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe asthenozoospermia; spermatozoa entirely immotile, normal flagellar morphology" "" "" "" "" "" "" "" "SPGF83" "male infertility" "0000345913" "00201" "00457449" "00006" "Familial, autosomal recessive" "" "see paper; ..., asthenoteratozoospermia" "" "" "" "" "" "" "" "SPGF83" "male infertility" "0000345914" "00201" "00457450" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe oligoasthenoteratozoospermia, no motile sperm" "" "" "" "" "" "" "" "SPGF83" "male infertility" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000459069" "00457448" "1" "00006" "00006" "2024-11-11 22:03:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459070" "00457449" "1" "00006" "00006" "2024-11-11 22:09:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459071" "00457450" "1" "00006" "00006" "2024-11-11 22:21:59" "" "" "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 = 14 "{{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}}" "0000250570" "0" "50" "1" "38056362" "38056362" "subst" "0" "02329" "GNL2_000004" "g.38056362A>T" "" "" "" "GNL2(NM_013285.3):c.329T>A (p.V110D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37590761A>T" "" "VUS" "" "0000298428" "0" "10" "1" "38019747" "38019747" "subst" "0.222937" "02325" "SNIP1_000011" "g.38019747C>T" "" "" "" "SNIP1(NM_024700.4):c.84G>A (p.V28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37554146C>T" "" "benign" "" "0000320742" "0" "50" "1" "38040285" "38040285" "subst" "0.00038594" "01804" "GNL2_000003" "g.38040285C>T" "" "" "" "GNL2(NM_013285.2):c.1283G>A (p.(Arg428Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37574684C>T" "" "VUS" "" "0000507354" "0" "30" "1" "38019673" "38019673" "subst" "0" "01804" "DNALI1_000001" "g.38019673G>C" "" "" "" "SNIP1(NM_024700.3):c.158C>G (p.(Pro53Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37554072G>C" "" "likely benign" "" "0000605732" "0" "50" "1" "38018312" "38018314" "del" "0" "01804" "DNALI1_000002" "g.38018312_38018314del" "" "" "" "SNIP1(NM_024700.3):c.264_266del (p.(Arg88del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37552711_37552713del" "" "VUS" "" "0000848721" "0" "30" "1" "38019657" "38019657" "subst" "0.000750978" "01943" "DNALI1_000003" "g.38019657G>T" "" "" "" "SNIP1(NM_024700.3):c.174C>A (p.S58R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991214" "0" "50" "1" "38025019" "38025019" "subst" "0" "01804" "DNALI1_000004" "g.38025019G>C" "" "" "" "DNALI1(NM_003462.3):c.385G>C (p.(Asp129His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991215" "0" "30" "1" "38033291" "38033291" "subst" "0.00151888" "01804" "DNALI1_000005" "g.38033291C>T" "" "" "" "GNL2(NM_013285.2):c.2026G>A (p.(Ala676Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991216" "0" "50" "1" "38049499" "38049499" "subst" "6.49788E-5" "01804" "DNALI1_000006" "g.38049499T>C" "" "" "" "GNL2(NM_013285.2):c.605A>G (p.(Gln202Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991217" "0" "50" "1" "38058381" "38058381" "subst" "0.000316864" "01804" "DNALI1_000007" "g.38058381G>A" "" "" "" "GNL2(NM_013285.2):c.176C>T (p.(Pro59Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016793" "3" "90" "1" "38027771" "38027774" "del" "0" "00006" "DNALI1_000008" "g.38027771_38027774del" "" "{PMID:Wu 2023:36792588}" "" "NM_003462.5:c.663_666del" "" "Germline" "" "" "0" "" "" "g.37562170_37562173del" "" "pathogenic (recessive)" "" "0001016794" "3" "95" "1" "38027796" "38027798" "del" "0" "00006" "DNALI1_000009" "g.38027796_38027798del" "" "{PMID:Sha 2023:36726469}" "" "NM_003462.5:c.691_693del" "" "Germline" "" "" "0" "" "" "g.37562195_37562197del" "" "pathogenic (recessive)" "" "0001016795" "3" "90" "1" "38027157" "38027157" "subst" "1.22549E-5" "00006" "DNALI1_000010" "g.38027157G>A" "" "{PMID:Zhang 2024:38212584}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.37561556G>A" "" "likely pathogenic (recessive)" "" "0001032010" "0" "30" "1" "38048473" "38048473" "subst" "0.000613497" "01804" "DNALI1_000011" "g.38048473G>C" "" "" "" "GNL2(NM_013285.3):c.701C>G (p.(Ser234Cys))" "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 DNALI1 ## Count = 14 "{{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}}" "0000250570" "00006583" "50" "26543" "0" "26543" "0" "c.*25700A>T" "r.(=)" "p.(=)" "" "0000298428" "00006583" "10" "-2783" "0" "-2783" "0" "c.-2783C>T" "r.(?)" "p.(=)" "" "0000320742" "00006583" "50" "10466" "0" "10466" "0" "c.*9623C>T" "r.(=)" "p.(=)" "" "0000507354" "00006583" "30" "-2857" "0" "-2857" "0" "c.-2857G>C" "r.(?)" "p.(=)" "" "0000605732" "00006583" "50" "-4218" "0" "-4216" "0" "c.-4218_-4216del" "r.(?)" "p.(=)" "" "0000848721" "00006583" "30" "-2873" "0" "-2873" "0" "c.-2873G>T" "r.(?)" "p.(=)" "" "0000991214" "00006583" "50" "385" "0" "385" "0" "c.385G>C" "r.(?)" "p.(Asp129His)" "" "0000991215" "00006583" "30" "3472" "0" "3472" "0" "c.*2629C>T" "r.(=)" "p.(=)" "" "0000991216" "00006583" "50" "19680" "0" "19680" "0" "c.*18837T>C" "r.(=)" "p.(=)" "" "0000991217" "00006583" "50" "28562" "0" "28562" "0" "c.*27719G>A" "r.(=)" "p.(=)" "" "0001016793" "00006583" "90" "732" "0" "735" "0" "c.732_735del" "r.(?)" "p.(Ser244Argfs*17)" "" "0001016794" "00006583" "95" "757" "0" "759" "0" "c.757_759del" "r.(?)" "p.(Lys253del)" "" "0001016795" "00006583" "90" "464" "-1" "464" "-1" "c.464-1G>A" "r.[(464_642del,464_468del)]" "p.[(Glu156Argfs*22,Asp155Valfs*49)]" "" "0001032010" "00006583" "30" "18654" "0" "18654" "0" "c.*17811G>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000459069" "0001016793" "0000459070" "0001016794" "0000459071" "0001016795"