### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DYNC1I2) # 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}}" "DYNC1I2" "dynein, cytoplasmic 1, intermediate chain 2" "2" "q31.1" "unknown" "NC_000002.11" "UD_134711709704" "" "https://www.LOVD.nl/DYNC1I2" "" "1" "2964" "1781" "603331" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DYNC1I2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-06-07 22:59:48" "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}}" "00025410" "DYNC1I2" "transcript variant 1" "001" "NM_001378.2" "" "NP_001369.1" "" "" "" "-228" "4186" "1917" "172543919" "172606668" "00006" "2019-06-07 23:02:52" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06486" "NEDMIBA" "Neurodevelopmental disorder with microcephaly and structural brain anomalies" "AR" "618492" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DYNC1I2" "06486" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00239764" "" "" "" "3" "" "00006" "{PMID:Ansar 2019:31079899}" "7-generation family, 3 affected sibs, unaffected heterozygous carrier parents/relatives" "M" "" "Pakistan" "" "0" "" "" "" "Fam1PatIV1" "00239765" "" "" "00239764" "1" "" "00006" "{PMID:Ansar 2019:31079899}" "" "F" "" "Pakistan" "" "0" "" "" "" "Fam1PatIV2" "00239766" "" "" "00239764" "1" "" "00006" "{PMID:Ansar 2019:31079899}" "" "F" "" "Pakistan" "" "0" "" "" "" "Fam1PatIV3" "00239767" "" "" "" "1" "" "00006" "{PMID:Ansar 2019:31079899}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "European" "Fam2PatII1" "00239768" "" "" "" "1" "" "00006" "{PMID:Ansar 2019:31079899}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Poland;Russian Federation" "" "0" "" "" "" "Fam3PatII1" "00453035" "" "" "" "3" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "2-generation family, 3 affected (2F, M), heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00239764" "00139" "00239765" "00139" "00239766" "00139" "00239767" "00139" "00239768" "00139" "00453035" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05611, 06486 ## Count = 6 "{{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}}" "0000179978" "00139" "00239764" "00006" "Familial, autosomal recessive" "20y" "severe intellectual disability, developmental delay, delayed speech, delayed motor milestones,; ADHD, aggressive; facial dysmorphism; MRI brain microcephaly with simplified gyral pattern, near complete agenesis corpus callosum with colpocephaly, mild brain atrophy; severe intellectual disability (HP:0010864); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "intellectual disability" "0000179979" "00139" "00239765" "00006" "Familial, autosomal recessive" "32y" "severe intellectual disability, developmental delay, delayed speech, delayed motor milestones,; ADHD, aggressive; facial dysmorphism; severe intellectual disability (HP:0010864); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "intellectual disability" "0000179980" "00139" "00239766" "00006" "Familial, autosomal recessive" "34y" "severe intellectual disability, developmental delay, delayed speech, delayed motor milestones,; ADHD, aggressive; facial dysmorphism; severe intellectual disability (HP:0010864); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "intellectual disability" "0000179981" "00139" "00239767" "00006" "Familial, autosomal recessive" "03y" "severe intellectual disability, developmental delay, delayed speech, delayed motor milestones; facial dysmorphism; MRI brain microcephaly with simplified gyral pattern, mega-cisterna magna, absence rostrum and genu corpus callosum and septum pellucidum, partial absence splenium; seizures, multiple hemangiomas; severe intellectual disability (HP:0010864); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "intellectual disability" "0000179982" "00139" "00239768" "00006" "Familial, autosomal recessive" "00y08m" "severe intellectual disability, developmental delay, delayed speech, delayed motor milestones; facial dysmorphism; MRI brain microcephalywith simplified gyral pattern, hypogenesis corpus callosum (small genu and splenium, reduced white matter volume, ventricle abnormality), large trigones; seizures, hypothyroidism, gastresophageal reflux, joint hyperextensibility, unilateral hearing loss due to left cochlear defect; severe intellectual disability (HP:0010864); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "intellectual disability" "0000341680" "05611" "00453035" "03566" "Familial, autosomal recessive" "" "mild-moderate intellectual disability, microcephaly, short stature, developmental delay, aggressive behavior, mild facial dysmorphism (upslanting palpebral features, anteverted nares, bulbous nose)" "" "" "" "" "" "" "" "NEDMIBA" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000240867" "00239764" "1" "00006" "00006" "2019-06-07 23:15:01" "" "" "SEQ-NG" "DNA" "" "WES" "0000240868" "00239765" "1" "00006" "00006" "2019-06-07 23:15:01" "" "" "SEQ-NG" "DNA" "" "WES" "0000240869" "00239766" "1" "00006" "00006" "2019-06-07 23:15:01" "" "" "SEQ-NG" "DNA" "" "WES" "0000240870" "00239767" "1" "00006" "00006" "2019-06-07 23:15:01" "" "" "SEQ-NG" "DNA" "" "WES" "0000240871" "00239768" "1" "00006" "00006" "2019-06-07 23:15:01" "" "" "SEQ-NG" "DNA" "" "WES" "0000454646" "00453035" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000240867" "DYNC1I2" "0000240868" "DYNC1I2" "0000240869" "DYNC1I2" "0000240870" "DYNC1I2" "0000240871" "DYNC1I2" ## 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}}" "0000484821" "3" "90" "2" "172582224" "172582224" "subst" "0" "00006" "DYNC1I2_000001" "g.172582224G>A" "" "{PMID:Ansar 2019:31079899}" "" "" "" "Germline" "yes" "" "0" "" "" "g.171725714G>A" "" "pathogenic (recessive)" "" "0000484822" "3" "90" "2" "172582224" "172582224" "subst" "0" "00006" "DYNC1I2_000001" "g.172582224G>A" "" "{PMID:Ansar 2019:31079899}" "" "" "" "Germline" "yes" "" "0" "" "" "g.171725714G>A" "" "pathogenic (recessive)" "" "0000484823" "3" "90" "2" "172582224" "172582224" "subst" "0" "00006" "DYNC1I2_000001" "g.172582224G>A" "" "{PMID:Ansar 2019:31079899}" "" "" "" "Germline" "yes" "" "0" "" "" "g.171725714G>A" "" "pathogenic (recessive)" "" "0000484824" "11" "90" "2" "172582561" "172582561" "subst" "1.85213E-5" "00006" "DYNC1I2_000002" "g.172582561A>G" "" "{PMID:Ansar 2019:31079899}" "" "" "" "Germline" "" "" "0" "" "" "g.171726051A>G" "" "pathogenic (recessive)" "" "0000484825" "21" "90" "2" "172582801" "172582801" "subst" "0" "00006" "DYNC1I2_000003" "g.172582801C>T" "" "{PMID:Ansar 2019:31079899}" "" "" "" "Germline" "" "" "0" "" "" "g.171726291C>T" "" "pathogenic (recessive)" "" "0000484826" "21" "90" "2" "172582561" "172582561" "subst" "1.85213E-5" "00006" "DYNC1I2_000002" "g.172582561A>G" "" "{PMID:Ansar 2019:31079899}" "" "" "" "Germline" "" "" "0" "" "" "g.171726051A>G" "" "pathogenic (recessive)" "" "0000484827" "11" "90" "2" "172318311" "172692048" "del" "0" "00006" "DYNC1I2_000004" "g.(172000000_172318311)_(172692048_173000000)del" "" "{PMID:Ansar 2019:31079899}" "" "" "374 kb deletion" "Germline" "" "" "0" "" "arr[hg19] 2q31.1(172,318,311–172,692,048)x1" "" "" "pathogenic (recessive)" "" "0000717993" "0" "50" "2" "172585342" "172585342" "subst" "5.40909E-5" "02325" "DYNC1I2_000005" "g.172585342C>T" "" "" "" "DYNC1I2(NM_001378.3):c.1373C>T (p.T458I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974471" "0" "30" "2" "172569345" "172569345" "subst" "4.07368E-6" "01804" "DYNC1I2_000006" "g.172569345T>C" "" "" "" "DYNC1I2(NM_001378.3):c.395+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974472" "0" "30" "2" "172582123" "172582124" "dup" "0" "01804" "DYNC1I2_000007" "g.172582123_172582124dup" "" "" "" "DYNC1I2(NM_001378.3):c.512-5_512-4dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989535" "3" "90" "2" "172582224" "172582224" "subst" "0" "03566" "DYNC1I2_000001" "g.172582224G>A" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.171725714G>A" "" "pathogenic (recessive)" "" "0001032527" "0" "50" "2" "172584380" "172584380" "subst" "0.000215979" "01804" "DYNC1I2_000008" "g.172584380T>G" "" "" "" "DYNC1I2(NM_001378.3):c.1046T>G (p.(Val349Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032528" "0" "50" "2" "172586366" "172586366" "subst" "8.15361E-6" "01804" "DYNC1I2_000009" "g.172586366A>C" "" "" "" "DYNC1I2(NM_001378.3):c.1536+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032529" "0" "50" "2" "172604356" "172604356" "subst" "5.71219E-5" "01804" "DYNC1I2_000010" "g.172604356G>A" "" "" "" "DYNC1I2(NM_001378.3):c.1874G>A (p.(Arg625Gln))" "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 DYNC1I2 ## 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}}" "0000484821" "00025410" "90" "607" "1" "607" "1" "c.607+1G>A" "r.spl" "p.?" "" "0000484822" "00025410" "90" "607" "1" "607" "1" "c.607+1G>A" "r.spl" "p.?" "" "0000484823" "00025410" "90" "607" "1" "607" "1" "c.607+1G>A" "r.spl" "p.?" "" "0000484824" "00025410" "90" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(Tyr247Cys)" "" "0000484825" "00025410" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Gln290*)" "" "0000484826" "00025410" "90" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(Tyr247Cys)" "" "0000484827" "00025410" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000717993" "00025410" "50" "1373" "0" "1373" "0" "c.1373C>T" "r.(?)" "p.(Thr458Ile)" "" "0000974471" "00025410" "30" "395" "9" "395" "9" "c.395+9T>C" "r.(=)" "p.(=)" "" "0000974472" "00025410" "30" "512" "-5" "512" "-4" "c.512-5_512-4dup" "r.spl?" "p.?" "" "0000989535" "00025410" "90" "607" "1" "607" "1" "c.607+1G>A" "r.spl" "p.?" "" "0001032527" "00025410" "50" "1046" "0" "1046" "0" "c.1046T>G" "r.(?)" "p.(Val349Gly)" "" "0001032528" "00025410" "50" "1536" "3" "1536" "3" "c.1536+3A>C" "r.spl?" "p.?" "" "0001032529" "00025410" "50" "1874" "0" "1874" "0" "c.1874G>A" "r.(?)" "p.(Arg625Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000240867" "0000484821" "0000240868" "0000484822" "0000240869" "0000484823" "0000240870" "0000484826" "0000240870" "0000484827" "0000240871" "0000484824" "0000240871" "0000484825" "0000454646" "0000989535"