### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NCDN) # 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}}" "NCDN" "neurochondrin" "1" "p34.3" "unknown" "NC_000001.10" "UD_136089495543" "" "https://www.LOVD.nl/NCDN" "" "1" "17597" "23154" "608458" "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/NCDN_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-03 14:52:46" "00000" "2025-11-01 13:22:20" ## 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}}" "00014344" "NCDN" "transcript variant 3" "001" "NM_014284.2" "" "NP_055099.1" "" "" "" "-399" "3306" "2190" "36023393" "36032380" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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 = 1 "{{geneid}}" "{{diseaseid}}" "NCDN" "05611" ## 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}}" "00359631" "" "" "" "3" "" "00006" "{PMID:Fatima 2021:33711248}" "2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam1PatII1" "00359632" "" "" "00359631" "1" "" "00006" "{PMID:Fatima 2021:33711248}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam1PatII2" "00359633" "" "" "00359631" "1" "" "00006" "{PMID:Fatima 2021:33711248}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam1PatII3" "00359634" "" "" "" "1" "" "00006" "{PMID:Fatima 2021:33711248}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "" "Fam2PatII1" "00359635" "" "" "" "1" "" "00006" "{PMID:Fatima 2021:33711248}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Fam3PatII1" "00359636" "" "" "" "1" "" "00006" "{PMID:Fatima 2021:33711248}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Japan" "" "0" "" "" "" "Fam4PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00359631" "05611" "00359632" "05611" "00359633" "05611" "00359634" "05611" "00359635" "05611" "00359636" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000254904" "05611" "00359631" "00006" "Familial, autosomal recessive" "16y" "length 160 cm 16y (-2.5 SD), OFC 53 cm 14y (-1.1 SD); no facial dysmorphisms; 3y-walk, normal ambulation; 2y-3y-first words, 16y-normal speech; 16y-read and write with difficulties; normal vision; noral hearing; mild intellectual disability; generalized seizures, 1-2/motnh; MRI-brain normal structures; EEG-slightly abnormal" "4y" "" "" "" "" "" "neurodevelopmental delay" "0000254905" "05611" "00359632" "00006" "Familial, autosomal recessive" "15y" "length 149 cm 15y (-2.5 SD), OFC 50 cm 13y (-2.8 SD); no facial dysmorphisms; 5y-walk, normal ambulation; 2y-first words, 15y-normal speech; 15y-read and write with difficulties; normal vision; noral hearing; mild intellectual disability; rare febrile seizures, generalized seizure (fever induced); EEG-slightly abnormal" "4y" "" "" "" "" "" "neurodevelopmental delay" "0000254906" "05611" "00359633" "00006" "Familial, autosomal recessive" "14y" "length 145 cm 14y (-2.5 SD), OFC 50 cm 12y (-2.6 SD); no facial dysmorphisms; 1y-walk, normal ambulation; 2y-first words, 14y-normal speech; 14y-read and write with difficulties; normal vision; noral hearing; mild intellectual disability; rare febrile seizures, generalized seizure (fever induced); EEG-slightly abnormal" "4y" "" "" "" "" "" "neurodevelopmental delay" "0000254907" "05611" "00359634" "00006" "Isolated (sporadic)" "13y" "length 152 cm 11y (+2.0 SD), OFC 51 cm 10y (-1.5 SD); no facial dysmorphisms; 14m-walk, normal ambulation; 3y-first words, 13y-profound speech problems; 10y-read and write with difficulties; normal vision; noral hearing; mild intellectual disability; no seizures; 3y-EEG-normal" "2y6m" "" "" "" "" "" "neurodevelopmental delay" "0000254908" "05611" "00359635" "00006" "Isolated (sporadic)" "3y" "length 96 cm 3y (+0.7 SD), OFC 47 cm 3y (-1.6 SD); high arched palate; 3y-walk, normal ambulation; 2y-first words; normal vision; noral hearing; moderate intellectual disability; seizures, 50 times/day prior to treatment, epileptic spasms, focal; MRI-brain delayed myelination; 4m-EEG-hypsarrhythmia" "1m" "" "" "" "" "" "neurodevelopmental delay" "0000254909" "05611" "00359636" "00006" "Isolated (sporadic)" "5y" "length 92 cm 5y (-3.2 SD), OFC 49 cm 5y (-0.8 SD); esotropia, hypertelorism, epicanthus; 5y-unable to walk; 5y-no meaningful words; normal vision; noral hearing; severe intellectual disability; seizures,5 times/day prior to treatment, epileptic spasms, myoclonus; MRI-brain normal structures; 1y-EEG-hypsarrhythmia" "4m" "" "" "" "" "" "neurodevelopmental delay" ## 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}}" "0000360861" "00359631" "1" "00006" "00006" "2021-04-03 15:08:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360862" "00359632" "1" "00006" "00006" "2021-04-03 15:08:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360863" "00359633" "1" "00006" "00006" "2021-04-03 15:08:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360864" "00359634" "1" "00006" "00006" "2021-04-03 15:08:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360865" "00359635" "1" "00006" "00006" "2021-04-03 15:08:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360866" "00359636" "1" "00006" "00006" "2021-04-03 15:08:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000360861" "NCDN" "0000360862" "NCDN" "0000360863" "NCDN" "0000360864" "NCDN" "0000360865" "NCDN" "0000360866" "NCDN" ## 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 = 17 "{{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}}" "0000760973" "3" "70" "1" "36028146" "36028146" "subst" "0" "00006" "NCDN_000001" "g.36028146G>C" "" "{PMID:Fatima 2021:33711248}" "" "" "" "Germline" "" "" "0" "" "" "g.35562545G>C" "" "likely pathogenic (recessive)" "" "0000760974" "3" "70" "1" "36028146" "36028146" "subst" "0" "00006" "NCDN_000001" "g.36028146G>C" "" "{PMID:Fatima 2021:33711248}" "" "" "" "Germline" "" "" "0" "" "" "g.35562545G>C" "" "likely pathogenic (recessive)" "" "0000760975" "3" "70" "1" "36028146" "36028146" "subst" "0" "00006" "NCDN_000001" "g.36028146G>C" "" "{PMID:Fatima 2021:33711248}" "" "" "" "Germline" "" "" "0" "" "" "g.35562545G>C" "" "likely pathogenic (recessive)" "" "0000760976" "0" "70" "1" "36028850" "36028850" "subst" "0" "00006" "NCDN_000002" "g.36028850G>A" "" "{PMID:Fatima 2021:33711248}" "" "Arg478Glu" "" "De novo" "" "" "0" "" "" "g.35563249G>A" "" "likely pathogenic (dominant)" "" "0000760977" "0" "70" "1" "36028909" "36028909" "subst" "0" "00006" "NCDN_000003" "g.36028909T>C" "" "{PMID:Fatima 2021:33711248}" "" "" "" "De novo" "" "" "0" "" "" "g.35563308T>C" "" "likely pathogenic (dominant)" "" "0000760978" "0" "70" "1" "36031029" "36031029" "subst" "0" "00006" "NCDN_000004" "g.36031029C>T" "" "{PMID:Fatima 2021:33711248}" "" "" "" "De novo" "" "" "0" "" "" "g.35565428C>T" "" "likely pathogenic (dominant)" "" "0000883429" "0" "50" "1" "36025917" "36025917" "subst" "0" "02327" "KIAA0319L_000002" "g.36025917C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973909" "0" "50" "1" "36028146" "36028146" "subst" "4.06587E-6" "01804" "NCDN_000005" "g.36028146G>A" "" "" "" "NCDN(NM_014284.3):c.1297G>A (p.(Glu433Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991193" "0" "70" "1" "36026326" "36026342" "dup" "0" "01804" "KIAA0319L_000004" "g.36026326_36026342dup" "" "" "" "NCDN(NM_014284.2):c.574_590dupTTTGACCAGGCCCTGGC (p.(Leu199fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000991194" "0" "50" "1" "36029002" "36029002" "subst" "0" "01804" "NCDN_000006" "g.36029002G>A" "" "" "" "NCDN(NM_014284.2):c.1585G>A (p.(Val529Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031998" "0" "50" "1" "36025965" "36025965" "subst" "4.06395E-6" "01804" "KIAA0319L_000005" "g.36025965A>T" "" "" "" "NCDN(NM_014284.3):c.213A>T (p.(Lys71Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031999" "0" "50" "1" "36026509" "36026509" "subst" "0.000256133" "01804" "KIAA0319L_000006" "g.36026509G>A" "" "" "" "NCDN(NM_014284.3):c.757G>A (p.(Val253Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050047" "0" "50" "1" "36023793" "36023793" "del" "0" "01804" "KIAA0319L_000007" "g.36023793del" "" "" "" "NCDN(NM_014284.3):c.2del (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050048" "0" "30" "1" "36024465" "36024465" "subst" "0" "01804" "KIAA0319L_000008" "g.36024465T>G" "" "" "" "NCDN(NM_014284.3):c.34-243T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050049" "0" "50" "1" "36026872" "36026872" "subst" "4.29553E-5" "01804" "KIAA0319L_000009" "g.36026872G>T" "" "" "" "NCDN(NM_014284.3):c.1120G>T (p.(Ala374Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050050" "0" "50" "1" "36028060" "36028060" "subst" "0" "01804" "NCDN_000007" "g.36028060C>A" "" "" "" "NCDN(NM_014284.3):c.1211C>A (p.(Ala404Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050051" "0" "50" "1" "36031227" "36031227" "subst" "0" "01804" "NCDN_000008" "g.36031227G>A" "" "" "" "NCDN(NM_014284.3):c.2153G>A (p.(Arg718His))" "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 NCDN ## Count = 17 "{{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}}" "0000760973" "00014344" "70" "1297" "0" "1297" "0" "c.1297G>C" "r.(?)" "p.(Glu433Gln)" "" "0000760974" "00014344" "70" "1297" "0" "1297" "0" "c.1297G>C" "r.(?)" "p.(Glu433Gln)" "" "0000760975" "00014344" "70" "1297" "0" "1297" "0" "c.1297G>C" "r.(?)" "p.(Glu433Gln)" "" "0000760976" "00014344" "70" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Arg478Gln)" "" "0000760977" "00014344" "70" "1492" "0" "1492" "0" "c.1492T>C" "r.(?)" "p.(Trp498Arg)" "" "0000760978" "00014344" "70" "1955" "0" "1955" "0" "c.1955C>T" "r.(?)" "p.(Pro652Leu)" "" "0000883429" "00014344" "50" "175" "-10" "175" "-10" "c.175-10C>G" "r.(=)" "p.(=)" "" "0000973909" "00014344" "50" "1297" "0" "1297" "0" "c.1297G>A" "r.(?)" "p.(Glu433Lys)" "" "0000991193" "00014344" "70" "574" "0" "590" "0" "c.574_590dup" "r.(?)" "p.(Leu199Thrfs*81)" "" "0000991194" "00014344" "50" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" "0001031998" "00014344" "50" "213" "0" "213" "0" "c.213A>T" "r.(?)" "p.(Lys71Asn)" "" "0001031999" "00014344" "50" "757" "0" "757" "0" "c.757G>A" "r.(?)" "p.(Val253Met)" "" "0001050047" "00014344" "50" "2" "0" "2" "0" "c.2del" "r.?" "p.?" "" "0001050048" "00014344" "30" "34" "-243" "34" "-243" "c.34-243T>G" "r.(=)" "p.(=)" "" "0001050049" "00014344" "50" "1120" "0" "1120" "0" "c.1120G>T" "r.(?)" "p.(Ala374Ser)" "" "0001050050" "00014344" "50" "1211" "0" "1211" "0" "c.1211C>A" "r.(?)" "p.(Ala404Asp)" "" "0001050051" "00014344" "50" "2153" "0" "2153" "0" "c.2153G>A" "r.(?)" "p.(Arg718His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000360861" "0000760973" "0000360862" "0000760974" "0000360863" "0000760975" "0000360864" "0000760976" "0000360865" "0000760977" "0000360866" "0000760978"