### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NTNG2) # 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}}" "NTNG2" "netrin G2" "9" "q34" "unknown" "NC_000009.11" "UD_132610720585" "" "https://www.LOVD.nl/NTNG2" "" "1" "14288" "84628" "0" "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/NTNG2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-07 09:50:51" "00000" "2024-04-19 20:27:30" ## 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}}" "00014872" "NTNG2" "netrin G2" "001" "NM_032536.2" "" "NP_115925.2" "" "" "" "-776" "2315" "1593" "135037334" "135118220" "" "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" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05937" "NEDBASH" "neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH)" "AR" "618718" "" "" "" "00006" "2021-05-18 14:59:04" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NTNG2" "05611" "NTNG2" "05937" ## 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}}" "00265339" "" "" "" "2" "" "03427" "{PMID:Dias 2019:31668703}" "" "M" "yes" "Egypt" "" "0" "" "" "" "Fam6PatIV1" "00265340" "" "" "" "1" "" "03427" "{PMID:Dias 2019:31668703}" "" "F" "" "Bangladesh" "" "0" "" "" "" "Fam7PatII1" "00265341" "" "" "" "4" "" "03427" "{PMID:Dias 2019:31668703}" "" "M" "yes" "Turkey" "" "0" "" "" "" "Fam5PatIV1" "00265342" "" "" "" "2" "" "03427" "{PMID:Dias 2019:31668703}" "" "F" "" "Mexico" "" "0" "" "" "" "Fam4PatII1" "00265343" "" "" "" "2" "" "03427" "{PMID:Dias 2019:31668703}" "" "F" "yes" "Iran" "" "0" "" "" "" "Fam3PatIV1" "00265344" "" "" "" "3" "" "03427" "{PMID:Dias 2019:31668703}" "" "M" "yes" "Iran" "" "0" "" "" "" "Fam2PatIV1" "00265345" "" "" "" "2" "" "03427" "{PMID:Dias 2019:31668703}" "" "M" "yes" "Iran" "" "0" "" "" "" "Fam1PatIV2" "00265404" "" "" "" "1" "" "00006" "{PMID:Abu-Libdeh 2019:31372774}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Israel" "" "0" "" "" "Palestin, Arab Muslim" "Fam1PatIII2" "00265405" "" "" "" "4" "" "00006" "{PMID:Abu-Libdeh 2019:31372774}" "4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents" "F;M" "yes" "Israel" "" "0" "" "" "Palestin, Arab Muslim" "Fam2" "00265406" "" "" "" "2" "" "00006" "{PMID:Abu-Libdeh 2019:31372774}" "3-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Israel" "" "0" "" "" "Palestin, Arab Muslim" "Fam3" "00265407" "" "" "" "1" "" "00006" "{PMID:Abu-Libdeh 2019:31372774}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Israel" "" "0" "" "" "Palestin, Arab Muslim" "Fam4PatIV5" "00269814" "" "" "00265345" "1" "" "03427" "{PMID:Dias 2019:31668703}" "" "F" "yes" "Iran" "" "0" "" "" "" "Fam1PatIV3" "00269815" "" "" "00265344" "1" "" "03427" "{PMID:Dias 2019:31668703}" "" "M" "yes" "Iran" "" "0" "" "" "" "Fam2PatIV2" "00269816" "" "" "00265344" "1" "" "03427" "{PMID:Dias 2019:31668703}" "" "F" "yes" "Iran" "" "0" "" "" "" "Fam2PatIV3" "00269817" "" "" "00265343" "1" "" "03427" "{PMID:Dias 2019:31668703}" "" "F" "yes" "Iran" "" "0" "" "" "" "Fam3PatIV2" "00269818" "" "" "00265342" "1" "" "03427" "{PMID:Dias 2019:31668703}" "" "M" "" "Mexico" "" "0" "" "" "" "Fam4PatII2" "00269819" "" "" "00265341" "1" "" "03427" "{PMID:Dias 2019:31668703}" "" "M" "yes" "Turkey" "" "0" "" "" "" "Fam5PatIV2" "00269820" "" "" "00265341" "1" "" "03427" "{PMID:Dias 2019:31668703}" "" "F" "yes" "Turkey" "" "0" "" "" "" "Fam5PatIV4" "00269821" "" "" "00265341" "1" "" "03427" "{PMID:Dias 2019:31668703}" "" "M" "yes" "Turkey" "" "0" "" "" "" "Fam5PatIV5" "00269822" "" "" "00265339" "1" "" "03427" "{PMID:Dias 2019:31668703}" "" "M" "yes" "Egypt" "" "0" "" "" "" "Fam6PatIV2" "00373659" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "0" "" "" "chinese" "iw045" "00387899" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M9100008" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00265339" "00139" "00265340" "00139" "00265341" "00139" "00265342" "00139" "00265343" "00139" "00265344" "00139" "00265345" "00139" "00265404" "05162" "00265405" "05162" "00265406" "05162" "00265407" "05162" "00269814" "05611" "00269815" "05611" "00269816" "05611" "00269817" "05611" "00269818" "05611" "00269819" "05611" "00269820" "05611" "00269821" "05611" "00269822" "05611" "00373659" "00198" "00387899" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05162, 05611, 05937 ## Count = 22 "{{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}}" "0000203136" "00139" "00265339" "03427" "Familial, autosomal recessive" "11y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; no self-injury/hand-biting; bruxism; no hypotonia in infancy; ambulatory; MRI brain abnormalities; seizures; no microcephaly; dysmorphic features; no ophthalmologic features; no gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000203137" "00139" "00265340" "03427" "Familial, autosomal recessive" "3y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; no self-injury/hand-biting; no bruxism; hypotonia in infancy; ambulatory; MRI brain abnormalities; seizures; no microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000203138" "00139" "00265341" "03427" "Familial, autosomal recessive" "11y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; -; no bruxism; hypotonia in infancy; nonambulatory; no seizures; no ophthalmologic features; gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000203139" "00139" "00265342" "03427" "Familial, autosomal recessive" "11y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; self-injury/hand-biting; no bruxism; hypotonia in infancy; nonambulatory; no MRI brain abnormalities; seizures; microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000203140" "00139" "00265343" "03427" "Familial, autosomal recessive" "15y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; no self-injury/hand-biting; no bruxism; hypotonia in infancy; nonambulatory; no MRI brain abnormalities; no seizures; no microcephaly; dysmorphic features; ophthalmologic features; gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000203141" "00139" "00265344" "03427" "Familial, autosomal recessive" "11y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; bruxism; hypotonia in infancy; nonambulatory; MRI brain abnormalities; seizures; no microcephaly; dysmorphic features; no ophthalmologic features; gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000203142" "00139" "00265345" "03427" "Familial, autosomal recessive" "18y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; self-injury/hand-biting; no bruxism; hypotonia in infancy; nonambulatory; no MRI brain abnormalities; no seizures; no microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000203216" "05162" "00265404" "00006" "Familial, autosomal recessive" "" "see paper; …, global developmental delay, hypotonia, secondary microcephaly, autistic features" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000203217" "05162" "00265405" "00006" "Familial, autosomal recessive" "" "see paper; …, global developmental delay, hypotonia, secondary microcephaly, autistic features" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000203218" "05162" "00265406" "00006" "Familial, autosomal recessive" "" "see paper; …, global developmental delay, hypotonia, secondary microcephaly, autistic features" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000203219" "05162" "00265407" "00006" "Familial, autosomal recessive" "" "see paper; …, global developmental delay, hypotonia, secondary microcephaly, autistic features" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000207605" "05611" "00269814" "03427" "Familial, autosomal recessive" "10y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; bruxism; hypotonia in infancy; nonambulatory; no seizures; microcephaly; secondary microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000207606" "05611" "00269815" "03427" "Familial, autosomal recessive" "16y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; bruxism; hypotonia in infancy; nonambulatory; no seizures; microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000207607" "05611" "00269816" "03427" "Familial, autosomal recessive" "9y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; bruxism; hypotonia in infancy; nonambulatory; no seizures; microcephaly; secondary microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000207608" "05611" "00269817" "03427" "Familial, autosomal recessive" "11y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; no self-injury/hand-biting; no bruxism; hypotonia in infancy; nonambulatory; MRI brain abnormalities; no seizures; no microcephaly; dysmorphic features; ophthalmologic features; gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000207609" "05611" "00269818" "03427" "Familial, autosomal recessive" "21y" "intellectual disability/global developmental delay; motor delay; language delay; no autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; no bruxism; hypotonia in infancy; nonambulatory; seizures; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000207610" "05611" "00269819" "03427" "Familial, autosomal recessive" "1y4m" "intellectual disability/global developmental delay; motor delay; no hyperactivity; -; hypotonia in infancy; no seizures; no microcephaly; dysmorphic features; no ophthalmologic features; gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000207611" "05611" "00269820" "03427" "Familial, autosomal recessive" "9y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; -; bruxism; hypotonia in infancy; nonambulatory; MRI brain abnormalities; no seizures; microcephaly; dysmorphic features; ophthalmologic features; gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000207612" "05611" "00269821" "03427" "Familial, autosomal recessive" "5y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; no screaming/laughing spells; -; bruxism; hypotonia in infancy; nonambulatory; MRI brain abnormalities; no seizures; no microcephaly; dysmorphic features; ophthalmologic features; gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000207613" "05611" "00269822" "03427" "Familial, autosomal recessive" "8y" "intellectual disability/global developmental delay; motor delay; language delay; no autistic features/stereotypy; hyperactivity; no screaming/laughing spells; no self-injury/hand-biting; no bruxism; no hypotonia in infancy; ambulatory; MRI brain abnormalities; no seizures; no microcephaly; dysmorphic features; no ophthalmologic features; no gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000268931" "00198" "00373659" "01864" "Familial, autosomal recessive" "" "HP:0001252; HP:0001250; HP:0001249; HP:0001263; HP:0002540; HP:0000750; HP:0001999" "" "" "" "" "" "" "" "" "NEDBASH" "neurodevelopmental disorder" "" "0000281467" "00139" "00387899" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "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}}" "0000266458" "00265339" "1" "03427" "03427" "2019-09-20 21:48:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000266459" "00265340" "1" "03427" "03427" "2019-09-20 21:59:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000266460" "00265341" "1" "03427" "03427" "2019-09-20 22:06:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000266461" "00265342" "1" "03427" "03427" "2019-09-20 22:10:05" "" "" "SEQ-NG" "DNA" "" "WES" "0000266462" "00265343" "1" "03427" "03427" "2019-09-20 22:13:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000266463" "00265344" "1" "03427" "03427" "2019-09-20 22:16:45" "" "" "SEQ-NG" "DNA" "" "WES" "0000266464" "00265345" "1" "03427" "03427" "2019-09-20 22:19:32" "" "" "SEQ-NG" "DNA" "" "WES" "0000266530" "00265404" "1" "00006" "00006" "2019-09-24 22:56:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000266531" "00265405" "1" "00006" "00006" "2019-09-24 22:56:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000266532" "00265406" "1" "00006" "00006" "2019-09-24 22:56:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000266533" "00265407" "1" "00006" "00006" "2019-09-24 22:56:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270966" "00269814" "1" "03427" "00006" "2019-12-07 10:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270967" "00269815" "1" "03427" "00006" "2019-12-07 10:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270968" "00269816" "1" "03427" "00006" "2019-12-07 10:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270969" "00269817" "1" "03427" "00006" "2019-12-07 10:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270970" "00269818" "1" "03427" "00006" "2019-12-07 10:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270971" "00269819" "1" "03427" "00006" "2019-12-07 10:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270972" "00269820" "1" "03427" "00006" "2019-12-07 10:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270973" "00269821" "1" "03427" "00006" "2019-12-07 10:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270974" "00269822" "1" "03427" "00006" "2019-12-07 10:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374892" "00373659" "1" "01864" "01864" "2021-05-18 10:42:45" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000389130" "00387899" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000266530" "NTNG2" "0000266531" "NTNG2" "0000266532" "NTNG2" "0000266533" "NTNG2" "0000270966" "NTNG2" "0000270967" "NTNG2" "0000270968" "NTNG2" "0000270969" "NTNG2" "0000270970" "NTNG2" "0000270971" "NTNG2" "0000270972" "NTNG2" "0000270973" "NTNG2" "0000270974" "NTNG2" "0000374892" "NTNG2" "0000389130" "NTNG2" ## 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 = 26 "{{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}}" "0000298751" "0" "50" "9" "135073926" "135073926" "subst" "0" "02329" "NTNG2_000001" "g.135073926G>A" "" "" "" "NTNG2(NM_032536.4):c.787G>A (p.G263S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132198539G>A" "" "VUS" "" "0000597120" "3" "90" "9" "135073585" "135073585" "subst" "0" "03427" "NTNG2_000004" "g.135073585T>C" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "" "" "0" "" "" "g.132198198T>C" "" "pathogenic (recessive)" "" "0000597121" "3" "90" "9" "135073738" "135073738" "subst" "0" "03427" "NTNG2_000005" "g.135073738C>T" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132198351C>T" "" "pathogenic (recessive)" "" "0000597122" "3" "90" "9" "135073381" "135073381" "subst" "0" "03427" "NTNG2_000002" "g.135073381G>A" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132197994G>A" "" "pathogenic (recessive)" "" "0000597123" "3" "90" "9" "135114501" "135114501" "subst" "0" "03427" "NTNG2_000006" "g.135114501C>G" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "" "" "0" "" "" "g.132239114C>G" "" "pathogenic (recessive)" "" "0000597124" "3" "90" "9" "135114512" "135114512" "subst" "0" "03427" "NTNG2_000007" "g.135114512C>G" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132239125C>G" "" "pathogenic (recessive)" "" "0000597125" "3" "90" "9" "135073458" "135073458" "subst" "0" "03427" "NTNG2_000003" "g.135073458T>G" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132198071T>G" "" "pathogenic (recessive)" "" "0000597126" "3" "90" "9" "135117272" "135117272" "subst" "0" "03427" "NTNG2_000008" "g.135117272G>A" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132241885G>A" "" "pathogenic (recessive)" "" "0000597227" "3" "90" "9" "135073515" "135073515" "dup" "0" "00006" "NTNG2_000009" "g.135073515dup" "" "{PMID:Abu-Libdeh 2019:31372774}" "" "376dupT" "" "Germline" "" "" "0" "" "" "g.132198128dup" "" "pathogenic (recessive)" "" "0000597228" "3" "90" "9" "135073515" "135073515" "dup" "0" "00006" "NTNG2_000009" "g.135073515dup" "" "{PMID:Abu-Libdeh 2019:31372774}" "" "376dupT" "" "Germline" "" "" "0" "" "" "g.132198128dup" "" "pathogenic (recessive)" "" "0000597229" "3" "90" "9" "135073515" "135073515" "dup" "0" "00006" "NTNG2_000009" "g.135073515dup" "" "{PMID:Abu-Libdeh 2019:31372774}" "" "376dupT" "" "Germline" "" "" "0" "" "" "g.132198128dup" "" "pathogenic (recessive)" "" "0000597230" "3" "90" "9" "135073515" "135073515" "dup" "0" "00006" "NTNG2_000009" "g.135073515dup" "" "{PMID:Abu-Libdeh 2019:31372774}" "" "376dupT" "" "Germline" "" "" "0" "" "" "g.132198128dup" "" "pathogenic (recessive)" "" "0000624786" "3" "90" "9" "135117272" "135117272" "subst" "0" "03427" "NTNG2_000008" "g.135117272G>A" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132241885G>A" "" "pathogenic (recessive)" "" "0000624787" "3" "90" "9" "135073458" "135073458" "subst" "0" "03427" "NTNG2_000003" "g.135073458T>G" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132198071T>G" "" "pathogenic (recessive)" "" "0000624788" "3" "90" "9" "135073458" "135073458" "subst" "0" "03427" "NTNG2_000003" "g.135073458T>G" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132198071T>G" "" "pathogenic (recessive)" "" "0000624789" "3" "90" "9" "135114512" "135114512" "subst" "0" "03427" "NTNG2_000007" "g.135114512C>G" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132239125C>G" "" "pathogenic (recessive)" "" "0000624790" "3" "90" "9" "135114501" "135114501" "subst" "0" "03427" "NTNG2_000006" "g.135114501C>G" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "" "" "0" "" "" "g.132239114C>G" "" "pathogenic (recessive)" "" "0000624791" "3" "90" "9" "135073381" "135073381" "subst" "0" "03427" "NTNG2_000002" "g.135073381G>A" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132197994G>A" "" "pathogenic (recessive)" "" "0000624792" "3" "90" "9" "135073381" "135073381" "subst" "0" "03427" "NTNG2_000002" "g.135073381G>A" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132197994G>A" "" "pathogenic (recessive)" "" "0000624793" "3" "90" "9" "135073381" "135073381" "subst" "0" "03427" "NTNG2_000002" "g.135073381G>A" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132197994G>A" "" "pathogenic (recessive)" "" "0000624794" "3" "90" "9" "135073585" "135073585" "subst" "0" "03427" "NTNG2_000004" "g.135073585T>C" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132198198T>C" "" "pathogenic (recessive)" "" "0000785801" "11" "90" "9" "135073744" "135073744" "subst" "0" "01864" "NTNG2_000011" "g.135073744G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000785802" "21" "90" "9" "135073686" "135073686" "del" "0" "01864" "NTNG2_000010" "g.135073686del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.132198299del" "" "pathogenic" "ACMG" "0000817923" "3" "70" "9" "135117272" "135117272" "subst" "0" "00006" "NTNG2_000008" "g.135117272G>A" "" "{PMID:Hu 2019:29302074}" "" "" "novel candidate disease gene" "Germline" "" "" "0" "" "" "g.132241885G>A" "" "likely pathogenic (recessive)" "" "0000852148" "0" "50" "9" "135102315" "135102315" "subst" "0" "02325" "NTNG2_000012" "g.135102315G>A" "" "" "" "NTNG2(NM_032536.4):c.937G>A (p.G313S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978454" "0" "50" "9" "135116329" "135116329" "subst" "1.64578E-5" "01804" "NTNG2_000013" "g.135116329G>C" "" "" "" "NTNG2(NM_032536.4):c.1255G>C (p.(Asp419His))" "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 NTNG2 ## Count = 26 "{{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}}" "0000298751" "00014872" "50" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Gly263Ser)" "" "0000597120" "00014872" "90" "446" "0" "446" "0" "c.446T>C" "r.(?)" "p.(Met149Thr)" "" "0000597121" "00014872" "90" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Ser200Leu)" "" "0000597122" "00014872" "90" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Cys81Tyr)" "" "0000597123" "00014872" "90" "1065" "0" "1065" "0" "c.1065C>G" "r.(?)" "p.(Cys355Trp)" "" "0000597124" "00014872" "90" "1076" "0" "1076" "0" "c.1076C>G" "r.(?)" "p.(Ser359Cys)" "" "0000597125" "00014872" "90" "319" "0" "319" "0" "c.319T>G" "r.(?)" "p.(Trp107Gly)" "" "0000597126" "00014872" "90" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Cys456Tyr)" "" "0000597227" "00014872" "90" "376" "0" "376" "0" "c.376dup" "r.(?)" "p.(Ser126Phefs*241)" "" "0000597228" "00014872" "90" "376" "0" "376" "0" "c.376dup" "r.(?)" "p.(Ser126Phefs*241)" "" "0000597229" "00014872" "90" "376" "0" "376" "0" "c.376dup" "r.(?)" "p.(Ser126Phefs*241)" "" "0000597230" "00014872" "90" "376" "0" "376" "0" "c.376dup" "r.(?)" "p.(Ser126Phefs*241)" "" "0000624786" "00014872" "90" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Cys456Tyr)" "" "0000624787" "00014872" "90" "319" "0" "319" "0" "c.319T>G" "r.(?)" "p.(Trp107Gly)" "" "0000624788" "00014872" "90" "319" "0" "319" "0" "c.319T>G" "r.(?)" "p.(Trp107Gly)" "" "0000624789" "00014872" "90" "1076" "0" "1076" "0" "c.1076C>G" "r.(?)" "p.(Ser359Cys)" "" "0000624790" "00014872" "90" "1065" "0" "1065" "0" "c.1065C>G" "r.(?)" "p.(Cys355Trp)" "" "0000624791" "00014872" "90" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Cys81Tyr)" "" "0000624792" "00014872" "90" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Cys81Tyr)" "" "0000624793" "00014872" "90" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Cys81Tyr)" "" "0000624794" "00014872" "90" "446" "0" "446" "0" "c.446T>C" "r.(?)" "p.(Met149Thr)" "" "0000785801" "00014872" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Trp202*)" "8" "0000785802" "00014872" "90" "547" "0" "547" "0" "c.547del" "r.(?)" "p.(Arg183Alafs*186)" "7" "0000817923" "00014872" "70" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Cys456Tyr)" "" "0000852148" "00014872" "50" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Gly313Ser)" "" "0000978454" "00014872" "50" "1255" "0" "1255" "0" "c.1255G>C" "r.(?)" "p.(Asp419His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000266458" "0000597120" "0000266459" "0000597121" "0000266460" "0000597122" "0000266461" "0000597123" "0000266462" "0000597124" "0000266463" "0000597125" "0000266464" "0000597126" "0000266530" "0000597227" "0000266531" "0000597228" "0000266532" "0000597229" "0000266533" "0000597230" "0000270966" "0000624786" "0000270967" "0000624787" "0000270968" "0000624788" "0000270969" "0000624789" "0000270970" "0000624790" "0000270971" "0000624791" "0000270972" "0000624792" "0000270973" "0000624793" "0000270974" "0000624794" "0000374892" "0000785801" "0000374892" "0000785802" "0000389130" "0000817923"