### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NAV3) # 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}}" "NAV3" "neuron navigator 3" "12" "q14.3" "unknown" "NC_000012.11" "UD_132319658144" "" "https://www.LOVD.nl/NAV3" "" "1" "15998" "89795" "611629" "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" "2026-11-03 19:55:24" "00006" "2026-11-04 09:59:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00014308" "NAV3" "neuron navigator 3" "001" "NM_014903.4" "" "NP_055718.4" "" "" "" "-173" "9585" "7092" "78225069" "78606790" "" "0000-00-00 00:00:00" "" "" "00026128" "NAV3" "transcript variant 1 (removed from reference sequence)" "000" "NM_001024383.2" "" "NP_001019554.1" "" "" "MANE select" "-568" "9651" "7158" "1" "1" "00006" "2026-11-03 19:53:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "07294" "NEDSFB" "neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities" "AR" "621182" "" "" "" "00006" "2026-11-03 19:56:09" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NAV3" "05611" "NAV3" "07294" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00488168" "" "" "" "2" "" "00006" "{PMID:Ghaffar 2024:38977784}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier mother" "M" "yes" "Pakistan" "" "0" "" "" "" "PKMR471PatIV3" "00488169" "" "" "00488168" "1" "" "00006" "{PMID:Ghaffar 2024:38977784}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "PKMR471PatIV4" "00488170" "" "" "" "2" "" "00006" "{PMID:Ghaffar 2024:38977784}" "2-generation family, affected twin sisters, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "PE30PatII4" "00488171" "" "" "00488170" "1" "" "00006" "{PMID:Ghaffar 2024:38977784}" "twin sister" "F" "yes" "Pakistan" "" "0" "" "" "" "PE30PatII5" "00488172" "" "" "" "1" "" "00006" "{PMID:Ghaffar 2024:38977784}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "MI01PatII1" "00488173" "" "" "" "3" "" "00006" "{PMID:Ghaffar 2024:38977784}" "2-generation family, 3 affected (father/mother/son)" "M" "" "" "" "0" "" "" "white" "F01PatII1" "00488174" "" "" "" "1" "" "00006" "{PMID:Ghaffar 2024:38977784}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "PED4263PatII1" "00488175" "" "" "" "1" "" "00006" "{PMID:Ghaffar 2024:38977784}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "PK1PatII2" "00488176" "" "" "" "3" "" "00006" "{PMID:Ghaffar 2024:38977784}, {PMID:Zech 2025:39937650}" "2-generation family, affected mother/2 daughters, unaffected father" "F" "" "United States" "" "0" "" "" "Europe" "FM1PatI1;M-WES-S277" "00488177" "" "" "00488176" "1" "" "00006" "{PMID:Ghaffar 2024:38977784}" "daughter" "F" "" "" "" "0" "" "" "" "FM1PatII1" "00488178" "" "" "00488176" "1" "" "00006" "{PMID:Ghaffar 2024:38977784}" "daughter" "F" "" "" "" "0" "" "" "" "FM1PatII2" "00488180" "" "" "" "7" "" "00006" "{PMID:Kakar 2025:39708122}" "6-generation family, 7 affected (F, 6M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam1" "00488181" "" "" "" "2" "" "00006" "{PMID:Kakar 2025:39708122}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives (older brother deceased)" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam2PatIV2" "00488182" "" "" "" "1" "" "00006" "{PMID:Kakar 2025:39708122}" "1-generation family, 1 affected brothers, unaffected heterozygous carrier parents/relatives" "F;M" "yes" "India" "" "0" "" "" "" "Fam3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00488168" "05611" "00488169" "05611" "00488170" "05611" "00488171" "05611" "00488172" "05611" "00488173" "05611" "00488174" "05611" "00488175" "05611" "00488176" "05611" "00488177" "05611" "00488178" "05611" "00488180" "05611" "00488181" "05611" "00488182" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611, 07294 ## Count = 14 "{{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}}" "0000370525" "05611" "00488168" "00006" "Familial, autosomal recessive" "22y" "severe intellectual disability; speech delay, 3y-few words; developmental delay, speech delay, walk delay; microcephaly; dentofacial abnormality, curved backbone, hypertelorism, feet deformity; aggressive; hypertelorism; mild strabismus; normal ear; no cardiac defects; cannot walk without support (8y-first attempt); hypotonia" "1d" "" "" "" "" "NEDFSB" "neurodevelopmental disorder" "0000370526" "05611" "00488169" "00006" "Familial, autosomal recessive" "14y" "severe intellectual disability; speech delay, 2y6m-few words; developmental delay, speech delay, walk delay; microcephaly; dentofacial abnormality, curved backbone, hypertelorism, feet deformity; aggressive; hypertelorism; strabismus (exotropia); normal ear; no cardiac defects; cannot walk without support (4y-first attempt); hypotonia" "1d" "" "" "" "" "NEDFSB" "neurodevelopmental disorder" "0000370527" "05611" "00488170" "00006" "Familial, autosomal recessive" "19y" "moderate intellectual disability; speech delay, 5y-few words; developmental delay, 2y-walk; microcephaly; no structural abnormalities; hyperactivity, stereotypic hand movements; normal eyes; normal ear; no cardiac defects; pigmentary skin changes; EEG normal" "1d" "" "" "" "" "NEDFSB" "neurodevelopmental disorder" "0000370528" "05611" "00488171" "00006" "Familial, autosomal recessive" "19y" "moderate intellectual disability; speech delay, 5y-few words; developmental delay, 2y-walk; microcephaly; no structural abnormalities; hyperactivity, stereotypic hand movements; normal eyes; normal ear; no cardiac defects" "1d" "" "" "" "" "NEDFSB" "neurodevelopmental disorder" "0000370529" "05611" "00488172" "00006" "Isolated (sporadic)" "" "mild intellectual disability; speech delay, 2y-first words; developmental delay; structural abnormalities; congenital anomalies" "" "" "" "" "" "" "neurodevelopmental disorder" "0000370530" "05611" "00488173" "00006" "Familial, autosomal recessive" "8y" "mild intellectual disability; speech delay, 3y-first words; developmental delay; OFC 1.4 SD; short hands, hypertelorism, long palpebral fissures; ADHD; strabismus (hypermetropia); large eyebrows; large ear lobules; testicular ectopia" "" "" "" "" "" "NEDFSB" "neurodevelopmental disorder" "0000370531" "05611" "00488174" "00006" "Isolated (sporadic)" "4y" "mild intellectual disability; speech delay; developmental delay; OFC 2 SD; pointed chin; frustration, ADHD; normal eyes; protruding ears; 1d-ventricular septal defect (spontaneously closed); large, crumbled café-au-lait stain on chest and back" "1d" "" "" "" "" "" "neurodevelopmental disorder" "0000370532" "05611" "00488175" "00006" "Familial, autosomal recessive" "12y" "severe intellectual disability; speech delay, 2y-two to three words; developmental delay, walk only with aid, cannot self-feed; microcephaly; no structural abnormalities; aggressive, introvert; normal eyes; normal ear; no cardiac defects; cannot walk without support; hypotonia" "1d" "" "" "" "" "NEDFSB" "neurodevelopmental disorder" "0000370533" "05611" "00488176" "00006" "Familial, autosomal dominant" "50y" "mild intellectual disability; preserved speech; OFC normal; no structural abnormalities; no behavioral problem; normal eyes; normal ear; no cardiac defects; generalized dystonia, wheelchair-bound; movement disorder (dystonia)" "" "" "" "" "" "" "neurodevelopmental disorder" "0000370534" "05611" "00488177" "00006" "Familial, autosomal dominant" "30y" "mild intellectual disability; preserved speech; OFC normal; no structural abnormalities; no behavioral problem; normal eyes; normal ear; no cardiac defects; mild dystonia (face); movement disorder (dystonia)" "" "" "" "" "" "" "neurodevelopmental disorder" "0000370535" "05611" "00488178" "00006" "Familial, autosomal dominant" "27y" "mild intellectual disability; preserved speech; OFC normal; no structural abnormalities; no behavioral problem; normal eyes; normal ear; no cardiac defects; generalized dystonia, dystonia of neck, face, all 4 limbs, walking with support only; movement disorder (dystonia)" "14y" "" "" "" "" "" "neurodevelopmental disorder" "0000370537" "05611" "00488180" "00006" "Familial, autosomal recessive" "" "dysmorphism, developmental delay, intellectual disability, behavioral abnormalities, microcephaly" "" "" "" "" "" "NEDFSB" "neurodevelopmental disorder" "0000370538" "05611" "00488181" "00006" "Familial, autosomal recessive" "" "dysmorphism, developmental delay, mild-moderate intellectual disability, behavioral abnormalities, early-onset nystagmus" "" "" "" "" "" "NEDFSB" "neurodevelopmental disorder" "0000370539" "05611" "00488182" "00006" "Familial, autosomal recessive" "" "dysmorphism, developmental delay, intellectual disability, behavioral abnormalities (aggressiveness, hyperactivity, lack of eye contact, non-verbal communication)" "" "" "" "" "" "NEDFSB" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000489830" "00488168" "1" "00006" "00006" "2026-11-03 21:01:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489831" "00488169" "1" "00006" "00006" "2026-11-03 21:01:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489832" "00488170" "1" "00006" "00006" "2026-11-03 21:01:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489833" "00488171" "1" "00006" "00006" "2026-11-03 21:01:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489834" "00488172" "1" "00006" "00006" "2026-11-03 21:01:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489835" "00488173" "1" "00006" "00006" "2026-11-03 21:01:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489836" "00488174" "1" "00006" "00006" "2026-11-03 21:01:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489837" "00488175" "1" "00006" "00006" "2026-11-03 21:01:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489838" "00488176" "1" "00006" "00006" "2026-11-03 21:01:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489839" "00488177" "1" "00006" "00006" "2026-11-03 21:01:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489840" "00488178" "1" "00006" "00006" "2026-11-03 21:01:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489842" "00488180" "1" "00006" "00006" "2026-11-04 09:52:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489843" "00488181" "1" "00006" "00006" "2026-11-04 09:52:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489844" "00488182" "1" "00006" "00006" "2026-11-04 09:52:58" "" "" "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 = 27 "{{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}}" "0000322996" "0" "50" "12" "78516037" "78516037" "subst" "3.25031E-5" "01804" "NAV3_000001" "g.78516037G>A" "" "" "" "NAV3(NM_014903.4):c.4067G>A (p.(Gly1356Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78122257G>A" "" "VUS" "" "0000322997" "0" "50" "12" "78540183" "78540184" "del" "0" "01804" "NAV3_000002" "g.78540183_78540184del" "" "" "" "NAV3(NM_014903.4):c.4707+3_4707+4del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78146403_78146404del" "" "VUS" "" "0000322998" "0" "50" "12" "78540184" "78540184" "del" "0" "01804" "NAV3_000003" "g.78540184del" "" "" "" "NAV3(NM_014903.4):c.4707+4del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78146404del" "" "VUS" "" "0000549179" "0" "50" "12" "78571071" "78571071" "subst" "0" "01804" "NAV3_000007" "g.78571071A>C" "" "" "" "NAV3(NM_014903.4):c.5275A>C (p.(Lys1759Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78177291A>C" "" "VUS" "" "0000622974" "0" "30" "12" "78362328" "78362328" "subst" "0" "01943" "NAV3_000008" "g.78362328C>T" "" "" "" "NAV3(NM_001024383.2):c.517C>T (p.L173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77968548C>T" "" "likely benign" "" "0000622975" "0" "50" "12" "78598728" "78598728" "subst" "2.0406E-5" "01943" "NAV3_000009" "g.78598728G>A" "" "" "" "NAV3(NM_001024383.2):c.6848G>A (p.R2283H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78204948G>A" "" "VUS" "" "0000679650" "0" "30" "12" "78334902" "78334902" "subst" "0" "01943" "NAV3_000010" "g.78334902C>G" "" "" "" "NAV3(NM_001024383.2):c.403C>G (p.Q135E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679651" "0" "50" "12" "78388627" "78388627" "subst" "0" "01943" "NAV3_000011" "g.78388627C>A" "" "" "" "NAV3(NM_001024383.2):c.716C>A (p.A239E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724238" "0" "50" "12" "78400867" "78400867" "subst" "0" "02329" "NAV3_000004" "g.78400867A>G" "" "" "" "NAV3(NM_001024383.2):c.1549A>G (p.K517E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724239" "0" "50" "12" "78511884" "78511886" "del" "0" "02329" "NAV3_000006" "g.78511884_78511886del" "" "" "" "NAV3(NM_001024383.2):c.2847_2849delAGA (p.E949del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980470" "0" "50" "12" "78225404" "78225404" "subst" "8.13643E-6" "01804" "NAV3_000012" "g.78225404C>T" "" "" "" "NAV3(NM_001024383.2):c.163C>T (p.(Gln55Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039467" "0" "30" "12" "78512060" "78512060" "subst" "0.00105782" "01804" "NAV3_000013" "g.78512060G>A" "" "" "" "NAV3(NM_001024383.2):c.3023G>A (p.(Ser1008Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039468" "0" "30" "12" "78530986" "78530986" "subst" "0.00257341" "01804" "NAV3_000014" "g.78530986C>A" "" "" "" "NAV3(NM_001024383.2):c.4471C>A (p.(Leu1491Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001094054" "3" "70" "12" "78598727" "78598727" "subst" "2.04027E-5" "00006" "chr12_009487" "g.78598727C>T" "" "{PMID:Ghaffar 2024:38977784}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78204947C>T" "" "likely pathogenic (recessive)" "" "0001094055" "3" "70" "12" "78598727" "78598727" "subst" "2.04027E-5" "00006" "chr12_009487" "g.78598727C>T" "" "{PMID:Ghaffar 2024:38977784}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78204947C>T" "" "likely pathogenic (recessive)" "" "0001094056" "3" "70" "12" "78515947" "78515947" "subst" "0" "00006" "chr12_009488" "g.78515947G>A" "" "{PMID:Ghaffar 2024:38977784}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78122167G>A" "" "likely pathogenic (recessive)" "" "0001094057" "3" "70" "12" "78515947" "78515947" "subst" "0" "00006" "chr12_009488" "g.78515947G>A" "" "{PMID:Ghaffar 2024:38977784}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78122167G>A" "" "likely pathogenic (recessive)" "" "0001094058" "0" "50" "12" "78569147" "78569147" "subst" "0" "00006" "chr12_009489" "g.78569147C>G" "" "{PMID:Ghaffar 2024:38977784}" "" "" "" "De novo" "" "" "0" "" "" "g.78175367C>G" "" "VUS" "" "0001094059" "3" "70" "12" "78553045" "78553046" "del" "0" "00006" "chr12_009490" "g.78553045_78553046del" "" "{PMID:Ghaffar 2024:38977784}" "" "4848_4849delAA" "" "Germline" "" "" "0" "" "" "g.78159265_78159266del" "" "likely pathogenic (recessive)" "" "0001094060" "0" "50" "12" "78513597" "78513597" "dup" "0" "00006" "chr12_009491" "g.78513597dup" "" "{PMID:Ghaffar 2024:38977784}" "" "3621insA" "" "De novo" "" "" "0" "" "" "g.78119817dup" "" "VUS" "" "0001094061" "3" "90" "12" "78400314" "78400314" "subst" "0" "00006" "chr12_009492" "g.78400314G>A" "" "{PMID:Ghaffar 2024:38977784}" "" "" "" "Germline" "" "" "0" "" "" "g.78006534G>A" "" "pathogenic (dominant)" "" "0001094062" "0" "50" "12" "78598756" "78598756" "subst" "0" "00006" "chr12_009493" "g.78598756G>A" "" "{PMID:Ghaffar 2024:38977784}" "" "6810G>A (Trp2270*)" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.78204976G>A" "" "VUS" "" "0001094063" "21" "50" "12" "78598756" "78598756" "subst" "0" "00006" "chr12_009493" "g.78598756G>A" "" "{PMID:Ghaffar 2024:38977784}" "" "6810G>A (Trp2270*)" "" "Germline" "yes" "" "0" "" "" "g.78204976G>A" "" "VUS" "" "0001094064" "21" "50" "12" "78598756" "78598756" "subst" "0" "00006" "chr12_009493" "g.78598756G>A" "" "{PMID:Ghaffar 2024:38977784}" "" "6810G>A (Trp2270*)" "" "Germline" "yes" "" "0" "" "" "g.78204976G>A" "" "VUS" "" "0001094066" "3" "90" "12" "78591060" "78591060" "subst" "0" "00006" "chr12_009494" "g.78591060C>T" "" "{PMID:Kakar 2025:39708122}" "" "" "ACMG PM1, PM2, PP1, PM4" "Germline" "yes" "" "0" "" "" "g.78197280C>T" "" "pathogenic (recessive)" "" "0001094067" "3" "70" "12" "78225485" "78225485" "subst" "0" "00006" "chr12_009495" "g.78225485G>T" "" "{PMID:Kakar 2025:39708122}" "" "" "ACMG PP1,PM2, PP3" "Germline" "yes" "" "0" "" "" "g.77831705G>T" "" "likely pathogenic (recessive)" "" "0001094068" "3" "90" "12" "78593173" "78593173" "subst" "0" "00006" "chr12_009496" "g.78593173C>T" "" "{PMID:Kakar 2025:39708122}" "" "" "ACMG PP1, PM2, PP3, PM4" "Germline" "yes" "" "0" "" "" "g.78199393C>T" "" "pathogenic (recessive)" "" ## 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 NAV3 ## Count = 27 "{{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}}" "0000322996" "00014308" "50" "4067" "0" "4067" "0" "c.4067G>A" "r.(?)" "p.(Gly1356Asp)" "" "0000322997" "00014308" "50" "4707" "11" "4707" "12" "c.4707+11_4707+12del" "r.(=)" "p.(=)" "" "0000322998" "00014308" "50" "4707" "12" "4707" "12" "c.4707+12del" "r.(=)" "p.(=)" "" "0000549179" "00014308" "50" "5275" "0" "5275" "0" "c.5275A>C" "r.(?)" "p.(Lys1759Gln)" "" "0000622974" "00014308" "30" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Leu173=)" "" "0000622975" "00014308" "50" "6782" "0" "6782" "0" "c.6782G>A" "r.(?)" "p.(Arg2261His)" "" "0000679650" "00014308" "30" "403" "0" "403" "0" "c.403C>G" "r.(?)" "p.(Gln135Glu)" "" "0000679651" "00014308" "50" "716" "0" "716" "0" "c.716C>A" "r.(?)" "p.(Ala239Glu)" "" "0000724238" "00014308" "50" "1549" "0" "1549" "0" "c.1549A>G" "r.(?)" "p.(Lys517Glu)" "" "0000724239" "00014308" "50" "2847" "0" "2849" "0" "c.2847_2849del" "r.(?)" "p.(Glu949del)" "" "0000980470" "00014308" "50" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Gln55*)" "" "0001039467" "00014308" "30" "3023" "0" "3023" "0" "c.3023G>A" "r.(?)" "p.(Ser1008Asn)" "" "0001039468" "00014308" "30" "4471" "0" "4471" "0" "c.4471C>A" "r.(?)" "p.(Leu1491Ile)" "" "0001094054" "00026128" "70" "6847" "0" "6847" "0" "c.6847C>T" "r.(?)" "p.(Arg2283Cys)" "" "0001094055" "00026128" "70" "6847" "0" "6847" "0" "c.6847C>T" "r.(?)" "p.(Arg2283Cys)" "" "0001094056" "00026128" "70" "3977" "0" "3977" "0" "c.3977G>A" "r.(?)" "p.(Ser1326Asn)" "" "0001094057" "00026128" "70" "3977" "0" "3977" "0" "c.3977G>A" "r.(?)" "p.(Ser1326Asn)" "" "0001094058" "00026128" "50" "5043" "0" "5043" "0" "c.5043C>G" "r.(?)" "p.(Ser1681Arg)" "" "0001094059" "00026128" "70" "4848" "0" "4849" "0" "c.4848_4849delAA" "r.(?)" "p.(Thr1617TyrfsTer9)" "" "0001094060" "00026128" "50" "3621" "0" "3621" "0" "c.3621dup" "r.(?)" "p.(Asp1208ArgfsTer58)" "" "0001094061" "00026128" "90" "996" "0" "996" "0" "c.996G>A" "r.(?)" "p.(Trp332Ter)" "" "0001094062" "00026128" "50" "6876" "0" "6876" "0" "c.6876G>A" "r.(?)" "p.(Trp2292Ter)" "" "0001094063" "00026128" "50" "6876" "0" "6876" "0" "c.6876G>A" "r.(?)" "p.(Trp2292Ter)" "" "0001094064" "00026128" "50" "6876" "0" "6876" "0" "c.6876G>A" "r.(?)" "p.(Trp2292Ter)" "" "0001094066" "00026128" "90" "6325" "0" "6325" "0" "c.6325C>T" "r.(?)" "p.(Gln2109Ter)" "" "0001094067" "00026128" "70" "243" "1" "243" "1" "c.243+1G>T" "r.spl" "p.?" "" "0001094068" "00026128" "90" "6577" "0" "6577" "0" "c.6577C>T" "r.(?)" "p.(Arg2193Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000489830" "0001094054" "0000489831" "0001094055" "0000489832" "0001094056" "0000489833" "0001094057" "0000489834" "0001094058" "0000489835" "0001094059" "0000489836" "0001094060" "0000489837" "0001094061" "0000489838" "0001094062" "0000489839" "0001094063" "0000489840" "0001094064" "0000489842" "0001094066" "0000489843" "0001094067" "0000489844" "0001094068"