### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FRA10AC1) # 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}}" "FRA10AC1" "fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1" "10" "q23.33" "unknown" "NC_000010.10" "UD_132118222351" "" "http://www.LOVD.nl/FRA10AC1" "" "1" "1162" "118924" "608866" "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/FRA10AC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-12-18 19:30:49" "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}}" "00008127" "FRA10AC1" "fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1" "001" "NM_145246.4" "" "NP_660289.2" "" "" "" "-198" "2891" "948" "95462329" "95427640" "" "0000-00-00 00:00:00" "" "" ## 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" "07143" "NEDGFC" "neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities" "AR" "620113" "" "" "" "00006" "2024-12-18 19:30:30" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FRA10AC1" "05611" "FRA10AC1" "07143" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00458561" "" "" "" "1" "" "00006" "{PMID:von Elsner 2022:34694367}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (first degree cousins)" "F" "yes" "" "" "0" "" "" "Arab" "Fam1Pat1" "00458562" "" "" "" "1" "" "00006" "{PMID:von Elsner 2022:34694367}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (first degree cousins)" "F" "yes" "" "" "0" "" "" "Arab" "Fam2Pat2" "00458563" "" "" "" "3" "" "00006" "{PMID:von Elsner 2022:34694367}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier parents (2nd degree cousins)" "M" "yes" "Egypt" "" "0" "" "" "Arab" "Fam3Pat3-1" "00458564" "" "" "00458563" "1" "" "00006" "{PMID:von Elsner 2022:34694367}" "brother" "M" "yes" "Egypt" "" "0" "" "" "Arab" "Fam3Pat3-2" "00458565" "" "" "00458563" "1" "" "00006" "{PMID:von Elsner 2022:34694367}" "brother" "M" "yes" "Egypt" "" "0" "" "" "Arab" "Fam3Pat3-3" "00458566" "" "" "" "2" "" "00006" "{PMID:Banka 2022:35871492}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1Pat1" "00458567" "" "" "00458566" "1" "" "00006" "{PMID:Banka 2022:35871492}" "sister" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1Pat2" "00458568" "" "" "" "1" "" "00006" "{PMID:Banka 2022:35871492}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2Pat1" "00458569" "" "" "" "2" "" "00006" "{PMID:Alsaleh 2022:35821753}" "4-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Saudi Arabia" "" "0" "" "" "" "family" "00459419" "" "" "" "1" "" "00006" "{PMID:Bayam 2024:39609633}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Italy" "" "0" "" "" "Cilento" "Fam4PatII1" "00459420" "" "" "" "1" "" "00006" "{PMID:Bayam 2024:39609633}" "sister" "F" "yes" "Italy" "" "0" "" "" "Cilento" "Fam4PatII3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00458561" "05611" "00458562" "05611" "00458563" "05611" "00458564" "05611" "00458565" "05611" "00458566" "05611" "00458567" "05611" "00458568" "05611" "00458569" "05611" "00459419" "05611" "00459420" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611, 07143 ## Count = 11 "{{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/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000346992" "05611" "00458561" "00006" "Familial, autosomal recessive" "3y1m" "see paper; ..., height 85cm (Z-2.8), weight 9.4kg (Z-3.4), OFC 45cm (Z-4.1); severe motor delay, nonambulatory; profound intellectual disability; severe muscular hypotonia; seizures; corpus callosum agenesis, mild hydrocephalus internus; craniofacial dysmorphism; short sternum; contracture of left elbow; ulnar deviation of left hand; proximal placement of thumbs; bilateral 5th finger clinodactyly; feeding problems; gastric feeding tube; recurrent airway infections" "" "" "" "" "" "" "NEDGFC" "neurodevelopmental disorder" "0000346993" "05611" "00458562" "00006" "Familial, autosomal recessive" "9y" "see paper; ..., height 109cm (Z-4.3), weight 15kg (Z-5.3), OFC 47cm (Z-4.8); moderatemotor delay, 3y-walk; profound intellectual disability( IQ35); muscular hypotonia; no seizures; behavioural problems; partial agenesis corpus callosum,colpocephaly, unilateral retroorbital cyst; craniofacial dysmorphism; bilateral 5th finger clinodactyly; feeding problems; early childhood recurrent airway infections" "" "" "" "" "" "" "NEDGFC" "neurodevelopmental disorder" "0000346994" "05611" "00458563" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., height 134cm (Z-4.8), weight 32kg (Z-3.9), OFC 50.3cm (Z-3.8); no motor delay; mild intellectual disability (IQ68); muscular hypotonia; no seizures; no behavioural problems; thin stretched corpus callosum; craniofacial dysmorphism; clinodactyly 4th/5th toes; growth hormone deficiency; anaemia" "" "" "" "" "" "" "NEDGFC" "neurodevelopmental disorder" "0000346995" "05611" "00458564" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., height 113.5cm (Z-4.2), weight 20.5kg (Z-3.6), OFC 49.4cm (Z-3.1); motor delay during infancy; borderline intellectual disability (IQ77); muscular hypotonia; no seizures; no behavioural problems; thin stretched corpus callosum; craniofacial dysmorphism; clinodactyly 4th/5th toes; growth hormone deficiency" "" "" "" "" "" "" "NEDGFC" "neurodevelopmental disorder" "0000346996" "05611" "00458565" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., height 109cm (Z-2.9), weight 19kg (Z-1.8), OFC 50cm (Z-2.0); no motor delay; borderline intellectual disability (IQ77); muscular hypotonia; no seizures; no behavioural problems; thin stretched corpus callosum; craniofacial dysmorphism; clinodactyly 4th/5th toes" "" "" "" "" "" "" "NEDGFC" "neurodevelopmental disorder" "0000346997" "05611" "00458566" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., normal pregnancy; global developmental delay, mild motor delay, moderate intellectual disability, 2y-first words, no regression, growth impairment, congenital malformations, cranofacial dysmorphism; atrial septal defect; ventricular septum defect; no feeding difficulties; height (-1.6); myopia, esotropia" "" "" "" "" "" "" "NEDGFC" "global developmental delay" "0000346998" "05611" "00458567" "00006" "Familial, autosomal recessive" "21y" "see paper; ..., neonatal feeding problems; global developmental delay, moderate motor delay, moderate intellectual disability, 4y-first words, no regression, growth impairment, congenital malformations, cranofacial dysmorphism; cleft palate; infancy feeding difficulties; height (-3.6); minor skeletal anomalies, umbilical hernia, mild sensorineural hearing loss" "" "" "" "" "" "" "NEDGFC" "global developmental delay," "0000346999" "05611" "00458568" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., neonatal feeding problems, hypotonia; birth weight (-5.1); global developmental delay, moderate-severe motor delay, moderate-severe intellectual disability, 5y-first words, no regression, growth impairment, congenital malformations, cranofacial dysmorphism; atrial septal defect, ventricular septum defect, hypoplastic descending aorta; infancy feeding difficulties; Nissen fundoplication; percutaneous gastrostomy; 9y-absence seizures, knee dislocations" "" "" "" "" "" "" "NEDGFC" "global developmental delay" "0000347000" "05611" "00458569" "00006" "Familial, autosomal recessive" "" "see paper; ..., dysmorphic features, failure to thrive, global developmental delay, generalized hypotonia, feeding problems, congenital heart disease, , growth retardation" "" "" "" "" "" "" "NEDGFC" "global developmental delay, growth retardation" "0000347495" "05611" "00459419" "00006" "Familial, autosomal recessive" "1y5m" "see paperp; C-section due to failure dilatation uterine cervix; birth 40w, elective C-section, weight 3.52kg, length 52cm, OFC 35cm; weight 8,6kg (-1 SD), length 78cm (+1.5 SD), OFC 42.9cm (-2.69 SD); profound global development delay; bedridden; speech global hyporeactivity; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347496" "05611" "00459420" "00006" "Familial, autosomal recessive" "6m" "see paper; ..., pregnancy unremarkable; birth 40w, elective C-section, weight 3.35kg, length 51cm, OFC 35cm; weight 5kg (-1 SD), length 70cm (+1 SD), OFC 40cm (-1.93 SD); profound global development dela; bedridden; speech no meaningful words; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000460182" "00458561" "1" "00006" "00006" "2024-12-18 21:38:12" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000460183" "00458562" "1" "00006" "00006" "2024-12-18 21:38:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460184" "00458563" "1" "00006" "00006" "2024-12-18 21:38:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460185" "00458564" "1" "00006" "00006" "2024-12-18 21:38:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460186" "00458565" "1" "00006" "00006" "2024-12-18 21:38:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460187" "00458566" "1" "00006" "00006" "2024-12-18 21:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460188" "00458567" "1" "00006" "00006" "2024-12-18 21:56:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460189" "00458568" "1" "00006" "00006" "2024-12-18 22:04:32" "" "" "arrayCGH;PCR;SEQ" "DNA" "" "" "0000460190" "00458569" "1" "00006" "00006" "2024-12-18 22:22:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461042" "00459419" "1" "00006" "00006" "2024-12-27 14:26:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461043" "00459420" "1" "00006" "00006" "2024-12-27 14:26:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000460189" "FRA10AC1" ## 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 = 24 "{{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}}" "0000246947" "0" "30" "10" "95422918" "95422918" "subst" "0.00231982" "02330" "PDE6C_000031" "g.95422918A>G" "" "" "" "PDE6C(NM_006204.3):c.2501A>G (p.E834G), PDE6C(NM_006204.4):c.2501A>G (p.E834G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93663161A>G" "" "likely benign" "" "0000293627" "0" "10" "10" "95422883" "95422883" "subst" "0.00114827" "02330" "PDE6C_000023" "g.95422883G>A" "" "" "" "PDE6C(NM_006204.3):c.2466G>A (p.K822=), PDE6C(NM_006204.4):c.2466G>A (p.K822=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93663126G>A" "" "benign" "" "0000293628" "0" "30" "10" "95422894" "95422894" "subst" "0.000480566" "02330" "PDE6C_000024" "g.95422894T>C" "" "" "" "PDE6C(NM_006204.4):c.2477T>C (p.I826T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93663137T>C" "" "likely benign" "" "0000305368" "0" "10" "10" "95422883" "95422883" "subst" "0.00114827" "01943" "PDE6C_000023" "g.95422883G>A" "" "" "" "PDE6C(NM_006204.3):c.2466G>A (p.K822=), PDE6C(NM_006204.4):c.2466G>A (p.K822=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93663126G>A" "" "benign" "" "0000305369" "0" "30" "10" "95422929" "95422929" "subst" "8.99832E-5" "01943" "PDE6C_000032" "g.95422929G>A" "" "" "" "PDE6C(NM_006204.3):c.2512G>A (p.E838K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93663172G>A" "" "likely benign" "" "0000343369" "0" "50" "10" "95422795" "95422795" "subst" "0" "02327" "PDE6C_000030" "g.95422795G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93663038G>A" "" "VUS" "" "0000541673" "0" "10" "10" "95422842" "95422842" "subst" "0.00126659" "02330" "PDE6C_000156" "g.95422842A>C" "" "" "" "PDE6C(NM_006204.3):c.2425A>C (p.R809=), PDE6C(NM_006204.4):c.2425A>C (p.R809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93663085A>C" "" "benign" "" "0000541674" "0" "30" "10" "95422842" "95422842" "subst" "0.00126659" "01943" "PDE6C_000156" "g.95422842A>C" "" "" "" "PDE6C(NM_006204.3):c.2425A>C (p.R809=), PDE6C(NM_006204.4):c.2425A>C (p.R809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93663085A>C" "" "likely benign" "" "0000541675" "0" "10" "10" "95422898" "95422898" "subst" "2.03638E-5" "02330" "PDE6C_000157" "g.95422898A>G" "" "" "" "PDE6C(NM_006204.4):c.2481A>G (p.E827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93663141A>G" "" "benign" "" "0000612821" "0" "50" "10" "95422806" "95422806" "subst" "0" "02330" "PDE6C_000158" "g.95422806G>A" "" "" "" "PDE6C(NM_006204.4):c.2389G>A (p.E797K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93663049G>A" "" "VUS" "" "0000656605" "0" "50" "10" "95422918" "95422918" "subst" "0.00231982" "01943" "PDE6C_000031" "g.95422918A>G" "" "" "" "PDE6C(NM_006204.3):c.2501A>G (p.E834G), PDE6C(NM_006204.4):c.2501A>G (p.E834G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93663161A>G" "" "VUS" "" "0000723029" "0" "30" "10" "95422803" "95422803" "subst" "6.92747E-5" "01943" "PDE6C_000159" "g.95422803A>G" "" "" "" "PDE6C(NM_006204.3):c.2386A>G (p.K796E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001019176" "3" "90" "10" "95459757" "95462676" "del" "0" "00006" "FRA10AC1_000004" "g.95459757_95462676del" "" "{PMID:von Elsner 2022:34694367}" "" "" "" "Germline" "" "" "0" "" "" "g.93700000_93702919del" "" "pathogenic (recessive)" "" "0001019177" "3" "90" "10" "95445066" "95445067" "ins" "0" "00006" "FRA10AC1_000006" "g.95445066_95445067insTAAA" "" "{PMID:von Elsner 2022:34694367}" "" "" "" "Germline" "" "" "0" "" "" "g.93685309_93685310insTAAA" "" "pathogenic (recessive)" "" "0001019178" "3" "90" "10" "95447179" "95447181" "del" "0" "00006" "FRA10AC1_000005" "g.95447179_95447181del" "" "{PMID:von Elsner 2022:34694367}" "" "" "" "Germline" "" "" "0" "" "" "g.93687422_93687424del" "" "pathogenic (recessive)" "" "0001019179" "3" "90" "10" "95447179" "95447181" "del" "0" "00006" "FRA10AC1_000005" "g.95447179_95447181del" "" "{PMID:von Elsner 2022:34694367}" "" "" "" "Germline" "" "" "0" "" "" "g.93687422_93687424del" "" "pathogenic (recessive)" "" "0001019180" "3" "90" "10" "95447179" "95447181" "del" "0" "00006" "FRA10AC1_000005" "g.95447179_95447181del" "" "{PMID:von Elsner 2022:34694367}" "" "" "" "Germline" "" "" "0" "" "" "g.93687422_93687424del" "" "pathogenic (recessive)" "" "0001019181" "3" "90" "10" "95452455" "95452455" "subst" "3.10799E-5" "00006" "FRA10AC1_000001" "g.95452455G>A" "" "{PMID:Banka 2022:35871492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93692698G>A" "" "pathogenic (recessive)" "" "0001019182" "3" "90" "10" "95452455" "95452455" "subst" "3.10799E-5" "00006" "FRA10AC1_000001" "g.95452455G>A" "" "{PMID:Banka 2022:35871492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93692698G>A" "" "pathogenic (recessive)" "" "0001019183" "3" "90" "10" "95455431" "95468149" "delins" "0" "00006" "FRA10AC1_000002" "g.95455431_95468149delinsTTAGTACAC" "" "{PMID:Banka 2022:35871492}" "" "del ex1-4" "" "Germline" "" "" "0" "" "" "g.93695674_93708392delinsTTAGTACAC" "" "pathogenic (recessive)" "" "0001019184" "3" "90" "10" "95447191" "95447191" "subst" "0" "00006" "FRA10AC1_000003" "g.95447191G>A" "" "{PMID:Alsaleh 2022:35821753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93687434G>A" "" "pathogenic (recessive)" "" "0001020123" "0" "50" "10" "95445078" "95445078" "subst" "0" "00006" "FRA10AC1_000007" "g.95445078C>G" "" "{PMID:Bayam 2024:39609633}" "" "" "gene related to recessive neurodevelopmental disorders; variant in low expressed isoform" "Germline" "" "" "0" "" "" "g.93685321C>G" "" "VUS" "" "0001020133" "0" "50" "10" "95445078" "95445078" "subst" "0" "00006" "FRA10AC1_000007" "g.95445078C>G" "" "{PMID:Bayam 2024:39609633}" "" "" "gene related to recessive neurodevelopmental disorders; variant in low expressed isoform" "Germline" "" "" "0" "" "" "g.93685321C>G" "" "VUS" "" "0001038110" "0" "30" "10" "95458153" "95458153" "subst" "0.000893414" "01804" "FRA10AC1_000008" "g.95458153C>G" "" "" "" "FRA10AC1(NM_145246.5):c.78G>C (p.(Arg26Ser))" "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 FRA10AC1 ## Count = 24 "{{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}}" "0000246947" "00008127" "30" "7613" "0" "7613" "0" "c.*6665T>C" "r.(=)" "p.(=)" "" "0000293627" "00008127" "10" "7648" "0" "7648" "0" "c.*6700C>T" "r.(=)" "p.(=)" "" "0000293628" "00008127" "30" "7637" "0" "7637" "0" "c.*6689A>G" "r.(=)" "p.(=)" "" "0000305368" "00008127" "10" "7648" "0" "7648" "0" "c.*6700C>T" "r.(=)" "p.(=)" "" "0000305369" "00008127" "30" "7602" "0" "7602" "0" "c.*6654C>T" "r.(=)" "p.(=)" "" "0000343369" "00008127" "50" "7736" "0" "7736" "0" "c.*6788C>T" "r.(=)" "p.(=)" "" "0000541673" "00008127" "10" "7689" "0" "7689" "0" "c.*6741T>G" "r.(=)" "p.(=)" "" "0000541674" "00008127" "30" "7689" "0" "7689" "0" "c.*6741T>G" "r.(=)" "p.(=)" "" "0000541675" "00008127" "10" "7633" "0" "7633" "0" "c.*6685T>C" "r.(=)" "p.(=)" "" "0000612821" "00008127" "50" "7725" "0" "7725" "0" "c.*6777C>T" "r.(=)" "p.(=)" "" "0000656605" "00008127" "50" "7613" "0" "7613" "0" "c.*6665T>C" "r.(=)" "p.(=)" "" "0000723029" "00008127" "30" "7728" "0" "7728" "0" "c.*6780T>C" "r.(=)" "p.(=)" "" "0001019176" "00008127" "90" "-543" "0" "77" "32" "c.-543_77+32del" "r.0?" "p.0?" "_1_2i" "0001019177" "00008127" "90" "561" "0" "562" "0" "c.561_562insTTTA" "r.(?)" "p.(Ser188PhefsTer6)" "" "0001019178" "00008127" "90" "494" "0" "496" "0" "c.494_496del" "r.(?)" "p.(Glu165del)" "" "0001019179" "00008127" "90" "494" "0" "496" "0" "c.494_496del" "r.(?)" "p.(Glu165del)" "" "0001019180" "00008127" "90" "494" "0" "496" "0" "c.494_496del" "r.(?)" "p.(Glu165del)" "" "0001019181" "00008127" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0001019182" "00008127" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0001019183" "00008127" "90" "-6018" "0" "220" "-737" "c.-6018_220-737delinsGTGTACTAA" "r.0" "p.0" "_1_4i" "0001019184" "00008127" "90" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Arg161*)" "" "0001020123" "00008127" "50" "550" "0" "550" "0" "c.550G>C" "r.(?)" "p.(Glu184Gln)" "" "0001020133" "00008127" "50" "550" "0" "550" "0" "c.550G>C" "r.(?)" "p.(Glu184Gln)" "" "0001038110" "00008127" "30" "78" "0" "78" "0" "c.78G>C" "r.(?)" "p.(Arg26Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000460182" "0001019176" "0000460183" "0001019177" "0000460184" "0001019178" "0000460185" "0001019179" "0000460186" "0001019180" "0000460187" "0001019181" "0000460188" "0001019182" "0000460189" "0001019183" "0000460190" "0001019184" "0000461042" "0001020123" "0000461043" "0001020133"