### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARFGEF1) # 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}}" "ARFGEF1" "ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)" "8" "q13" "unknown" "NC_000008.10" "UD_136022294752" "" "https://www.LOVD.nl/ARFGEF1" "" "1" "15772" "10565" "604141" "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/ARFGEF1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-06-19 11:08:41" "00006" "2025-06-20 18:26:01" ## 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}}" "00002758" "ARFGEF1" "ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)" "001" "NM_006421.4" "" "NP_006412.2" "" "" "" "-390" "6835" "5550" "68255912" "68109884" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07167" "DEDISB" "developmental delay, impaired speech, and behavioral abnormalities, with/without seizures" "AD" "619964" "" "" "" "00006" "2025-06-19 11:09:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ARFGEF1" "05611" "ARFGEF1" "07167" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00465923" "" "" "" "1" "" "01164" "" "" "M" "no" "? (unknown)" "" "0" "" "" "" "332969" "00465936" "" "" "" "1" "" "00006" "{PMID:Teoh 2020:31678406}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "patient" "00465937" "" "" "" "1" "" "00006" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "France" "" "0" "" "" "" "Pat1" "00465938" "" "" "" "1" "" "00006" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "" "Pat2" "00465939" "" "" "" "1" "" "00006" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "" "Pat3" "00465940" "" "" "" "1" "" "00006" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "" "Pat4" "00465941" "" "" "" "1" "" "00006" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "" "Pat5" "00465942" "" "" "" "1" "" "00006" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "yes" "" "" "0" "" "" "" "Pat6" "00465943" "" "" "" "2" "" "00006" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "2-generation family, 2 affected (father/child)" "M" "no" "" "" "0" "" "" "" "Fam1Pat7" "00465944" "" "" "" "6" "" "00006" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "2-generation family, 6 affected (2F, 4M), son" "M" "no" "" "" "0" "" "" "" "Fam2Pat8" "00465945" "" "" "00465944" "1" "" "00006" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "daughter" "F" "no" "" "" "0" "" "" "" "Fam2Pat9" "00465946" "" "" "" "3" "" "00006" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "2-generation family, 3 affected (father2 sons)" "M" "no" "" "" "0" "" "" "" "Fam3Pat10" "00465947" "" "" "00465946" "1" "" "00006" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "son" "M" "no" "" "" "0" "" "" "" "Fam3Pat11" "00465948" "" "" "" "1" "" "00006" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "2-generation family, 1 affected" "M" "no" "" "" "0" "" "" "" "Pat12" "00465949" "" "" "" "1" "" "00006" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "2-generation family, 1 affected" "M" "no" "" "" "0" "" "" "" "Pat13" "00465950" "" "" "" "1" "" "00006" "{PMID:Xu 2022:35782386}, {DOI:Xu 2022:10.3389/fnmol.2022.862096}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "Pat1" "00465951" "" "" "" "1" "" "00006" "{PMID:Xu 2022:35782386}, {DOI:Xu 2022:10.3389/fnmol.2022.862096}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "Pat2" "00465952" "" "" "" "2" "" "00006" "{PMID:Xu 2022:35782386}, {DOI:Xu 2022:10.3389/fnmol.2022.862096}" "2-generation family, affected mother/son" "M" "" "China" "" "0" "" "" "" "Pat3" "00465953" "" "" "" "1" "" "00006" "{PMID:Xu 2022:35782386}, {DOI:Xu 2022:10.3389/fnmol.2022.862096}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "Pat4" "00465954" "" "" "" "1" "" "00006" "{PMID:Xu 2022:35782386}, {DOI:Xu 2022:10.3389/fnmol.2022.862096}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Pat5" "00465955" "" "" "" "1" "" "00006" "{PMID:DDD 2017:28135719}, {DOI:DDD 2017:10.1038/nature21062}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DDD4K.02432" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00465923" "00139" "00465936" "05521" "00465937" "05611" "00465938" "05611" "00465939" "05611" "00465940" "05611" "00465941" "05611" "00465942" "05611" "00465943" "05611" "00465944" "05611" "00465945" "05611" "00465946" "05611" "00465947" "05611" "00465948" "05611" "00465949" "05611" "00465950" "05611" "00465951" "05611" "00465952" "05611" "00465953" "05611" "00465954" "05611" "00465955" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05521, 05611, 07167 ## Count = 20 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000351323" "00139" "00465923" "01164" "Unknown" "04y" "Developmental regression, Autistic behavior, Macrotia, Prominent forehead" "" "" "" "" "" "" "" "" "" "0000351336" "05521" "00465936" "00006" "Isolated (sporadic)" "03y" "see paper; ..., 6m-seizures, infantile spasms; 3y-generalized convulsions, myoclonic seizures, tonic seizures, atonic seizures, global developmental delay, axial hypotonia, no speech, no meaningful vocalizations, unable to pull to stand, unable to support own weight; no dysmorphic features; EEG hypsarrhythmia, infantile spasms" "00y06m" "" "seizures" "" "" "" "" "DEDISB" "Lennox-Gastaut syndrome" "0000351337" "05611" "00465937" "00006" "Isolated (sporadic)" "6y" "see paper; ..., motor delay; speech delay; severe delay; behavioral problems; psychomotor agitation; moderate intellectual disability; cerebellar ataxia; no neurosensory disorders; MRI thin corpus callosum; wide mouth, high forehead, low-set ears; no epilepsy" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351338" "05611" "00465938" "00006" "Isolated (sporadic)" "10y" "see paper; ..., motor delay; speech delay; moderate delay; behavioral problems; autism spectrum disorders; mild intellectual disability; no neurological features; no neurosensory disorders; MRI mild myelination delay; frontal bossing, triangular face, facial hypertrichosis, pointed frontal hairline, thick eyebrows, short philtrum, protruding incisor teeth, generalized hirsutism, long face, wide mouth, low-set large ears; no epilepsy" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351339" "05611" "00465939" "00006" "Isolated (sporadic)" "14y" "see paper; ..., motor delay; speech delay; severe delay; no behavioral problems; Intellectual functions at lower limit; Impaired fine motor skills, slight balance disorder, left laryngeal paralysis; limitation abductionleft eye with strabismus; no neurosensory disorders; MRI occipital meningocele, disrupted superior cerebellar vermis, bilateral asymmetrical nodular heterotopias; no dysmorphic features; no epilepsy" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351340" "05611" "00465940" "00006" "Isolated (sporadic)" "11y" "see paper; ..., motor delay; speech delay; severe delay; behavioral problems; aggressivity, temper tantrums; moderate intellectual disability; no neurological features; no neurosensory disorders; MRI normal; no dysmorphic features; febrile seizures, generalized tonic–clonic seizures, atonic seizures, myoclonic and absence seizures, drug-resistant epilepsy" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351341" "05611" "00465941" "00006" "Isolated (sporadic)" "5y" "see paper; ..., motor delay; no speech delay; -; behavioral problems; hyperactivity, aggressivity, obsessive compulsive behaviors; no intellectual disability; hypotonia; no neurosensory disorders; MRI normal; no dysmorphic features; generalized tonic–clonic seizures, febrile seizures, myoclonic, atonic, drug-resistant epilepsy" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351342" "05611" "00465942" "00006" "Isolated (sporadic)" "3m" "see paper; ..., motor delay; speech delay; mild delay; behavioral problems; attention deficit–hyperactivity disorder; mild intellectual disability; no neurological features; hyperopia, high astigmatism; MRI normal; generalized tonic–clonic seizures" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351343" "05611" "00465943" "00006" "Familial, autosomal dominant" "9y" "see paper; ..., motor delay; speech delay; severe delay; behavioral problems; temper tantrums, anger bursts, severe psychomotor agitation, distractibility, attention disorders, enuresis, encopresis; moderate intellectual disability; Impaired fine and gross motor skills, balance disorders, dysarthria; no neurosensory disorders; MRI pineal cyst, low-set cerebellar tonsils; hypotonic long face, wide mouth, large ears, bulbous nose tip; generalized tonic–clonic seizures, febrile seizures, myoclonic, atonic" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351344" "05611" "00465944" "00006" "Familial, autosomal dominant" "11y" "see paper; ..., motor delay; speech delay; mild delay; behavioral problems; autism disorders, anxiety, aggressivity; mild intellectual disability; impaired fine motor skills, mild cerebellar ataxia, dysarthria; hyperopia; MRI subcortical white matter T2 signal hyperintensity congruent with myelination delay; high forehead, large ears; no epilepsy" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351345" "05611" "00465945" "00006" "Familial, autosomal dominant" "10y" "see paper; ..., no motor delay; speech delay; severe delay; behavioral problems; anxiety, attention disorders,; mild intellectual disability; action tremor; hyperopia, astigmatism; MRI subcortical white matter T2 signal hyperintensity congruent with myelination delay; high forehead, bulbous nose tip; no epilepsy" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351346" "05611" "00465946" "00006" "Familial, autosomal dominant" "13y" "see paper; ..., motor delay; speech delay; mild delay; behavioral problems; autism spectrum disorder, hyperactivity; moderate intellectual disability; no neurological features; no neurosensory disorders; brachycephaly, long and thin fingers, plagiocephaly, low-set large ears; no epilepsy" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351347" "05611" "00465947" "00006" "Familial, autosomal dominant" "11y" "see paper; ..., motor delay; speech delay; severe delay; behavioral problems; attention disorder; no intellectual disability; impaired fine motor skills; astigmatism, hyperopia; long and thin fingers, large ears; no epilepsy" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351348" "05611" "00465948" "00006" "Unknown" "32y" "see paper; ..., motor delay; speech delay; mild delay; behavioral problems; aggressive behavior, alcohol addiction; mild intellectual disability; no neurological features; strabismus; small and low-set ears, long and thin fingers; no epilepsy" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351349" "05611" "00465949" "00006" "Unknown" "10y" "see paper; ..., motor delay; speech delay; severe delay; behavioral problems; oppositional defiant disorder, aggressivity, attention deficit–hyperactivity disorder; mild intellectual disability; no neurological features; mild unilateral hearing impairment; MRI type 1 Arnold-Chiari malformation; no dysmorphic features; absence seizures" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351350" "05611" "00465950" "00006" "Isolated (sporadic)" "7m" "see paper; ..., speech delay; motor delay; no behavioural problems; intellectual disability; no neurological features; no neurosensory disorders; no facial dysmorphisms; epilepsy; MRI normal" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351351" "05611" "00465951" "00006" "Isolated (sporadic)" "2y" "see paper; ..., mild speech delay; mild motor delay; behavioural problems; mild intellectual disability; no neurological features; no neurosensory disorders; no facial dysmorphisms; epilepsy; MRI normal" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351352" "05611" "00465952" "00006" "Familial, autosomal dominant" "2y" "see paper; ..., birth hypoxia asphyxia; moderate speech delay; severe motor delay; autism spectrum disorder; intellectual disability; no neurosensory disorders; no facial dysmorphisms; epilepsy; MRI normal; EEG abnormal; mother has developmental delay and intellectual disability" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351353" "05611" "00465953" "00006" "Isolated (sporadic)" "3y" "see paper; ..., moderate speech delay; moderate motor delay; no behavioural problems; severe intellectual disability; no neurological features; strabismus; no facial dysmorphisms; epilepsy; MRI normal; EEG abnormal" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" "0000351354" "05611" "00465954" "00006" "Isolated (sporadic)" "2y" "see paper; ..., severe speech delay; severe motor delay; no behavioural problems; severe intellectual disability; no neurological features; no neurosensory disorders; no facial dysmorphisms; epilepsy; MRI abnormal; EEG abnormal" "" "" "" "" "" "" "" "DEDISB" "neurodegenerative delay" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000467575" "00465923" "1" "01164" "01164" "2025-06-18 16:07:10" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000467588" "00465936" "1" "00006" "00006" "2025-06-19 11:24:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467589" "00465937" "1" "00006" "00006" "2025-06-20 11:45:26" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES trio" "0000467590" "00465938" "1" "00006" "00006" "2025-06-20 11:45:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000467591" "00465939" "1" "00006" "00006" "2025-06-20 11:45:26" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES trio" "0000467592" "00465940" "1" "00006" "00006" "2025-06-20 11:45:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000467593" "00465941" "1" "00006" "00006" "2025-06-20 11:45:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000467594" "00465942" "1" "00006" "00006" "2025-06-20 11:45:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467595" "00465943" "1" "00006" "00006" "2025-06-20 11:45:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000467596" "00465944" "1" "00006" "00006" "2025-06-20 11:45:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467597" "00465945" "1" "00006" "00006" "2025-06-20 11:45:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467598" "00465946" "1" "00006" "00006" "2025-06-20 11:45:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000467599" "00465947" "1" "00006" "00006" "2025-06-20 11:45:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000467600" "00465948" "1" "00006" "00006" "2025-06-20 11:45:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467601" "00465949" "1" "00006" "00006" "2025-06-20 11:45:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES duo (mother)" "0000467602" "00465950" "1" "00006" "00006" "2025-06-20 18:05:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000467603" "00465951" "1" "00006" "00006" "2025-06-20 18:05:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000467604" "00465952" "1" "00006" "00006" "2025-06-20 18:05:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000467605" "00465953" "1" "00006" "00006" "2025-06-20 18:05:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000467606" "00465954" "1" "00006" "00006" "2025-06-20 18:05:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000467607" "00465955" "1" "00006" "00006" "2025-06-20 18:23:48" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000467575" "ARFGEF1" ## 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 = 58 "{{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}}" "0000246698" "0" "10" "8" "68105722" "68105722" "subst" "8.12902E-6" "02330" "CSPP1_000045" "g.68105722A>G" "" "" "" "CSPP1(NM_001291339.2):c.2304A>G (p.A768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67193487A>G" "" "benign" "" "0000246734" "0" "10" "8" "68092174" "68092174" "subst" "0.00707104" "02330" "CSPP1_000043" "g.68092174A>G" "" "" "" "CSPP1(NM_001291339.2):c.2170+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67179939A>G" "" "benign" "" "0000265044" "0" "10" "8" "68102949" "68102949" "subst" "0.000475247" "02330" "CSPP1_000044" "g.68102949C>T" "" "" "" "CSPP1(NM_001291339.2):c.2235C>T (p.P745=), CSPP1(NM_024790.6):c.3270C>T (p.P1090=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67190714C>T" "" "benign" "" "0000274502" "0" "30" "8" "68092106" "68092106" "subst" "0.00184514" "01943" "CSPP1_000042" "g.68092106T>C" "" "" "" "CSPP1(NM_001291339.1):c.2115T>C (p.D705=), CSPP1(NM_024790.6):c.3150T>C (p.D1050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67179871T>C" "" "likely benign" "" "0000332168" "0" "50" "8" "68130344" "68130344" "subst" "0" "01804" "ARFGEF1_000001" "g.68130344A>C" "" "" "" "ARFGEF1(NM_006421.4):c.4368T>G (p.(Asn1456Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67218109A>C" "" "VUS" "" "0000535260" "0" "30" "8" "68084684" "68084684" "subst" "0" "01943" "ARFGEF1_000002" "g.68084684T>C" "" "" "" "CSPP1(NM_001291339.1):c.1812T>C (p.D604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67172449T>C" "" "likely benign" "" "0000535261" "0" "10" "8" "68089904" "68089904" "subst" "0.00175027" "02330" "ARFGEF1_000003" "g.68089904A>G" "" "" "" "CSPP1(NM_001291339.2):c.2060-11A>G, CSPP1(NM_024790.6):c.3095-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67177669A>G" "" "benign" "" "0000535262" "0" "10" "8" "68092083" "68092083" "subst" "0.000353413" "02330" "ARFGEF1_000004" "g.68092083A>G" "" "" "" "CSPP1(NM_001291339.2):c.2107-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67179848A>G" "" "benign" "" "0000535263" "0" "50" "8" "68102960" "68102960" "subst" "6.09335E-5" "02330" "ARFGEF1_000005" "g.68102960A>G" "" "" "" "CSPP1(NM_001291339.2):c.2246A>G (p.E749G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67190725A>G" "" "VUS" "" "0000535264" "0" "30" "8" "68102977" "68102977" "subst" "0.0228737" "01804" "ARFGEF1_000006" "g.68102977T>C" "" "" "" "CSPP1(NM_024790.6):c.3298T>C (p.(Trp1100Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67190742T>C" "" "likely benign" "" "0000535265" "0" "30" "8" "68107640" "68107640" "subst" "0.00133263" "01804" "ARFGEF1_000007" "g.68107640C>T" "" "" "" "CSPP1(NM_001291339.1):c.2443C>T (p.P815S), CSPP1(NM_024790.6):c.3478C>T (p.P1160S, p.(Pro1160Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67195405C>T" "" "likely benign" "" "0000535266" "0" "30" "8" "68107653" "68107653" "subst" "0" "01804" "ARFGEF1_000008" "g.68107653T>C" "" "" "" "CSPP1(NM_024790.6):c.3491T>C (p.(Met1164Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67195418T>C" "" "likely benign" "" "0000535267" "0" "50" "8" "68107785" "68107785" "subst" "0.000182896" "01943" "ARFGEF1_000009" "g.68107785C>G" "" "" "" "CSPP1(NM_001291339.1):c.2588C>G (p.P863R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67195550C>G" "" "VUS" "" "0000535268" "0" "30" "8" "68107834" "68107834" "subst" "0.000550948" "02330" "ARFGEF1_000010" "g.68107834A>G" "" "" "" "CSPP1(NM_001291339.2):c.*6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67195599A>G" "" "likely benign" "" "0000622090" "0" "30" "8" "68107747" "68107747" "subst" "1.21948E-5" "02330" "ARFGEF1_000011" "g.68107747G>A" "" "" "" "CSPP1(NM_001363131.2):c.3519G>A (p.E1173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67195512G>A" "" "likely benign" "" "0000656146" "0" "90" "8" "68084791" "68084791" "subst" "8.18599E-6" "02330" "ARFGEF1_000012" "g.68084791G>T" "" "" "" "CSPP1(NM_001363131.2):c.2887+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67172556G>T" "" "pathogenic" "" "0000722080" "0" "30" "8" "68102949" "68102949" "subst" "0.000475247" "01943" "CSPP1_000044" "g.68102949C>T" "" "" "" "CSPP1(NM_001291339.2):c.2235C>T (p.P745=), CSPP1(NM_024790.6):c.3270C>T (p.P1090=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722081" "0" "30" "8" "68107640" "68107640" "subst" "0.00133263" "02326" "ARFGEF1_000007" "g.68107640C>T" "" "" "" "CSPP1(NM_001291339.1):c.2443C>T (p.P815S), CSPP1(NM_024790.6):c.3478C>T (p.P1160S, p.(Pro1160Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803735" "0" "30" "8" "68107640" "68107640" "subst" "0.00133263" "01943" "ARFGEF1_000007" "g.68107640C>T" "" "" "" "CSPP1(NM_001291339.1):c.2443C>T (p.P815S), CSPP1(NM_024790.6):c.3478C>T (p.P1160S, p.(Pro1160Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851989" "0" "30" "8" "68092106" "68092106" "subst" "0.00184514" "02326" "CSPP1_000042" "g.68092106T>C" "" "" "" "CSPP1(NM_001291339.1):c.2115T>C (p.D705=), CSPP1(NM_024790.6):c.3150T>C (p.D1050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861280" "0" "30" "8" "68089943" "68089943" "subst" "0.00362122" "02326" "ARFGEF1_000013" "g.68089943A>G" "" "" "" "CSPP1(NM_001382391.1):c.3138A>G (p.(Lys1046=)), CSPP1(NM_024790.6):c.3123A>G (p.K1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888439" "0" "30" "8" "68089904" "68089904" "subst" "0.00175027" "02326" "ARFGEF1_000003" "g.68089904A>G" "" "" "" "CSPP1(NM_001291339.2):c.2060-11A>G, CSPP1(NM_024790.6):c.3095-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912985" "0" "50" "8" "68152468" "68152468" "subst" "0" "02327" "ARFGEF1_000014" "g.68152468T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929473" "0" "50" "8" "68111234" "68111234" "subst" "0" "02327" "ARFGEF1_000015" "g.68111234G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949114" "0" "50" "8" "68131676" "68131676" "subst" "0" "02325" "ARFGEF1_000016" "g.68131676T>C" "" "" "" "ARFGEF1(NM_006421.5):c.4328A>G (p.Q1443R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949115" "0" "50" "8" "68214696" "68214696" "subst" "3.64973E-5" "02325" "ARFGEF1_000017" "g.68214696T>A" "" "" "" "ARFGEF1(NM_006421.5):c.130A>T (p.I44L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978269" "0" "30" "8" "68089943" "68089943" "subst" "0.00362122" "01804" "ARFGEF1_000013" "g.68089943A>G" "" "" "" "CSPP1(NM_001382391.1):c.3138A>G (p.(Lys1046=)), CSPP1(NM_024790.6):c.3123A>G (p.K1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978270" "0" "30" "8" "68107597" "68107597" "subst" "0.000187031" "02330" "ARFGEF1_000018" "g.68107597G>T" "" "" "" "CSPP1(NM_001382391.1):c.3470-20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978271" "0" "30" "8" "68138418" "68138418" "subst" "5.92455E-5" "01804" "ARFGEF1_000019" "g.68138418G>A" "" "" "" "ARFGEF1(NM_006421.5):c.3917C>T (p.(Thr1306Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978272" "0" "50" "8" "68140356" "68140356" "subst" "4.11753E-6" "01804" "ARFGEF1_000020" "g.68140356G>A" "" "" "" "ARFGEF1(NM_006421.5):c.3433C>T (p.(Arg1145Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997303" "0" "50" "8" "68123746" "68123748" "del" "0" "01804" "ARFGEF1_000021" "g.68123746_68123748del" "" "" "" "ARFGEF1(NM_006421.4):c.4793_4795delAAG (p.(Glu1598del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997304" "0" "50" "8" "68188211" "68188211" "subst" "8.14372E-6" "01804" "ARFGEF1_000022" "g.68188211T>C" "" "" "" "ARFGEF1(NM_006421.4):c.1337A>G (p.(Lys446Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997305" "0" "50" "8" "68204278" "68204278" "subst" "0" "02325" "ARFGEF1_000023" "g.68204278C>A" "" "" "" "ARFGEF1(NM_006421.5):c.720G>T (p.E240D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014462" "0" "50" "8" "68113802" "68113804" "del" "0" "02325" "ARFGEF1_000024" "g.68113802_68113804del" "" "" "" "ARFGEF1(NM_006421.5):c.5167_5169delGAG (p.E1723del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037034" "0" "30" "8" "68115482" "68115482" "subst" "8.96262E-5" "01804" "ARFGEF1_000025" "g.68115482T>C" "" "" "" "ARFGEF1(NM_006421.5):c.4964A>G (p.(Asp1655Gly), p.D1655G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037035" "0" "30" "8" "68115482" "68115482" "subst" "8.96262E-5" "02325" "ARFGEF1_000025" "g.68115482T>C" "" "" "" "ARFGEF1(NM_006421.5):c.4964A>G (p.(Asp1655Gly), p.D1655G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037036" "0" "30" "8" "68214710" "68214710" "subst" "3.17612E-5" "01804" "ARFGEF1_000026" "g.68214710A>G" "" "" "" "ARFGEF1(NM_006421.5):c.125-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045421" "0" "50" "8" "68165764" "68165764" "subst" "0" "01164" "ARFGEF1_000027" "g.68165764A>G" "" "" "" "" "ACMG: PM2-supporting,PP2-supporting,PP3-moderate" "Germline" "?" "" "0" "" "" "g.67253529A>G" "" "VUS" "ACMG" "0001045436" "0" "90" "8" "68130347" "68130347" "subst" "0" "00006" "ARFGEF1_000028" "g.68130347G>T" "" "{PMID:Teoh 2020:31678406}" "" "" "" "De novo" "" "" "0" "" "" "g.67218112G>T" "" "likely pathogenic (dominant)" "" "0001045438" "0" "90" "8" "68170369" "68170369" "subst" "0" "00006" "ARFGEF1_000041" "g.68170369C>T" "" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "" "" "variant observed to increase protein instability and degradation" "De novo" "" "" "0" "" "" "g.67258134C>T" "" "pathogenic (dominant)" "" "0001045439" "0" "90" "8" "68112696" "68112696" "subst" "0" "00006" "ARFGEF1_000030" "g.68112696G>A" "" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "" "" "" "De novo" "" "" "0" "" "" "g.67200461G>A" "" "pathogenic (dominant)" "" "0001045440" "0" "90" "8" "68139835" "68139835" "subst" "0" "00006" "ARFGEF1_000034" "g.68139835T>C" "" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "" "" "" "De novo" "" "" "0" "" "" "g.67227600T>C" "" "pathogenic (dominant)" "" "0001045441" "0" "90" "8" "68172128" "68172128" "del" "0" "00006" "ARFGEF1_000042" "g.68172128del" "" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "" "" "" "De novo" "" "" "0" "" "" "g.67259893del" "" "pathogenic (dominant)" "" "0001045442" "0" "90" "8" "68169969" "68169969" "subst" "0" "00006" "ARFGEF1_000039" "g.68169969G>A" "" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "" "C2524T" "" "De novo" "" "" "0" "" "" "g.67257734G>A" "" "pathogenic (dominant)" "" "0001045443" "0" "90" "8" "68152456" "68152457" "dup" "0" "00006" "ARFGEF1_000036" "g.68152456_68152457dup" "" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "" "" "" "De novo" "" "" "0" "" "" "g.67240221_67240222dup" "" "pathogenic (dominant)" "" "0001045444" "11" "90" "8" "68200213" "68200213" "del" "0" "00006" "ARFGEF1_000044" "g.68200213del" "" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "" "1006delA" "" "Germline" "" "" "0" "" "" "g.67287978del" "" "pathogenic (dominant)" "" "0001045445" "11" "90" "8" "68178422" "68178422" "subst" "0" "00006" "ARFGEF1_000043" "g.68178422G>A" "" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "" "" "" "Germline" "" "" "0" "" "" "g.67266187G>A" "" "pathogenic (dominant)" "" "0001045446" "11" "90" "8" "68178422" "68178422" "subst" "0" "00006" "ARFGEF1_000043" "g.68178422G>A" "" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "" "" "" "Germline" "" "" "0" "" "" "g.67266187G>A" "" "pathogenic (dominant)" "" "0001045447" "11" "90" "8" "68139728" "68139728" "subst" "4.07067E-6" "00006" "ARFGEF1_000033" "g.68139728G>A" "" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "" "" "" "Germline" "" "" "0" "" "" "g.67227493G>A" "" "pathogenic (dominant)" "" "0001045448" "11" "90" "8" "68139728" "68139728" "subst" "4.07067E-6" "00006" "ARFGEF1_000033" "g.68139728G>A" "" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "" "" "" "Germline" "" "" "0" "" "" "g.67227493G>A" "" "pathogenic (dominant)" "" "0001045449" "0" "90" "8" "68138302" "68138302" "subst" "0" "00006" "ARFGEF1_000032" "g.68138302G>A" "" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.67226067G>A" "" "pathogenic (dominant)" "" "0001045450" "0" "90" "8" "68170366" "68170366" "subst" "0" "00006" "ARFGEF1_000040" "g.68170366G>A" "" "{PMID:Thomas 2021:34113008}, {DOI:Thomas 2021:10.1038/s41436-021-01218-6}" "" "" "not inherited from mother" "Germline/De novo (untested)" "" "" "0" "" "" "g.67258131G>A" "" "pathogenic (dominant)" "" "0001045453" "0" "90" "8" "68163532" "68163532" "subst" "0" "00006" "ARFGEF1_000038" "g.68163532A>T" "" "{PMID:Xu 2022:35782386}, {DOI:Xu 2022:10.3389/fnmol.2022.862096}" "" "" "ACMG PVS1, PS2, PM2" "De novo" "" "" "0" "" "" "g.67251297A>T" "" "pathogenic (dominant)" "ACMG" "0001045454" "0" "90" "8" "68116923" "68116923" "del" "0" "00006" "ARFGEF1_000031" "g.68116923del" "" "{PMID:Xu 2022:35782386}, {DOI:Xu 2022:10.3389/fnmol.2022.862096}" "" "4951delG" "ACMG PVS1, PS2, PM2" "De novo" "" "" "0" "" "" "g.67204688del" "" "pathogenic (dominant)" "ACMG" "0001045455" "21" "70" "8" "68200301" "68200301" "subst" "0" "00006" "ARFGEF1_000045" "g.68200301C>A" "" "{PMID:Xu 2022:35782386}, {DOI:Xu 2022:10.3389/fnmol.2022.862096}" "" "" "ACMG PVS1, PM2 ; carries maternally inherited unspecified likely pathogenic variant in MECP2" "Germline" "" "" "0" "" "" "g.67288066C>A" "" "likely pathogenic (dominant)" "ACMG" "0001045456" "0" "70" "8" "68140250" "68140250" "subst" "0" "00006" "ARFGEF1_000035" "g.68140250A>C" "" "{PMID:Xu 2022:35782386}, {DOI:Xu 2022:10.3389/fnmol.2022.862096}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.67228015A>C" "" "likely pathogenic (dominant)" "ACMG" "0001045457" "0" "90" "8" "68152456" "68152457" "del" "0" "00006" "ARFGEF1_000037" "g.68152456_68152457del" "" "{PMID:Xu 2022:35782386}, {DOI:Xu 2022:10.3389/fnmol.2022.862096}" "" "2923_2924delCT" "ACMG PVS1, PS2, PM2; carries unspecified MECP2 missense variant (not inherited maternally)" "De novo" "" "" "0" "" "" "g.67240221_67240222del" "" "pathogenic (dominant)" "ACMG" "0001045458" "0" "70" "8" "68140272" "68140272" "subst" "0" "00006" "ARFGEF1_000029" "g.68140272A>G" "" "{PMID:DDD 2017:28135719}, {DOI:DDD 2017:10.1038/nature21062}" "" "" "ACMG PM1, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.67228037A>G" "" "likely pathogenic (dominant)" "" ## 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 ARFGEF1 ## Count = 58 "{{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}}" "0000246698" "00002758" "10" "10997" "0" "10997" "0" "c.*5447T>C" "r.(=)" "p.(=)" "" "0000246734" "00002758" "10" "24545" "0" "24545" "0" "c.*18995T>C" "r.(=)" "p.(=)" "" "0000265044" "00002758" "10" "13770" "0" "13770" "0" "c.*8220G>A" "r.(=)" "p.(=)" "" "0000274502" "00002758" "30" "24613" "0" "24613" "0" "c.*19063A>G" "r.(=)" "p.(=)" "" "0000332168" "00002758" "50" "4368" "0" "4368" "0" "c.4368T>G" "r.(?)" "p.(Asn1456Lys)" "" "0000535260" "00002758" "30" "32035" "0" "32035" "0" "c.*26485A>G" "r.(=)" "p.(=)" "" "0000535261" "00002758" "10" "26815" "0" "26815" "0" "c.*21265T>C" "r.(=)" "p.(=)" "" "0000535262" "00002758" "10" "24636" "0" "24636" "0" "c.*19086T>C" "r.(=)" "p.(=)" "" "0000535263" "00002758" "50" "13759" "0" "13759" "0" "c.*8209T>C" "r.(=)" "p.(=)" "" "0000535264" "00002758" "30" "13742" "0" "13742" "0" "c.*8192A>G" "r.(=)" "p.(=)" "" "0000535265" "00002758" "30" "9079" "0" "9079" "0" "c.*3529G>A" "r.(=)" "p.(=)" "" "0000535266" "00002758" "30" "9066" "0" "9066" "0" "c.*3516A>G" "r.(=)" "p.(=)" "" "0000535267" "00002758" "50" "8934" "0" "8934" "0" "c.*3384G>C" "r.(=)" "p.(=)" "" "0000535268" "00002758" "30" "8885" "0" "8885" "0" "c.*3335T>C" "r.(=)" "p.(=)" "" "0000622090" "00002758" "30" "8972" "0" "8972" "0" "c.*3422C>T" "r.(=)" "p.(=)" "" "0000656146" "00002758" "90" "31928" "0" "31928" "0" "c.*26378C>A" "r.(=)" "p.(=)" "" "0000722080" "00002758" "30" "13770" "0" "13770" "0" "c.*8220G>A" "r.(=)" "p.(=)" "" "0000722081" "00002758" "30" "9079" "0" "9079" "0" "c.*3529G>A" "r.(=)" "p.(=)" "" "0000803735" "00002758" "30" "9079" "0" "9079" "0" "c.*3529G>A" "r.(=)" "p.(=)" "" "0000851989" "00002758" "30" "24613" "0" "24613" "0" "c.*19063A>G" "r.(=)" "p.(=)" "" "0000861280" "00002758" "30" "26776" "0" "26776" "0" "c.*21226T>C" "r.(=)" "p.(=)" "" "0000888439" "00002758" "30" "26815" "0" "26815" "0" "c.*21265T>C" "r.(=)" "p.(=)" "" "0000912985" "00002758" "50" "2908" "0" "2908" "0" "c.2908A>C" "r.(?)" "p.(Thr970Pro)" "" "0000929473" "00002758" "50" "5485" "0" "5485" "0" "c.5485C>T" "r.(?)" "p.(Arg1829*)" "" "0000949114" "00002758" "50" "4328" "0" "4328" "0" "c.4328A>G" "r.(?)" "p.(Gln1443Arg)" "" "0000949115" "00002758" "50" "130" "0" "130" "0" "c.130A>T" "r.(?)" "p.(Ile44Leu)" "" "0000978269" "00002758" "30" "26776" "0" "26776" "0" "c.*21226T>C" "r.(=)" "p.(=)" "" "0000978270" "00002758" "30" "9122" "0" "9122" "0" "c.*3572C>A" "r.(=)" "p.(=)" "" "0000978271" "00002758" "30" "3917" "0" "3917" "0" "c.3917C>T" "r.(?)" "p.(Thr1306Ile)" "" "0000978272" "00002758" "50" "3433" "0" "3433" "0" "c.3433C>T" "r.(?)" "p.(Arg1145Cys)" "" "0000997303" "00002758" "50" "4793" "0" "4795" "0" "c.4793_4795del" "r.(?)" "p.(Glu1598del)" "" "0000997304" "00002758" "50" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Lys446Arg)" "" "0000997305" "00002758" "50" "720" "0" "720" "0" "c.720G>T" "r.(?)" "p.(Glu240Asp)" "" "0001014462" "00002758" "50" "5167" "0" "5169" "0" "c.5167_5169del" "r.(?)" "p.(Glu1723del)" "" "0001037034" "00002758" "30" "4964" "0" "4964" "0" "c.4964A>G" "r.(?)" "p.(Asp1655Gly)" "" "0001037035" "00002758" "30" "4964" "0" "4964" "0" "c.4964A>G" "r.(?)" "p.(Asp1655Gly)" "" "0001037036" "00002758" "30" "125" "-9" "125" "-9" "c.125-9T>C" "r.(=)" "p.(=)" "" "0001045421" "00002758" "50" "2620" "0" "2620" "0" "c.2620T>C" "r.(?)" "p.(Tyr874His)" "18" "0001045436" "00002758" "90" "4365" "0" "4365" "0" "c.4365C>A" "r.(4365C>A)" "p.(Cys1455Ter)" "" "0001045438" "00002758" "90" "2392" "0" "2392" "0" "c.2392G>A" "r.2392G>A" "p.Asp798Asn" "" "0001045439" "00002758" "90" "5320" "0" "5320" "0" "c.5320C>T" "r.(?)" "p.(Arg1774Ter)" "" "0001045440" "00002758" "90" "3592" "-2" "3592" "-2" "c.3592-2A>G" "r.3592_3743del" "p.gly1199SerfsTer21" "22i" "0001045441" "00002758" "90" "2158" "0" "2158" "0" "c.2158del" "r.(?)" "p.(Leu720SerfsTer24)" "" "0001045442" "00002758" "90" "2524" "0" "2524" "0" "c.2524C>T" "r.(?)" "p.(Gln842Ter)" "" "0001045443" "00002758" "90" "2923" "0" "2924" "0" "c.2923_2924dup" "r.(?)" "p.(Cys976PhefsTer6)" "" "0001045444" "00002758" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Met336TrpfsTer2)" "" "0001045445" "00002758" "90" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Gln648Ter)" "" "0001045446" "00002758" "90" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Gln648Ter)" "" "0001045447" "00002758" "90" "3697" "0" "3697" "0" "c.3697C>T" "r.(?)" "p.(Gln1233Ter)" "" "0001045448" "00002758" "90" "3697" "0" "3697" "0" "c.3697C>T" "r.(?)" "p.(Gln1233Ter)" "" "0001045449" "00002758" "90" "4033" "0" "4033" "0" "c.4033C>T" "r.(?)" "p.(Arg1345Ter)" "" "0001045450" "00002758" "90" "2395" "0" "2395" "0" "c.2395C>T" "r.(?)" "p.(Arg799Ter)" "" "0001045453" "00002758" "90" "2850" "2" "2850" "2" "c.2850+2T>A" "r.spl" "p.?" "" "0001045454" "00002758" "90" "4951" "0" "4951" "0" "c.4951del" "r.(?)" "p.(Ala1651GlnfsTer24)" "" "0001045455" "00002758" "70" "917" "-1" "917" "-1" "c.917-1G>T" "r.spl" "p.?" "" "0001045456" "00002758" "70" "3539" "0" "3539" "0" "c.3539T>G" "r.(?)" "p.(Ile1180Arg)" "" "0001045457" "00002758" "90" "2923" "0" "2924" "0" "c.2923_2924del" "r.(?)" "p.(Cys976ProfsTer41)" "" "0001045458" "00002758" "70" "3517" "0" "3517" "0" "c.3517T>C" "r.(?)" "p.(Ser1173Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000467575" "0001045421" "0000467588" "0001045436" "0000467589" "0001045438" "0000467590" "0001045439" "0000467591" "0001045440" "0000467592" "0001045441" "0000467593" "0001045442" "0000467594" "0001045443" "0000467595" "0001045444" "0000467596" "0001045445" "0000467597" "0001045446" "0000467598" "0001045447" "0000467599" "0001045448" "0000467600" "0001045449" "0000467601" "0001045450" "0000467602" "0001045453" "0000467603" "0001045454" "0000467604" "0001045455" "0000467605" "0001045456" "0000467606" "0001045457" "0000467607" "0001045458"