### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PHACTR1) # 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}}" "PHACTR1" "phosphatase and actin regulator 1" "6" "p23" "unknown" "NC_000006.11" "UD_134753621366" "" "https://www.LOVD.nl/PHACTR1" "" "1" "20990" "221692" "608723" "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/PHACTR1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2020-11-05 11:48:33" "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}}" "00025573" "PHACTR1" "transcript variant 1" "002" "NM_030948.2" "" "NP_112210.1" "" "" "" "-373" "2508" "1743" "12717037" "13288075" "00006" "2020-11-05 11:49:54" "" "" ## 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" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04217" "WEST" "West syndrome (WEST, epileptic encephalopathy, early infantile)" "" "" "" "" "" "00006" "2015-03-06 11:05:39" "" "" "05871" "EIEE70" "encephalopathy, epileptic, early infantile, type 70 (EIEE70)" "AD" "618298" "" "" "" "00006" "2020-11-05 11:47:54" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PHACTR1" "00841" "PHACTR1" "05871" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00183075" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio90" "00317979" "" "" "" "1" "" "00006" "{PMID:Hamada 2018:30256902}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Japan" "" "0" "" "" "" "Fam1Pat1" "00317980" "" "" "" "1" "" "00006" "{PMID:Hamada 2018:30256902}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "Fam2Pat2" "00319921" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Pakistan" "" "0" "" "" "Pathan" "PKMR51b" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00183075" "00139" "00317979" "04217" "00317980" "04217" "00319921" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00841, 01157, 04217, 05871 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "0000143828" "00139" "00183075" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "0000241763" "04217" "00317979" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "West syndrome" "0000241764" "04217" "00317980" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "West syndrome" "0000242023" "00139" "00319921" "00006" "Familial, autosomal recessive" "" "severe intellectual disability, speech delay, severe hypotonia, attention deficit hyperactivity disorder, inability to hold head, stand or walk" "" "" "" "" "" "" "" "" "" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000184035" "00183075" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000319161" "00317979" "1" "00006" "00006" "2020-11-05 12:31:45" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000319162" "00317980" "1" "00006" "00006" "2020-11-05 13:11:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000321102" "00319921" "1" "00006" "00006" "2020-11-10 17:13:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000319161" "PHACTR1" "0000319162" "PHACTR1" "0000321102" "CPT1B" "0000321102" "PHACTR1" ## 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 = 47 "{{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}}" "0000004290" "3" "50" "6" "13190247" "13190247" "subst" "0" "00037" "PHACTR1_000001" "g.13190247C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.13190015C>T" "" "VUS" "" "0000249080" "0" "10" "6" "13288648" "13288648" "subst" "0.85246" "02325" "PHACTR1_000002" "g.13288648A>G" "" "" "" "TBC1D7-LOC100130357(NM_001318809.2):c.*39+16646T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13288416A>G" "" "benign" "" "0000253445" "0" "10" "6" "13316805" "13316805" "subst" "0.0310156" "01943" "TBC1D7_000004" "g.13316805A>G" "" "" "" "TBC1D7(NM_001143964.2):c.517T>C (p.(=)), TBC1D7(NM_016495.5):c.517T>C (p.L173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13316573A>G" "" "benign" "" "0000253616" "0" "10" "6" "13321321" "13321321" "subst" "0.00409163" "01943" "TBC1D7_000009" "g.13321321A>C" "" "" "" "TBC1D7(NM_001143964.2):c.200T>G (p.(Leu67Trp)), TBC1D7(NM_016495.5):c.200T>G (p.L67W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13321089A>C" "" "benign" "" "0000256580" "0" "50" "6" "13316876" "13316876" "subst" "0.000690316" "01943" "TBC1D7_000006" "g.13316876A>G" "" "" "" "TBC1D7(NM_016495.5):c.446T>C (p.V149A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13316644A>G" "" "VUS" "" "0000314407" "0" "90" "6" "13316856" "13316856" "subst" "8.1217E-6" "02326" "TBC1D7_000005" "g.13316856G>A" "" "" "" "TBC1D7(NM_016495.6):c.466C>T (p.R156*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13316624G>A" "" "pathogenic" "" "0000316267" "0" "50" "6" "13321202" "13321202" "subst" "0" "01943" "TBC1D7_000008" "g.13321202C>T" "" "" "" "TBC1D7(NM_001318806.1):c.238G>A (p.V80I), TBC1D7(NM_016495.4):c.319G>A (p.(Val107Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13320970C>T" "" "VUS" "" "0000316268" "0" "50" "6" "13316910" "13316910" "subst" "0" "01943" "TBC1D7_000007" "g.13316910C>T" "" "" "" "TBC1D7(NM_016495.4):c.412G>A (p.(Ala138Thr)), TBC1D7(NM_016495.5):c.412G>A (p.A138T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13316678C>T" "" "VUS" "" "0000316269" "0" "30" "6" "13307909" "13307909" "subst" "0.000325243" "01943" "TBC1D7_000003" "g.13307909G>A" "" "" "" "TBC1D7(NM_016495.5):c.588C>T (p.S196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13307677G>A" "" "likely benign" "" "0000316270" "0" "10" "6" "13307903" "13307903" "subst" "0.00356158" "01943" "TBC1D7_000002" "g.13307903C>T" "" "" "" "TBC1D7(NM_016495.5):c.594G>A (p.A198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13307671C>T" "" "benign" "" "0000316271" "0" "30" "6" "13305407" "13305407" "subst" "4.06263E-6" "01943" "TBC1D7_000014" "g.13305407T>C" "" "" "" "TBC1D7(NM_016495.5):c.808A>G (p.S270G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13305175T>C" "" "likely benign" "" "0000316272" "0" "10" "6" "13305345" "13305345" "subst" "0.00454832" "01943" "TBC1D7_000013" "g.13305345G>C" "" "" "" "TBC1D7(NM_016495.5):c.870C>G (p.V290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13305113G>C" "" "benign" "" "0000330815" "0" "50" "6" "13325355" "13325355" "subst" "4.0653E-6" "01804" "TBC1D7_000010" "g.13325355T>A" "" "" "" "TBC1D7(NM_001143964.2):c.164A>T (p.(Tyr55Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13325123T>A" "" "VUS" "" "0000330816" "0" "50" "6" "13325357" "13325357" "subst" "4.0653E-6" "01804" "TBC1D7_000011" "g.13325357C>G" "" "" "" "TBC1D7(NM_001143964.2):c.162G>C (p.(Met54Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13325125C>G" "" "VUS" "" "0000330817" "0" "50" "6" "13325368" "13325368" "subst" "0" "01804" "TBC1D7_000012" "g.13325368G>A" "" "" "" "TBC1D7(NM_001143964.2):c.151C>T (p.(Leu51Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13325136G>A" "" "VUS" "" "0000407973" "0" "70" "6" "13283705" "13283705" "subst" "1.62496E-5" "00006" "PHACTR1_000003" "g.13283705C>T" "" "{PMID:de Ligt 2012:23033978}" "" "NM_030948.1:c.1561C>T (Arg521Cys)" "candidate variant" "De novo" "" "" "0" "" "" "g.13283473C>T" "" "likely pathogenic" "" "0000527193" "0" "50" "6" "13053621" "13053621" "subst" "0" "01804" "PHACTR1_000005" "g.13053621C>T" "" "" "" "PHACTR1(NM_001242648.1):c.275C>T (p.(Ala92Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13053389C>T" "" "VUS" "" "0000527220" "0" "50" "6" "13306646" "13306648" "del" "0" "01943" "PHACTR1_000006" "g.13306646_13306648del" "" "" "" "TBC1D7(NM_016495.5):c.779_781delCAA (p.T260del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13306414_13306416del" "" "VUS" "" "0000527221" "0" "50" "6" "13307910" "13307910" "subst" "2.43932E-5" "01943" "PHACTR1_000007" "g.13307910G>A" "" "" "" "TBC1D7(NM_016495.5):c.587C>T (p.S196F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13307678G>A" "" "VUS" "" "0000527223" "0" "50" "6" "13320961" "13320964" "del" "0" "01943" "PHACTR1_000008" "g.13320961_13320964del" "" "" "" "TBC1D7(NM_001318806.1):c.479_482delACTT (p.Y160Ffs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13320729_13320732del" "" "VUS" "" "0000610027" "0" "50" "6" "13321279" "13321279" "subst" "0.000211265" "01943" "PHACTR1_000009" "g.13321279C>A" "" "" "" "TBC1D7(NM_001318806.1):c.161G>T (p.R54L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13321047C>A" "" "VUS" "" "0000655482" "0" "30" "6" "13316805" "13316805" "subst" "0.0310156" "01804" "TBC1D7_000004" "g.13316805A>G" "" "" "" "TBC1D7(NM_001143964.2):c.517T>C (p.(=)), TBC1D7(NM_016495.5):c.517T>C (p.L173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13316573A>G" "" "likely benign" "" "0000655483" "0" "30" "6" "13316909" "13316909" "subst" "0.00264778" "01804" "PHACTR1_000010" "g.13316909G>T" "" "" "" "TBC1D7(NM_001143964.2):c.413C>A (p.(Ala138Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13316677G>T" "" "likely benign" "" "0000655484" "0" "30" "6" "13321321" "13321321" "subst" "0.00409163" "01804" "TBC1D7_000009" "g.13321321A>C" "" "" "" "TBC1D7(NM_001143964.2):c.200T>G (p.(Leu67Trp)), TBC1D7(NM_016495.5):c.200T>G (p.L67W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13321089A>C" "" "likely benign" "" "0000677623" "0" "70" "6" "13306723" "13306723" "del" "0" "01943" "PHACTR1_000011" "g.13306723del" "" "" "" "TBC1D7(NM_016495.5):c.703delC (p.L235*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000677624" "0" "70" "6" "13316875" "13316875" "subst" "0" "01943" "PHACTR1_000012" "g.13316875G>T" "" "" "" "TBC1D7(NM_016495.5):c.447C>A (p.V149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000701813" "0" "70" "6" "13278551" "13278551" "subst" "0" "00006" "PHACTR1_000013" "g.13278551T>C" "" "{PMID:Hamada 2018:30256902}" "" "1449T>C" "" "De novo" "" "" "0" "" "" "g.13278319T>C" "" "likely pathogenic (dominant)" "" "0000701826" "0" "90" "6" "13273136" "13273136" "subst" "0" "00006" "PHACTR1_000014" "g.13273136A>T" "" "{PMID:Hamada 2018:30256902}" "" "" "" "De novo" "" "" "0" "" "" "g.13272904A>T" "" "pathogenic (dominant)" "" "0000703891" "3" "70" "6" "13228209" "13228209" "subst" "8.12836E-6" "00006" "PHACTR1_000015" "g.13228209C>T" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.13227977C>T" "" "likely pathogenic" "" "0000720675" "0" "50" "6" "13286438" "13286438" "subst" "0" "01943" "TBC1D7_000015" "g.13286438A>G" "" "" "" "PHACTR1(NM_030948.3):c.1711A>G (p.S571G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802316" "0" "30" "6" "13228216" "13228216" "subst" "0.000150391" "01943" "PHACTR1_000016" "g.13228216C>T" "" "" "" "PHACTR1(NM_030948.3):c.1155C>T (p.Y385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802317" "0" "30" "6" "13316902" "13316902" "subst" "0" "01943" "TBC1D7_000016" "g.13316902G>A" "" "" "" "TBC1D7(NM_016495.5):c.420C>T (p.A140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860170" "0" "30" "6" "13307904" "13307904" "subst" "0.000280545" "01943" "TBC1D7_000017" "g.13307904G>A" "" "" "" "TBC1D7(NM_016495.5):c.593C>T (p.A198V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887039" "0" "30" "6" "13160432" "13160432" "subst" "0.000146337" "02325" "PHACTR1_000017" "g.13160432G>A" "" "" "" "PHACTR1(NM_030948.6):c.416-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976955" "0" "50" "6" "12718927" "12718927" "subst" "0" "01804" "PHACTR1_000018" "g.12718927A>G" "" "" "" "PHACTR1(NM_030948.6):c.-46-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976956" "0" "30" "6" "12749864" "12749866" "del" "0" "01804" "PHACTR1_000019" "g.12749864_12749866del" "" "" "" "PHACTR1(NM_030948.6):c.104-12_104-10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976974" "0" "50" "6" "13014239" "13014239" "subst" "0" "01804" "PHACTR1_000020" "g.13014239C>A" "" "" "" "PHACTR1(NM_001322314.4):c.121C>A (p.(Leu41Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976976" "0" "30" "6" "13160430" "13160430" "subst" "2.03236E-5" "01804" "PHACTR1_000021" "g.13160430T>C" "" "" "" "PHACTR1(NM_030948.6):c.416-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976992" "0" "30" "6" "13286478" "13286478" "dup" "0" "01804" "TBC1D7_000018" "g.13286478dup" "" "" "" "PHACTR1(NM_001374581.2):c.1751dup (p.(Leu585ProfsTer45))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976993" "0" "30" "6" "13286492" "13286492" "subst" "7.66777E-5" "01804" "TBC1D7_000019" "g.13286492C>T" "" "" "" "PHACTR1(NM_001374581.2):c.1765C>T (p.(Gln589Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995329" "0" "30" "6" "12749915" "12749915" "subst" "0" "01804" "PHACTR1_000022" "g.12749915C>T" "" "" "" "PHACTR1(NM_030948.2):c.143C>T (p.(Pro48Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995342" "0" "50" "6" "13316910" "13316910" "subst" "0" "01804" "TBC1D7_000007" "g.13316910C>T" "" "" "" "TBC1D7(NM_016495.4):c.412G>A (p.(Ala138Thr)), TBC1D7(NM_016495.5):c.412G>A (p.A138T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995343" "0" "50" "6" "13321202" "13321202" "subst" "0" "01804" "TBC1D7_000008" "g.13321202C>T" "" "" "" "TBC1D7(NM_001318806.1):c.238G>A (p.V80I), TBC1D7(NM_016495.4):c.319G>A (p.(Val107Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014174" "0" "30" "6" "13160430" "13160430" "subst" "2.03236E-5" "02325" "PHACTR1_000021" "g.13160430T>C" "" "" "" "PHACTR1(NM_030948.6):c.416-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035455" "0" "30" "6" "12912421" "12912421" "subst" "0" "01804" "PHACTR1_000023" "g.12912421G>A" "" "" "" "PHACTR1(NM_030948.6):c.251-141176G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035468" "0" "30" "6" "13014174" "13014174" "subst" "0" "01804" "PHACTR1_000024" "g.13014174G>T" "" "" "" "PHACTR1(NM_001322314.4):c.56G>T (p.(Arg19Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035485" "0" "30" "6" "13307984" "13307984" "subst" "9.40865E-5" "01804" "TBC1D7_000020" "g.13307984A>T" "" "" "" "TBC1D7(NM_016495.6):c.520-7T>A" "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 PHACTR1 ## Count = 47 "{{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}}" "0000004290" "00025573" "50" "664" "7329" "664" "7329" "c.664+7329C>T" "r.(=)" "p.(=)" "" "0000249080" "00025573" "10" "3081" "0" "3081" "0" "c.*1338A>G" "r.(=)" "p.(=)" "" "0000253445" "00025573" "10" "31238" "0" "31238" "0" "c.*29495A>G" "r.(=)" "p.(=)" "" "0000253616" "00025573" "10" "35754" "0" "35754" "0" "c.*34011A>C" "r.(=)" "p.(=)" "" "0000256580" "00025573" "50" "31309" "0" "31309" "0" "c.*29566A>G" "r.(=)" "p.(=)" "" "0000314407" "00025573" "90" "31289" "0" "31289" "0" "c.*29546G>A" "r.(=)" "p.(=)" "" "0000316267" "00025573" "50" "35635" "0" "35635" "0" "c.*33892C>T" "r.(=)" "p.(=)" "" "0000316268" "00025573" "50" "31343" "0" "31343" "0" "c.*29600C>T" "r.(=)" "p.(=)" "" "0000316269" "00025573" "30" "22342" "0" "22342" "0" "c.*20599G>A" "r.(=)" "p.(=)" "" "0000316270" "00025573" "10" "22336" "0" "22336" "0" "c.*20593C>T" "r.(=)" "p.(=)" "" "0000316271" "00025573" "30" "19840" "0" "19840" "0" "c.*18097T>C" "r.(=)" "p.(=)" "" "0000316272" "00025573" "10" "19778" "0" "19778" "0" "c.*18035G>C" "r.(=)" "p.(=)" "" "0000330815" "00025573" "50" "39788" "0" "39788" "0" "c.*38045T>A" "r.(=)" "p.(=)" "" "0000330816" "00025573" "50" "39790" "0" "39790" "0" "c.*38047C>G" "r.(=)" "p.(=)" "" "0000330817" "00025573" "50" "39801" "0" "39801" "0" "c.*38058G>A" "r.(=)" "p.(=)" "" "0000407973" "00025573" "70" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "" "0000527193" "00025573" "50" "275" "0" "275" "0" "c.275C>T" "r.(?)" "p.(Ala92Val)" "" "0000527220" "00025573" "50" "21079" "0" "21081" "0" "c.*19336_*19338del" "r.(=)" "p.(=)" "" "0000527221" "00025573" "50" "22343" "0" "22343" "0" "c.*20600G>A" "r.(=)" "p.(=)" "" "0000527223" "00025573" "50" "35394" "0" "35397" "0" "c.*33651_*33654del" "r.(=)" "p.(=)" "" "0000610027" "00025573" "50" "35712" "0" "35712" "0" "c.*33969C>A" "r.(=)" "p.(=)" "" "0000655482" "00025573" "30" "31238" "0" "31238" "0" "c.*29495A>G" "r.(=)" "p.(=)" "" "0000655483" "00025573" "30" "31342" "0" "31342" "0" "c.*29599G>T" "r.(=)" "p.(=)" "" "0000655484" "00025573" "30" "35754" "0" "35754" "0" "c.*34011A>C" "r.(=)" "p.(=)" "" "0000677623" "00025573" "70" "21156" "0" "21156" "0" "c.*19413del" "r.(?)" "p.(=)" "" "0000677624" "00025573" "70" "31308" "0" "31308" "0" "c.*29565G>T" "r.(=)" "p.(=)" "" "0000701813" "00025573" "70" "1499" "0" "1499" "0" "c.1499T>C" "r.(?)" "p.(Leu500Pro)" "" "0000701826" "00025573" "90" "1436" "0" "1436" "0" "c.1436A>T" "r.(?)" "p.(Asn479Ile)" "" "0000703891" "00025573" "70" "1148" "0" "1148" "0" "c.1148C>T" "r.(?)" "p.(Ser383Leu)" "" "0000720675" "00025573" "50" "1711" "0" "1711" "0" "c.1711A>G" "r.(?)" "p.(Ser571Gly)" "" "0000802316" "00025573" "30" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(Tyr385=)" "" "0000802317" "00025573" "30" "31335" "0" "31335" "0" "c.*29592G>A" "r.(=)" "p.(=)" "" "0000860170" "00025573" "30" "22337" "0" "22337" "0" "c.*20594G>A" "r.(=)" "p.(=)" "" "0000887039" "00025573" "30" "416" "-4" "416" "-4" "c.416-4G>A" "r.spl?" "p.?" "" "0000976955" "00025573" "50" "-46" "-4" "-46" "-4" "c.-46-4A>G" "r.spl?" "p.?" "" "0000976956" "00025573" "30" "104" "-12" "104" "-10" "c.104-12_104-10del" "r.(=)" "p.(=)" "" "0000976974" "00025573" "50" "251" "-39358" "251" "-39358" "c.251-39358C>A" "r.(=)" "p.(=)" "" "0000976976" "00025573" "30" "416" "-6" "416" "-6" "c.416-6T>C" "r.(=)" "p.(=)" "" "0000976992" "00025573" "30" "1727" "24" "1727" "24" "c.1727+24dup" "r.(=)" "p.(=)" "" "0000976993" "00025573" "30" "1727" "38" "1727" "38" "c.1727+38C>T" "r.(=)" "p.(=)" "" "0000995329" "00025573" "30" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ala48Val)" "" "0000995342" "00025573" "50" "31343" "0" "31343" "0" "c.*29600C>T" "r.(=)" "p.(=)" "" "0000995343" "00025573" "50" "35635" "0" "35635" "0" "c.*33892C>T" "r.(=)" "p.(=)" "" "0001014174" "00025573" "30" "416" "-6" "416" "-6" "c.416-6T>C" "r.(=)" "p.(=)" "" "0001035455" "00025573" "30" "251" "-141176" "251" "-141176" "c.251-141176G>A" "r.(=)" "p.(=)" "" "0001035468" "00025573" "30" "251" "-39423" "251" "-39423" "c.251-39423G>T" "r.(=)" "p.(=)" "" "0001035485" "00025573" "30" "22417" "0" "22417" "0" "c.*20674A>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004290" "0000184035" "0000407973" "0000319161" "0000701813" "0000319162" "0000701826" "0000321102" "0000703891"