### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FAM47C)
# 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}}"
"FAM47C" "family with sequence similarity 47, member C" "X" "p21.1" "unknown" "NG_021373.1" "UD_132118522482" "" "https://www.LOVD.nl/FAM47C" "" "1" "25301" "442444" "" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/FAM47C_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 14:29:48" "00006" "2017-01-04 11:41:27" "00000" "2024-08-28 13:16:32"
## 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}}"
"00000629" "FAM47C" "family with sequence similarity 47, member C" "001" "NM_001013736.2" "" "NP_001013758.1" "" "" "" "-52" "3256" "3108" "37026432" "37029739" "00000" "2012-09-13 12:41:13" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{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" "" "" "" ""
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00065242" "" "" "" "1" "" "01606" "{PMID:Harel 2016:26942288}, {DOI:Harel 2016:10.1016/j.ajhg.2016.01.011}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" ">12y" "0" "" "" "" "26942288 F4 BH14387_1"
"00173274" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173459" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173587" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173591" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00065242" "05162"
"00173274" "00187"
"00173459" "00187"
"00173587" "00187"
"00173591" "00187"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00187, 01157, 05162
## Count = 7
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{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" "" "" "" "" "" "" ""
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" ""
"0000051349" "05162" "00065242" "01606" "Isolated (sporadic)" "12y" "Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), Scoliosis (HP:0002650), no microcephaly (Z score -0.34) (-HP:0000252), Low anterior hairline (HP:0000294), Abnormality of the pinna (HP:0000377), Gingival overgrowth (HP:0000212), Micrognathia (HP:0000347), Muscular hypotonia of the trunk (HP:0008936), no limb hypertonia (-HP:0002509), Hyporeflexia (HP:0001265), no dystonic posturing (-HP:0002533), Myopia (HP:0000545), Optic atrophy (HP:0000648), Cerebellar atrophy (HP:0001272), mild cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371), Vitiligo (HP:0001045)," "" "" "" "" "" "" "" "" "" ""
"0000138138" "00187" "00173274" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX"
"0000138323" "00187" "00173459" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX"
"0000138451" "00187" "00173587" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX"
"0000138455" "00187" "00173591" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX"
## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{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" "" ""
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000065394" "00065242" "1" "01606" "01606" "2016-05-24 10:47:04" "" "" "SEQ" "DNA" "" ""
"0000174157" "00173274" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
"0000174342" "00173459" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
"0000174470" "00173587" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
"0000174474" "00173591" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}" "{{geneid}}"
"0000065394" "EMC1"
"0000174157" "GDPD2"
"0000174342" "SSX6"
"0000174470" "PNPLA4"
"0000174474" "DACH2"
## 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 = 50
"{{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}}"
"0000006587" "20" "50" "X" "37028127" "37028127" "subst" "0.187309" "00037" "FAM47C_000001" "g.37028127A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.37010054A>G" "" "VUS" ""
"0000006588" "20" "50" "X" "37029254" "37029254" "subst" "0.195996" "00037" "FAM47C_000004" "g.37029254A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.37011181A>C" "" "VUS" ""
"0000008645" "20" "50" "X" "37028127" "37028127" "subst" "0.187309" "00037" "FAM47C_000001" "g.37028127A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.37010054A>G" "" "VUS" ""
"0000008646" "20" "50" "X" "37029254" "37029254" "subst" "0.195996" "00037" "FAM47C_000004" "g.37029254A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.37011181A>C" "" "VUS" ""
"0000153892" "20" "30" "X" "37027889" "37027889" "subst" "5.59422E-6" "00006" "FAM47C_000005" "g.37027889C>G" "" "{PMID:Harel 2016:26942288}, {DOI:Harel 2016:10.1016/j.ajhg.2016.01.011}" "" "" "" "Germline" "" "" "0" "" "" "g.37009816C>G" "" "likely benign" ""
"0000256197" "0" "50" "X" "37028897" "37028897" "subst" "0" "01943" "FAM47C_000028" "g.37028897A>G" "" "" "" "FAM47C(NM_001013736.2):c.2414A>G (p.K805R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37010824A>G" "" "VUS" ""
"0000256450" "0" "50" "X" "37029131" "37029131" "subst" "0" "01943" "FAM47C_000029" "g.37029131A>G" "" "" "" "FAM47C(NM_001013736.2):c.2648A>G (p.Q883R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37011058A>G" "" "VUS" ""
"0000276595" "0" "30" "X" "37027630" "37027630" "subst" "0" "01943" "FAM47C_000015" "g.37027630C>T" "" "" "" "FAM47C(NM_001013736.2):c.1147C>T (p.P383S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37009557C>T" "" "likely benign" ""
"0000276596" "0" "50" "X" "37027640" "37027640" "subst" "1.67889E-5" "01943" "FAM47C_000016" "g.37027640G>A" "" "" "" "FAM47C(NM_001013736.2):c.1157G>A (p.R386H, p.(Arg386His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37009567G>A" "" "VUS" ""
"0000276597" "0" "50" "X" "37029362" "37029362" "subst" "0" "01943" "FAM47C_000031" "g.37029362C>A" "" "" "" "FAM47C(NM_001013736.2):c.2879C>A (p.P960H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37011289C>A" "" "VUS" ""
"0000276598" "0" "50" "X" "37026836" "37026836" "subst" "0.000185228" "01943" "FAM47C_000008" "g.37026836T>A" "" "" "" "FAM47C(NM_001013736.2):c.353T>A (p.V118E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37008763T>A" "" "VUS" ""
"0000276599" "0" "30" "X" "37027024" "37027024" "subst" "0.000175141" "01943" "FAM47C_000010" "g.37027024T>C" "" "" "" "FAM47C(NM_001013736.2):c.541T>C (p.Y181H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37008951T>C" "" "likely benign" ""
"0000333690" "0" "50" "X" "37026970" "37026970" "subst" "1.12186E-5" "01804" "FAM47C_000009" "g.37026970G>A" "" "" "" "FAM47C(NM_001013736.2):c.487G>A (p.(Gly163Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37008897G>A" "" "VUS" ""
"0000333692" "0" "50" "X" "37027117" "37027117" "subst" "1.12202E-5" "01804" "FAM47C_000011" "g.37027117C>T" "" "" "" "FAM47C(NM_001013736.2):c.634C>T (p.(Pro212Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37009044C>T" "" "VUS" ""
"0000333693" "0" "50" "X" "37027136" "37027136" "subst" "2.24287E-5" "01804" "FAM47C_000012" "g.37027136G>A" "" "" "" "FAM47C(NM_001013736.2):c.653G>A (p.(Gly218Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37009063G>A" "" "VUS" ""
"0000333695" "0" "50" "X" "37027482" "37027482" "subst" "0.00109079" "01804" "FAM47C_000014" "g.37027482G>C" "" "" "" "FAM47C(NM_001013736.2):c.999G>C (p.(Glu333Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37009409G>C" "" "VUS" ""
"0000333696" "0" "50" "X" "37027757" "37027757" "subst" "0" "01804" "FAM47C_000017" "g.37027757A>G" "" "" "" "FAM47C(NM_001013736.2):c.1274A>G (p.(His425Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37009684A>G" "" "VUS" ""
"0000333697" "0" "30" "X" "37027834" "37027834" "subst" "0.000682823" "01804" "FAM47C_000018" "g.37027834C>T" "" "" "" "FAM47C(NM_001013736.2):c.1351C>T (p.(Arg451Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37009761C>T" "" "likely benign" ""
"0000333699" "0" "30" "X" "37028000" "37028000" "subst" "0.000100667" "01804" "FAM47C_000020" "g.37028000G>C" "" "" "" "FAM47C(NM_001013736.3):c.1517G>C (p.(Arg506Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37009927G>C" "" "likely benign" ""
"0000333702" "0" "30" "X" "37028323" "37028323" "subst" "0" "01804" "FAM47C_000023" "g.37028323C>G" "" "" "" "FAM47C(NM_001013736.2):c.1840C>G (p.(Arg614Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37010250C>G" "" "likely benign" ""
"0000333703" "0" "50" "X" "37028352" "37028387" "dup" "0" "01804" "FAM47C_000024" "g.37028352_37028387dup" "" "" "" "FAM47C(NM_001013736.2):c.1848_1849insCATCTCCGCCCAGAGCCTCCTGAGACTGGAGTGTCC (p.(Ser616_His617insHisLeuArgProGluProProGluThrGlyValSer))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37010279_37010314dup" "" "VUS" ""
"0000333705" "0" "50" "X" "37028443" "37028443" "subst" "0.000201695" "01804" "FAM47C_000026" "g.37028443C>T" "" "" "" "FAM47C(NM_001013736.2):c.1960C>T (p.(Leu654Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37010370C>T" "" "VUS" ""
"0000333707" "0" "50" "X" "37029199" "37029199" "subst" "0.00252497" "01804" "FAM47C_000030" "g.37029199A>G" "" "" "" "FAM47C(NM_001013736.2):c.2716A>G (p.(Met906Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37011126A>G" "" "VUS" ""
"0000400930" "1" "30" "X" "37027035" "37027035" "subst" "0.0077166" "00124" "FAM47C_000034" "g.37027035G>A" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G184G" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.37008962G>A" "" "likely benign" ""
"0000400961" "1" "50" "X" "37029425" "37029425" "subst" "0.000595837" "00124" "FAM47C_000035" "g.37029425C>T" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A981V" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.37011352C>T" "" "VUS" ""
"0000401020" "1" "50" "X" "37029254" "37029254" "subst" "0.195996" "00124" "FAM47C_000004" "g.37029254A>C" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "N924T" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.37011181A>C" "" "VUS" ""
"0000401022" "1" "50" "X" "37027007" "37027007" "subst" "0.0276842" "00124" "FAM47C_000033" "g.37027007C>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P175H" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.37008934C>A" "" "VUS" ""
"0000575766" "0" "30" "X" "37027219" "37027219" "subst" "0.00179261" "01804" "FAM47C_000036" "g.37027219C>T" "" "" "" "FAM47C(NM_001013736.2):c.736C>T (p.(Leu246Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37009146C>T" "" "likely benign" ""
"0000575767" "0" "30" "X" "37027568" "37027568" "subst" "0.000218325" "01943" "FAM47C_000037" "g.37027568G>A" "" "" "" "FAM47C(NM_001013736.2):c.1085G>A (p.R362H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37009495G>A" "" "likely benign" ""
"0000575768" "0" "30" "X" "37027640" "37027640" "subst" "1.67889E-5" "01804" "FAM47C_000016" "g.37027640G>A" "" "" "" "FAM47C(NM_001013736.2):c.1157G>A (p.R386H, p.(Arg386His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37009567G>A" "" "likely benign" ""
"0000575769" "0" "50" "X" "37027999" "37027999" "subst" "5.59268E-6" "01943" "FAM47C_000038" "g.37027999C>G" "" "" "" "FAM47C(NM_001013736.2):c.1516C>G (p.R506G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37009926C>G" "" "VUS" ""
"0000575770" "0" "30" "X" "37028014" "37028014" "subst" "0.000156599" "01943" "FAM47C_000021" "g.37028014C>T" "" "" "" "FAM47C(NM_001013736.2):c.1531C>T (p.R511C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37009941C>T" "" "likely benign" ""
"0000575771" "0" "30" "X" "37028209" "37028209" "subst" "0" "01804" "FAM47C_000039" "g.37028209G>A" "" "" "" "FAM47C(NM_001013736.2):c.1726G>A (p.(Asp576Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37010136G>A" "" "likely benign" ""
"0000575774" "0" "30" "X" "37028339" "37028339" "subst" "0" "01943" "FAM47C_000042" "g.37028339G>C" "" "" "" "FAM47C(NM_001013736.2):c.1856G>C (p.R619P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37010266G>C" "" "likely benign" ""
"0000575775" "0" "30" "X" "37028623" "37028623" "subst" "0.000123087" "01804" "FAM47C_000043" "g.37028623C>A" "" "" "" "FAM47C(NM_001013736.2):c.2140C>A (p.(Leu714Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37010550C>A" "" "likely benign" ""
"0000575776" "0" "30" "X" "37028629" "37028629" "subst" "0.055109" "01804" "FAM47C_000044" "g.37028629G>C" "" "" "" "FAM47C(NM_001013736.2):c.2146G>C (p.(Ala716Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37010556G>C" "" "likely benign" ""
"0000575778" "0" "10" "X" "37029425" "37029425" "subst" "0.000595837" "01943" "FAM47C_000035" "g.37029425C>T" "" "" "" "FAM47C(NM_001013736.2):c.2942C>T (p.A981V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37011352C>T" "" "benign" ""
"0000575779" "0" "50" "X" "37029450" "37029450" "subst" "3.91817E-5" "01943" "FAM47C_000046" "g.37029450G>C" "" "" "" "FAM47C(NM_001013736.2):c.2967G>C (p.K989N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37011377G>C" "" "VUS" ""
"0000619511" "0" "30" "X" "37028180" "37028180" "subst" "1.11986E-5" "01943" "FAM47C_000049" "g.37028180G>A" "" "" "" "FAM47C(NM_001013736.2):c.1697G>A (p.R566Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37010107G>A" "" "likely benign" ""
"0000624596" "0" "30" "X" "37026594" "37026594" "subst" "0" "01943" "FAM47C_000047" "g.37026594C>G" "" "" "" "FAM47C(NM_001013736.2):c.111C>G (p.R37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37008521C>G" "" "likely benign" ""
"0000624597" "0" "50" "X" "37027601" "37027601" "subst" "1.11946E-5" "01943" "FAM47C_000048" "g.37027601C>T" "" "" "" "FAM47C(NM_001013736.2):c.1118C>T (p.A373V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37009528C>T" "" "VUS" ""
"0000659274" "0" "30" "X" "37027051" "37027051" "subst" "0" "01943" "FAM47C_000050" "g.37027051C>T" "" "" "" "FAM47C(NM_001013736.2):c.568C>T (p.P190S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37008978C>T" "" "likely benign" ""
"0000693572" "0" "30" "X" "37027906" "37027906" "subst" "1.67877E-5" "01943" "FAM47C_000052" "g.37027906T>C" "" "" "" "FAM47C(NM_001013736.2):c.1423T>C (p.C475R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000728855" "0" "50" "X" "37027810" "37027810" "subst" "0" "01943" "FAM47C_000053" "g.37027810C>A" "" "" "" "FAM47C(NM_001013736.2):c.1327C>A (p.P443T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000810328" "0" "30" "X" "37028022" "37028022" "subst" "2.79637E-5" "01943" "FAM47C_000022" "g.37028022G>C" "" "" "" "FAM47C(NM_001013736.2):c.1539G>C (p.E513D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810329" "0" "30" "X" "37029417" "37029417" "subst" "0" "01943" "FAM47C_000054" "g.37029417A>G" "" "" "" "FAM47C(NM_001013736.2):c.2934A>G (p.G978=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856575" "0" "30" "X" "37026752" "37026752" "subst" "2.79667E-5" "01943" "FAM47C_000055" "g.37026752C>G" "" "" "" "FAM47C(NM_001013736.2):c.269C>G (p.P90R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000867339" "0" "30" "X" "37028107" "37028107" "subst" "0" "01943" "FAM47C_000056" "g.37028107A>G" "" "" "" "FAM47C(NM_001013736.2):c.1624A>G (p.S542G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000984654" "0" "50" "X" "37026748" "37026748" "subst" "0" "01804" "FAM47C_000057" "g.37026748G>A" "" "" "" "FAM47C(NM_001013736.3):c.265G>A (p.(Asp89Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001006728" "0" "50" "X" "37027048" "37027048" "subst" "1.12847E-5" "01804" "FAM47C_000058" "g.37027048C>T" "" "" "" "FAM47C(NM_001013736.2):c.565C>T (p.(Arg189Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes FAM47C
## Count = 50
"{{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}}"
"0000006587" "00000629" "50" "1644" "0" "1644" "0" "c.1644A>G" "r.(?)" "p.(=)" "1"
"0000006588" "00000629" "50" "2771" "0" "2771" "0" "c.2771A>C" "r.(?)" "p.(Asn924Thr)" "1"
"0000008645" "00000629" "50" "1644" "0" "1644" "0" "c.1644A>G" "r.(?)" "p.(=)" "1"
"0000008646" "00000629" "50" "2771" "0" "2771" "0" "c.2771A>C" "r.(?)" "p.(Asn924Thr)" "1"
"0000153892" "00000629" "30" "1406" "0" "1406" "0" "c.1406C>G" "r.(?)" "p.(Thr469Ser)" "1"
"0000256197" "00000629" "50" "2414" "0" "2414" "0" "c.2414A>G" "r.(?)" "p.(Lys805Arg)" ""
"0000256450" "00000629" "50" "2648" "0" "2648" "0" "c.2648A>G" "r.(?)" "p.(Gln883Arg)" ""
"0000276595" "00000629" "30" "1147" "0" "1147" "0" "c.1147C>T" "r.(?)" "p.(Pro383Ser)" ""
"0000276596" "00000629" "50" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386His)" ""
"0000276597" "00000629" "50" "2879" "0" "2879" "0" "c.2879C>A" "r.(?)" "p.(Pro960His)" ""
"0000276598" "00000629" "50" "353" "0" "353" "0" "c.353T>A" "r.(?)" "p.(Val118Glu)" ""
"0000276599" "00000629" "30" "541" "0" "541" "0" "c.541T>C" "r.(?)" "p.(Tyr181His)" ""
"0000333690" "00000629" "50" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Gly163Ser)" ""
"0000333692" "00000629" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Pro212Ser)" ""
"0000333693" "00000629" "50" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Gly218Glu)" ""
"0000333695" "00000629" "50" "999" "0" "999" "0" "c.999G>C" "r.(?)" "p.(Glu333Asp)" ""
"0000333696" "00000629" "50" "1274" "0" "1274" "0" "c.1274A>G" "r.(?)" "p.(His425Arg)" ""
"0000333697" "00000629" "30" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451Cys)" ""
"0000333699" "00000629" "30" "1517" "0" "1517" "0" "c.1517G>C" "r.(?)" "p.(Arg506Pro)" ""
"0000333702" "00000629" "30" "1840" "0" "1840" "0" "c.1840C>G" "r.(?)" "p.(Arg614Gly)" ""
"0000333703" "00000629" "50" "1869" "0" "1904" "0" "c.1869_1904dup" "r.(?)" "p.(Glu624_Pro635dup)" ""
"0000333705" "00000629" "50" "1960" "0" "1960" "0" "c.1960C>T" "r.(?)" "p.(Leu654Phe)" ""
"0000333707" "00000629" "50" "2716" "0" "2716" "0" "c.2716A>G" "r.(?)" "p.(Met906Val)" ""
"0000400930" "00000629" "30" "552" "0" "552" "0" "c.552G>A" "r.(?)" "p.(=)" "1"
"0000400961" "00000629" "50" "2942" "0" "2942" "0" "c.2942C>T" "r.(?)" "p.(Ala981Val)" "1"
"0000401020" "00000629" "50" "2771" "0" "2771" "0" "c.2771A>C" "r.(?)" "p.(Asn924Thr)" "1"
"0000401022" "00000629" "50" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Pro175His)" "1"
"0000575766" "00000629" "30" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Leu246Phe)" ""
"0000575767" "00000629" "30" "1085" "0" "1085" "0" "c.1085G>A" "r.(?)" "p.(Arg362His)" ""
"0000575768" "00000629" "30" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386His)" ""
"0000575769" "00000629" "50" "1516" "0" "1516" "0" "c.1516C>G" "r.(?)" "p.(Arg506Gly)" ""
"0000575770" "00000629" "30" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" ""
"0000575771" "00000629" "30" "1726" "0" "1726" "0" "c.1726G>A" "r.(?)" "p.(Asp576Asn)" ""
"0000575774" "00000629" "30" "1856" "0" "1856" "0" "c.1856G>C" "r.(?)" "p.(Arg619Pro)" ""
"0000575775" "00000629" "30" "2140" "0" "2140" "0" "c.2140C>A" "r.(?)" "p.(Leu714Ile)" ""
"0000575776" "00000629" "30" "2146" "0" "2146" "0" "c.2146G>C" "r.(?)" "p.(Ala716Pro)" ""
"0000575778" "00000629" "10" "2942" "0" "2942" "0" "c.2942C>T" "r.(?)" "p.(Ala981Val)" ""
"0000575779" "00000629" "50" "2967" "0" "2967" "0" "c.2967G>C" "r.(?)" "p.(Lys989Asn)" ""
"0000619511" "00000629" "30" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Arg566Gln)" ""
"0000624596" "00000629" "30" "111" "0" "111" "0" "c.111C>G" "r.(?)" "p.(Arg37=)" ""
"0000624597" "00000629" "50" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Ala373Val)" ""
"0000659274" "00000629" "30" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Pro190Ser)" ""
"0000693572" "00000629" "30" "1423" "0" "1423" "0" "c.1423T>C" "r.(?)" "p.(Cys475Arg)" ""
"0000728855" "00000629" "50" "1327" "0" "1327" "0" "c.1327C>A" "r.(?)" "p.(Pro443Thr)" ""
"0000810328" "00000629" "30" "1539" "0" "1539" "0" "c.1539G>C" "r.(?)" "p.(Glu513Asp)" ""
"0000810329" "00000629" "30" "2934" "0" "2934" "0" "c.2934A>G" "r.(?)" "p.(Gly978=)" ""
"0000856575" "00000629" "30" "269" "0" "269" "0" "c.269C>G" "r.(?)" "p.(Pro90Arg)" ""
"0000867339" "00000629" "30" "1624" "0" "1624" "0" "c.1624A>G" "r.(?)" "p.(Ser542Gly)" ""
"0000984654" "00000629" "50" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Asp89Asn)" ""
"0001006728" "00000629" "50" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Trp)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 9
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000006587"
"0000000209" "0000006588"
"0000000210" "0000008645"
"0000000210" "0000008646"
"0000065394" "0000153892"
"0000174157" "0000400930"
"0000174342" "0000400961"
"0000174470" "0000401020"
"0000174474" "0000401022"