### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AMELX) # 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}}" "AMELX" "amelogenin, X-linked" "X" "p22.31-p22.1" "unknown" "NG_012040.1" "UD_132118374448" "" "https://www.LOVD.nl/AMELX" "" "1" "461" "265" "300391" "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." "" "g" "https://databases.lovd.nl/shared/refseq/AMELX_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2021-03-05 10:44:05" "00006" "2026-05-27 11:12:15" ## 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}}" "00025603" "AMELX" "transcript variant 3" "001" "NM_182680.1" "" "NP_872621.1" "" "" "" "-68" "767" "618" "11311533" "11318881" "00006" "2021-03-05 10:45:04" "" "" ## 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}}" "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" "02211" "AI1E" "amelogenesis imperfecta, type IE (AI1E)" "XLD" "301200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05650" "AI" "amelogenesis imperfecta (AI)" "" "" "" "" "" "00006" "2019-09-11 22:21:30" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AMELX" "02211" "AMELX" "05650" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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" "" "" "" "" "00173101" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173102" "" "" "" "30" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00335377" "" "" "00335364" "1" "" "00006" "{PMID:Kim 2020:31999931}" "PatIII1" "F;M" "" "" "" "0" "" "" "" "FamPatIII1" "00385888" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "M" "" "" "" "0" "" "" "" "V2.28" "00479897" "" "" "" "1" "" "03820" "" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00479898" "" "" "" "1" "" "03820" "" "" "M" "no" "Brazil" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173101" "00187" "00173102" "00187" "00335377" "05650" "00385888" "05650" "00479897" "02211" "00479898" "02211" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157, 02211, 05650 ## 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/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" "" "" "" "" "" "" "0000137965" "00187" "00173101" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137966" "00187" "00173102" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "MRX" "0000279691" "05650" "00385888" "00006" "Unknown" "14y" "isolated hypoplastic amelogenesis imperfecta" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "0000364401" "02211" "00479897" "03820" "Familial, X-linked" "" "hypoplastic amelogenesis imperfecta, with vertical grooves located in the incisal and middle thirds of the crown" "" "" "" "" "" "" "" "" "" "0000364403" "02211" "00479898" "03820" "Unknown" "" "Hypoplastic amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{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" "" "" "0000173984" "00173101" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173985" "00173102" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000336606" "00335377" "1" "00006" "00006" "2021-03-05 10:49:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000387116" "00385888" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000481543" "00479897" "1" "03820" "03820" "2026-05-21 20:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000481544" "00479898" "1" "03820" "03820" "2026-05-21 20:39:10" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000173984" "DDX53" "0000173985" "DDX53" "0000336606" "AMELX" "0000387116" "AMELX" ## 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 = 46 "{{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}}" "0000006307" "20" "50" "X" "11313027" "11313027" "subst" "0" "00037" "ARHGAP6_000009" "g.11313027T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11294907T>C" "" "VUS" "" "0000008367" "20" "50" "X" "11313027" "11313027" "subst" "0" "00037" "AMELX_000001" "g.11313027T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11294907T>C" "" "VUS" "" "0000260831" "0" "30" "X" "11318722" "11318722" "subst" "0" "02326" "ARHGAP6_000028" "g.11318722T>C" "" "" "" "AMELX(NM_182680.1):c.613-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11300602T>C" "" "likely benign" "" "0000262413" "0" "50" "X" "11316694" "11316694" "subst" "2.79769E-5" "01943" "ARHGAP6_000025" "g.11316694G>A" "" "" "" "AMELX(NM_182680.1):c.213G>A (p.M71I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11298574G>A" "" "VUS" "" "0000262877" "0" "30" "X" "11157210" "11157210" "subst" "1.96947E-5" "01943" "ARHGAP6_000018" "g.11157210G>A" "" "" "" "ARHGAP6(NM_013427.2):c.2698C>T (p.P900S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11139090G>A" "" "likely benign" "" "0000262878" "0" "30" "X" "11682470" "11682470" "subst" "0.00021405" "01943" "ARHGAP6_000029" "g.11682470C>A" "" "" "" "ARHGAP6(NM_013427.2):c.479G>T (p.G160V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11664350C>A" "" "likely benign" "" "0000333152" "0" "50" "X" "11157158" "11157158" "subst" "4.27408E-5" "01804" "ARHGAP6_000017" "g.11157158C>T" "" "" "" "ARHGAP6(NM_006125.2):c.*4820G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11139038C>T" "" "VUS" "" "0000333155" "0" "50" "X" "11160433" "11160433" "subst" "5.83529E-6" "01804" "ARHGAP6_000021" "g.11160433T>A" "" "" "" "ARHGAP6(NM_013423.2):c.1568A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11142313T>A" "" "VUS" "" "0000333156" "0" "50" "X" "11187695" "11187695" "subst" "5.75344E-6" "01804" "ARHGAP6_000022" "g.11187695C>T" "" "" "" "ARHGAP6(NM_006125.2):c.1739G>A (p.(Arg580Gln)), ARHGAP6(NM_013427.2):c.1739G>A (p.R580Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11169575C>T" "" "VUS" "" "0000333157" "0" "50" "X" "11206891" "11206891" "subst" "5.61896E-6" "01804" "ARHGAP6_000023" "g.11206891G>A" "" "" "" "ARHGAP6(NM_006125.2):c.1034C>T (p.(Thr345Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11188771G>A" "" "VUS" "" "0000333159" "0" "50" "X" "11316954" "11316954" "del" "0" "01804" "ARHGAP6_000026" "g.11316954del" "" "" "" "AMELX(NM_182680.1):c.472del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11298834del" "" "VUS" "" "0000333160" "0" "30" "X" "11317062" "11317062" "subst" "3.96619E-5" "01804" "ARHGAP6_000027" "g.11317062C>A" "" "" "" "AMELX(NM_001142.2):c.539C>A (p.(Pro180Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11298942C>A" "" "likely benign" "" "0000333161" "0" "50" "X" "11682620" "11682620" "subst" "0" "01804" "ARHGAP6_000030" "g.11682620T>C" "" "" "" "ARHGAP6(NM_006125.2):c.329A>G (p.(Gln110Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11664500T>C" "" "VUS" "" "0000394301" "1" "50" "X" "11316708" "11316708" "subst" "0" "00124" "ARHGAP6_000035" "g.11316708A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.11298588A>G" "" "VUS" "" "0000394302" "1" "30" "X" "11316742" "11316742" "subst" "0.193864" "00124" "ARHGAP6_000036" "g.11316742C>T" "30/208 cases" "{PMID:Tarpey 2009:19377476}" "" "H87H" "recurrent, found 30 times" "Germline" "" "" "0" "" "" "g.11298622C>T" "" "likely benign" "" "0000573070" "0" "30" "X" "11157154" "11157154" "subst" "0.00155255" "01804" "ARHGAP6_000037" "g.11157154C>A" "" "" "" "ARHGAP6(NM_006125.2):c.*4824G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11139034C>A" "" "likely benign" "" "0000573071" "0" "30" "X" "11160419" "11160419" "subst" "0.00166228" "01804" "ARHGAP6_000038" "g.11160419G>T" "" "" "" "ARHGAP6(NM_006125.2):c.*1559C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11142299G>T" "" "likely benign" "" "0000573076" "0" "30" "X" "11196249" "11196249" "subst" "0" "01804" "ARHGAP6_000039" "g.11196249C>T" "" "" "" "ARHGAP6(NM_006125.2):c.1600G>A (p.(Asp534Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11178129C>T" "" "likely benign" "" "0000573077" "0" "50" "X" "11197547" "11197547" "subst" "0" "01943" "ARHGAP6_000040" "g.11197547A>G" "" "" "" "ARHGAP6(NM_013427.2):c.1355T>C (p.I452T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11179427A>G" "" "VUS" "" "0000573088" "0" "50" "X" "11206976" "11206976" "subst" "0" "01943" "ARHGAP6_000041" "g.11206976G>T" "" "" "" "ARHGAP6(NM_013427.2):c.949C>A (p.P317T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11188856G>T" "" "VUS" "" "0000573089" "0" "50" "X" "11207015" "11207015" "subst" "1.6818E-5" "01804" "ARHGAP6_000042" "g.11207015C>T" "" "" "" "ARHGAP6(NM_006125.2):c.910G>A (p.(Glu304Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11188895C>T" "" "VUS" "" "0000573090" "0" "10" "X" "11316959" "11316959" "subst" "0.00127821" "01943" "ARHGAP6_000043" "g.11316959G>T" "" "" "" "AMELX(NM_182680.1):c.478G>T (p.V160L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11298839G>T" "" "benign" "" "0000618910" "0" "50" "X" "11317017" "11317017" "subst" "0" "01943" "ARHGAP6_000045" "g.11317017A>G" "" "" "" "AMELX(NM_182680.1):c.536A>G (p.Q179R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11298897A>G" "" "VUS" "" "0000624384" "0" "30" "X" "11157406" "11157406" "subst" "0" "01943" "ARHGAP6_000044" "g.11157406C>T" "" "" "" "ARHGAP6(NM_013427.2):c.2502G>A (p.T834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11139286C>T" "" "likely benign" "" "0000659048" "0" "50" "X" "11187695" "11187695" "subst" "5.75344E-6" "01943" "ARHGAP6_000022" "g.11187695C>T" "" "" "" "ARHGAP6(NM_006125.2):c.1739G>A (p.(Arg580Gln)), ARHGAP6(NM_013427.2):c.1739G>A (p.R580Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11169575C>T" "" "VUS" "" "0000682036" "0" "30" "X" "11197447" "11197447" "subst" "4.01985E-5" "01943" "ARHGAP6_000046" "g.11197447C>T" "" "" "" "ARHGAP6(NM_013427.2):c.1455G>A (p.L485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693287" "0" "30" "X" "11316889" "11316889" "subst" "0.000319603" "01943" "ARHGAP6_000047" "g.11316889C>T" "" "" "" "AMELX(NM_182680.1):c.408C>T (p.P136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728350" "0" "30" "X" "11206890" "11206890" "subst" "0.00068574" "01943" "ARHGAP6_000048" "g.11206890C>T" "" "" "" "ARHGAP6(NM_013427.2):c.1035G>A (p.T345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728351" "0" "30" "X" "11207028" "11207028" "subst" "0" "01943" "ARHGAP6_000049" "g.11207028G>A" "" "" "" "ARHGAP6(NM_013427.2):c.897C>T (p.D299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728352" "0" "50" "X" "11316938" "11316938" "subst" "2.81635E-5" "01943" "ARHGAP6_000050" "g.11316938C>G" "" "" "" "AMELX(NM_182680.1):c.457C>G (p.P153A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000736049" "11" "70" "X" "11316263" "11316263" "subst" "0" "00006" "AMELX_000002" "g.11316263T>C" "" "{PMID:Kim 2020:31999931}" "" "" "mini-gene splicing assay shows 100% inclusion of usually alternatively spliced exon 4" "Germline" "" "" "0" "" "" "g.11298143T>C" "" "likely pathogenic (!)" "" "0000814977" "0" "90" "X" "11316366" "11316366" "subst" "0" "00006" "AMELX_000003" "g.11316366C>T" "" "{PMID:Prasad 2016:26502894}" "" "NM_001142.2:c.155C>T (P52L)" "" "De novo" "" "" "0" "" "" "g.11298246C>T" "" "pathogenic (dominant)" "" "0000866988" "0" "30" "X" "11157413" "11157413" "subst" "0" "01943" "ARHGAP6_000051" "g.11157413C>T" "" "" "" "ARHGAP6(NM_013427.2):c.2495G>A (p.R832Q), ARHGAP6(NM_013427.3):c.2495G>A (p.(Arg832Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866989" "0" "50" "X" "11197467" "11197467" "subst" "0" "01943" "ARHGAP6_000052" "g.11197467G>A" "" "" "" "ARHGAP6(NM_013427.2):c.1435C>T (p.P479S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866991" "0" "50" "X" "11272778" "11272778" "subst" "0" "01943" "ARHGAP6_000053" "g.11272778G>A" "" "" "" "ARHGAP6(NM_013427.2):c.638C>T (p.S213L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915591" "0" "30" "X" "11316997" "11316997" "subst" "0.000872664" "02325" "ARHGAP6_000054" "g.11316997G>A" "" "" "" "AMELX(NM_182680.1):c.516G>A (p.L172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931328" "0" "50" "X" "11316722" "11316722" "subst" "0" "02327" "ARHGAP6_000055" "g.11316722C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970623" "0" "50" "X" "11317017" "11317017" "subst" "0" "02325" "ARHGAP6_000045" "g.11317017A>G" "" "" "" "AMELX(NM_182680.1):c.536A>G (p.Q179R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984397" "0" "50" "X" "11157413" "11157413" "subst" "0" "01804" "ARHGAP6_000051" "g.11157413C>T" "" "" "" "ARHGAP6(NM_013427.2):c.2495G>A (p.R832Q), ARHGAP6(NM_013427.3):c.2495G>A (p.(Arg832Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006359" "0" "30" "X" "11157051" "11157051" "subst" "0" "01804" "ARHGAP6_000057" "g.11157051C>G" "" "" "" "ARHGAP6(NM_013427.2):c.2857G>C (p.(Glu953Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006360" "0" "30" "X" "11197553" "11197553" "subst" "3.42382E-5" "01804" "ARHGAP6_000058" "g.11197553C>T" "" "" "" "ARHGAP6(NM_013427.2):c.1349G>A (p.(Arg450His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006362" "0" "50" "X" "11317086" "11317086" "subst" "0" "01804" "ARHGAP6_000059" "g.11317086A>C" "" "" "" "AMELX(NM_001142.2):c.563A>C (p.(Glu188Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006368" "0" "30" "X" "11682563" "11682563" "subst" "0" "01804" "ARHGAP6_000060" "g.11682563C>T" "" "" "" "ARHGAP6(NM_013427.2):c.386G>A (p.(Gly129Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057267" "0" "50" "X" "11162240" "11162240" "subst" "0" "01804" "ARHGAP6_000061" "g.11162240C>T" "" "" "" "ARHGAP6(NM_013427.3):c.2036G>A (p.(Arg679His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001078074" "0" "70" "X" "11312935" "11312935" "subst" "0" "03820" "AMELX_000004" "g.11312935C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.11294815C>A" "" "likely pathogenic" "ACMG" "0001078075" "0" "70" "X" "11312935" "11312935" "subst" "0" "03820" "AMELX_000004" "g.11312935C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.11294815C>A" "" "likely pathogenic" "ACMG" ## 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 AMELX ## Count = 46 "{{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}}" "0000006307" "00025603" "50" "54" "65" "54" "65" "c.54+65T>C" "r.(=)" "p.(=)" "" "0000008367" "00025603" "50" "54" "65" "54" "65" "c.54+65T>C" "r.(=)" "p.(=)" "" "0000260831" "00025603" "30" "613" "-5" "613" "-5" "c.613-5T>C" "r.spl?" "p.?" "" "0000262413" "00025603" "50" "213" "0" "213" "0" "c.213G>A" "r.(?)" "p.(Met71Ile)" "" "0000262877" "00025603" "30" "-154391" "0" "-154391" "0" "c.-154391G>A" "r.(?)" "p.(=)" "" "0000262878" "00025603" "30" "364356" "0" "364356" "0" "c.*363738C>A" "r.(=)" "p.(=)" "" "0000333152" "00025603" "50" "-154443" "0" "-154443" "0" "c.-154443C>T" "r.(?)" "p.(=)" "" "0000333155" "00025603" "50" "-151168" "0" "-151168" "0" "c.-151168T>A" "r.(?)" "p.(=)" "" "0000333156" "00025603" "50" "-123906" "0" "-123906" "0" "c.-123906C>T" "r.(?)" "p.(=)" "" "0000333157" "00025603" "50" "-104710" "0" "-104710" "0" "c.-104710G>A" "r.(?)" "p.(=)" "" "0000333159" "00025603" "50" "473" "0" "473" "0" "c.473del" "r.(?)" "p.(Pro158HisfsTer31)" "" "0000333160" "00025603" "30" "581" "0" "581" "0" "c.581C>A" "r.(?)" "p.(Pro194Gln)" "" "0000333161" "00025603" "50" "364506" "0" "364506" "0" "c.*363888T>C" "r.(=)" "p.(=)" "" "0000394301" "00025603" "50" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(His76Arg)" "" "0000394302" "00025603" "30" "261" "0" "261" "0" "c.261C>T" "r.(=)" "p.(=)" "" "0000573070" "00025603" "30" "-154447" "0" "-154447" "0" "c.-154447C>A" "r.(?)" "p.(=)" "" "0000573071" "00025603" "30" "-151182" "0" "-151182" "0" "c.-151182G>T" "r.(?)" "p.(=)" "" "0000573076" "00025603" "30" "-115352" "0" "-115352" "0" "c.-115352C>T" "r.(?)" "p.(=)" "" "0000573077" "00025603" "50" "-114054" "0" "-114054" "0" "c.-114054A>G" "r.(?)" "p.(=)" "" "0000573088" "00025603" "50" "-104625" "0" "-104625" "0" "c.-104625G>T" "r.(?)" "p.(=)" "" "0000573089" "00025603" "50" "-104586" "0" "-104586" "0" "c.-104586C>T" "r.(?)" "p.(=)" "" "0000573090" "00025603" "10" "478" "0" "478" "0" "c.478G>T" "r.(?)" "p.(Val160Leu)" "" "0000618910" "00025603" "50" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Gln179Arg)" "" "0000624384" "00025603" "30" "-154195" "0" "-154195" "0" "c.-154195C>T" "r.(?)" "p.(=)" "" "0000659048" "00025603" "50" "-123906" "0" "-123906" "0" "c.-123906C>T" "r.(?)" "p.(=)" "" "0000682036" "00025603" "30" "-114154" "0" "-114154" "0" "c.-114154C>T" "r.(?)" "p.(=)" "" "0000693287" "00025603" "30" "408" "0" "408" "0" "c.408C>T" "r.(?)" "p.(Pro136=)" "" "0000728350" "00025603" "30" "-104711" "0" "-104711" "0" "c.-104711C>T" "r.(?)" "p.(=)" "" "0000728351" "00025603" "30" "-104573" "0" "-104573" "0" "c.-104573G>A" "r.(?)" "p.(=)" "" "0000728352" "00025603" "50" "457" "0" "457" "0" "c.457C>G" "r.(?)" "p.(Pro153Ala)" "" "0000736049" "00025603" "70" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000814977" "00025603" "90" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Pro52Leu)" "" "0000866988" "00025603" "30" "-154188" "0" "-154188" "0" "c.-154188C>T" "r.(?)" "p.(=)" "" "0000866989" "00025603" "50" "-114134" "0" "-114134" "0" "c.-114134G>A" "r.(?)" "p.(=)" "" "0000866991" "00025603" "50" "-38823" "0" "-38823" "0" "c.-38823G>A" "r.(?)" "p.(=)" "" "0000915591" "00025603" "30" "516" "0" "516" "0" "c.516G>A" "r.(?)" "p.(Leu172=)" "" "0000931328" "00025603" "50" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Pro81Ser)" "" "0000970623" "00025603" "50" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Gln179Arg)" "" "0000984397" "00025603" "50" "-154188" "0" "-154188" "0" "c.-154188C>T" "r.(?)" "p.(=)" "" "0001006359" "00025603" "30" "-154550" "0" "-154550" "0" "c.-154550C>G" "r.(?)" "p.(=)" "" "0001006360" "00025603" "30" "-114048" "0" "-114048" "0" "c.-114048C>T" "r.(?)" "p.(=)" "" "0001006362" "00025603" "50" "605" "0" "605" "0" "c.605A>C" "r.(?)" "p.(Glu202Ala)" "" "0001006368" "00025603" "30" "364449" "0" "364449" "0" "c.*363831C>T" "r.(=)" "p.(=)" "" "0001057267" "00025603" "50" "-149361" "0" "-149361" "0" "c.-149361C>T" "r.(?)" "p.(=)" "" "0001078074" "00025603" "70" "27" "0" "27" "0" "c.27C>A" "r.(?)" "p.(Cys9Ter)" "2" "0001078075" "00025603" "70" "27" "0" "27" "0" "c.27C>A" "r.(?)" "p.(Cys9Ter)" "2" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006307" "0000000210" "0000008367" "0000173984" "0000394301" "0000173985" "0000394302" "0000336606" "0000736049" "0000387116" "0000814977" "0000481543" "0001078074" "0000481544" "0001078075"