### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ANKRD17) # 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}}" "ANKRD17" "ankyrin repeat domain 17" "4" "q21.1-q21.21" "unknown" "NC_000004.11" "UD_132464438882" "" "https://www.LOVD.nl/ANKRD17" "" "1" "23575" "26057" "615929" "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/ANKRD17_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-18 09:49:55" "00000" "2026-01-20 18:57:21" ## 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}}" "00002512" "ANKRD17" "transcript variant 1" "002" "NM_032217.3" "" "NP_115593.3" "" "" "" "-117" "9258" "7812" "74124502" "73940502" "" "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}}" "00404" "LQT" "QT syndrome, long (LQT)" "" "" "" "" "" "00006" "2014-06-06 17:35:42" "00006" "2015-07-04 16:01:55" "05532" "MRD" "mental retardation, autosomal dominant (MRD, intellectual disability (IDD))" "" "" "" "autosomal dominant" "" "00006" "2018-12-18 09:20:18" "00006" "2018-12-18 09:24:21" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07103" "CAGS" "Chopra-Amiel-Gordon syndrome" "AD" "619504" "" "" "" "00006" "2024-09-18 09:51:16" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ANKRD17" "07103" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00454566" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "304705" "00469726" "" "" "" "7" "" "00006" "{PMID:Devalla 2016:27861123}" "4-generation family, 7 affected (3F, 4M), unaffected heterozygous carrier parents/relatives" "M" "" "Sudan" "" "0" "" "" "" "FamPatIV13" "00471684" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00454566" "05532" "00469726" "00404" "00471684" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00404, 05532, 05611, 07103 ## Count = 3 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000343213" "05532" "00454566" "01164" "Unknown" "03y" "Short stature, Microcephaly, Selective mutism" "" "" "" "" "" "" "CAGS" "" "0000354878" "00404" "00469726" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "CPVT3" "long QT syndrome" "0000356494" "05611" "00471684" "03544" "Isolated (sporadic)" "" "HP:0000154, HP:0000158, HP:0000252, HP:0000445, HP:0000687, HP:000748, HP:0000750, HP:0001263, HP:0001270, HP:0001288, HP:0002002, HP:0002141, HP:0002360, HP:0004322, HP:0004325, HP:0007018, HP:0001249, HP:0000729" "" "" "" "" "" "" "CAGS" "intellectual disability, ataxia" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000456179" "00454566" "1" "01164" "01164" "2024-09-16 15:28:45" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000471394" "00469726" "1" "00006" "00006" "2025-11-19 14:47:04" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000473354" "00471684" "1" "03544" "03544" "2025-12-31 11:36:36" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000456179" "ANKRD17" "0000471394" "TECRL" ## 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 = 59 "{{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}}" "0000256208" "0" "50" "4" "73990763" "73990763" "subst" "0" "01943" "ANKRD17_000002" "g.73990763A>C" "" "" "" "ANKRD17(NM_032217.4):c.3359T>G (p.L1120R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73125046A>C" "" "VUS" "" "0000262502" "0" "50" "4" "74005551" "74005551" "subst" "2.4394E-5" "01943" "ANKRD17_000003" "g.74005551G>A" "" "" "" "ANKRD17(NM_032217.4):c.2782C>T (p.R928W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73139834G>A" "" "VUS" "" "0000262503" "0" "30" "4" "73944597" "73944597" "subst" "0.000521568" "01943" "ANKRD17_000001" "g.73944597T>C" "" "" "" "ANKRD17(NM_032217.4):c.7170A>G (p.A2390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73078880T>C" "" "likely benign" "" "0000344557" "0" "50" "4" "73979568" "73979571" "del" "0" "02327" "ANKRD17_000004" "g.73979568_73979571del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73113851_73113854del" "" "VUS" "" "0000523090" "0" "50" "4" "73957707" "73957707" "subst" "0" "01943" "ANKRD17_000005" "g.73957707A>G" "" "" "" "ANKRD17(NM_032217.4):c.5638T>C (p.S1880P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73091990A>G" "" "VUS" "" "0000523091" "0" "70" "4" "73959817" "73959823" "del" "0" "02327" "ANKRD17_000006" "g.73959817_73959823del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73094100_73094106del" "" "likely pathogenic" "" "0000523092" "0" "50" "4" "74007958" "74007958" "subst" "0" "01804" "ANKRD17_000007" "g.74007958C>T" "" "" "" "ANKRD17(NM_032217.3):c.2229+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73142241C>T" "" "VUS" "" "0000609289" "0" "50" "4" "74124302" "74124302" "dup" "0" "01943" "ANKRD17_000009" "g.74124302dup" "" "" "" "ANKRD17(NM_032217.4):c.90dupC (p.A31Rfs*47)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73258585dup" "" "VUS" "" "0000719986" "0" "30" "4" "74026998" "74026998" "subst" "4.87278E-5" "01943" "ANKRD17_000010" "g.74026998T>C" "" "" "" "ANKRD17(NM_032217.4):c.615A>G (p.T205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886370" "0" "90" "4" "73981593" "73981596" "del" "0" "02329" "ANKRD17_000011" "g.73981593_73981596del" "" "" "" "ANKRD17(NM_032217.5):c.4229_4232delATCA (p.N1410Sfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924155" "0" "30" "4" "74021888" "74021888" "subst" "0.00131821" "02325" "ANKRD17_000012" "g.74021888T>G" "" "" "" "ANKRD17(NM_001286771.3):c.366-5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928936" "0" "30" "4" "73941995" "73941995" "subst" "0.000854482" "02325" "ANKRD17_000013" "g.73941995G>C" "" "" "" "ANKRD17(NM_001286771.3):c.7426C>G (p.P2476A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948366" "0" "50" "4" "73957934" "73957934" "subst" "0" "02325" "ANKRD17_000014" "g.73957934A>G" "" "" "" "ANKRD17(NM_001286771.3):c.5072T>C (p.I1691T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963232" "0" "10" "4" "74010570" "74010570" "dup" "0" "02329" "ANKRD17_000015" "g.74010570dup" "" "" "" "ANKRD17(NM_032217.5):c.1870-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000963233" "0" "70" "4" "74021870" "74021870" "subst" "0" "02327" "ANKRD17_000016" "g.74021870C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000972085" "0" "50" "4" "74017238" "74017238" "subst" "0" "03779" "ANKRD17_000017" "g.74017238T>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000976353" "0" "50" "4" "73941988" "73941988" "subst" "4.11323E-6" "02325" "ANKRD17_000018" "g.73941988G>C" "" "" "" "ANKRD17(NM_001286771.3):c.7433C>G (p.A2478G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976354" "0" "30" "4" "73942680" "73942680" "subst" "0" "01804" "ANKRD17_000019" "g.73942680T>C" "" "" "" "ANKRD17(NM_032217.5):c.7729A>G (p.(Thr2577Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976355" "0" "30" "4" "73942680" "73942680" "subst" "1.64054E-5" "01804" "ANKRD17_000020" "g.73942680T>G" "" "" "" "ANKRD17(NM_032217.5):c.7729A>C (p.(Thr2577Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976356" "0" "30" "4" "73942791" "73942791" "subst" "5.41888E-5" "01804" "ANKRD17_000021" "g.73942791T>C" "" "" "" "ANKRD17(NM_032217.5):c.7618A>G (p.(Met2540Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976357" "0" "30" "4" "73956933" "73956933" "subst" "8.5284E-5" "01804" "ANKRD17_000022" "g.73956933G>C" "" "" "" "ANKRD17(NM_032217.5):c.6412C>G (p.(Pro2138Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976358" "0" "50" "4" "73963872" "73963872" "subst" "4.06194E-6" "01804" "ANKRD17_000023" "g.73963872C>A" "" "" "" "ANKRD17(NM_032217.5):c.4939G>T (p.(Val1647Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976359" "0" "30" "4" "74000937" "74000937" "subst" "0" "01804" "ANKRD17_000024" "g.74000937C>G" "" "" "" "ANKRD17(NM_032217.5):c.3131G>C (p.(Ser1044Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976360" "0" "90" "4" "74005689" "74005689" "subst" "0" "02325" "ANKRD17_000025" "g.74005689G>A" "" "" "" "ANKRD17(NM_001286771.3):c.2305C>T (p.Q769*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000994416" "0" "30" "4" "73943107" "73943107" "subst" "1.22328E-5" "01804" "ANKRD17_000026" "g.73943107C>T" "" "" "" "ANKRD17(NM_032217.3):c.7552G>A (p.(Val2518Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994417" "0" "50" "4" "73956791" "73956791" "subst" "0" "01804" "ANKRD17_000027" "g.73956791G>A" "" "" "" "ANKRD17(NM_032217.3):c.6554C>T (p.(Thr2185Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994418" "0" "50" "4" "73956968" "73956968" "subst" "3.65494E-5" "01804" "ANKRD17_000028" "g.73956968G>C" "" "" "" "ANKRD17(NM_032217.3):c.6377C>G (p.(Ser2126Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994419" "0" "30" "4" "73957947" "73957947" "subst" "1.63526E-5" "01804" "ANKRD17_000029" "g.73957947T>A" "" "" "" "ANKRD17(NM_032217.3):c.5398A>T (p.(Ile1800Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994420" "0" "50" "4" "73990963" "73990963" "subst" "4.0657E-6" "01804" "ANKRD17_000030" "g.73990963T>C" "" "" "" "ANKRD17(NM_032217.3):c.3301A>G (p.(Thr1101Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994421" "0" "50" "4" "74005943" "74005943" "subst" "4.17592E-6" "01804" "ANKRD17_000031" "g.74005943C>G" "" "" "" "ANKRD17(NM_032217.3):c.2390G>C (p.(Gly797Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001008366" "0" "70" "4" "73985942" "73985942" "del" "0" "01164" "ANKRD17_000032" "g.73985942del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.73120225del" "" "likely pathogenic (dominant)" "ACMG" "0001024943" "0" "50" "4" "73984475" "73984475" "subst" "0" "02325" "ANKRD17_000033" "g.73984475A>G" "" "" "" "ANKRD17(NM_001286771.3):c.3779T>C (p.V1260A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034661" "0" "30" "4" "73935061" "73935061" "subst" "0" "01804" "ANKRD17_000034" "g.73935061T>G" "" "" "" "COX18(NM_001300729.1):c.416A>C (p.(Gln139Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034662" "0" "30" "4" "73956507" "73956507" "subst" "8.93778E-5" "01804" "ANKRD17_000035" "g.73956507G>T" "" "" "" "ANKRD17(NM_032217.5):c.6838C>A (p.(Pro2280Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034663" "0" "50" "4" "73956852" "73956852" "subst" "0" "01804" "ANKRD17_000036" "g.73956852C>T" "" "" "" "ANKRD17(NM_032217.5):c.6493G>A (p.(Gly2165Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034664" "0" "30" "4" "73959425" "73959425" "subst" "0" "01804" "ANKRD17_000037" "g.73959425T>A" "" "" "" "ANKRD17(NM_032217.5):c.5327+371A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034665" "0" "30" "4" "74005457" "74005457" "subst" "4.06726E-5" "01804" "ANKRD17_000038" "g.74005457G>T" "" "" "" "ANKRD17(NM_032217.5):c.2876C>A (p.(Pro959His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034666" "0" "50" "4" "74007978" "74007978" "subst" "0" "01804" "ANKRD17_000039" "g.74007978G>T" "" "" "" "ANKRD17(NM_032217.5):c.2210C>A (p.(Pro737Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034667" "0" "50" "4" "74008026" "74008026" "subst" "0" "01804" "ANKRD17_000040" "g.74008026T>C" "" "" "" "ANKRD17(NM_032217.5):c.2162A>G (p.(Asn721Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034668" "0" "50" "4" "74021354" "74021354" "subst" "0" "01804" "ANKRD17_000041" "g.74021354A>C" "" "" "" "ANKRD17(NM_032217.5):c.994T>G (p.(Ser332Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051745" "0" "50" "4" "73942673" "73942673" "subst" "4.11787E-6" "01804" "ANKRD17_000042" "g.73942673T>C" "" "" "" "ANKRD17(NM_032217.5):c.7736A>G (p.(Asn2579Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051746" "0" "50" "4" "73943251" "73943251" "subst" "0" "01804" "ANKRD17_000043" "g.73943251C>A" "" "" "" "ANKRD17(NM_032217.5):c.7409-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051747" "0" "30" "4" "73951409" "73951410" "ins" "0" "01804" "ANKRD17_000044" "g.73951409_73951410insG" "" "" "" "ANKRD17(NM_032217.5):c.6962-247_6962-246insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051748" "0" "30" "4" "73956534" "73956534" "subst" "1.62525E-5" "01804" "ANKRD17_000045" "g.73956534C>T" "" "" "" "ANKRD17(NM_032217.5):c.6811G>A (p.(Gly2271Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051749" "0" "50" "4" "73985885" "73985885" "subst" "4.06365E-6" "01804" "ANKRD17_000046" "g.73985885A>G" "" "" "" "ANKRD17(NM_032217.5):c.4019T>C (p.(Ile1340Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051750" "0" "50" "4" "74008443" "74008443" "subst" "0" "01804" "ANKRD17_000047" "g.74008443C>T" "" "" "" "ANKRD17(NM_032217.5):c.1999G>A (p.(Val667Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051751" "0" "30" "4" "74124023" "74124025" "dup" "0" "01804" "ANKRD17_000048" "g.74124023_74124025dup" "" "" "" "ANKRD17(NM_032217.5):c.372_374dup (p.(Asp124dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051752" "0" "50" "4" "74124328" "74124328" "subst" "0" "01804" "ANKRD17_000049" "g.74124328G>A" "" "" "" "ANKRD17(NM_032217.5):c.58C>T (p.(Pro20Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059535" "3" "50" "4" "73984490" "73984490" "subst" "0" "00006" "ANKRD17_000050" "g.73984490A>C" "" "{PMID:Devalla 2016:27861123}," "" "Val1368Gly" "" "Germline" "yes" "" "0" "" "" "g.73118773A>C" "" "VUS" "" "0001062208" "0" "70" "4" "73944553" "73944553" "subst" "0" "03544" "ANKRD17_000051" "g.73944553G>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.73078836G>T" "" "likely pathogenic" "ACMG" "0001064195" "0" "30" "4" "73943154" "73943154" "subst" "0.00016255" "02325" "ANKRD17_000052" "g.73943154C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064196" "0" "50" "4" "73944392" "73944392" "subst" "0" "02325" "ANKRD17_000053" "g.73944392T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064197" "0" "50" "4" "73956770" "73956770" "subst" "2.43736E-5" "02325" "ANKRD17_000054" "g.73956770G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064198" "0" "50" "4" "73957488" "73957488" "subst" "0" "01804" "ANKRD17_000055" "g.73957488T>A" "" "" "" "ANKRD17(NM_032217.5):c.5857A>T (p.(Asn1953Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064199" "0" "50" "4" "73962876" "73962876" "subst" "4.11414E-6" "01804" "ANKRD17_000056" "g.73962876C>T" "" "" "" "ANKRD17(NM_032217.5):c.5135G>A (p.(Arg1712His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064200" "0" "50" "4" "74005585" "74005590" "del" "0" "02325" "ANKRD17_000057" "g.74005585_74005590del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064201" "0" "50" "4" "74008105" "74008105" "subst" "0" "01804" "ANKRD17_000058" "g.74008105A>G" "" "" "" "ANKRD17(NM_032217.5):c.2086-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064202" "0" "30" "4" "74088735" "74088735" "subst" "0" "02325" "ANKRD17_000059" "g.74088735T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064203" "0" "50" "4" "74124142" "74124142" "subst" "0" "02325" "ANKRD17_000060" "g.74124142G>A" "" "" "" "" "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 ANKRD17 ## Count = 59 "{{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}}" "0000256208" "00002512" "50" "3359" "0" "3359" "0" "c.3359T>G" "r.(?)" "p.(Leu1120Arg)" "" "0000262502" "00002512" "50" "2782" "0" "2782" "0" "c.2782C>T" "r.(?)" "p.(Arg928Trp)" "" "0000262503" "00002512" "30" "7170" "0" "7170" "0" "c.7170A>G" "r.(?)" "p.(Ala2390=)" "" "0000344557" "00002512" "50" "4341" "0" "4344" "0" "c.4341_4344del" "r.(?)" "p.(Gln1448LeufsTer12)" "" "0000523090" "00002512" "50" "5638" "0" "5638" "0" "c.5638T>C" "r.(?)" "p.(Ser1880Pro)" "" "0000523091" "00002512" "70" "5304" "0" "5310" "0" "c.5304_5310del" "r.(?)" "p.(Asp1770Ter)" "" "0000523092" "00002512" "50" "2229" "1" "2229" "1" "c.2229+1G>A" "r.spl?" "p.?" "" "0000609289" "00002512" "50" "90" "0" "90" "0" "c.90dup" "r.(?)" "p.(Ala31ArgfsTer47)" "" "0000719986" "00002512" "30" "615" "0" "615" "0" "c.615A>G" "r.(?)" "p.(Thr205=)" "" "0000886370" "00002512" "90" "4229" "0" "4232" "0" "c.4229_4232del" "r.(?)" "p.(Asn1410Serfs*9)" "" "0000924155" "00002512" "30" "705" "-5" "705" "-5" "c.705-5A>C" "r.spl?" "p.?" "" "0000928936" "00002512" "30" "7765" "0" "7765" "0" "c.7765C>G" "r.(?)" "p.(Pro2589Ala)" "" "0000948366" "00002512" "50" "5411" "0" "5411" "0" "c.5411T>C" "r.(?)" "p.(Ile1804Thr)" "" "0000963232" "00002512" "10" "1870" "-7" "1870" "-7" "c.1870-7dup" "r.(=)" "p.(=)" "" "0000963233" "00002512" "70" "718" "0" "718" "0" "c.718G>C" "r.(?)" "p.(Glu240Gln)" "" "0000972085" "00002512" "50" "1238" "0" "1238" "0" "c.1238A>C" "r.(?)" "p.(His413Pro)" "" "0000976353" "00002512" "50" "7772" "0" "7772" "0" "c.7772C>G" "r.(?)" "p.(Ala2591Gly)" "" "0000976354" "00002512" "30" "7729" "0" "7729" "0" "c.7729A>G" "r.(?)" "p.(Thr2577Ala)" "" "0000976355" "00002512" "30" "7729" "0" "7729" "0" "c.7729A>C" "r.(?)" "p.(Thr2577Pro)" "" "0000976356" "00002512" "30" "7618" "0" "7618" "0" "c.7618A>G" "r.(?)" "p.(Met2540Val)" "" "0000976357" "00002512" "30" "6412" "0" "6412" "0" "c.6412C>G" "r.(?)" "p.(Pro2138Ala)" "" "0000976358" "00002512" "50" "4939" "0" "4939" "0" "c.4939G>T" "r.(?)" "p.(Val1647Leu)" "" "0000976359" "00002512" "30" "3131" "0" "3131" "0" "c.3131G>C" "r.(?)" "p.(Ser1044Thr)" "" "0000976360" "00002512" "90" "2644" "0" "2644" "0" "c.2644C>T" "r.(?)" "p.(Gln882*)" "" "0000994416" "00002512" "30" "7552" "0" "7552" "0" "c.7552G>A" "r.(?)" "p.(Val2518Ile)" "" "0000994417" "00002512" "50" "6554" "0" "6554" "0" "c.6554C>T" "r.(?)" "p.(Thr2185Ile)" "" "0000994418" "00002512" "50" "6377" "0" "6377" "0" "c.6377C>G" "r.(?)" "p.(Ser2126Cys)" "" "0000994419" "00002512" "30" "5398" "0" "5398" "0" "c.5398A>T" "r.(?)" "p.(Ile1800Phe)" "" "0000994420" "00002512" "50" "3301" "0" "3301" "0" "c.3301A>G" "r.(?)" "p.(Thr1101Ala)" "" "0000994421" "00002512" "50" "2390" "0" "2390" "0" "c.2390G>C" "r.(?)" "p.(Gly797Ala)" "" "0001008366" "00002512" "70" "3962" "0" "3962" "0" "c.3962del" "r.(?)" "p.(Asp1321Valfs*4)" "21" "0001024943" "00002512" "50" "4118" "0" "4118" "0" "c.4118T>C" "r.(?)" "p.(Val1373Ala)" "" "0001034661" "00002512" "30" "14699" "0" "14699" "0" "c.*6887A>C" "r.(=)" "p.(=)" "" "0001034662" "00002512" "30" "6838" "0" "6838" "0" "c.6838C>A" "r.(?)" "p.(Pro2280Thr)" "" "0001034663" "00002512" "50" "6493" "0" "6493" "0" "c.6493G>A" "r.(?)" "p.(Gly2165Arg)" "" "0001034664" "00002512" "30" "5327" "371" "5327" "371" "c.5327+371A>T" "r.(=)" "p.(=)" "" "0001034665" "00002512" "30" "2876" "0" "2876" "0" "c.2876C>A" "r.(?)" "p.(Pro959His)" "" "0001034666" "00002512" "50" "2210" "0" "2210" "0" "c.2210C>A" "r.(?)" "p.(Pro737Gln)" "" "0001034667" "00002512" "50" "2162" "0" "2162" "0" "c.2162A>G" "r.(?)" "p.(Asn721Ser)" "" "0001034668" "00002512" "50" "994" "0" "994" "0" "c.994T>G" "r.(?)" "p.(Ser332Ala)" "" "0001051745" "00002512" "50" "7736" "0" "7736" "0" "c.7736A>G" "r.(?)" "p.(Asn2579Ser)" "" "0001051746" "00002512" "50" "7409" "-1" "7409" "-1" "c.7409-1G>T" "r.spl?" "p.?" "" "0001051747" "00002512" "30" "6962" "-247" "6962" "-246" "c.6962-247_6962-246insC" "r.(=)" "p.(=)" "" "0001051748" "00002512" "30" "6811" "0" "6811" "0" "c.6811G>A" "r.(?)" "p.(Gly2271Arg)" "" "0001051749" "00002512" "50" "4019" "0" "4019" "0" "c.4019T>C" "r.(?)" "p.(Ile1340Thr)" "" "0001051750" "00002512" "50" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Val667Ile)" "" "0001051751" "00002512" "30" "372" "0" "374" "0" "c.372_374dup" "r.(?)" "p.(Asp124dup)" "" "0001051752" "00002512" "50" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Pro20Ser)" "" "0001059535" "00002512" "50" "4103" "0" "4103" "0" "c.4103T>G" "r.(?)" "p.(Val1368Gly)" "" "0001062208" "00002512" "70" "7214" "0" "7214" "0" "c.7214C>A" "r.(?)" "p.(Ser2405*)" "31" "0001064195" "00002512" "30" "7505" "0" "7505" "0" "c.7505G>A" "r.(?)" "p.(Arg2502Gln)" "" "0001064196" "00002512" "50" "7375" "0" "7375" "0" "c.7375A>C" "r.(?)" "p.(Ile2459Leu)" "" "0001064197" "00002512" "50" "6575" "0" "6575" "0" "c.6575C>T" "r.(?)" "p.(Ser2192Leu)" "" "0001064198" "00002512" "50" "5857" "0" "5857" "0" "c.5857A>T" "r.(?)" "p.(Asn1953Tyr)" "" "0001064199" "00002512" "50" "5135" "0" "5135" "0" "c.5135G>A" "r.(?)" "p.(Arg1712His)" "" "0001064200" "00002512" "50" "2750" "0" "2755" "0" "c.2750_2755del" "r.(?)" "p.(Val917_Gly918del)" "" "0001064201" "00002512" "50" "2086" "-3" "2086" "-3" "c.2086-3T>C" "r.spl?" "p.?" "" "0001064202" "00002512" "30" "393" "35258" "393" "35258" "c.393+35258A>G" "r.(=)" "p.(=)" "" "0001064203" "00002512" "50" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Pro82Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000456179" "0001008366" "0000471394" "0001059535" "0000473354" "0001062208"