### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WDFY3) # 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}}" "WDFY3" "WD repeat and FYVE domain containing 3" "4" "q21.3" "unknown" "NC_000004.11" "UD_132464980293" "" "http://www.LOVD.nl/WDFY3" "" "1" "20751" "23001" "617485" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-12-03 09:55:34" "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}}" "00022732" "WDFY3" "WD repeat and FYVE domain containing 3" "001" "NM_014991.4" "" "NP_055806.2" "" "" "" "-408" "13912" "10581" "85887544" "85590690" "" "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}}" "02540" "-" "macrocephaly/autism syndrome" "AD" "605309" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05153" "MCPH" "microcephaly, primary, autosomal recessive (MCPH)" "" "" "" "" "" "00006" "2016-04-14 15:50:58" "00006" "2016-07-05 08:24:40" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06626" "MCPH18" "microcephaly 18, primary, autosomal dominant" "AD" "617520" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2024-12-03 09:55:53" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "WDFY3" "05153" "WDFY3" "06626" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00305526" "" "" "" "1" "" "00006" "{PMID:Vissers 2020:32553196}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "Individual 12" "00415085" "" "" "" "1" "" "01164" "" "" "M" "-" "Germany" "" "0" "" "" "" "202299" "00458111" "" "" "" "2" "" "04663" "{PMID:Graziani 2024:39614649}" "2-generation family, affected father/daughter" "F" "no" "Italy" "" "0" "yes" "none" "white" "FamPatII1" "00458137" "" "" "" "10" "" "00006" "{PMID:Kadir 2016:27008544}" "3-generation family, 10 affected (5F, 5M)" "F;M" "no" "Israel" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00305526" "05611" "00415085" "06626" "00458111" "02540" "00458137" "05153" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02540, 05153, 05611, 06626 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000231375" "05611" "00305526" "00006" "Unknown" "10y" "birth 39+4 w, weight 2400 (<-2.5 SD), OFC 37 (normal); height Normal, weight Normal, OFC (+3.0 SD); mild/moderate intellectual disability; developmental delay; motor delay; speech delay; no dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; attention deficit disorder; no sleep disturbances; facial abnormalities; no cardiac abnormalities; Tendency to chew long time before swallowing; Late ossification of anterior fontanel; Hyperkinesia; MRI-brain no holoprosencephaly, Abnormal corpus callosum with hypertrophic anterior part and thin posterior part, Virchow Robin" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306886" "06626" "00415085" "01164" "Unknown" "" "neurodevelopmental delay, autistic behavior" "" "" "" "" "" "" "" "MCPH18" "neurodevelopmental delay" "0000346556" "02540" "00458111" "04663" "Familial, autosomal dominant" "09y" "macrocephaly, global developmental delay, autism, lateral ventricle dilatation" "" "" "" "" "" "" "" "MCPH18" "neurodevelopmental delay" "0000346582" "05153" "00458137" "00006" "Familial, autosomal dominant" "" "see paper; ..., primary microcephaly, OFC SD<3; mild-moderate intellectual disability; no dysmorphic features, no ocular malformations, no failure to thrive" "" "" "" "" "" "" "" "MCPH18" "microcephaly" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000306655" "00305526" "1" "00006" "00006" "2020-06-28 10:52:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416366" "00415085" "1" "01164" "01164" "2022-08-08 07:47:23" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000459729" "00458111" "1" "04663" "04663" "2024-12-02 14:05:26" "" "" "SEQ-NG" "DNA" "Peripheral blood" "WES" "0000459756" "00458137" "1" "00006" "00006" "2024-12-03 10:27:56" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000306655" "CNOT1" "0000416366" "WDFY3" ## 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 = 68 "{{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}}" "0000254329" "0" "30" "4" "85676548" "85676548" "subst" "8.00135E-5" "01943" "WDFY3_000002" "g.85676548A>G" "" "" "" "WDFY3(NM_014991.4):c.5430T>C (p.D1810=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84755395A>G" "" "likely benign" "" "0000319780" "0" "30" "4" "85738575" "85738575" "subst" "7.73521E-5" "01943" "WDFY3_000007" "g.85738575C>T" "" "" "" "WDFY3(NM_014991.4):c.1857G>A (p.T619=), WDFY3(NM_014991.6):c.1857G>A (p.T619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84817422C>T" "" "likely benign" "" "0000319781" "0" "30" "4" "85731122" "85731122" "subst" "4.06263E-5" "01943" "WDFY3_000006" "g.85731122T>C" "" "" "" "WDFY3(NM_014991.4):c.2263A>G (p.I755V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84809969T>C" "" "likely benign" "" "0000319782" "0" "30" "4" "85704108" "85704108" "subst" "0.000997054" "01943" "WDFY3_000005" "g.85704108C>A" "" "" "" "WDFY3(NM_014991.4):c.4174+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84782955C>A" "" "likely benign" "" "0000319783" "0" "30" "4" "85687117" "85687117" "subst" "0.000357619" "01943" "WDFY3_000004" "g.85687117G>A" "" "" "" "WDFY3(NM_014991.4):c.5034C>T (p.H1678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84765964G>A" "" "likely benign" "" "0000319784" "0" "30" "4" "85600232" "85600232" "subst" "0.000105585" "01943" "WDFY3_000001" "g.85600232G>A" "" "" "" "WDFY3(NM_014991.4):c.9987C>T (p.D3329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84679079G>A" "" "likely benign" "" "0000523360" "0" "90" "4" "85654600" "85654600" "subst" "0" "02327" "WDFY3_000010" "g.85654600G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84733447G>A" "" "pathogenic" "" "0000523363" "0" "30" "4" "85781678" "85781678" "subst" "0.000154598" "01943" "WDFY3_000013" "g.85781678A>G" "" "" "" "WDFY3(NM_014991.4):c.67T>C (p.L23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84860525A>G" "" "likely benign" "" "0000670368" "11" "70" "4" "85748136" "85748136" "subst" "0" "00006" "WDFY3_000014" "g.85748136T>C" "" "{PMID:Vissers 2020:32553196}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000677322" "0" "70" "4" "85715885" "85715888" "del" "0" "02327" "WDFY3_000015" "g.85715885_85715888del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000677323" "0" "70" "4" "85752605" "85752605" "subst" "0" "02327" "WDFY3_000016" "g.85752605G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720028" "0" "50" "4" "85609342" "85609342" "subst" "8.12315E-6" "02329" "WDFY3_000009" "g.85609342C>T" "" "" "" "WDFY3(NM_014991.6):c.9440G>A (p.(Arg3147His), p.R3147H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801742" "0" "50" "4" "85664905" "85664905" "del" "0" "02325" "WDFY3_000017" "g.85664905del" "" "" "" "WDFY3(NM_014991.6):c.6022delT (p.Y2008Tfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801743" "0" "30" "4" "85715688" "85715688" "subst" "0" "01943" "WDFY3_000018" "g.85715688T>C" "" "" "" "WDFY3(NM_014991.4):c.3471A>G (p.E1157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859591" "0" "50" "4" "85699784" "85699784" "del" "0" "01804" "WDFY3_000019" "g.85699784del" "" "" "" "WDFY3(NM_014991.4):c.4392del (p.(Lys1464Asnfs*12))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000874411" "0" "70" "4" "85654600" "85654600" "subst" "0" "01164" "WDFY3_000010" "g.85654600G>A" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000886407" "0" "50" "4" "85600122" "85600122" "subst" "0" "01804" "WDFY3_000020" "g.85600122T>A" "" "" "" "WDFY3(NM_014991.4):c.10097A>T (p.(His3366Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886408" "0" "70" "4" "85625564" "85625564" "subst" "0" "02329" "WDFY3_000021" "g.85625564T>C" "" "" "" "WDFY3(NM_014991.6):c.8369A>G (p.Y2790C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000886409" "0" "50" "4" "85707179" "85707179" "subst" "0" "02325" "WDFY3_000022" "g.85707179T>G" "" "" "" "WDFY3(NM_014991.6):c.4015A>C (p.I1339L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886410" "0" "30" "4" "85742359" "85742359" "subst" "0.000240208" "02325" "WDFY3_000023" "g.85742359G>A" "" "" "" "WDFY3(NM_014991.6):c.1469C>T (p.T490I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886411" "0" "50" "4" "85752584" "85752584" "subst" "0" "02329" "WDFY3_000024" "g.85752584C>T" "" "" "" "WDFY3(NM_014991.6):c.751G>A (p.V251I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928944" "0" "30" "4" "85676433" "85676433" "subst" "0.000762935" "02325" "WDFY3_000025" "g.85676433T>C" "" "" "" "WDFY3(NM_014991.6):c.5545A>G (p.S1849G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928945" "0" "50" "4" "85687026" "85687026" "subst" "0" "02325" "WDFY3_000026" "g.85687026T>C" "" "" "" "WDFY3(NM_014991.6):c.5125A>G (p.S1709G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928946" "0" "50" "4" "85742698" "85742698" "subst" "8.24409E-6" "02325" "WDFY3_000027" "g.85742698C>T" "" "" "" "WDFY3(NM_014991.6):c.1130G>A (p.S377N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948374" "0" "70" "4" "85642600" "85642600" "del" "0" "02325" "WDFY3_000028" "g.85642600del" "" "" "" "WDFY3(NM_014991.6):c.7568delA (p.N2523Mfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000963251" "0" "30" "4" "85676502" "85676502" "subst" "4.09873E-5" "02325" "WDFY3_000029" "g.85676502C>T" "" "" "" "WDFY3(NM_014991.6):c.5476G>A (p.G1826R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963253" "0" "30" "4" "85738575" "85738575" "subst" "7.73521E-5" "02325" "WDFY3_000007" "g.85738575C>T" "" "" "" "WDFY3(NM_014991.4):c.1857G>A (p.T619=), WDFY3(NM_014991.6):c.1857G>A (p.T619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976391" "0" "50" "4" "85600191" "85600191" "subst" "0" "02325" "WDFY3_000030" "g.85600191T>C" "" "" "" "WDFY3(NM_014991.6):c.10028A>G (p.K3343R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976392" "0" "30" "4" "85609342" "85609342" "subst" "8.12315E-6" "01804" "WDFY3_000009" "g.85609342C>T" "" "" "" "WDFY3(NM_014991.6):c.9440G>A (p.(Arg3147His), p.R3147H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976393" "0" "50" "4" "85658379" "85658379" "subst" "0" "01804" "WDFY3_000031" "g.85658379G>A" "" "" "" "WDFY3(NM_014991.4):c.6715C>T (p.(Leu2239Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976394" "0" "50" "4" "85710874" "85710874" "subst" "4.06706E-6" "01804" "WDFY3_000032" "g.85710874C>T" "" "" "" "WDFY3(NM_014991.6):c.3669+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976395" "0" "50" "4" "85724474" "85724474" "subst" "0" "01804" "WDFY3_000033" "g.85724474A>C" "" "" "" "WDFY3(NM_014991.6):c.2576T>G (p.(Leu859Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994460" "0" "30" "4" "85600264" "85600264" "subst" "4.06197E-6" "01804" "WDFY3_000034" "g.85600264T>C" "" "" "" "WDFY3(NM_014991.4):c.9955A>G (p.(Thr3319Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994461" "0" "30" "4" "85603551" "85603551" "subst" "8.12334E-6" "01804" "WDFY3_000035" "g.85603551C>T" "" "" "" "WDFY3(NM_014991.4):c.9799G>A (p.(Glu3267Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994462" "0" "30" "4" "85605164" "85605164" "subst" "0" "01804" "WDFY3_000036" "g.85605164T>C" "" "" "" "WDFY3(NM_014991.4):c.9658A>G (p.(Met3220Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994463" "0" "30" "4" "85605229" "85605229" "subst" "3.66187E-5" "01804" "WDFY3_000037" "g.85605229T>C" "" "" "" "WDFY3(NM_014991.4):c.9593A>G (p.(Asn3198Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994464" "0" "50" "4" "85612824" "85612824" "subst" "3.65548E-5" "01804" "WDFY3_000038" "g.85612824G>A" "" "" "" "WDFY3(NM_014991.4):c.9164C>T (p.(Ala3055Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994465" "0" "50" "4" "85612850" "85612850" "subst" "2.84317E-5" "01804" "WDFY3_000039" "g.85612850C>A" "" "" "" "WDFY3(NM_014991.4):c.9138G>T (p.(Trp3046Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994466" "0" "10" "4" "85612894" "85612894" "subst" "0.0073052" "01804" "WDFY3_000040" "g.85612894T>C" "" "" "" "WDFY3(NM_014991.4):c.9094A>G (p.(Ile3032Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000994467" "0" "30" "4" "85614139" "85614139" "subst" "8.2056E-6" "01804" "WDFY3_000041" "g.85614139T>C" "" "" "" "WDFY3(NM_014991.4):c.8948A>G (p.(Asn2983Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994468" "0" "50" "4" "85617302" "85617302" "subst" "0" "01804" "WDFY3_000042" "g.85617302G>A" "" "" "" "WDFY3(NM_014991.4):c.8722C>T (p.(His2908Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994469" "0" "50" "4" "85661412" "85661412" "subst" "0" "01804" "WDFY3_000043" "g.85661412A>T" "" "" "" "WDFY3(NM_014991.4):c.6392T>A (p.(Leu2131Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994470" "0" "30" "4" "85674992" "85674992" "subst" "2.09998E-5" "01804" "WDFY3_000044" "g.85674992T>C" "" "" "" "WDFY3(NM_014991.4):c.5597A>G (p.(Glu1866Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994471" "0" "30" "4" "85678098" "85678098" "subst" "8.13273E-6" "01804" "WDFY3_000045" "g.85678098C>T" "" "" "" "WDFY3(NM_014991.4):c.5405G>A (p.(Arg1802Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994472" "0" "30" "4" "85678252" "85678252" "subst" "0.00128372" "02325" "WDFY3_000046" "g.85678252A>C" "" "" "" "WDFY3(NM_014991.6):c.5251T>G (p.C1751G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994473" "0" "70" "4" "85699655" "85699655" "subst" "0" "01804" "WDFY3_000047" "g.85699655C>T" "" "" "" "WDFY3(NM_014991.4):c.4518+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000994474" "0" "30" "4" "85701361" "85701361" "subst" "4.47456E-5" "01804" "WDFY3_000048" "g.85701361G>C" "" "" "" "WDFY3(NM_014991.4):c.4265C>G (p.(Ser1422Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994475" "0" "30" "4" "85715864" "85715864" "subst" "1.6268E-5" "01804" "WDFY3_000049" "g.85715864C>T" "" "" "" "WDFY3(NM_014991.4):c.3295G>A (p.(Gly1099Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994476" "0" "30" "4" "85716064" "85716064" "subst" "8.93416E-6" "01804" "WDFY3_000050" "g.85716064A>G" "" "" "" "WDFY3(NM_014991.4):c.3236T>C (p.(Ile1079Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994477" "0" "30" "4" "85722839" "85722839" "subst" "3.65979E-5" "01804" "WDFY3_000051" "g.85722839C>T" "" "" "" "WDFY3(NM_014991.4):c.2786G>A (p.(Arg929Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994478" "0" "30" "4" "85724466" "85724466" "subst" "2.87685E-5" "01804" "WDFY3_000052" "g.85724466C>T" "" "" "" "WDFY3(NM_014991.4):c.2584G>A (p.(Val862Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994479" "0" "30" "4" "85724552" "85724552" "subst" "0.000475281" "01804" "WDFY3_000053" "g.85724552T>C" "" "" "" "WDFY3(NM_014991.4):c.2498A>G (p.(His833Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994480" "0" "50" "4" "85731296" "85731296" "subst" "2.0348E-5" "01804" "WDFY3_000054" "g.85731296G>A" "" "" "" "WDFY3(NM_014991.4):c.2089C>T (p.(Arg697Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994481" "0" "30" "4" "85731354" "85731354" "subst" "0" "01804" "WDFY3_000055" "g.85731354G>T" "" "" "" "WDFY3(NM_014991.4):c.2031C>A (p.(Asn677Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994482" "0" "30" "4" "85781630" "85781630" "subst" "0" "01804" "WDFY3_000056" "g.85781630G>T" "" "" "" "WDFY3(NM_014991.4):c.115C>A (p.(Pro39Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017844" "11" "70" "4" "85612832" "85612832" "subst" "0" "04663" "WDFY3_000057" "g.85612832C>T" "" "{PMID:Graziani 2024:39614649}" "" "" "" "Germline" "yes" "" "0" "" "" "g.84691679C>T" "" "likely pathogenic (dominant)" "ACMG" "0001017873" "1" "90" "4" "85636503" "85636503" "subst" "0" "00006" "WDFY3_000058" "g.85636503G>A" "" "" "" "" "" "Germline" "yes" "rs1553924800" "0" "" "" "g.84715350G>A" "" "pathogenic (dominant)" "" "0001024948" "0" "50" "4" "85594032" "85594032" "subst" "2.03138E-5" "02325" "WDFY3_000059" "g.85594032G>A" "" "" "" "WDFY3(NM_014991.6):c.10570C>T (p.R3524*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024949" "0" "30" "4" "85598554" "85598554" "subst" "0" "02325" "WDFY3_000060" "g.85598554A>G" "" "" "" "WDFY3(NM_014991.6):c.10260-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024950" "0" "50" "4" "85600398" "85600398" "subst" "0" "02325" "WDFY3_000061" "g.85600398G>C" "" "" "" "WDFY3(NM_014991.6):c.9824-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024951" "0" "30" "4" "85687147" "85687147" "subst" "4.06702E-5" "02325" "WDFY3_000062" "g.85687147A>C" "" "" "" "WDFY3(NM_014991.6):c.5004T>G (p.F1668L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034700" "0" "30" "4" "85600239" "85600256" "del" "0" "01804" "WDFY3_000063" "g.85600239_85600256del" "" "" "" "WDFY3(NM_014991.6):c.9965_9982del (p.(Trp3322_Gly3327del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034701" "0" "50" "4" "85612822" "85612822" "subst" "0" "01804" "WDFY3_000064" "g.85612822C>T" "" "" "" "WDFY3(NM_014991.6):c.9166G>A (p.(Asp3056Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034702" "0" "30" "4" "85614029" "85614029" "subst" "7.76171E-5" "01804" "WDFY3_000065" "g.85614029T>C" "" "" "" "WDFY3(NM_014991.6):c.9049+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034703" "0" "30" "4" "85708829" "85708829" "subst" "2.03118E-5" "01804" "WDFY3_000066" "g.85708829G>A" "" "" "" "WDFY3(NM_014991.6):c.3707C>T (p.(Ser1236Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034704" "0" "30" "4" "85716113" "85716113" "subst" "5.55751E-5" "01804" "WDFY3_000067" "g.85716113A>C" "" "" "" "WDFY3(NM_014991.6):c.3187T>G (p.(Leu1063Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034705" "0" "50" "4" "85722861" "85722861" "subst" "0" "01804" "WDFY3_000068" "g.85722861G>A" "" "" "" "WDFY3(NM_014991.6):c.2764C>T (p.(Pro922Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034706" "0" "30" "4" "85724436" "85724436" "subst" "2.59139E-5" "01804" "WDFY3_000069" "g.85724436A>C" "" "" "" "WDFY3(NM_014991.6):c.2607+7T>G" "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 WDFY3 ## Count = 68 "{{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}}" "0000254329" "00022732" "30" "5430" "0" "5430" "0" "c.5430T>C" "r.(?)" "p.(Asp1810=)" "" "0000319780" "00022732" "30" "1857" "0" "1857" "0" "c.1857G>A" "r.(?)" "p.(Thr619=)" "" "0000319781" "00022732" "30" "2263" "0" "2263" "0" "c.2263A>G" "r.(?)" "p.(Ile755Val)" "" "0000319782" "00022732" "30" "4174" "8" "4174" "8" "c.4174+8G>T" "r.(=)" "p.(=)" "" "0000319783" "00022732" "30" "5034" "0" "5034" "0" "c.5034C>T" "r.(?)" "p.(His1678=)" "" "0000319784" "00022732" "30" "9987" "0" "9987" "0" "c.9987C>T" "r.(?)" "p.(Asp3329=)" "" "0000523360" "00022732" "90" "7156" "0" "7156" "0" "c.7156C>T" "r.(?)" "p.(Arg2386Ter)" "" "0000523363" "00022732" "30" "67" "0" "67" "0" "c.67T>C" "r.(?)" "p.(Leu23=)" "" "0000670368" "00022732" "70" "957" "-2" "957" "-2" "c.957-2A>G" "r.spl" "p.?" "" "0000677322" "00022732" "70" "3273" "0" "3276" "0" "c.3273_3276del" "r.(?)" "p.(Glu1091AspfsTer9)" "" "0000677323" "00022732" "70" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244Cys)" "" "0000720028" "00022732" "50" "9440" "0" "9440" "0" "c.9440G>A" "r.(?)" "p.(Arg3147His)" "" "0000801742" "00022732" "50" "6022" "0" "6022" "0" "c.6022del" "r.(?)" "p.(Tyr2008Thrfs*6)" "" "0000801743" "00022732" "30" "3471" "0" "3471" "0" "c.3471A>G" "r.(?)" "p.(Glu1157=)" "" "0000859591" "00022732" "50" "4392" "0" "4392" "0" "c.4392del" "r.(?)" "p.(Lys1464Asnfs*12)" "" "0000874411" "00022732" "70" "7156" "0" "7156" "0" "c.7156C>T" "r.(?)" "p.(Arg2386*)" "" "0000886407" "00022732" "50" "10097" "0" "10097" "0" "c.10097A>T" "r.(?)" "p.(His3366Leu)" "" "0000886408" "00022732" "70" "8369" "0" "8369" "0" "c.8369A>G" "r.(?)" "p.(Tyr2790Cys)" "" "0000886409" "00022732" "50" "4015" "0" "4015" "0" "c.4015A>C" "r.(?)" "p.(Ile1339Leu)" "" "0000886410" "00022732" "30" "1469" "0" "1469" "0" "c.1469C>T" "r.(?)" "p.(Thr490Ile)" "" "0000886411" "00022732" "50" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Val251Ile)" "" "0000928944" "00022732" "30" "5545" "0" "5545" "0" "c.5545A>G" "r.(?)" "p.(Ser1849Gly)" "" "0000928945" "00022732" "50" "5125" "0" "5125" "0" "c.5125A>G" "r.(?)" "p.(Ser1709Gly)" "" "0000928946" "00022732" "50" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Ser377Asn)" "" "0000948374" "00022732" "70" "7568" "0" "7568" "0" "c.7568del" "r.(?)" "p.(Asn2523Metfs*8)" "" "0000963251" "00022732" "30" "5476" "0" "5476" "0" "c.5476G>A" "r.(?)" "p.(Gly1826Arg)" "" "0000963253" "00022732" "30" "1857" "0" "1857" "0" "c.1857G>A" "r.(?)" "p.(Thr619=)" "" "0000976391" "00022732" "50" "10028" "0" "10028" "0" "c.10028A>G" "r.(?)" "p.(Lys3343Arg)" "" "0000976392" "00022732" "30" "9440" "0" "9440" "0" "c.9440G>A" "r.(?)" "p.(Arg3147His)" "" "0000976393" "00022732" "50" "6715" "0" "6715" "0" "c.6715C>T" "r.(?)" "p.(Leu2239Phe)" "" "0000976394" "00022732" "50" "3669" "5" "3669" "5" "c.3669+5G>A" "r.spl?" "p.?" "" "0000976395" "00022732" "50" "2576" "0" "2576" "0" "c.2576T>G" "r.(?)" "p.(Leu859Arg)" "" "0000994460" "00022732" "30" "9955" "0" "9955" "0" "c.9955A>G" "r.(?)" "p.(Thr3319Ala)" "" "0000994461" "00022732" "30" "9799" "0" "9799" "0" "c.9799G>A" "r.(?)" "p.(Glu3267Lys)" "" "0000994462" "00022732" "30" "9658" "0" "9658" "0" "c.9658A>G" "r.(?)" "p.(Met3220Val)" "" "0000994463" "00022732" "30" "9593" "0" "9593" "0" "c.9593A>G" "r.(?)" "p.(Asn3198Ser)" "" "0000994464" "00022732" "50" "9164" "0" "9164" "0" "c.9164C>T" "r.(?)" "p.(Ala3055Val)" "" "0000994465" "00022732" "50" "9138" "0" "9138" "0" "c.9138G>T" "r.(?)" "p.(Trp3046Cys)" "" "0000994466" "00022732" "10" "9094" "0" "9094" "0" "c.9094A>G" "r.(?)" "p.(Ile3032Val)" "" "0000994467" "00022732" "30" "8948" "0" "8948" "0" "c.8948A>G" "r.(?)" "p.(Asn2983Ser)" "" "0000994468" "00022732" "50" "8722" "0" "8722" "0" "c.8722C>T" "r.(?)" "p.(His2908Tyr)" "" "0000994469" "00022732" "50" "6392" "0" "6392" "0" "c.6392T>A" "r.(?)" "p.(Leu2131Gln)" "" "0000994470" "00022732" "30" "5597" "0" "5597" "0" "c.5597A>G" "r.(?)" "p.(Glu1866Gly)" "" "0000994471" "00022732" "30" "5405" "0" "5405" "0" "c.5405G>A" "r.(?)" "p.(Arg1802Gln)" "" "0000994472" "00022732" "30" "5251" "0" "5251" "0" "c.5251T>G" "r.(?)" "p.(Cys1751Gly)" "" "0000994473" "00022732" "70" "4518" "1" "4518" "1" "c.4518+1G>A" "r.spl?" "p.?" "" "0000994474" "00022732" "30" "4265" "0" "4265" "0" "c.4265C>G" "r.(?)" "p.(Ser1422Cys)" "" "0000994475" "00022732" "30" "3295" "0" "3295" "0" "c.3295G>A" "r.(?)" "p.(Gly1099Ser)" "" "0000994476" "00022732" "30" "3236" "0" "3236" "0" "c.3236T>C" "r.(?)" "p.(Ile1079Thr)" "" "0000994477" "00022732" "30" "2786" "0" "2786" "0" "c.2786G>A" "r.(?)" "p.(Arg929Gln)" "" "0000994478" "00022732" "30" "2584" "0" "2584" "0" "c.2584G>A" "r.(?)" "p.(Val862Ile)" "" "0000994479" "00022732" "30" "2498" "0" "2498" "0" "c.2498A>G" "r.(?)" "p.(His833Arg)" "" "0000994480" "00022732" "50" "2089" "0" "2089" "0" "c.2089C>T" "r.(?)" "p.(Arg697Cys)" "" "0000994481" "00022732" "30" "2031" "0" "2031" "0" "c.2031C>A" "r.(?)" "p.(Asn677Lys)" "" "0000994482" "00022732" "30" "115" "0" "115" "0" "c.115C>A" "r.(?)" "p.(Pro39Thr)" "" "0001017844" "00022732" "70" "9156" "0" "9156" "0" "c.9156G>A" "r.(?)" "p.(Trp3052*)" "60" "0001017873" "00022732" "90" "7909" "0" "7909" "0" "c.7909C>T" "r.(7909c>u)" "p.(Arg2637Trp)" "" "0001024948" "00022732" "50" "10570" "0" "10570" "0" "c.10570C>T" "r.(?)" "p.(Arg3524*)" "" "0001024949" "00022732" "30" "10260" "-5" "10260" "-5" "c.10260-5T>C" "r.spl?" "p.?" "" "0001024950" "00022732" "50" "9824" "-3" "9824" "-3" "c.9824-3C>G" "r.spl?" "p.?" "" "0001024951" "00022732" "30" "5004" "0" "5004" "0" "c.5004T>G" "r.(?)" "p.(Phe1668Leu)" "" "0001034700" "00022732" "30" "9965" "0" "9982" "0" "c.9965_9982del" "r.(?)" "p.(Trp3322_Gly3327del)" "" "0001034701" "00022732" "50" "9166" "0" "9166" "0" "c.9166G>A" "r.(?)" "p.(Asp3056Asn)" "" "0001034702" "00022732" "30" "9049" "9" "9049" "9" "c.9049+9A>G" "r.(=)" "p.(=)" "" "0001034703" "00022732" "30" "3707" "0" "3707" "0" "c.3707C>T" "r.(?)" "p.(Ser1236Leu)" "" "0001034704" "00022732" "30" "3187" "0" "3187" "0" "c.3187T>G" "r.(?)" "p.(Leu1063Val)" "" "0001034705" "00022732" "50" "2764" "0" "2764" "0" "c.2764C>T" "r.(?)" "p.(Pro922Ser)" "" "0001034706" "00022732" "30" "2607" "7" "2607" "7" "c.2607+7T>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000306655" "0000670368" "0000416366" "0000874411" "0000459729" "0001017844" "0000459756" "0001017873"