### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZMYM3) # 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}}" "ZMYM3" "zinc finger, MYM-type 3" "X" "q13.1" "unknown" "NG_016407.1" "UD_132084415163" "" "https://www.LOVD.nl/ZMYM3" "" "1" "13054" "9203" "300061" "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/ZMYM3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2018-08-17 18:05:30" "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}}" "00025745" "ZMYM3" "transcript variant 1" "004" "NM_201599.2" "" "NP_963893.1" "" "" "" "-179" "5405" "4113" "70474038" "70459474" "00006" "2022-10-04 16:11:04" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "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" "01937" "MPS4A" "mucopolysaccharidosis, type IVA (MPS-4A)" "AR" "253000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 34 "{{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" "" "" "" "" "00173387" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173388" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00311162" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "M" "" "" "" "0" "" "" "" "B1287-21" "00311163" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "M" "" "" "" "0" "" "" "" "B2323-21" "00399156" "" "" "" "3" "" "00006" "{PMID:Philips 2014:24721225}" "3-generation family, 3 affected (3M), unaffected heterozygous carrier mother" "M" "" "Finland" "" "0" "" "" "" "FamD222" "00418697" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "" "" "0" "" "" "" "Fam1" "00418698" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, carrier mother history of learning disability" "M" "" "" "" "0" "" "" "" "Fam2" "00418699" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "" "" "0" "" "" "" "Fam3" "00418700" "" "" "" "2" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 2 affected brothers, unaffected carrier mother" "M" "" "" "" "0" "" "" "" "Fam4PatA" "00418701" "" "" "00418700" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "brother" "M" "" "" "" "0" "" "" "" "Fam4PatB" "00418702" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "" "" "0" "" "" "" "Fam5" "00418703" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, carrier mother attention deficit-hyperactivity disorder" "M" "" "" "" "0" "" "" "" "Fam6" "00418704" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "" "" "0" "" "" "" "Fam7" "00418705" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, carrier mother history of learning disability" "M" "" "" "" "0" "" "" "" "Fam8" "00418706" "" "" "" "2" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 2 affected brothers, unaffected carrier mother" "M" "yes" "" "" "0" "" "" "" "Fam9PatA" "00418707" "" "" "00418706" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "brother" "M" "yes" "" "" "0" "" "" "" "Fam9PatB" "00418708" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, carrier mother history of dyslexia" "M" "" "" "" "0" "" "" "" "Fam10" "00418709" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "" "" "0" "" "" "" "Fam11" "00418710" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "" "" "0" "" "" "" "Fam12" "00418711" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Fam13" "00418712" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Fam14" "00418713" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Fam15" "00418714" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Fam16" "00418715" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "" "" "0" "" "" "" "Fam17" "00418716" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected carrier mother" "F" "" "" "" "0" "" "" "" "Fam18" "00418717" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Fam19" "00418718" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Fam20" "00428767" "" "" "" "1" "" "00006" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat21" "00428768" "" "" "" "2" "" "00006" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 2 affected (sister/brother), unaffected parents" "M" "" "" "" "0" "" "" "" "Pat22" "00428769" "" "" "" "1" "" "00006" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat23" "00428770" "" "" "" "2" "" "00006" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 2 affected, boy and affected carrier mother" "M" "" "" "" "0" "" "" "" "Pat24" "00428771" "" "" "" "1" "" "00006" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "" "" "0" "" "" "" "Pat25" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 35 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173387" "00187" "00173388" "00187" "00311162" "05342" "00311163" "05342" "00399156" "00139" "00418697" "05611" "00418698" "05611" "00418699" "05611" "00418700" "05611" "00418701" "05611" "00418702" "05611" "00418703" "05611" "00418704" "01937" "00418704" "05611" "00418705" "05611" "00418706" "05611" "00418707" "05611" "00418708" "05611" "00418709" "05611" "00418710" "05611" "00418711" "05611" "00418712" "05611" "00418713" "05611" "00418714" "05611" "00418715" "05611" "00418716" "05611" "00418717" "05611" "00418718" "05611" "00428767" "05611" "00428768" "05611" "00428769" "05611" "00428770" "05611" "00428771" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 01157, 01937, 05342, 05611 ## Count = 34 "{{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" "" "" "" "" "" "" "" "0000138251" "00187" "00173387" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138252" "00187" "00173388" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000236417" "05342" "00311162" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CAKUT" "0000236418" "05342" "00311163" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CAKUT" "0000292244" "00139" "00399156" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "0000309996" "05611" "00418697" "00006" "Familial, X-linked recessive" "" "speech delay; motor delay; no behavioral problems; no facial dysmorphism; urinary tract dilatation of left kidney on ultrasound; congenital heart defects" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000309997" "05611" "00418698" "00006" "Familial, X-linked recessive" "" "speech delay; motor delay; no intellectual disability; no autism spectrum disorder; no behavioral problems; facial dysmorphism; no genitourinary anomalies; history of growth hormone resistance and IGF1 deficiency (basis unknown), fasting and heat intolerance, excessive fatigue" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000309998" "05611" "00418699" "00006" "Familial, X-linked recessive" "" "speech delay; motor delay; autism spectrum disorder; behavioral problems; facial dysmorphism; pielonephritis, vesicoureteral reflux; gastroesophageal reflux disease" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000309999" "05611" "00418700" "00006" "Familial, X-linked recessive" "" "speech delay; motor delay; intellectual disability; autism spectrum disorder; behavioral problems; facial dysmorphism; hypospadias" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310000" "05611" "00418701" "00006" "Familial, X-linked recessive" "" "speech delay; no motor delay; intellectual disability; autism spectrum disorder; behavioral problems; facial dysmorphism; no genitourinary anomalies" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310001" "05611" "00418702" "00006" "Familial, X-linked recessive" "" "speech delay; motor delay; intellectual disability; autism spectrum disorder; behavioral problems; no facial dysmorphism; no genitourinary anomalies; weight <1%ile" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310002" "05611" "00418703" "00006" "Familial, X-linked recessive" "" "speech delay; motor delay; intellectual disability; autism spectrum disorder; behavioral problems; facial dysmorphism; single renal cyst; constipation" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310003" "05611" "00418704" "00006" "Familial, X-linked recessive" "" "speech delay; motor delay; intellectual disability; autism spectrum disorder; behavioral problems; facial dysmorphism; cryptorchidism, enuresis; short stature; mild features MPS4A (skeletal phenotype) caused by GALNS variants" "" "" "" "" "" "" "" "" "NDD;MPS4A" "neurodevelopmental delay" "0000310004" "05611" "00418705" "00006" "Familial, X-linked recessive" "" "speech delay; motor delay; intellectual disability; autism spectrum disorder; behavioral problems; facial dysmorphism; hypospadias, ambiguous genitalia; short stature" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310005" "05611" "00418706" "00006" "Familial, X-linked recessive" "" "speech delay; no motor delay; intellectual disability; autism spectrum disorder; behavioral problems; facial dysmorphism; no genitourinary anomalies" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310006" "05611" "00418707" "00006" "Familial, X-linked recessive" "" "speech delay; no motor delay; intellectual disability; autism spectrum disorder; behavioral problems; facial dysmorphism; no genitourinary anomalies" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310007" "05611" "00418708" "00006" "Familial, X-linked recessive" "" "speech delay; no motor delay; behavioral problems; facial dysmorphism; no genitourinary anomalies; gastroesophageal reflux disease, constipation" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310008" "05611" "00418709" "00006" "Familial, X-linked recessive" "" "speech delay; no motor delay; intellectual disability; no autism spectrum disorder; behavioral problems; facial dysmorphism; ectopic kidney; short stature, kyphoscoliosis" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310009" "05611" "00418710" "00006" "Familial, X-linked recessive" "" "speech delay; motor delay; intellectual disability; no autism spectrum disorder; behavioral problems; facial dysmorphism; no genitourinary anomalies; microcephaly" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310010" "05611" "00418711" "00006" "Isolated (sporadic)" "" "speech delay; motor delay; intellectual disability; no autism spectrum disorder; behavioral problems; facial dysmorphism; cryptorchidism; microcephaly, short stature, weight <3%ile, kyphosis, long bone defects, Madelung deformity;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310011" "05611" "00418712" "00006" "Unknown" "" "speech delay; motor delay; intellectual disability; no autism spectrum disorder; no behavioral problems; no facial dysmorphism; enuresis; microcephaly, scoliosis, reflux" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310012" "05611" "00418713" "00006" "Isolated (sporadic)" "" "speech delay; motor delay; intellectual disability; autism spectrum disorder; behavioral problems; facial dysmorphism; no genitourinary anomalies; microcephaly, scoliosis" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310013" "05611" "00418714" "00006" "Isolated (sporadic)" "" "deceased" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310014" "05611" "00418715" "00006" "Familial, X-linked recessive" "" "speech delay; motor delay; no intellectual disability; autism spectrum disorder; behavioral problems; no facial dysmorphism; no genitourinary anomalies; GI dysmotility, joint laxity, pain and swelling, dysautonomic symptoms" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310015" "05611" "00418716" "00006" "Familial, X-linked recessive" "" "speech delay; motor delay; no behavioral problems; facial dysmorphism; no genitourinary anomalies; gastroesophageal reflux disease" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310016" "05611" "00418717" "00006" "Isolated (sporadic)" "" "speech delay; motor delay; no behavioral problems; facial dysmorphism; no genitourinary anomalies" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000310017" "05611" "00418718" "00006" "Isolated (sporadic)" "" "speech delay; motor delay; facial dysmorphism; pyelectasis; volvulus of midgut, pancreatic cysts" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000319651" "05611" "00428767" "00006" "Familial, X-linked" "18y02m" "see paper; ..., speech delay, no motor delay, intellectual disability, autistic traits, behavioral problems, dysmorphism, hypospadias" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000319652" "05611" "00428768" "00006" "Familial, X-linked" "04y" "see paper; ..., speech delay, no motor delay, intellectual disability, autistic traits, no behavioral problems, dysmorphism, no genitourinary anomalies; mild short stature" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000319653" "05611" "00428769" "00006" "Isolated (sporadic)" "16y" "see paper; ..., speech delay, motor delay, no intellectual disability, no autistic traits, behavioral problems, dysmorphism, genitourinary anomalies (vesicoureteral reflux); short stature, microcephaly, myopia, retinopathy, GI dysmotility" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000319654" "05611" "00428770" "00006" "Familial, X-linked dominant" "08y" "see paper; ..., speech delay, motor delay, intellectual disability, autistic traits, no behavioral problems, dysmorphism, no genitourinary anomalies; mother ADHD, history of delays" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000319655" "05611" "00428771" "00006" "Familial, X-linked" "08y06m" "see paper; ..., speech delay, no motor delay, intellectual disability, autistic traits, behavioral problems, no dysmorphism, no genitourinary anomalies" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 34 "{{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" "" "" "0000174270" "00173387" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174271" "00173388" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000312316" "00311162" "1" "00006" "00006" "2020-09-19 20:49:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312317" "00311163" "1" "00006" "00006" "2020-09-19 20:49:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400400" "00399156" "1" "00006" "00006" "2022-01-17 12:36:52" "" "" "SEQ;SEQ-NG" "DNA" "" "X-WES" "0000419992" "00418697" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "panel" "0000419993" "00418698" "1" "00006" "00006" "2022-10-04 17:07:48" "00006" "2023-01-10 14:38:52" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES" "0000419994" "00418699" "1" "00006" "00006" "2022-10-04 17:07:48" "00006" "2023-01-10 14:29:25" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES" "0000419995" "00418700" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419996" "00418701" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419997" "00418702" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "panel" "0000419998" "00418703" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419999" "00418704" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420000" "00418705" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420001" "00418706" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420002" "00418707" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420003" "00418708" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420004" "00418709" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000420005" "00418710" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420006" "00418711" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420007" "00418712" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "panel" "0000420008" "00418713" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "panel" "0000420009" "00418714" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES/WGS" "0000420010" "00418715" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420011" "00418716" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420012" "00418717" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "panel" "0000420013" "00418718" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000430180" "00428767" "1" "00006" "00006" "2023-01-09 21:28:12" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000430181" "00428768" "1" "00006" "00006" "2023-01-09 21:33:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000430182" "00428769" "1" "00006" "00006" "2023-01-10 13:48:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000430183" "00428770" "1" "00006" "00006" "2023-01-10 13:55:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000430184" "00428771" "1" "00006" "00006" "2023-01-10 13:58:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000174270" "ZNF81" "0000174271" "ATP11C" "0000312316" "ZMYM3" "0000312317" "ZMYM3" ## 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 = 56 "{{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}}" "0000003040" "0" "50" "X" "70465000" "70465001" "del" "0" "00037" "ZMYM3_000005" "g.70465000_70465001del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71245150_71245151del" "" "VUS" "" "0000007137" "20" "50" "X" "70469182" "70469182" "subst" "0" "00037" "ZMYM3_000002" "g.70469182G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71249332G>A" "" "VUS" "" "0000009224" "20" "50" "X" "70469182" "70469182" "subst" "0" "00037" "ZMYM3_000002" "g.70469182G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71249332G>A" "" "VUS" "" "0000313763" "0" "50" "X" "70468552" "70468552" "subst" "0" "02329" "ZMYM3_000010" "g.70468552C>A" "" "" "" "ZMYM3(NM_001171162.1):c.1721G>T (p.C574F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71248702C>A" "" "VUS" "" "0000320213" "0" "10" "X" "70472963" "70472963" "subst" "0" "01943" "ZMYM3_000014" "g.70472963G>C" "" "" "" "ZMYM3(NM_001171162.1):c.143C>G (p.P48R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71253113G>C" "" "benign" "" "0000320214" "0" "30" "X" "70465304" "70465304" "subst" "5.18448E-5" "01943" "ZMYM3_000006" "g.70465304G>A" "" "" "" "ZMYM3(NM_001171162.1):c.2856C>T (p.L952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71245454G>A" "" "likely benign" "" "0000320215" "0" "30" "X" "70472733" "70472733" "subst" "5.79909E-6" "01943" "ZMYM3_000013" "g.70472733G>A" "" "" "" "ZMYM3(NM_001171162.1):c.373C>T (p.P125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71252883G>A" "" "likely benign" "" "0000320216" "0" "50" "X" "70472537" "70472537" "subst" "2.5652E-5" "01943" "ZMYM3_000012" "g.70472537G>A" "" "" "" "ZMYM3(NM_001171162.1):c.569C>T (p.P190L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71252687G>A" "" "VUS" "" "0000334580" "0" "50" "X" "70467669" "70467669" "subst" "0" "01804" "ZMYM3_000009" "g.70467669C>T" "" "" "" "ZMYM3(NM_001171162.1):c.2063G>A (p.R688H), ZMYM3(NM_201599.2):c.2063G>A (p.(Arg688His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71247819C>T" "" "VUS" "" "0000334581" "0" "50" "X" "70469321" "70469321" "subst" "0" "01804" "ZMYM3_000011" "g.70469321G>A" "" "" "" "ZMYM3(NM_001171162.1):c.1460C>T (p.(Ala487Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71249471G>A" "" "VUS" "" "0000348608" "0" "50" "X" "70465837" "70465837" "subst" "0" "02327" "ZMYM3_000015" "g.70465837G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71245987G>A" "" "VUS" "" "0000349100" "0" "30" "X" "70468555" "70468555" "subst" "0" "02327" "ZMYM3_000016" "g.70468555C>T" "" "" "" "ZMYM3(NM_001171162.1):c.1718G>A (p.S573N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71248705C>T" "" "likely benign" "" "0000401430" "1" "30" "X" "70460934" "70460934" "subst" "0.00418595" "00124" "ZMYM3_000018" "g.70460934G>A" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "N1315N" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.71241084G>A" "" "likely benign" "" "0000401431" "1" "30" "X" "70460814" "70460814" "subst" "0.000977638" "00124" "ZMYM3_000017" "g.70460814G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "R1355R" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.71240964G>A" "" "likely benign" "" "0000577280" "0" "50" "X" "70467669" "70467669" "subst" "0" "01943" "ZMYM3_000009" "g.70467669C>T" "" "" "" "ZMYM3(NM_001171162.1):c.2063G>A (p.R688H), ZMYM3(NM_201599.2):c.2063G>A (p.(Arg688His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71247819C>T" "" "VUS" "" "0000577281" "0" "30" "X" "70468555" "70468555" "subst" "0" "01943" "ZMYM3_000016" "g.70468555C>T" "" "" "" "ZMYM3(NM_001171162.1):c.1718G>A (p.S573N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71248705C>T" "" "likely benign" "" "0000577283" "0" "50" "X" "70471040" "70471040" "subst" "0" "02325" "ZMYM3_000023" "g.70471040A>C" "" "" "" "ZMYM3(NM_001171162.1):c.766T>G (p.S256A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71251190A>C" "" "VUS" "" "0000577284" "0" "30" "X" "70471401" "70471401" "subst" "0" "01804" "ZMYM3_000024" "g.70471401C>T" "" "" "" "ZMYM3(NM_001171162.1):c.711+7G>A (p.(=)), ZMYM3(NM_201599.3):c.711+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71251551C>T" "" "likely benign" "" "0000624703" "0" "50" "X" "70469459" "70469459" "subst" "0" "01943" "ZMYM3_000026" "g.70469459C>T" "" "" "" "ZMYM3(NM_001171162.1):c.1322G>A (p.R441Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71249609C>T" "" "VUS" "" "0000693713" "0" "30" "X" "70469903" "70469903" "subst" "0" "01943" "ZMYM3_000029" "g.70469903G>A" "" "" "" "ZMYM3(NM_001171162.1):c.1224C>T (p.R408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693898" "0" "70" "X" "70467714" "70467714" "subst" "6.11464E-6" "00006" "ZMYM3_000028" "g.70467714C>T" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.71247864C>T" "" "likely pathogenic" "" "0000693899" "0" "70" "X" "70465925" "70465925" "subst" "0" "00006" "ZMYM3_000027" "g.70465925C>T" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.71246075C>T" "" "likely pathogenic" "" "0000729156" "0" "30" "X" "70472580" "70472580" "subst" "0" "01943" "ZMYM3_000030" "g.70472580C>T" "" "" "" "ZMYM3(NM_001171162.1):c.526G>A (p.E176K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000833349" "21" "90" "X" "70469460" "70469460" "subst" "0" "00006" "ZMYM3_000031" "g.70469460G>A" "" "{PMID:Philips 2014:24721225}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000880221" "21" "90" "X" "70472901" "70472901" "subst" "0" "00006" "ZMYM3_000047" "g.70472901C>T" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71253051C>T" "" "likely pathogenic" "" "0000880222" "21" "90" "X" "70471085" "70471085" "subst" "0" "00006" "ZMYM3_000045" "g.70471085C>T" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71251235C>T" "" "likely pathogenic" "" "0000880223" "21" "90" "X" "70470450" "70470450" "subst" "0" "00006" "ZMYM3_000044" "g.70470450C>T" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71250600C>T" "" "likely pathogenic" "" "0000880224" "21" "90" "X" "70469944" "70469944" "subst" "0" "00006" "ZMYM3_000043" "g.70469944G>T" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71250094G>T" "" "likely pathogenic" "" "0000880225" "21" "90" "X" "70469944" "70469944" "subst" "0" "00006" "ZMYM3_000043" "g.70469944G>T" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71250094G>T" "" "likely pathogenic" "" "0000880226" "21" "90" "X" "70469935" "70469935" "subst" "0" "00006" "ZMYM3_000042" "g.70469935G>A" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71250085G>A" "" "likely pathogenic" "" "0000880227" "21" "90" "X" "70469459" "70469459" "subst" "0" "00006" "ZMYM3_000026" "g.70469459C>T" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71249609C>T" "" "likely pathogenic" "" "0000880228" "21" "90" "X" "70469459" "70469459" "subst" "0" "00006" "ZMYM3_000026" "g.70469459C>T" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71249609C>T" "" "likely pathogenic" "" "0000880229" "21" "90" "X" "70469459" "70469459" "subst" "0" "00006" "ZMYM3_000026" "g.70469459C>T" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71249609C>T" "" "likely pathogenic" "" "0000880230" "21" "90" "X" "70467316" "70467316" "subst" "0" "00006" "ZMYM3_000041" "g.70467316C>G" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71247466C>G" "" "likely pathogenic" "" "0000880231" "21" "90" "X" "70467316" "70467316" "subst" "0" "00006" "ZMYM3_000041" "g.70467316C>G" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71247466C>G" "" "likely pathogenic" "" "0000880232" "21" "90" "X" "70465584" "70465584" "subst" "0" "00006" "ZMYM3_000039" "g.70465584T>C" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71245734T>C" "" "likely pathogenic" "" "0000880233" "21" "90" "X" "70463740" "70463740" "subst" "5.59337E-6" "00006" "ZMYM3_000038" "g.70463740C>T" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71243890C>T" "" "likely pathogenic" "" "0000880234" "21" "90" "X" "70463702" "70463702" "subst" "0" "00006" "ZMYM3_000037" "g.70463702A>T" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71243852A>T" "" "likely pathogenic" "" "0000880235" "0" "90" "X" "70462217" "70462217" "subst" "0" "00006" "ZMYM3_000036" "g.70462217A>T" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.71242367A>T" "" "likely pathogenic" "" "0000880236" "0" "90" "X" "70462184" "70462184" "subst" "0" "00006" "ZMYM3_000035" "g.70462184A>G" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.71242334A>G" "" "likely pathogenic" "" "0000880237" "0" "90" "X" "70461177" "70461177" "subst" "0" "00006" "ZMYM3_000034" "g.70461177G>A" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.71241327G>A" "" "likely pathogenic" "" "0000880238" "0" "90" "X" "70461117" "70461117" "subst" "0" "00006" "ZMYM3_000033" "g.70461117G>A" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.71241267G>A" "" "likely pathogenic" "" "0000880239" "21" "90" "X" "70460850" "70460850" "subst" "0" "00006" "ZMYM3_000032" "g.70460850C>T" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71241000C>T" "" "likely pathogenic" "" "0000880240" "21" "90" "X" "70471446" "70471449" "dup" "0" "00006" "ZMYM3_000046" "g.70471446_70471449dup" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "671_674dupATGG" "" "Germline" "" "" "0" "skewed X-inactivation" "" "g.71251596_71251599dup" "" "likely pathogenic" "" "0000880241" "0" "90" "X" "70467254" "70467254" "subst" "0" "00006" "ZMYM3_000040" "g.70467254T>C" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.71247404T>C" "" "likely pathogenic" "" "0000880242" "0" "90" "X" "70461117" "70461117" "subst" "0" "00006" "ZMYM3_000033" "g.70461117G>A" "" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "De novo" "" "" "0" "skewed X-inactivation" "" "g.71241267G>A" "" "likely pathogenic" "" "0000896345" "0" "50" "X" "70460945" "70460945" "subst" "0" "02325" "ZMYM3_000048" "g.70460945G>A" "" "" "" "ZMYM3(NM_201599.3):c.3934C>T (p.R1312W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909962" "0" "90" "X" "70472599" "70472599" "subst" "0" "00006" "ZMYM3_000049" "g.70472599T>A" "" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.71252749T>A" "" "likely pathogenic" "" "0000909963" "0" "70" "X" "70469460" "70469460" "subst" "0" "00006" "ZMYM3_000031" "g.70469460G>A" "" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.71249610G>A" "" "likely pathogenic" "" "0000909967" "0" "90" "X" "70469421" "70469421" "subst" "0" "00006" "ZMYM3_000050" "g.70469421A>G" "" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.71249571A>G" "" "likely pathogenic" "" "0000909968" "21" "90" "X" "70462849" "70462849" "subst" "0" "00006" "ZMYM3_000051" "g.70462849C>T" "" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71242999C>T" "" "likely pathogenic" "" "0000909969" "21" "90" "X" "70460909" "70460909" "subst" "0" "00006" "ZMYM3_000052" "g.70460909G>A" "" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.71241059G>A" "" "likely pathogenic" "" "0000927414" "0" "30" "X" "70471401" "70471401" "subst" "0" "02325" "ZMYM3_000024" "g.70471401C>T" "" "" "" "ZMYM3(NM_001171162.1):c.711+7G>A (p.(=)), ZMYM3(NM_201599.3):c.711+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027527" "0" "50" "X" "70464310" "70464310" "subst" "0" "02325" "ZMYM3_000053" "g.70464310C>T" "" "" "" "ZMYM3(NM_201599.3):c.3122G>A (p.R1041Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044480" "0" "50" "X" "70466331" "70466331" "subst" "0" "02329" "ZMYM3_000054" "g.70466331G>T" "" "" "" "ZMYM3(NM_001171162.1):c.2408C>A (p.A803D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044481" "0" "50" "X" "70469502" "70469502" "subst" "0" "01804" "ZMYM3_000055" "g.70469502C>T" "" "" "" "ZMYM3(NM_201599.3):c.1279G>A (p.(Val427Met))" "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 ZMYM3 ## Count = 56 "{{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}}" "0000003040" "00025745" "50" "3007" "188" "3007" "189" "c.3007+188_3007+189del" "r.(=)" "p.(=)" "" "0000007137" "00025745" "50" "1470" "129" "1470" "129" "c.1470+129C>T" "r.(=)" "p.(=)" "" "0000009224" "00025745" "50" "1470" "129" "1470" "129" "c.1470+129C>T" "r.(=)" "p.(=)" "" "0000313763" "00025745" "50" "1721" "0" "1721" "0" "c.1721G>T" "r.(?)" "p.(Cys574Phe)" "" "0000320213" "00025745" "10" "143" "0" "143" "0" "c.143C>G" "r.(?)" "p.(Pro48Arg)" "" "0000320214" "00025745" "30" "2892" "0" "2892" "0" "c.2892C>T" "r.(?)" "p.(Leu964=)" "" "0000320215" "00025745" "30" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Pro125Ser)" "" "0000320216" "00025745" "50" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Pro190Leu)" "" "0000334580" "00025745" "50" "2063" "0" "2063" "0" "c.2063G>A" "r.(?)" "p.(Arg688His)" "" "0000334581" "00025745" "50" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Ala487Val)" "" "0000348608" "00025745" "50" "2684" "0" "2684" "0" "c.2684C>T" "r.(?)" "p.(Pro895Leu)" "" "0000349100" "00025745" "30" "1718" "0" "1718" "0" "c.1718G>A" "r.(?)" "p.(Ser573Asn)" "" "0000401430" "00025745" "30" "3945" "0" "3945" "0" "c.3945C>T" "r.(?)" "p.(Asn1315=)" "" "0000401431" "00025745" "30" "4065" "0" "4065" "0" "c.4065C>T" "r.(?)" "p.(Arg1355=)" "" "0000577280" "00025745" "50" "2063" "0" "2063" "0" "c.2063G>A" "r.(?)" "p.(Arg688His)" "" "0000577281" "00025745" "30" "1718" "0" "1718" "0" "c.1718G>A" "r.(?)" "p.(Ser573Asn)" "" "0000577283" "00025745" "50" "766" "0" "766" "0" "c.766T>G" "r.(?)" "p.(Ser256Ala)" "" "0000577284" "00025745" "30" "711" "7" "711" "7" "c.711+7G>A" "r.(=)" "p.(=)" "" "0000624703" "00025745" "50" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441Gln)" "" "0000693713" "00025745" "30" "1224" "0" "1224" "0" "c.1224C>T" "r.(?)" "p.(Arg408=)" "" "0000693898" "00025745" "70" "2018" "0" "2018" "0" "c.2018G>A" "r.(?)" "p.(Gly673Asp)" "" "0000693899" "00025745" "70" "2596" "0" "2596" "0" "c.2596G>A" "r.(?)" "p.(Val866Met)" "" "0000729156" "00025745" "30" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Glu176Lys)" "" "0000833349" "00025745" "90" "1321" "0" "1321" "0" "c.1321C>T" "r.(?)" "p.(Arg441Trp)" "" "0000880221" "00025745" "90" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Asp69Asn)" "" "0000880222" "00025745" "90" "721" "0" "721" "0" "c.721G>A" "r.(?)" "p.(Glu241Lys)" "" "0000880223" "00025745" "90" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Arg302His)" "" "0000880224" "00025745" "90" "1183" "0" "1183" "0" "c.1183C>A" "r.(?)" "p.(Arg395Ser)" "" "0000880225" "00025745" "90" "1183" "0" "1183" "0" "c.1183C>A" "r.(?)" "p.(Arg395Ser)" "" "0000880226" "00025745" "90" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Pro398Ser)" "" "0000880227" "00025745" "90" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441Gln)" "" "0000880228" "00025745" "90" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441Gln)" "" "0000880229" "00025745" "90" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441Gln)" "" "0000880230" "00025745" "90" "2193" "0" "2193" "0" "c.2193G>C" "r.(?)" "p.(Glu731Asp)" "" "0000880231" "00025745" "90" "2193" "0" "2193" "0" "c.2193G>C" "r.(?)" "p.(Glu731Asp)" "" "0000880232" "00025745" "90" "2794" "0" "2794" "0" "c.2794A>G" "r.(?)" "p.(Ile932Val)" "" "0000880233" "00025745" "90" "3371" "0" "3371" "0" "c.3371G>A" "r.(?)" "p.(Arg1124Gln)" "" "0000880234" "00025745" "90" "3409" "0" "3409" "0" "c.3409T>A" "r.(?)" "p.(Tyr1137Asn)" "" "0000880235" "00025745" "90" "3605" "0" "3605" "0" "c.3605T>A" "r.(?)" "p.(Val1202Asp)" "" "0000880236" "00025745" "90" "3638" "0" "3638" "0" "c.3638T>C" "r.(?)" "p.(Met1213Thr)" "" "0000880237" "00025745" "90" "3820" "0" "3820" "0" "c.3820C>T" "r.(?)" "p.(Arg1274Trp)" "" "0000880238" "00025745" "90" "3880" "0" "3880" "0" "c.3880C>T" "r.(?)" "p.(Arg1294Cys)" "" "0000880239" "00025745" "90" "4029" "0" "4029" "0" "c.4029G>A" "r.(?)" "p.(Met1343Ile)" "" "0000880240" "00025745" "90" "671" "0" "674" "0" "c.671_674dup" "r.(?)" "p.(Leu226TrpfsTer8)" "" "0000880241" "00025745" "90" "2255" "0" "2255" "0" "c.2255A>G" "r.(?)" "p.(Tyr752Cys)" "" "0000880242" "00025745" "90" "3880" "0" "3880" "0" "c.3880C>T" "r.(?)" "p.(Arg1294Cys)" "" "0000896345" "00025745" "50" "3934" "0" "3934" "0" "c.3934C>T" "r.(?)" "p.(Arg1312Trp)" "" "0000909962" "00025745" "90" "507" "0" "507" "0" "c.507A>T" "r.(?)" "p.(Arg169Ser)" "" "0000909963" "00025745" "70" "1321" "0" "1321" "0" "c.1321C>T" "r.(?)" "p.(Arg441Trp)" "" "0000909967" "00025745" "90" "1360" "0" "1360" "0" "c.1360T>C" "r.(?)" "p.(Cys454Arg)" "" "0000909968" "00025745" "90" "3518" "0" "3518" "0" "c.3518G>A" "r.(?)" "p.(Ser1173Asn)" "" "0000909969" "00025745" "90" "3970" "0" "3970" "0" "c.3970C>T" "r.(?)" "p.(Arg1324Trp)" "" "0000927414" "00025745" "30" "711" "7" "711" "7" "c.711+7G>A" "r.(=)" "p.(=)" "" "0001027527" "00025745" "50" "3122" "0" "3122" "0" "c.3122G>A" "r.(?)" "p.(Arg1041Gln)" "" "0001044480" "00025745" "50" "2444" "0" "2444" "0" "c.2444C>A" "r.(?)" "p.(Ala815Asp)" "" "0001044481" "00025745" "50" "1279" "0" "1279" "0" "c.1279G>A" "r.(?)" "p.(Val427Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003040" "0000000209" "0000007137" "0000000210" "0000009224" "0000174270" "0000401430" "0000174271" "0000401431" "0000312316" "0000693898" "0000312317" "0000693899" "0000400400" "0000833349" "0000419992" "0000880221" "0000419993" "0000880222" "0000419994" "0000880223" "0000419995" "0000880224" "0000419996" "0000880225" "0000419997" "0000880226" "0000419998" "0000880227" "0000419999" "0000880228" "0000420000" "0000880229" "0000420001" "0000880230" "0000420002" "0000880231" "0000420003" "0000880232" "0000420004" "0000880233" "0000420005" "0000880234" "0000420006" "0000880235" "0000420007" "0000880236" "0000420008" "0000880237" "0000420009" "0000880238" "0000420010" "0000880239" "0000420011" "0000880240" "0000420012" "0000880241" "0000420013" "0000880242" "0000430180" "0000909962" "0000430181" "0000909963" "0000430182" "0000909967" "0000430183" "0000909968" "0000430184" "0000909969"