### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZMYM2) # 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}}" "ZMYM2" "zinc finger, MYM-type 2" "13" "q11-q12" "unknown" "NG_023348.2" "UD_132119030736" "" "https://www.LOVD.nl/ZMYM2" "" "1" "12989" "7750" "602221" "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/ZMYM2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-19 16:00:44" "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}}" "00025724" "ZMYM2" "transcript variant 2" "003" "NM_197968.2" "" "NP_932072.1" "" "" "" "-251" "9948" "4134" "20532810" "20665968" "00006" "2022-08-05 13:57:54" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "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" "06953" "NECRC" "neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalitie" "AD" "619522" "" "" "" "00006" "2022-08-05 13:59:32" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ZMYM2" "06953" ## Individuals ## Do not remove or alter this header ## ## Count = 35 "{{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}}" "00311131" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "F" "" "Netherlands" "" "0" "" "" "" "GM10-21" "00311132" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "M" "" "United States" "" "0" "" "" "" "GM1-21" "00311133" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "M" "" "United States" "" "0" "" "" "" "GM3-21" "00311134" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "F" "" "" "" "0" "" "" "white" "GM9-21" "00311135" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "F" "" "Italy" "" "0" "" "" "" "SSC3-21" "00311136" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "M" "" "Macedonia" "" "0" "" "" "" "A4730-21" "00311137" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "F" "" "Macedonia" "" "0" "" "" "" "A1204-21" "00311138" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "M" "" "Morocco" "" "0" "" "" "" "GM11-21" "00311139" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "M" "" "" "" "0" "" "" "white" "GM17-21" "00311140" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "M" "" "Switzerland" "" "0" "" "" "" "GM19-21" "00311141" "" "" "" "2" "" "00006" "{PMID:Connaughton 2020:32891193}" "2-generation family, 2 affected sisters" "F" "" "" "" "0" "" "" "white" "GM6-21" "00311142" "" "" "00311141" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "sister" "F" "" "" "" "0" "" "" "white" "GM6-22" "00311143" "" "" "" "3" "" "00006" "{PMID:Connaughton 2020:32891193}" "2-generation family, 3 affected (mother/daughter/son), daughter" "F" "" "" "" "0" "" "" "white" "GM18-12" "00311144" "" "" "00311143" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "brother" "M" "" "" "" "0" "" "" "white" "GM18-22" "00311145" "" "" "00311143" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "mother" "F" "" "" "" "0" "" "" "white" "GM18-21" "00311146" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "F" "" "" "" "0" "" "" "white" "GM7-21" "00311147" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "F" "" "" "" "0" "" "" "white" "GM13-21" "00311148" "" "" "" "2" "" "00006" "{PMID:Connaughton 2020:32891193}" "2-generation family, 2 affected (mother/son), son" "M" "" "" "" "0" "" "" "white" "GM12-21" "00311149" "" "" "00311148" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "mother" "F" "" "" "" "0" "" "" "white" "GM12-12" "00311150" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "M" "" "Poland" "" "0" "" "" "" "SSC1-21" "00311151" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "F" "" "Macedonia" "" "0" "" "" "" "A781-21" "00311152" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "M" "" "Italy" "" "0" "" "" "" "SSC2-21" "00311153" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "" "" "" "" "0" "" "" "" "GM16-21" "00311154" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "" "" "" "" "0" "" "" "" "GM15-21" "00311155" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "M" "" "India" "" "0" "" "" "" "A3928-21" "00311156" "" "" "" "2" "" "00006" "{PMID:Connaughton 2020:32891193}" "2 afected brothers" "M" "" "Macedonia" "" "0" "" "" "" "B1410-21" "00311157" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "F" "" "Kuwait" "" "0" "" "" "" "A663-21" "00311158" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "M" "" "Kuwait" "" "0" "" "" "" "A3135-21" "00311159" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "F" "" "" "" "0" "" "" "white" "B960-21" "00311160" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "M" "" "Netherlands" "" "0" "" "" "" "SSC4-21" "00311161" "" "" "" "1" "" "00006" "{PMID:Connaughton 2020:32891193}" "" "F" "" "Macedonia" "" "0" "" "" "" "SSC5-21" "00414761" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "195735" "00428257" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "211248" "00449751" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "" "" "00464622" "" "" "" "1" "" "01164" "" "" "F" "no" "Italy" "" "0" "" "" "" "214565" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 35 "{{individualid}}" "{{diseaseid}}" "00311131" "05342" "00311132" "05342" "00311133" "05342" "00311134" "05342" "00311135" "05342" "00311136" "05342" "00311137" "05342" "00311138" "05342" "00311139" "05342" "00311140" "05342" "00311141" "05342" "00311142" "05342" "00311143" "05342" "00311144" "05342" "00311145" "05342" "00311146" "05342" "00311147" "05342" "00311148" "05342" "00311149" "05342" "00311150" "05342" "00311151" "05342" "00311152" "05342" "00311153" "05342" "00311154" "05342" "00311155" "05342" "00311156" "05342" "00311157" "05342" "00311158" "05342" "00311159" "05342" "00311160" "05342" "00311161" "05342" "00414761" "05611" "00428257" "06953" "00449751" "00139" "00464622" "06953" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05342, 05611, 06953 ## Count = 35 "{{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}}" "0000236386" "05342" "00311131" "00006" "Unknown" "" "renal ultrasound normal; downslanting palpebral fissures; hypotonia, intellectual disability, stereotypic movements" "" "" "" "" "" "" "" "" "CAKUT" "0000236387" "05342" "00311132" "00006" "Isolated (sporadic)" "" "upper urinary tract renal agenesis, lower urinary tract hypospadias, cryptorchidism, chordee, Müllerian duct remnants; bicuspid aortic valve; small hands & feet; skin: facial dysmorphsims, convex dysplastic finger nails, hypoplastic toenails; feeding problems, oral phase dysphagia, intra-uterine growth retardation, growth delay; microcephaly, developmental delay, hypotonia, tethered cord" "" "" "" "" "" "" "" "" "CAKUT" "0000236388" "05342" "00311133" "00006" "Isolated (sporadic)" "" "upper urinary tract renal ultrasound normal, lower urinary tract enuresis, incontinence; patent ductus arteriosus; facial dysmorphsims; dental caries; developmental delay, autistic spectrum" "" "" "" "" "" "" "" "" "CAKUT" "0000236389" "05342" "00311134" "00006" "Isolated (sporadic)" "" "upper urinary tract hypoplastic pelvic kidney (R) detected by “reverse phenotyping”; facial dysmorphisms (triangular face, broad neck, broad nasal bridge), scoliosis; single palmar crease on left, tapered fingers, tapered lower extremities; developmental delay, auditory attention, startle reflex, motor stereotypies" "" "" "" "" "" "" "" "" "CAKUT" "0000236390" "05342" "00311135" "00006" "Isolated (sporadic)" "" "upper urinary tract ureteropelvic junction obstruction (L); mild intellectual disability" "" "" "" "" "" "" "" "" "CAKUT" "0000236391" "05342" "00311136" "00006" "Isolated (sporadic)" "" "upper urinary tract prenatal hydronephrosis, lower urinary tract bilateral vesicoureteral reflux grade 3, urethral stricture, hydrocele testis; facial dysmorphism (wide interpupillary distance, mild epicanthal folds, long nose with a bulbous tip, farsightedness, low set posteriorly rotated ears with a simple helix and protuberant ears), hyper-extensibility of the joints; speech delay" "" "" "" "" "" "" "" "" "CAKUT" "0000236392" "05342" "00311137" "00006" "Isolated (sporadic)" "" "upper urinary tract renal agenesis (R); hematocolpos, imperforate hymen" "" "" "" "" "" "" "" "" "CAKUT" "0000236393" "05342" "00311138" "00006" "Isolated (sporadic)" "" "renal ultrasound normal; hypertelorsism, small ears, thick lips, high palate, facial dysmorphsims; obstructive sleep apnoea; developmental delay, mild intellectual disability, seizures, autism, psychosis" "" "" "" "" "" "" "" "" "CAKUT" "0000236394" "05342" "00311139" "00006" "Familial, autosomal dominant" "" "mild hypospadias, distal chordee and dorsal hooding; aplasia cutis; acute lymphoblastic leukemia; developmental delay, autism spectrum disorder (mother has attention deficit hyperactivity disorder and learning disability)" "" "" "" "" "" "" "" "" "CAKUT" "0000236395" "05342" "00311140" "00006" "Isolated (sporadic)" "" "renal ultrasound normal; seizure disorder, MRI normal, low IQ (85)" "" "" "" "" "" "" "" "" "CAKUT" "0000236396" "05342" "00311141" "00006" "Isolated (sporadic)" "" "renal ultrasound normal; ventricular septal defect, atrial septal defect, patent ductus arteriosus; short stature −2 SD, short 5th digit with abnormal nails, bilateral epicanthi, abnormal palmar crease, upturned nasal tip and severe feeding problems; microcephaly, developmental delay" "" "" "" "" "" "" "" "" "CAKUT" "0000236397" "05342" "00311142" "00006" "Isolated (sporadic)" "" "renal ultrasound normal; bilateral epicanthus, abnormal palmar crease; speech delay" "" "" "" "" "" "" "" "" "CAKUT" "0000236398" "05342" "00311143" "00006" "Familial, autosomal dominant" "" "atrial septal defect; epicanthal folds; attention deficit hyperactivity disorder, autism, behavioral concerns" "" "" "" "" "" "" "" "" "CAKUT" "0000236399" "05342" "00311144" "00006" "Familial, autosomal dominant" "" "atrial septal defect" "" "" "" "" "" "" "" "" "CAKUT" "0000236400" "05342" "00311145" "00006" "Familial, autosomal dominant" "" "renal ultrasound normal; atrial septal defect" "" "" "" "" "" "" "" "" "CAKUT" "0000236401" "05342" "00311146" "00006" "Isolated (sporadic)" "" "renal ultrasound normal; ECHO heart normal; dysmorphic facial features, short 5th fingers & thumbs, broad big toes, 5th finger clinodactyly, mild short stature (9th percentile); microcephaly, developmental delay, hypotonia, high hyperopia" "" "" "" "" "" "" "" "" "CAKUT" "0000236402" "05342" "00311147" "00006" "Isolated (sporadic)" "" "renal ultrasound normal; ECHO heart normal; short stature (3rd percentile), dysmorphic facial features (wide eyebrows, wide interpupillary and intercanthal distance, epicanthal folds, narrow downslanting palpebral fissures, nose with a wide tip, downturned corners of the mouth, small and low set ears with hypoplastic lobule), 5th finger clinodactyly; microcephaly, developmental delay, speech delay" "" "" "" "" "" "" "" "" "CAKUT" "0000236403" "05342" "00311148" "00006" "Familial, autosomal dominant" "" "renal ultrasound bilateral malrotated kidneys and the right is low lying; dysmorphic facial features (narrow palpebral fissures, epicanthi and telecanthus, small nose and a grooved single philtrum with mild hypoplastic nasal nares), short, thick fingers, increased range of motion joints; developmental delay, speech delay, hypotonia" "" "" "" "" "" "" "" "" "CAKUT" "0000236404" "05342" "00311149" "00006" "Familial, autosomal dominant" "" "intellectually disability" "" "" "" "" "" "" "" "" "CAKUT" "0000236405" "05342" "00311150" "00006" "Isolated (sporadic)" "" "upper urinary tract renal agenesis (L); atrial septal defect" "" "" "" "" "" "" "" "" "CAKUT" "0000236406" "05342" "00311151" "00006" "Isolated (sporadic)" "" "upper urinary tract duplex kidney (bilateral), lower urinary tract ureterocele (L); facila dysmorphism; congenital hip dysplasia" "" "" "" "" "" "" "" "" "CAKUT" "0000236407" "05342" "00311152" "00006" "Isolated (sporadic)" "" "upper urinary tract ureteropelvic junction obstruction (L); heart WPW syndrome" "" "" "" "" "" "" "" "" "CAKUT" "0000236408" "05342" "00311153" "00006" "Isolated (sporadic)" "" "excessive femoral anteversion, gait disturbance; alopecia, ectodermal dysplasia; hyponatremia, hypothyroidism, ichthyosis, neutropenia, photophobia, recurrent infections, abnormal thrombosis, thrombocytopenia; global developmental delay, mild intellectual disability, rotary nystagmus, seizures" "" "" "" "" "" "" "" "" "CAKUT" "0000236409" "05342" "00311154" "00006" "Isolated (sporadic)" "" "scoliosis; macrocephaly, hypotonia, developmental delay" "" "" "" "" "" "" "" "" "CAKUT" "0000236410" "05342" "00311155" "00006" "Isolated (sporadic)" "" "upper urinary tract renrenomegaly (bilateral)" "" "" "" "" "" "" "" "" "CAKUT" "0000236411" "05342" "00311156" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "CAKUT" "0000236412" "05342" "00311157" "00006" "Isolated (sporadic)" "" "upper urinary tract horseshoe kidney, ureteropelvic junction obstruction (L)" "" "" "" "" "" "" "" "" "CAKUT" "0000236413" "05342" "00311158" "00006" "Isolated (sporadic)" "" "upper urinary tract horseshoe kidney, renal calculi" "" "" "" "" "" "" "" "" "CAKUT" "0000236414" "05342" "00311159" "00006" "Isolated (sporadic)" "" "upper urinary tract ureteropelvic junction obstruction (bilateral), renal calculi" "" "" "" "" "" "" "" "" "CAKUT" "0000236415" "05342" "00311160" "00006" "Isolated (sporadic)" "" "upper urinary tract renal agenesis (L), lower urinary tract duplex urethra; club hand, hemi-vertebrae, vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities" "" "" "" "" "" "" "" "" "CAKUT" "0000236416" "05342" "00311161" "00006" "Isolated (sporadic)" "" "upper urinary tract ureteropelvic junction obstruction (R)" "" "" "" "" "" "" "" "" "CAKUT" "0000306555" "05611" "00414761" "01164" "Isolated (sporadic)" "01y" "hypotonia, delayed gross motor development, fair hair, expressive language delay, syndactyly, abnormality of joint mobility, hyperextensible joints" "" "" "" "" "" "" "" "NECRC" "neurodevelopmental delay" "0000319162" "06953" "00428257" "01164" "Familial" "04y" "Global developmental delay, Delayed speech and language development, Short attention span" "" "" "" "" "" "" "" "" "" "0000338912" "00139" "00449751" "03544" "Isolated (sporadic)" "" "HP:0001256, HP:0100259, HP:0000739, HP:0010526, HP:0010522, HP:0002354" "" "" "" "" "" "" "" "NECRC" "behavioral abnormality" "0000350613" "06953" "00464622" "01164" "Isolated (sporadic)" "06y" "Neurodevelopmental delay, Intellectual disability, Microcephaly, Atypical behavior, Delayed speech and language development, Amblyopia, Sleep abnormality, Anxiety" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 35 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000312285" "00311131" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312286" "00311132" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312287" "00311133" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312288" "00311134" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312289" "00311135" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312290" "00311136" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312291" "00311137" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312292" "00311138" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312293" "00311139" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312294" "00311140" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312295" "00311141" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312296" "00311142" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312297" "00311143" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312298" "00311144" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312299" "00311145" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312300" "00311146" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312301" "00311147" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312302" "00311148" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312303" "00311149" "1" "00006" "00006" "2020-09-19 17:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312304" "00311150" "1" "00006" "00006" "2020-09-19 20:49:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312305" "00311151" "1" "00006" "00006" "2020-09-19 20:49:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312306" "00311152" "1" "00006" "00006" "2020-09-19 20:49:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312307" "00311153" "1" "00006" "00006" "2020-09-19 20:49:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312308" "00311154" "1" "00006" "00006" "2020-09-19 20:49:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312309" "00311155" "1" "00006" "00006" "2020-09-19 20:49:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312310" "00311156" "1" "00006" "00006" "2020-09-19 20:49:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312311" "00311157" "1" "00006" "00006" "2020-09-19 20:49:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312312" "00311158" "1" "00006" "00006" "2020-09-19 20:49:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312313" "00311159" "1" "00006" "00006" "2020-09-19 20:49:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312314" "00311160" "1" "00006" "00006" "2020-09-19 20:49:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312315" "00311161" "1" "00006" "00006" "2020-09-19 20:49:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416042" "00414761" "1" "01164" "01164" "2022-08-03 12:20:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000429668" "00428257" "1" "01164" "01164" "2022-12-27 16:56:17" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000451347" "00449751" "1" "03544" "03544" "2024-05-10 13:52:31" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000466268" "00464622" "1" "01164" "01164" "2025-04-03 13:01:27" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{geneid}}" "0000312285" "ZMYM2" "0000312286" "ZMYM2" "0000312287" "ZMYM2" "0000312288" "ZMYM2" "0000312289" "ZMYM2" "0000312290" "ZMYM2" "0000312291" "ZMYM2" "0000312292" "ZMYM2" "0000312293" "ZMYM2" "0000312294" "ZMYM2" "0000312295" "ZMYM2" "0000312296" "ZMYM2" "0000312297" "ZMYM2" "0000312298" "ZMYM2" "0000312299" "ZMYM2" "0000312300" "ZMYM2" "0000312301" "ZMYM2" "0000312302" "ZMYM2" "0000312303" "ZMYM2" "0000312304" "ZMYM2" "0000312305" "ZMYM2" "0000312306" "ZMYM2" "0000312307" "ZMYM2" "0000312308" "ZMYM2" "0000312309" "ZMYM2" "0000312310" "ZMYM2" "0000312311" "ZMYM2" "0000312312" "ZMYM2" "0000312313" "ZMYM2" "0000312314" "ZMYM2" "0000312315" "ZMYM2" "0000416042" "ZMYM2" "0000429668" "ZMYM2" "0000466268" "ZMYM2" ## 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 = 82 "{{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}}" "0000657252" "0" "70" "13" "20657133" "20657133" "subst" "4.0707E-6" "01943" "ZMYM2_000002" "g.20657133C>T" "" "" "" "ZMYM2(NM_001353162.1):c.3781C>T (p.R1261*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20082993C>T" "" "likely pathogenic" "" "0000691479" "0" "50" "13" "20632790" "20632790" "del" "0" "02330" "ZMYM2_000022" "g.20632790del" "" "" "" "ZMYM2(NM_001353162.2):c.2569delA (p.M857*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691480" "0" "50" "13" "20660008" "20660015" "del" "0" "01943" "ZMYM2_000028" "g.20660008_20660015del" "" "" "" "ZMYM2(NM_001353162.1):c.3988_3995delGAATGCTC (p.E1330*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693867" "0" "90" "13" "20567834" "20567834" "subst" "0" "00006" "ZMYM2_000005" "g.20567834C>T" "" "{PMID:Connaughton 2020:32891193}" "" "" "mosaic 0.20" "Somatic" "" "" "0" "" "" "g.19993694C>T" "" "pathogenic (dominant)" "" "0000693868" "0" "90" "13" "20567978" "20567979" "dup" "0" "00006" "ZMYM2_000006" "g.20567978_20567979dup" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "De novo" "" "" "0" "" "" "g.19993838_19993839dup" "" "pathogenic (dominant)" "" "0000693869" "0" "90" "13" "20579272" "20579272" "subst" "0" "00006" "ZMYM2_000008" "g.20579272C>T" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "De novo" "" "" "0" "" "" "g.20005132C>T" "" "pathogenic (dominant)" "" "0000693870" "0" "90" "13" "20580581" "20580581" "dup" "0" "00006" "ZMYM2_000010" "g.20580581dup" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "De novo" "" "" "0" "" "" "g.20006441dup" "" "pathogenic (dominant)" "" "0000693871" "0" "90" "13" "20600774" "20600774" "del" "0" "00006" "ZMYM2_000011" "g.20600774del" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.20026634del" "" "pathogenic (dominant)" "" "0000693872" "0" "90" "13" "20600785" "20600785" "subst" "0" "00006" "ZMYM2_000012" "g.20600785C>T" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "De novo" "" "" "0" "" "" "g.20026645C>T" "" "pathogenic (dominant)" "" "0000693873" "0" "90" "13" "20600785" "20600785" "subst" "0" "00006" "ZMYM2_000012" "g.20600785C>T" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.20026645C>T" "" "pathogenic (dominant)" "" "0000693874" "0" "90" "13" "20600790" "20600794" "del" "0" "00006" "ZMYM2_000013" "g.20600790_20600794del" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "De novo" "" "" "0" "" "" "g.20026650_20026654del" "" "pathogenic (dominant)" "" "0000693875" "21" "90" "13" "20610922" "20610922" "subst" "0" "00006" "ZMYM2_000016" "g.20610922T>A" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline" "" "" "0" "" "" "g.20036782T>A" "" "pathogenic (dominant)" "" "0000693876" "0" "90" "13" "20625618" "20625618" "subst" "0" "00006" "ZMYM2_000020" "g.20625618C>T" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "De novo" "" "" "0" "" "" "g.20051478C>T" "" "pathogenic (dominant)" "" "0000693877" "0" "90" "13" "20625714" "20625717" "del" "0" "00006" "ZMYM2_000001" "g.20625714_20625717del" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "De novo" "" "" "0" "" "" "g.20051574_20051577del" "" "pathogenic (dominant)" "" "0000693878" "0" "90" "13" "20625714" "20625717" "del" "0" "00006" "ZMYM2_000001" "g.20625714_20625717del" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "De novo" "" "" "0" "" "" "g.20051574_20051577del" "" "pathogenic (dominant)" "" "0000693879" "21" "90" "13" "20632714" "20632714" "subst" "0" "00006" "ZMYM2_000021" "g.20632714G>A" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline" "" "" "0" "" "" "g.20058574G>A" "" "pathogenic (dominant)" "" "0000693880" "21" "90" "13" "20632714" "20632714" "subst" "0" "00006" "ZMYM2_000021" "g.20632714G>A" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline" "" "" "0" "" "" "g.20058574G>A" "" "pathogenic (dominant)" "" "0000693881" "0" "90" "13" "20632714" "20632714" "subst" "0" "00006" "ZMYM2_000021" "g.20632714G>A" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.20058574G>A" "" "pathogenic (dominant)" "" "0000693882" "0" "90" "13" "20638683" "20638684" "dup" "0" "00006" "ZMYM2_000025" "g.20638683_20638684dup" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.20064543_20064544dup" "" "pathogenic (dominant)" "" "0000693883" "0" "90" "13" "20641034" "20641034" "dup" "0" "00006" "ZMYM2_000026" "g.20641034dup" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "De novo" "" "" "0" "" "" "g.20066894dup" "" "pathogenic (dominant)" "" "0000693884" "21" "90" "13" "20641104" "20641104" "subst" "0" "00006" "ZMYM2_000027" "g.20641104G>A" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline" "" "" "0" "" "" "g.20066964G>A" "" "pathogenic (dominant)" "" "0000693885" "0" "90" "13" "20641104" "20641104" "subst" "0" "00006" "ZMYM2_000027" "g.20641104G>A" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.20066964G>A" "" "pathogenic (dominant)" "" "0000693886" "0" "30" "13" "20567393" "20567395" "del" "0" "00006" "ZMYM2_000003" "g.20567393_20567395del" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "De novo" "" "" "0" "" "" "g.19993253_19993255del" "" "likely benign" "" "0000693887" "0" "30" "13" "20567589" "20567589" "subst" "0" "00006" "ZMYM2_000004" "g.20567589A>C" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.19993449A>C" "" "likely benign" "" "0000693888" "0" "30" "13" "20579239" "20579239" "subst" "0" "00006" "ZMYM2_000007" "g.20579239A>G" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "De novo" "" "" "0" "" "" "g.20005099A>G" "" "likely benign" "" "0000693889" "11" "30" "13" "20580565" "20580565" "subst" "0" "00006" "ZMYM2_000009" "g.20580565C>T" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline" "" "" "0" "" "" "g.20006425C>T" "" "likely benign" "" "0000693890" "0" "30" "13" "20600821" "20600821" "subst" "0" "00006" "ZMYM2_000014" "g.20600821A>G" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "De novo" "" "" "0" "" "" "g.20026681A>G" "" "likely benign" "" "0000693891" "0" "30" "13" "20605553" "20605553" "subst" "0" "00006" "ZMYM2_000015" "g.20605553A>G" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.20031413A>G" "" "likely benign" "" "0000693892" "11" "30" "13" "20611044" "20611044" "subst" "3.78285E-5" "00006" "ZMYM2_000017" "g.20611044T>C" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline" "" "" "0" "" "" "g.20036904T>C" "" "likely benign" "" "0000693893" "0" "30" "13" "20611044" "20611045" "delins" "0" "00006" "ZMYM2_000018" "g.20611044_20611045delinsCT" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.20036904_20036905delinsCT" "" "likely benign" "" "0000693894" "0" "30" "13" "20611044" "20611045" "delins" "0" "00006" "ZMYM2_000018" "g.20611044_20611045delinsCT" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.20036904_20036905delinsCT" "" "likely benign" "" "0000693895" "0" "30" "13" "20625604" "20625604" "subst" "4.07654E-6" "00006" "ZMYM2_000019" "g.20625604G>A" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.20051464G>A" "" "likely benign" "" "0000693896" "0" "30" "13" "20637064" "20637066" "del" "0" "00006" "ZMYM2_000023" "g.20637064_20637066del" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "De novo" "" "" "0" "" "" "g.20062924_20062926del" "" "likely benign" "" "0000693897" "0" "30" "13" "20638644" "20638644" "subst" "0" "00006" "ZMYM2_000024" "g.20638644G>A" "" "{PMID:Connaughton 2020:32891193}" "" "" "" "De novo" "" "" "0" "" "" "g.20064504G>A" "" "likely benign" "" "0000724373" "0" "70" "13" "20625714" "20625717" "del" "0" "02329" "ZMYM2_000001" "g.20625714_20625717del" "" "" "" "ZMYM2(NM_003453.6):c.2434_2437delAAAG (p.K812Dfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000806039" "0" "30" "13" "20626451" "20626451" "subst" "0.00013298" "01943" "ZMYM2_000029" "g.20626451A>G" "" "" "" "ZMYM2(NM_001353162.1):c.2493A>G (p.T831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873987" "0" "90" "13" "20633663" "20633663" "subst" "0" "01164" "ZMYM2_000030" "g.20633663C>G" "" "" "" "" "ACMG PVS1, PS2_MOD, PM2_SUP; confirmed de novo in trio-exome" "De novo" "-" "" "0" "" "" "g.20059523C>G" "" "pathogenic (dominant)" "ACMG" "0000890895" "0" "50" "13" "20580581" "20580581" "subst" "0" "02326" "ZMYM2_000031" "g.20580581A>G" "" "" "" "ZMYM2(NM_003453.5):c.1367A>G (p.Y456C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890896" "0" "70" "13" "20625589" "20625590" "del" "0" "02325" "ZMYM2_000032" "g.20625589_20625590del" "" "" "" "ZMYM2(NM_003453.6):c.2309_2310delGT (p.C770Lfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890897" "0" "70" "13" "20657119" "20657119" "del" "0" "02329" "ZMYM2_000033" "g.20657119del" "" "" "" "ZMYM2(NM_001353162.3):c.3767delA (p.N1256Tfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890898" "0" "70" "13" "20657133" "20657133" "subst" "4.0707E-6" "02327" "ZMYM2_000002" "g.20657133C>T" "" "" "" "ZMYM2(NM_001353162.1):c.3781C>T (p.R1261*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000909264" "0" "70" "13" "20567949" "20567949" "del" "0" "01164" "ZMYM2_000034" "g.20567949del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.19993809del" "" "likely pathogenic (dominant)" "ACMG" "0000914029" "0" "90" "13" "20567686" "20567686" "del" "0" "02326" "ZMYM2_000035" "g.20567686del" "" "" "" "ZMYM2(NM_003453.5):c.474delC (p.S159Vfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914030" "0" "30" "13" "20593731" "20593731" "subst" "0.00073073" "02325" "ZMYM2_000036" "g.20593731G>A" "" "" "" "ZMYM2(NM_003453.6):c.1557G>A (p.M519I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925736" "0" "70" "13" "20579380" "20579380" "subst" "0" "02325" "ZMYM2_000037" "g.20579380G>A" "" "" "" "ZMYM2(NM_003453.6):c.1299+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925737" "0" "90" "13" "20632823" "20632823" "subst" "0" "02327" "ZMYM2_000038" "g.20632823C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925738" "0" "50" "13" "20635289" "20635289" "subst" "0" "02325" "ZMYM2_000039" "g.20635289C>G" "" "" "" "ZMYM2(NM_003453.6):c.2836C>G (p.L946V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925739" "0" "50" "13" "20656238" "20656238" "subst" "0" "02325" "ZMYM2_000040" "g.20656238T>A" "" "" "" "ZMYM2(NM_003453.6):c.3536T>A (p.L1179Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930181" "0" "90" "13" "20638677" "20638677" "subst" "0" "02327" "ZMYM2_000041" "g.20638677A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950061" "0" "50" "13" "20568009" "20568009" "subst" "0" "02325" "ZMYM2_000042" "g.20568009T>C" "" "" "" "ZMYM2(NM_003453.6):c.797T>C (p.V266A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950062" "0" "70" "13" "20580643" "20580643" "subst" "0" "02329" "ZMYM2_000043" "g.20580643A>T" "" "" "" "ZMYM2(NM_001353162.3):c.1429A>T (p.K477*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950063" "0" "30" "13" "20600893" "20600893" "subst" "0.000103657" "02325" "ZMYM2_000044" "g.20600893A>G" "" "" "" "ZMYM2(NM_003453.6):c.1726A>G (p.K576E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950064" "0" "30" "13" "20637071" "20637071" "subst" "0.00124901" "02326" "ZMYM2_000045" "g.20637071A>G" "" "" "" "ZMYM2(NM_003453.5):c.2997A>G (p.P999=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967164" "0" "30" "13" "20567666" "20567666" "subst" "0.00333675" "02326" "ZMYM2_000046" "g.20567666G>C" "" "" "" "ZMYM2(NM_003453.5):c.454G>C (p.D152H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967165" "0" "30" "13" "20635374" "20635374" "subst" "9.87264E-5" "02326" "ZMYM2_000047" "g.20635374A>G" "" "" "" "ZMYM2(NM_003453.5):c.2911+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967166" "0" "50" "13" "20641513" "20641513" "del" "0" "01943" "ZMYM2_000048" "g.20641513del" "" "" "" "ZMYM2(NM_001353162.1):c.3436delT (p.C1146Afs*30), ZMYM2(NM_003453.4):c.3436delT (p.C1146Afs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980577" "0" "70" "13" "20600780" "20600780" "del" "0" "02329" "ZMYM2_000049" "g.20600780del" "" "" "" "ZMYM2(NM_001353162.3):c.1613delG (p.G538Vfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980578" "0" "30" "13" "20604697" "20604697" "subst" "0" "01804" "ZMYM2_000050" "g.20604697C>A" "" "" "" "ZMYM2(NM_197968.4):c.1852-762C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980579" "0" "50" "13" "20625679" "20625679" "subst" "4.06812E-6" "01804" "ZMYM2_000051" "g.20625679A>G" "" "" "" "ZMYM2(NM_197968.4):c.2399A>G (p.(Tyr800Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980580" "0" "30" "13" "20657467" "20657467" "subst" "0" "01804" "ZMYM2_000052" "g.20657467G>A" "" "" "" "ZMYM2(NM_197968.4):c.3820+295G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985202" "0" "70" "13" "20626437" "20626437" "subst" "0" "03544" "ZMYM2_000053" "g.20626437C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.20052297C>T" "{CV:2429606}" "pathogenic" "ACMG" "0001000455" "0" "70" "13" "20577157" "20577157" "subst" "0" "01804" "ZMYM2_000054" "g.20577157C>T" "" "" "" "ZMYM2(NM_001190965.1):c.1015C>T (p.(Gln339*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000456" "0" "50" "13" "20610946" "20610946" "subst" "0" "01804" "ZMYM2_000055" "g.20610946G>A" "" "" "" "ZMYM2(NM_001190965.1):c.2189G>A (p.(Cys730Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000457" "0" "30" "13" "20611021" "20611021" "subst" "0" "01804" "ZMYM2_000056" "g.20611021G>A" "" "" "" "ZMYM2(NM_197968.2):c.2264G>A (p.(Cys755Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000458" "0" "50" "13" "20625672" "20625672" "subst" "1.22056E-5" "01804" "ZMYM2_000057" "g.20625672C>T" "" "" "" "ZMYM2(NM_001190965.1):c.2392C>T (p.(Arg798Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000459" "0" "70" "13" "20633667" "20633667" "subst" "0" "02327" "ZMYM2_000058" "g.20633667C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000460" "0" "30" "13" "20635274" "20635274" "subst" "4.89952E-5" "01804" "ZMYM2_000059" "g.20635274G>A" "" "" "" "ZMYM2(NM_197968.2):c.2821G>A (p.(Val941Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000461" "0" "70" "13" "20656240" "20656240" "subst" "0" "01804" "ZMYM2_000060" "g.20656240C>T" "" "" "" "ZMYM2(NM_197968.2):c.3538C>T (p.(Arg1180*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000462" "0" "30" "13" "20660014" "20660014" "subst" "0" "01804" "ZMYM2_000061" "g.20660014T>C" "" "" "" "ZMYM2(NM_001190965.1):c.3994T>C (p.(Ser1332Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030187" "0" "70" "13" "20641465" "20641465" "subst" "0" "01164" "ZMYM2_000062" "g.20641465C>T" "" "" "" "" "ACMG: PVS1, PS2_SUP, PS4_SUP" "De novo" "-" "" "" "" "" "g.20067325C>T" "VCV001701908.2" "pathogenic (dominant)" "ACMG" "0001039594" "0" "30" "13" "20632711" "20632711" "subst" "1.23385E-5" "01804" "ZMYM2_000063" "g.20632711A>G" "" "" "" "ZMYM2(NM_197968.4):c.2494-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039595" "0" "50" "13" "20632790" "20632790" "subst" "4.06412E-6" "01804" "ZMYM2_000064" "g.20632790A>G" "" "" "" "ZMYM2(NM_197968.4):c.2569A>G (p.(Met857Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039596" "0" "30" "13" "20656152" "20656152" "subst" "0.000151435" "01804" "ZMYM2_000065" "g.20656152A>T" "" "" "" "ZMYM2(NM_197968.4):c.3454-4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046413" "0" "50" "13" "20567744" "20567744" "subst" "0" "02325" "ZMYM2_000066" "g.20567744C>T" "" "" "" "ZMYM2(NM_003453.6):c.532C>T (p.P178S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054578" "0" "90" "13" "20600785" "20600785" "subst" "0" "01804" "ZMYM2_000012" "g.20600785C>T" "" "" "" "ZMYM2(NM_197968.4):c.1618C>T (p.(Arg540*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001054579" "0" "30" "13" "20608553" "20608553" "subst" "5.10702E-5" "01804" "ZMYM2_000067" "g.20608553C>T" "" "" "" "ZMYM2(NM_197968.4):c.2119+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001065894" "0" "90" "13" "20601372" "20601372" "subst" "0" "02325" "ZMYM2_000068" "g.20601372C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001065895" "0" "30" "13" "20611051" "20611051" "subst" "3.43654E-5" "01804" "ZMYM2_000069" "g.20611051C>T" "" "" "" "ZMYM2(NM_197968.4):c.2292+2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001065896" "0" "50" "13" "20632790" "20632790" "subst" "4.06412E-6" "02325" "ZMYM2_000064" "g.20632790A>G" "" "" "" "ZMYM2(NM_197968.4):c.2569A>G (p.(Met857Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065897" "0" "70" "13" "20635210" "20635210" "del" "0" "01804" "ZMYM2_000070" "g.20635210del" "" "" "" "ZMYM2(NM_197968.4):c.2757del (p.(Leu920Cysfs*18))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001065898" "0" "70" "13" "20641413" "20641414" "del" "0" "02325" "ZMYM2_000071" "g.20641413_20641414del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001065899" "0" "30" "13" "20657125" "20657125" "subst" "4.87956E-5" "02325" "ZMYM2_000072" "g.20657125C>T" "" "" "" "" "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 ZMYM2 ## Count = 82 "{{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}}" "0000657252" "00025724" "70" "3781" "0" "3781" "0" "c.3781C>T" "r.(?)" "p.(Arg1261Ter)" "" "0000691479" "00025724" "50" "2569" "0" "2569" "0" "c.2569del" "r.(?)" "p.(Met857Ter)" "" "0000691480" "00025724" "50" "3988" "0" "3995" "0" "c.3988_3995del" "r.(?)" "p.(Glu1330Ter)" "" "0000693867" "00025724" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "3" "0000693868" "00025724" "90" "766" "0" "767" "0" "c.766_767dup" "r.(?)" "p.(Gly257*)" "3" "0000693869" "00025724" "90" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Gln398*)" "5" "0000693870" "00025724" "90" "1367" "0" "1367" "0" "c.1367dup" "r.(?)" "p.(Tyr456*)" "6" "0000693871" "00025724" "90" "1607" "0" "1607" "0" "c.1607del" "r.(?)" "p.(Cys536Leufs*13)" "8" "0000693872" "00025724" "90" "1618" "0" "1618" "0" "c.1618C>T" "r.(?)" "p.(Arg540*)" "8" "0000693873" "00025724" "90" "1618" "0" "1618" "0" "c.1618C>T" "r.(?)" "p.(Arg540*)" "8" "0000693874" "00025724" "90" "1623" "0" "1627" "0" "c.1623_1627del" "r.(?)" "p.(Cys543Valfs*3)" "8" "0000693875" "00025724" "90" "2165" "0" "2165" "0" "c.2165T>A" "r.(?)" "p.(Leu722*)" "12" "0000693876" "00025724" "90" "2338" "0" "2338" "0" "c.2338C>T" "r.(?)" "p.(Arg780*)" "13" "0000693877" "00025724" "90" "2434" "0" "2437" "0" "c.2434_2437del" "r.(?)" "p.(Lys812Aspfs*18)" "13" "0000693878" "00025724" "90" "2434" "0" "2437" "0" "c.2434_2437del" "r.(?)" "p.(Lys812Aspfs*18)" "13" "0000693879" "00025724" "90" "2494" "-1" "2494" "-1" "c.2494-1G>A" "r.spl" "p.?" "14i" "0000693880" "00025724" "90" "2494" "-1" "2494" "-1" "c.2494-1G>A" "r.spl" "p.?" "14i" "0000693881" "00025724" "90" "2494" "-1" "2494" "-1" "c.2494-1G>A" "r.spl" "p.?" "14i" "0000693882" "00025724" "90" "3130" "0" "3131" "0" "c.3130_3131dup" "r.(?)" "p.(Gly1045Argfs*33)" "19" "0000693883" "00025724" "90" "3176" "0" "3176" "0" "c.3176dup" "r.(?)" "p.(Asp1059Glufs*2)" "20" "0000693884" "00025724" "90" "3246" "0" "3246" "0" "c.3246G>A" "r.(?)" "p.(Trp1082*)" "20" "0000693885" "00025724" "90" "3246" "0" "3246" "0" "c.3246G>A" "r.(?)" "p.(Trp1082*)" "20" "0000693886" "00025724" "30" "181" "0" "183" "0" "c.181_183del" "r.(?)" "p.(Val61del)" "" "0000693887" "00025724" "30" "377" "0" "377" "0" "c.377A>C" "r.(?)" "p.(Glu126Ala)" "" "0000693888" "00025724" "30" "1159" "0" "1159" "0" "c.1159A>G" "r.(?)" "p.(Ile387Val)" "" "0000693889" "00025724" "30" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(His451Tyr)" "" "0000693890" "00025724" "30" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Ile552Val)" "" "0000693891" "00025724" "30" "1946" "0" "1946" "0" "c.1946A>G" "r.(?)" "p.(Lys649Arg)" "" "0000693892" "00025724" "30" "2287" "0" "2287" "0" "c.2287T>C" "r.(?)" "p.(Tyr763His)" "" "0000693893" "00025724" "30" "2287" "0" "2288" "0" "c.2287_2288delinsCT" "r.(?)" "p.(Tyr763Leu)" "" "0000693894" "00025724" "30" "2287" "0" "2288" "0" "c.2287_2288delinsCT" "r.(?)" "p.(Tyr763Leu)" "" "0000693895" "00025724" "30" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Gly775Glu)" "" "0000693896" "00025724" "30" "2990" "0" "2992" "0" "c.2990_2992del" "r.(?)" "p.(Asp997del)" "" "0000693897" "00025724" "30" "3091" "0" "3091" "0" "c.3091G>A" "r.(?)" "p.(Glu1031Lys)" "" "0000724373" "00025724" "70" "2434" "0" "2437" "0" "c.2434_2437del" "r.(?)" "p.(Lys812AspfsTer18)" "" "0000806039" "00025724" "30" "2493" "0" "2493" "0" "c.2493A>G" "r.(?)" "p.(Thr831=)" "" "0000873987" "00025724" "90" "2700" "0" "2700" "0" "c.2700C>G" "r.(?)" "p.(Tyr900*)" "" "0000890895" "00025724" "50" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Tyr456Cys)" "" "0000890896" "00025724" "70" "2309" "0" "2310" "0" "c.2309_2310del" "r.(?)" "p.(Cys770Leufs*2)" "" "0000890897" "00025724" "70" "3767" "0" "3767" "0" "c.3767del" "r.(?)" "p.(Asn1256Thrfs*49)" "" "0000890898" "00025724" "70" "3781" "0" "3781" "0" "c.3781C>T" "r.(?)" "p.(Arg1261Ter)" "" "0000909264" "00025724" "70" "737" "0" "737" "0" "c.737del" "r.(?)" "p.(Pro246Hisfs*3)" "" "0000914029" "00025724" "90" "474" "0" "474" "0" "c.474del" "r.(?)" "p.(Ser159Valfs*7)" "" "0000914030" "00025724" "30" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Met519Ile)" "" "0000925736" "00025724" "70" "1299" "1" "1299" "1" "c.1299+1G>A" "r.spl?" "p.?" "" "0000925737" "00025724" "90" "2602" "0" "2602" "0" "c.2602C>T" "r.(?)" "p.(Gln868*)" "" "0000925738" "00025724" "50" "2836" "0" "2836" "0" "c.2836C>G" "r.(?)" "p.(Leu946Val)" "" "0000925739" "00025724" "50" "3536" "0" "3536" "0" "c.3536T>A" "r.(?)" "p.(Leu1179Gln)" "" "0000930181" "00025724" "90" "3124" "0" "3124" "0" "c.3124A>T" "r.(?)" "p.(Lys1042*)" "" "0000950061" "00025724" "50" "797" "0" "797" "0" "c.797T>C" "r.(?)" "p.(Val266Ala)" "" "0000950062" "00025724" "70" "1429" "0" "1429" "0" "c.1429A>T" "r.(?)" "p.(Lys477*)" "" "0000950063" "00025724" "30" "1726" "0" "1726" "0" "c.1726A>G" "r.(?)" "p.(Lys576Glu)" "" "0000950064" "00025724" "30" "2997" "0" "2997" "0" "c.2997A>G" "r.(?)" "p.(=)" "" "0000967164" "00025724" "30" "454" "0" "454" "0" "c.454G>C" "r.(?)" "p.(Asp152His)" "" "0000967165" "00025724" "30" "2911" "10" "2911" "10" "c.2911+10A>G" "r.(=)" "p.(=)" "" "0000967166" "00025724" "50" "3436" "0" "3436" "0" "c.3436del" "r.(?)" "p.(Cys1146Alafs*30)" "" "0000980577" "00025724" "70" "1613" "0" "1613" "0" "c.1613del" "r.(?)" "p.(Gly538Valfs*11)" "" "0000980578" "00025724" "30" "1852" "-762" "1852" "-762" "c.1852-762C>A" "r.(=)" "p.(=)" "" "0000980579" "00025724" "50" "2399" "0" "2399" "0" "c.2399A>G" "r.(?)" "p.(Tyr800Cys)" "" "0000980580" "00025724" "30" "3820" "295" "3820" "295" "c.3820+295G>A" "r.(=)" "p.(=)" "" "0000985202" "00025724" "70" "2479" "0" "2479" "0" "c.2479C>T" "r.(?)" "p.(Arg827*)" "14" "0001000455" "00025724" "70" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Gln339*)" "" "0001000456" "00025724" "50" "2189" "0" "2189" "0" "c.2189G>A" "r.(?)" "p.(Cys730Tyr)" "" "0001000457" "00025724" "30" "2264" "0" "2264" "0" "c.2264G>A" "r.(?)" "p.(Cys755Tyr)" "" "0001000458" "00025724" "50" "2392" "0" "2392" "0" "c.2392C>T" "r.(?)" "p.(Arg798Cys)" "" "0001000459" "00025724" "70" "2704" "0" "2704" "0" "c.2704C>T" "r.(?)" "p.(Gln902*)" "" "0001000460" "00025724" "30" "2821" "0" "2821" "0" "c.2821G>A" "r.(?)" "p.(Val941Ile)" "" "0001000461" "00025724" "70" "3538" "0" "3538" "0" "c.3538C>T" "r.(?)" "p.(Arg1180*)" "" "0001000462" "00025724" "30" "3994" "0" "3994" "0" "c.3994T>C" "r.(?)" "p.(Ser1332Pro)" "" "0001030187" "00025724" "70" "3388" "0" "3388" "0" "c.3388C>T" "r.(?)" "p.(Arg1130*)" "21" "0001039594" "00025724" "30" "2494" "-4" "2494" "-4" "c.2494-4A>G" "r.spl?" "p.?" "" "0001039595" "00025724" "50" "2569" "0" "2569" "0" "c.2569A>G" "r.(?)" "p.(Met857Val)" "" "0001039596" "00025724" "30" "3454" "-4" "3454" "-4" "c.3454-4A>T" "r.spl?" "p.?" "" "0001046413" "00025724" "50" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Pro178Ser)" "" "0001054578" "00025724" "90" "1618" "0" "1618" "0" "c.1618C>T" "r.(?)" "p.(Arg540*)" "" "0001054579" "00025724" "30" "2119" "9" "2119" "9" "c.2119+9C>T" "r.(=)" "p.(=)" "" "0001065894" "00025724" "90" "1765" "0" "1765" "0" "c.1765C>T" "r.(?)" "p.(Arg589*)" "" "0001065895" "00025724" "30" "2292" "2" "2292" "2" "c.2292+2C>T" "r.spl?" "p.?" "" "0001065896" "00025724" "50" "2569" "0" "2569" "0" "c.2569A>G" "r.(?)" "p.(Met857Val)" "" "0001065897" "00025724" "70" "2757" "0" "2757" "0" "c.2757del" "r.(?)" "p.(Leu920Cysfs*18)" "" "0001065898" "00025724" "70" "3336" "0" "3337" "0" "c.3336_3337del" "r.(?)" "p.(Thr1114Hisfs*3)" "" "0001065899" "00025724" "30" "3773" "0" "3773" "0" "c.3773C>T" "r.(?)" "p.(Ala1258Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{variantid}}" "0000312285" "0000693867" "0000312286" "0000693868" "0000312287" "0000693869" "0000312288" "0000693870" "0000312289" "0000693871" "0000312290" "0000693872" "0000312291" "0000693873" "0000312292" "0000693874" "0000312293" "0000693875" "0000312294" "0000693876" "0000312295" "0000693877" "0000312296" "0000693878" "0000312297" "0000693879" "0000312298" "0000693880" "0000312299" "0000693881" "0000312300" "0000693882" "0000312301" "0000693883" "0000312302" "0000693884" "0000312303" "0000693885" "0000312304" "0000693886" "0000312305" "0000693887" "0000312306" "0000693888" "0000312307" "0000693889" "0000312308" "0000693890" "0000312309" "0000693891" "0000312310" "0000693892" "0000312311" "0000693893" "0000312312" "0000693894" "0000312313" "0000693895" "0000312314" "0000693896" "0000312315" "0000693897" "0000416042" "0000873987" "0000429668" "0000909264" "0000451347" "0000985202" "0000466268" "0001030187"