### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MORC2) # 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}}" "MORC2" "MORC family CW-type zinc finger 2" "22" "q12.2" "unknown" "NG_046752.1" "NC_000022.10" "" "https://www.LOVD.nl/MORC2" "" "1" "23573" "22880" "616661" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-14 19:26:44" "00006" "2025-12-19 18:53:31" ## 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}}" "00025539" "MORC2" "transcript variant 1" "005" "NM_001303256.2" "" "NP_001290185.1" "" "" "" "-398" "4772" "3099" "31364273" "31321117" "00001" "2020-07-24 15:06:21" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05791" "CMT2Z" "Charcot-Marie-Tooth disease, type 2Z (CMT2Z)" "AD" "616688" "" "" "" "00006" "2020-07-23 15:02:57" "" "" "07047" "DIGFAN" "developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy" "AD" "619090" "" "" "" "00006" "2023-12-04 21:35:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "MORC2" "00199" "MORC2" "05113" "MORC2" "05791" "MORC2" "07047" ## Individuals ## Do not remove or alter this header ## ## Count = 60 "{{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}}" "00295653" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00306917" "" "" "" "7" "" "00006" "{PMID:Sevilla 2016:26497905}" "4-generation family, 7 affected (3F, 4M)" "F;M" "" "Spain" "" "0" "" "" "" "FamCMT237" "00306918" "" "" "" "1" "" "00006" "{PMID:Sevilla 2016:26497905}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Spain" "" "0" "" "" "" "FamCMT197" "00306919" "" "" "" "1" "" "00006" "{PMID:Ando 2017:28771897}" "" "M" "" "Japan" "" "0" "" "" "" "Pat1" "00306920" "" "" "" "1" "" "00006" "{PMID:Ando 2017:28771897}" "" "M" "" "Japan" "" "0" "" "" "" "Pat2" "00306921" "" "" "" "1" "" "00006" "{PMID:Ando 2017:28771897}" "" "F" "" "Japan" "" "0" "" "" "" "Pat3" "00306922" "" "" "" "1" "" "00006" "{PMID:Ando 2017:28771897}" "" "F" "" "Japan" "" "0" "" "" "" "Pat4" "00306923" "" "" "" "1" "" "00006" "{PMID:Ando 2017:28771897}" "" "M" "" "Japan" "" "0" "" "" "" "Pat5" "00306924" "" "" "" "2" "" "00006" "{PMID:Ando 2017:28771897}" "family" "M" "" "Japan" "" "0" "" "" "" "Pat6" "00306925" "" "" "" "1" "" "00006" "{PMID:Ando 2017:28771897}" "" "M" "" "Japan" "" "0" "" "" "" "Pat7" "00306926" "" "" "" "1" "" "00006" "{PMID:Ando 2017:28771897}" "" "M" "" "Japan" "" "0" "" "" "" "Pat8" "00306927" "" "" "" "2" "" "00006" "{PMID:Ando 2017:28771897}" "family" "M" "" "Japan" "" "0" "" "" "" "Pat9" "00306928" "" "" "" "1" "" "00006" "{PMID:Ando 2017:28771897}, {PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected parents" "M" "" "Japan" "" "0" "" "" "" "Fam3Pat10" "00306929" "" "" "" "1" "" "00006" "{PMID:Ando 2017:28771897}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "Fam2Pat11" "00306930" "" "" "" "1" "" "00006" "{PMID:Ando 2017:28771897}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "Fam3Pat12" "00306931" "" "" "" "1" "" "00006" "{PMID:Ando 2017:28771897}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "Fam4Pat13" "00306932" "" "" "" "1" "" "00006" "{PMID:Ando 2017:28771897}" "" "" "" "Japan" "" "0" "" "" "" "" "00306933" "" "" "" "1" "" "00006" "{PMID:Ando 2017:28771897}" "" "" "" "Japan" "" "0" "" "" "" "" "00306934" "" "" "" "1" "" "00006" "{PMID:Ando 2017:28771897}" "" "" "" "Japan" "" "0" "" "" "" "" "00306935" "" "" "" "1" "" "00006" "{PMID:Hyun 2016:27105897}, {PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Korea" "" "0" "" "" "" "FC171" "00306936" "" "" "" "1" "" "00006" "{PMID:Hyun 2016:27105897}, {PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Korea" "" "0" "" "" "" "FC288" "00306937" "" "" "" "1" "" "00006" "{PMID:Hyun 2016:27105897}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Korea" "" "0" "" "" "" "FC456" "00306938" "" "" "" "1" "" "00006" "{PMID:Hyun 2016:27105897}, {PMID:Sacoto 2020:32693025}" "4-generation family, 1 affected, unaffected parents" "M" "" "Korea" "" "0" "" "" "" "FC664" "00306939" "" "" "" "1" "" "00006" "{PMID:Sevilla 2016:26497905}, {PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected parents" "F" "" "Spain" "" "0" "" "" "" "FamCMT438" "00306940" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat1" "00306941" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00306942" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat3" "00306943" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat4" "00306944" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat5" "00306945" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat6" "00306946" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat7" "00306947" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat8" "00306948" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat9" "00306949" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat10" "00306950" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat11" "00306951" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat12" "00306952" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat13" "00306953" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat14" "00306954" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat15" "00306955" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat16" "00306956" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat17" "00306957" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat18" "00306958" "" "" "" "2" "" "00006" "{PMID:Sacoto 2020:32693025}" "family" "F" "" "" "" "0" "" "" "" "Pat19" "00306959" "" "" "" "1" "" "00006" "{PMID:Sacoto 2020:32693025}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat20" "00306960" "" "" "" "20" "" "00006" "{PMID:Albulym 2016:26659848}" "5-generation family, 20 affected (12F, 8M), unaffected non-carrier parents" "F;M" "" "Australia" "" "0" "" "" "" "FamCMT105" "00306961" "" "" "" "1" "" "00006" "{PMID:Albulym 2016:26659848}" "4-generation family, 1 affected, unaffected non-carrier parents" "F" "yes" "Australia" "" "0" "" "" "" "FamCMT895" "00306962" "" "" "" "1" "" "00006" "{PMID:Albulym 2016:26659848}" "4-generation family, 1 affected, unaffected parents" "M" "" "United States" "" "0" "" "" "" "FamWUNM0263" "00306963" "" "" "" "2" "" "00006" "{PMID:Albulym 2016:26659848}" "4-generation family, affected mother/son" "F;M" "" "United States" "" "0" "" "" "" "FamWUNM0058" "00306965" "" "" "" "1" "" "00006" "{PMID:Albulym 2016:26659848}" "3-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "FamWUNM0251" "00306966" "" "" "" "1" "" "00006" "{PMID:Albulym 2016:26659848}" "family" "" "" "" "" "0" "" "" "" "CMT102" "00306967" "" "" "" "1" "" "00006" "{PMID:Albulym 2016:26659848}" "family" "" "" "" "" "0" "" "" "" "CMT131" "00306968" "" "" "" "1" "" "00006" "{PMID:Albulym 2016:26659848}" "family" "" "" "" "" "0" "" "" "" "CMT739" "00306969" "" "" "" "1" "" "00006" "{PMID:Albulym 2016:26659848}" "family" "" "" "" "" "0" "" "" "" "CMT775" "00306970" "" "" "" "1" "" "00006" "{PMID:Albulym 2016:26659848}" "family" "" "" "" "" "0" "" "" "" "CMT791" "00306971" "" "" "" "1" "" "00006" "{PMID:Albulym 2016:26659848}" "family" "" "" "" "" "0" "" "" "" "Austrian-1" "00306972" "" "" "" "1" "" "00006" "{PMID:Albulym 2016:26659848}" "sporadic patient" "" "" "Austria" "" "0" "" "" "" "?" "00402928" "" "" "" "2" "" "04268" "" "" "-" "no" "France" "" "0" "" "" "" "Fam1" "00402929" "" "" "" "1" "" "04268" "" "" "F" "no" "France" "" "0" "" "" "" "Fam2" "00455678" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00471340" "" "" "" "1" "" "00006" "{PMID:Zech 2020:33098801}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "CB-DYS-130" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 60 "{{individualid}}" "{{diseaseid}}" "00295653" "00198" "00306917" "05113" "00306918" "05113" "00306919" "05113" "00306920" "05113" "00306921" "05113" "00306922" "05113" "00306923" "05113" "00306924" "05113" "00306925" "05113" "00306926" "05113" "00306927" "05113" "00306928" "05113" "00306929" "05113" "00306930" "05113" "00306931" "05113" "00306932" "05113" "00306933" "05113" "00306934" "05113" "00306935" "05113" "00306936" "05113" "00306937" "05113" "00306938" "05113" "00306939" "05113" "00306940" "05113" "00306941" "05113" "00306942" "05113" "00306943" "05113" "00306944" "05113" "00306945" "05113" "00306946" "05113" "00306947" "05113" "00306948" "05113" "00306949" "05113" "00306950" "05113" "00306951" "05113" "00306952" "05113" "00306953" "05113" "00306954" "05113" "00306955" "05113" "00306956" "05113" "00306957" "05113" "00306958" "05113" "00306959" "05113" "00306960" "05113" "00306961" "05113" "00306962" "05113" "00306963" "05113" "00306965" "05113" "00306966" "05113" "00306967" "05113" "00306968" "05113" "00306969" "05113" "00306970" "05113" "00306971" "05113" "00306972" "05113" "00402928" "05791" "00402929" "05791" "00455678" "05162" "00471340" "00108" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00198, 00199, 05113, 05162, 05791, 07047 ## Count = 56 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000223217" "00198" "00295653" "01164" "Unknown" "" "Abnormality of cardiovascular system physiology (HP:0011025); Abnormality of muscle physiology (HP:0011804); Progressive muscle weakness (HP:0003323); Abnormality of the endocrine system (HP:0000818); Diabetes mellitus (HP:0000819); Hypertension (HP:0000822)" "" "" "" "" "" "" "" "" "" "" "" "0000232740" "05113" "00306917" "00006" "Familial, autosomal dominant" "" "see paper; ..., first symptoms childhood/early adulthood, cramps lower limbs, distal lower limb weakness, sensory loss during initial examination, hand weakness appeared after distal lower limbs paresis" "" "" "" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232741" "05113" "00306918" "00006" "Isolated (sporadic)" "" "see paper; ..., delayed motor milestones" "" "" "" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232742" "05113" "00306919" "00006" "Isolated (sporadic)" "47y" "see paper; ..., drop foot; distal leg atrophy; distal leg weakness; upper extremity involvement; proximal involvement; laterality; decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment; tremor tongue tremor" "30y" "" "drop foot" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232743" "05113" "00306920" "00006" "Isolated (sporadic)" "19y" "see paper; ..., drop foot; distal leg atrophy; distal leg weakness; upper extremity involvement; proximal involvement; no laterality; decreased deep tendon reflex; intellectual disability; atopic dermatitis" "6y" "" "drop foot" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232744" "05113" "00306921" "00006" "Isolated (sporadic)" "39y" "see paper; ..., poor motor performance; distal leg atrophy; distal leg weakness; upper extremity involvement; no decreased touch; no decreased vibration; decreased deep tendon reflex; no cognitive impairment" "6y" "" "poor motor performance" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232745" "05113" "00306922" "00006" "Isolated (sporadic)" "27y" "see paper; ..., fatigue; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; no decreased touch; no decreased vibration; decreased deep tendon reflex; no cognitive impairment; tremor leukoaraiosis" "12y" "" "fatigue" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232746" "05113" "00306923" "00006" "Isolated (sporadic)" "17y" "see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; no decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment" "8y" "" "gait disturbance" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232747" "05113" "00306924" "00006" "Familial, autosomal dominant" "14y" "see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; no upper extremity involvement; no proximal involvement; no laterality; no decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment; tremor" "9y" "" "gait disturbance" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232748" "05113" "00306925" "00006" "Isolated (sporadic)" "33y" "see paper; ..., difficulty in run; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; no cognitive impairment; tremor tongue atrophy" "28y" "" "difficulty in run" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232749" "05113" "00306926" "00006" "Isolated (sporadic)" "51y" "see paper; ..., weakness; distal leg atrophy; distal leg weakness; upper extremity involvement; proximal involvement; no laterality; intellectual disability (IQ47)" "6y" "" "weakness" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232750" "05113" "00306927" "00006" "Familial, autosomal dominant" "44y" "see paper; ..., poor motor performance; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment" "6y" "" "poor motor performance" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232751" "05113" "00306928" "00006" "Isolated (sporadic)" "29y" "see paper; ..., difficulty in running; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment; atopic dermatitis" "6y" "" "difficulty in running" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232752" "05113" "00306929" "00006" "Isolated (sporadic)" "15y" "see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; no upper extremity involvement; no proximal involvement; no laterality; no decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment" "11y" "" "gait disturbance" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232753" "05113" "00306930" "00006" "Isolated (sporadic)" "36y" "see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; upper extremity involvement; proximal involvement; no laterality; no decreased touch; decreased vibration; decreased deep tendon reflex; intellectual disability (IQ65); leukoaraiosis brain atrophy spinal cord atrophy" "5y" "" "gait disturbance" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232754" "05113" "00306931" "00006" "Isolated (sporadic)" "15y" "see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; upper extremity involvement; decreased deep tendon reflex; intellectual disability (IQ76)" "1y" "" "gait disturbance" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232755" "05113" "00306935" "00006" "Isolated (sporadic)" "13y" "see paper; ..., general hypotonia, proximal muscle weakness upper limbs, proximal muscle weakness lower limbs, wheelchair dependent, sensory loss, absent deep tendon reflexes, developmental delay, scoliosis, claw hand" "00y09m" "" "general hypotonia" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232756" "05113" "00306936" "00006" "Isolated (sporadic)" "10y" "see paper; ..., general hypotonia, proximal muscle weakness upper limbs, proximal muscle weakness lower limbs, wheelchair dependent, sensory loss, absent deep tendon reflexes, developmental delay, cataract, scoliosis, dysmorphic face, claw hand" "00y06m" "" "general hypotonia" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232757" "05113" "00306937" "00006" "Isolated (sporadic)" "19y" "see paper; ..., muscle weakness hand, muscle weakness lower limbs, ankle dorsiflexion, sensory loss, absent deep tendon reflexes, hearing loss, neck weakness, scoliosis, visual evoked potential abnormal, cramps, claw hand, standing on heels" "11y" "" "distal muscle weakness" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232758" "05113" "00306938" "00006" "Isolated (sporadic)" "30y" "see paper; ..., muscle weakness hand, muscle weakness lower limbs, ankle dorsiflexion, sensory loss, absent deep tendon reflexes, hearing loss, neck weakness, cramps, claw hand, not standing on heels" "14y" "" "distal muscle weakness" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232759" "05113" "00306939" "00006" "Isolated (sporadic)" "01y07m" "OFC right), muscle atrophy, foot drop, areflexia, ataxia, uses walker or wheelchair for ambulation; sensory motor neuropathy; MRI brain generalized brain atrophy and scattered subcortical and deep white matter microangiopathic changes disproportionate to patient’s age; essential thrombocytosis, grooved tongue, mildly elevated creatine kinase (500–900 U/L)" "" "" "" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232778" "05113" "00306958" "00006" "Familial, autosomal dominant" "5y7m" "height SD -2.29, weight SD -2.35, OFC SD 0.09; motor delay; speech delay; mild intellectual disability; facial dysmorphism; no hearing loss; growth hormone deficiency; hypotonia, weakness, hyporeflexia, ataxia, action tremor; MRI brain 3y-normal; duplicated collecting system" "" "" "" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232779" "05113" "00306959" "00006" "Unknown" "29y" "motor delay" "" "" "" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232780" "05113" "00306960" "00006" "Familial, autosomal dominant" "" "see paper; ..., pyramidal signs" "" "" "" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232781" "05113" "00306961" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232782" "05113" "00306962" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232783" "05113" "00306963" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232784" "05113" "00306965" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT2Z" "Charcot-Marie-Tooth disease" "" "0000232785" "05113" "00306966" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000232786" "05113" "00306967" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000232787" "05113" "00306968" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000232788" "05113" "00306969" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000232789" "05113" "00306970" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000232790" "05113" "00306971" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000232791" "05113" "00306972" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000295676" "05791" "00402929" "04268" "Isolated (sporadic)" "46y" "late-onset SMA presentation" "40y" "" "" "" "" "" "" "" "CMT2Z" "SMA" "" "0000344211" "05162" "00455678" "03544" "Isolated (sporadic)" "" "HP:0000252, HP:0000154, HP:0004322, HP:0000336, HP:0000347, HP:0000486, HP:0000490, HP:0000365, HP:0000369, HP:0002650, HP:0001762, HP:0001763, HP:0002313, HP:0030084, HP:0040276, HP:0001249, HP:0100790" "" "" "" "" "" "" "" "" "DIGFAN" "complex neurodevelopmental disorder" "" "0000356177" "00108" "00471340" "00006" "Isolated (sporadic)" "" "combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset childhood (3-12y); segmental dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "" "dystonia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 60 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000296825" "00295653" "1" "01164" "01164" "2020-03-22 12:43:32" "" "" "SEQ-NG-S" "DNA" "" "" "0000308054" "00306917" "1" "00006" "00006" "2020-07-24 08:49:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308055" "00306918" "1" "00006" "00006" "2020-07-24 08:54:46" "" "" "SEQ" "DNA" "" "" "0000308056" "00306919" "1" "00006" "00006" "2020-07-24 09:59:44" "" "" "SEQ" "DNA" "" "" "0000308057" "00306920" "1" "00006" "00006" "2020-07-24 09:59:44" "" "" "SEQ" "DNA" "" "" "0000308058" "00306921" "1" "00006" "00006" "2020-07-24 09:59:44" "" "" "SEQ" "DNA" "" "" "0000308059" "00306922" "1" "00006" "00006" "2020-07-24 09:59:44" "" "" "SEQ" "DNA" "" "" "0000308060" "00306923" "1" "00006" "00006" "2020-07-24 09:59:44" "" "" "SEQ" "DNA" "" "" "0000308061" "00306924" "1" "00006" "00006" "2020-07-24 09:59:44" "" "" "SEQ" "DNA" "" "" "0000308062" "00306925" "1" "00006" "00006" "2020-07-24 09:59:44" "" "" "SEQ" "DNA" "" "" "0000308063" "00306926" "1" "00006" "00006" "2020-07-24 09:59:44" "" "" "SEQ" "DNA" "" "" "0000308064" "00306927" "1" "00006" "00006" "2020-07-24 09:59:44" "" "" "SEQ" "DNA" "" "" "0000308065" "00306928" "1" "00006" "00006" "2020-07-24 09:59:44" "" "" "SEQ" "DNA" "" "" "0000308066" "00306929" "1" "00006" "00006" "2020-07-24 09:59:44" "" "" "SEQ" "DNA" "" "" "0000308067" "00306930" "1" "00006" "00006" "2020-07-24 09:59:44" "" "" "SEQ" "DNA" "" "" "0000308068" "00306931" "1" "00006" "00006" "2020-07-24 09:59:44" "" "" "SEQ" "DNA" "" "" "0000308069" "00306932" "1" "00006" "00006" "2020-07-24 10:05:10" "" "" "SEQ" "DNA" "" "" "0000308070" "00306933" "1" "00006" "00006" "2020-07-24 10:05:10" "" "" "SEQ" "DNA" "" "" "0000308071" "00306934" "1" "00006" "00006" "2020-07-24 10:05:10" "" "" "SEQ" "DNA" "" "" "0000308072" "00306935" "1" "00006" "00006" "2020-07-24 11:56:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308073" "00306936" "1" "00006" "00006" "2020-07-24 11:56:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308074" "00306937" "1" "00006" "00006" "2020-07-24 11:56:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308075" "00306938" "1" "00006" "00006" "2020-07-24 11:56:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308076" "00306939" "1" "00006" "00006" "2020-07-24 12:29:03" "" "" "SEQ" "DNA" "" "" "0000308077" "00306940" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308078" "00306941" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308079" "00306942" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308080" "00306943" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308081" "00306944" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308082" "00306945" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308083" "00306946" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308084" "00306947" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308085" "00306948" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308086" "00306949" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308087" "00306950" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308088" "00306951" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308089" "00306952" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308090" "00306953" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308091" "00306954" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308092" "00306955" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308093" "00306956" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308094" "00306957" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308095" "00306958" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308096" "00306959" "1" "00006" "00006" "2020-07-24 12:53:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308097" "00306960" "1" "00006" "00006" "2020-07-24 13:45:07" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000308098" "00306961" "1" "00006" "00006" "2020-07-24 13:52:33" "" "" "SEQ" "DNA" "" "" "0000308099" "00306962" "1" "00006" "00006" "2020-07-24 13:55:01" "" "" "SEQ" "DNA" "" "" "0000308100" "00306963" "1" "00006" "00006" "2020-07-24 13:57:12" "" "" "SEQ" "DNA" "" "" "0000308102" "00306965" "1" "00006" "00006" "2020-07-24 14:17:43" "" "" "SEQ" "DNA" "" "" "0000308103" "00306966" "1" "00006" "00006" "2020-07-24 14:28:51" "" "" "SEQ" "DNA" "" "" "0000308104" "00306967" "1" "00006" "00006" "2020-07-24 14:28:51" "" "" "SEQ" "DNA" "" "" "0000308105" "00306968" "1" "00006" "00006" "2020-07-24 14:28:51" "" "" "SEQ" "DNA" "" "" "0000308106" "00306969" "1" "00006" "00006" "2020-07-24 14:28:51" "" "" "SEQ" "DNA" "" "" "0000308107" "00306970" "1" "00006" "00006" "2020-07-24 14:28:51" "" "" "SEQ" "DNA" "" "" "0000308108" "00306971" "1" "00006" "00006" "2020-07-24 14:28:51" "" "" "SEQ" "DNA" "" "" "0000308109" "00306972" "1" "00006" "00006" "2020-07-24 14:28:51" "" "" "SEQ" "DNA" "" "" "0000404169" "00402928" "1" "04268" "04268" "2022-02-14 16:21:57" "" "" "SEQ-NG" "DNA" "" "" "0000404170" "00402929" "1" "04268" "04268" "2022-02-14 16:51:46" "" "" "SEQ" "DNA" "" "" "0000457292" "00455678" "1" "03544" "03544" "2024-10-15 08:14:12" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000473010" "00471340" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 57 "{{screeningid}}" "{{geneid}}" "0000308054" "MORC2" "0000308055" "MORC2" "0000308056" "MORC2" "0000308057" "MORC2" "0000308058" "MORC2" "0000308059" "MORC2" "0000308060" "MORC2" "0000308061" "MORC2" "0000308062" "MORC2" "0000308063" "MORC2" "0000308064" "MORC2" "0000308065" "MORC2" "0000308066" "MORC2" "0000308067" "MORC2" "0000308068" "MORC2" "0000308069" "MORC2" "0000308070" "MORC2" "0000308071" "MORC2" "0000308072" "MORC2" "0000308073" "MORC2" "0000308074" "MORC2" "0000308075" "MORC2" "0000308076" "MORC2" "0000308077" "MORC2" "0000308078" "MORC2" "0000308079" "MORC2" "0000308080" "MORC2" "0000308081" "MORC2" "0000308082" "MORC2" "0000308083" "MORC2" "0000308084" "MORC2" "0000308085" "MORC2" "0000308086" "MORC2" "0000308087" "MORC2" "0000308088" "MORC2" "0000308089" "MORC2" "0000308090" "MORC2" "0000308091" "MORC2" "0000308092" "MORC2" "0000308093" "MORC2" "0000308094" "MORC2" "0000308095" "MORC2" "0000308096" "MORC2" "0000308097" "MORC2" "0000308098" "MORC2" "0000308099" "MORC2" "0000308100" "MORC2" "0000308102" "MORC2" "0000308103" "MORC2" "0000308104" "MORC2" "0000308105" "MORC2" "0000308106" "MORC2" "0000308107" "MORC2" "0000308108" "MORC2" "0000308109" "MORC2" "0000404169" "MORC2" "0000404170" "MORC2" ## 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 = 119 "{{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}}" "0000283703" "0" "70" "22" "31337490" "31337490" "subst" "0" "02329" "MORC2_000002" "g.31337490G>A" "" "" "" "MORC2(NM_014941.3):c.568C>T (p.R190W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30941503G>A" "" "likely pathogenic" "" "0000283704" "0" "70" "22" "31354679" "31354679" "subst" "0" "02329" "MORC2_000004" "g.31354679T>C" "" "" "" "MORC2(NM_001303256.3):c.70A>G (p.T24A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30958693T>C" "" "likely pathogenic" "" "0000283705" "0" "50" "22" "31354670" "31354670" "subst" "0" "02329" "MORC2_000003" "g.31354670C>T" "" "" "" "MORC2(NM_001303256.2):c.79G>A (p.E27K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30958684C>T" "" "VUS" "" "0000291925" "0" "50" "22" "31336789" "31336789" "subst" "0" "01943" "MORC2_000001" "g.31336789C>A" "" "" "" "MORC2(NM_014941.3):c.674G>T (p.R225L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30940802C>A" "" "VUS" "" "0000571769" "0" "30" "22" "31322826" "31322826" "subst" "5.28627E-5" "02330" "MORC2_000005" "g.31322826G>A" "" "" "" "MORC2(NM_014941.3):c.2877C>T (p.D959=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30926839G>A" "" "likely benign" "" "0000571770" "0" "10" "22" "31328929" "31328929" "subst" "0.00681015" "02330" "MORC2_000006" "g.31328929C>G" "" "" "" "MORC2(NM_014941.3):c.2283G>C (p.R761=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30932942C>G" "" "benign" "" "0000571771" "0" "30" "22" "31330134" "31330134" "subst" "0.00216076" "02330" "MORC2_000007" "g.31330134T>C" "" "" "" "MORC2(NM_014941.3):c.2052A>G (p.E684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30934147T>C" "" "likely benign" "" "0000571772" "0" "50" "22" "31330151" "31330151" "subst" "2.84356E-5" "02330" "MORC2_000008" "g.31330151C>T" "" "" "" "MORC2(NM_014941.1):c.2035G>A (p.(Ala679Thr)), MORC2(NM_014941.3):c.2035G>A (p.A679T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30934164C>T" "" "VUS" "" "0000571774" "0" "30" "22" "31333595" "31333595" "subst" "4.06299E-6" "02327" "MORC2_000010" "g.31333595C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30937608C>T" "" "likely benign" "" "0000571775" "0" "10" "22" "31333631" "31333631" "subst" "0.352764" "02330" "MORC2_000011" "g.31333631T>C" "" "" "" "MORC2(NM_014941.3):c.1251A>G (p.P417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30937644T>C" "" "benign" "" "0000571776" "0" "90" "22" "31334102" "31334102" "subst" "0" "02327" "MORC2_000012" "g.31334102G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30938115G>T" "" "pathogenic" "" "0000571777" "0" "10" "22" "31335967" "31335967" "subst" "0.0124493" "02330" "MORC2_000013" "g.31335967T>A" "" "" "" "MORC2(NM_014941.3):c.780A>T (p.G260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30939980T>A" "" "benign" "" "0000571778" "0" "10" "22" "31337565" "31337565" "subst" "0.014653" "02330" "MORC2_000014" "g.31337565A>G" "" "" "" "MORC2(NM_014941.3):c.513-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30941578A>G" "" "benign" "" "0000571779" "0" "10" "22" "31342376" "31342376" "subst" "0.320123" "02330" "MORC2_000015" "g.31342376G>C" "" "" "" "MORC2(NM_014941.3):c.192C>G (p.T64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30946389G>C" "" "benign" "" "0000571780" "0" "10" "22" "31345821" "31345821" "subst" "0.0113111" "02330" "MORC2_000016" "g.31345821A>C" "" "" "" "MORC2(NM_014941.3):c.48T>G (p.A16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30949835A>C" "" "benign" "" "0000571781" "0" "10" "22" "31346345" "31346345" "subst" "0.00265435" "02330" "MORC2_000017" "g.31346345A>G" "" "" "" "MORC2(NM_014941.3):c.40+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30950359A>G" "" "benign" "" "0000571782" "0" "10" "22" "31346443" "31346443" "del" "0.000744382" "02330" "MORC2_000018" "g.31346443del" "" "" "" "MORC2(NM_014941.3):c.-29-12delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30950457del" "" "benign" "" "0000571783" "0" "10" "22" "31354653" "31354653" "subst" "0.35548" "02330" "MORC2_000019" "g.31354653G>A" "" "" "" "MORC2(NM_001303256.3):c.96C>T (p.A32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30958667G>A" "" "benign" "" "0000618555" "0" "30" "22" "31323998" "31323998" "subst" "1.63413E-5" "02330" "MORC2_000020" "g.31323998G>A" "" "" "" "MORC2(NM_014941.3):c.2844+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30928011G>A" "" "likely benign" "" "0000618556" "0" "30" "22" "31333033" "31333033" "subst" "0.000700605" "02330" "MORC2_000022" "g.31333033A>G" "" "" "" "MORC2(NM_001303256.3):c.1499-9T>C, MORC2(NM_014941.3):c.1313-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30937046A>G" "" "likely benign" "" "0000624287" "0" "30" "22" "31331279" "31331279" "subst" "0.000577687" "02330" "MORC2_000021" "g.31331279G>A" "" "" "" "MORC2(NM_014941.3):c.1582C>T (p.L528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30935292G>A" "" "likely benign" "" "0000624288" "0" "10" "22" "31363813" "31363813" "subst" "0.00234018" "02330" "MORC2_000023" "g.31363813T>C" "" "" "" "MORC2(NM_001303256.3):c.63A>G (p.T21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30967827T>C" "" "benign" "" "0000653541" "0" "90" "22" "31337490" "31337490" "subst" "0" "01164" "MORC2_000002" "g.31337490G>A" "" "" "" "" "Sevilla et al. 2016. Brain 139: 62" "Germline" "" "rs864309503" "0" "" "" "g.30941503G>A" "" "pathogenic" "ACMG" "0000674896" "1" "90" "22" "31337490" "31337490" "subst" "0" "00006" "MORC2_000002" "g.31337490G>A" "" "{PMID:Sevilla 2016:26497905}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30941503G>A" "" "pathogenic (dominant)" "" "0000674897" "0" "90" "22" "31337490" "31337490" "subst" "0" "00006" "MORC2_000002" "g.31337490G>A" "" "{PMID:Sevilla 2016:26497905}" "" "" "" "De novo" "" "" "0" "" "" "g.30941503G>A" "" "pathogenic (dominant)" "" "0000674898" "0" "90" "22" "31337490" "31337490" "subst" "0" "00006" "MORC2_000002" "g.31337490G>A" "" "{PMID:Ando 2017:28771897}" "" "754C>T (R190W)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30941503G>A" "" "pathogenic (dominant)" "" "0000674899" "0" "90" "22" "31337490" "31337490" "subst" "0" "00006" "MORC2_000002" "g.31337490G>A" "" "{PMID:Ando 2017:28771897}" "" "755C>T (R190W)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30941503G>A" "" "pathogenic (dominant)" "" "0000674900" "0" "90" "22" "31337490" "31337490" "subst" "0" "00006" "MORC2_000002" "g.31337490G>A" "" "{PMID:Ando 2017:28771897}" "" "756C>T (R190W)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30941503G>A" "" "pathogenic (dominant)" "" "0000674901" "0" "90" "22" "31337490" "31337490" "subst" "0" "00006" "MORC2_000002" "g.31337490G>A" "" "{PMID:Ando 2017:28771897}" "" "757C>T (R190W)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30941503G>A" "" "pathogenic (dominant)" "" "0000674902" "0" "90" "22" "31337490" "31337490" "subst" "0" "00006" "MORC2_000002" "g.31337490G>A" "" "{PMID:Ando 2017:28771897}" "" "758C>T (R190W)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30941503G>A" "" "pathogenic (dominant)" "" "0000674903" "0" "90" "22" "31337490" "31337490" "subst" "0" "00006" "MORC2_000002" "g.31337490G>A" "" "{PMID:Ando 2017:28771897}" "" "759C>T (R190W)" "" "Germline" "" "" "0" "" "" "g.30941503G>A" "" "pathogenic (dominant)" "" "0000674904" "0" "90" "22" "31337490" "31337490" "subst" "0" "00006" "MORC2_000002" "g.31337490G>A" "" "{PMID:Ando 2017:28771897}" "" "760C>T (R190W)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30941503G>A" "" "pathogenic (dominant)" "" "0000674905" "0" "90" "22" "31337490" "31337490" "subst" "0" "00006" "MORC2_000002" "g.31337490G>A" "" "{PMID:Ando 2017:28771897}" "" "761C>T (R190W)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30941503G>A" "" "pathogenic (dominant)" "" "0000674906" "0" "90" "22" "31334067" "31334067" "subst" "0" "00006" "MORC2_000041" "g.31334067T>C" "" "{PMID:Ando 2017:28771897}" "" "" "" "Germline" "" "" "0" "" "" "g.30938080T>C" "" "pathogenic (dominant)" "" "0000674907" "0" "50" "22" "31334085" "31334085" "subst" "0" "00006" "MORC2_000029" "g.31334085T>C" "" "{PMID:Ando 2017:28771897}" "" "1181A>G (Tyr394Cys)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30938098T>C" "" "VUS" "" "0000674908" "0" "70" "22" "31333951" "31333951" "subst" "0" "00006" "MORC2_000040" "g.31333951C>T" "" "{PMID:Ando 2017:28771897}" "" "" "" "De novo" "" "" "0" "" "" "g.30937964C>T" "" "likely pathogenic (dominant)" "" "0000674909" "0" "70" "22" "31333879" "31333879" "subst" "0" "00006" "MORC2_000038" "g.31333879G>A" "" "{PMID:Ando 2017:28771897}" "" "" "" "De novo" "" "" "0" "" "" "g.30937892G>A" "" "likely pathogenic (dominant)" "" "0000674910" "0" "70" "22" "31333879" "31333879" "subst" "0" "00006" "MORC2_000038" "g.31333879G>A" "" "{PMID:Ando 2017:28771897}" "" "" "" "De novo" "" "" "0" "" "" "g.30937892G>A" "" "likely pathogenic (dominant)" "" "0000674911" "1" "30" "22" "31337950" "31337950" "subst" "0.00248946" "00006" "MORC2_000024" "g.31337950T>C" "" "{PMID:Ando 2017:28771897}" "" "" "" "Germline" "" "" "0" "" "" "g.30941963T>C" "" "likely benign" "" "0000674912" "0" "30" "22" "31337893" "31337893" "subst" "1.62575E-5" "00006" "MORC2_000025" "g.31337893G>A" "" "{PMID:Ando 2017:28771897}" "" "" "" "Germline" "" "" "0" "" "" "g.30941906G>A" "" "likely benign" "" "0000674913" "0" "30" "22" "31328563" "31328563" "subst" "2.43667E-5" "00006" "MORC2_000026" "g.31328563C>T" "" "{PMID:Ando 2017:28771897}" "" "" "" "Germline" "" "" "0" "" "" "g.30932576C>T" "" "likely benign" "" "0000674914" "0" "90" "22" "31345795" "31345795" "subst" "0" "00006" "MORC2_000027" "g.31345795G>A" "" "{PMID:Hyun 2016:27105897}" "" "260C>T (Ser87Leu)" "" "De novo" "" "" "0" "" "" "g.30949809G>A" "" "pathogenic (dominant)" "" "0000674915" "0" "90" "22" "31345795" "31345795" "subst" "0" "00006" "MORC2_000027" "g.31345795G>A" "" "{PMID:Hyun 2016:27105897}" "" "260C>T (Ser87Leu)" "" "De novo" "" "" "0" "" "" "g.30949809G>A" "" "pathogenic (dominant)" "" "0000674916" "0" "90" "22" "31337490" "31337490" "subst" "0" "00006" "MORC2_000002" "g.31337490G>A" "" "{PMID:Hyun 2016:27105897}" "" "" "" "De novo" "" "" "0" "" "" "g.30941503G>A" "" "pathogenic (dominant)" "" "0000674917" "0" "90" "22" "31342359" "31342359" "subst" "0" "00006" "MORC2_000028" "g.31342359C>A" "" "{PMID:Hyun 2016:27105897}" "" "Arg132Leu" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30946372C>A" "" "pathogenic (dominant)" "" "0000674918" "0" "90" "22" "31345795" "31345795" "subst" "0" "00006" "MORC2_000027" "g.31345795G>A" "" "{PMID:Sevilla 2016:26497905}" "" "260C>T (Ser87Leu)" "ACMG PS2 (x3), PS3, PM2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.30949809G>A" "{CV-SCV:000618293.2}" "pathogenic (dominant)" "ACMG" "0000674919" "0" "90" "22" "31354678" "31354678" "subst" "0" "00006" "MORC2_000046" "g.31354678G>A" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.71C>T (Thr24Ile)" "ACMG PS2, PS3, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.30958692G>A" "{CV-SCV:001134972.1}" "pathogenic (dominant)" "ACMG" "0000674920" "0" "90" "22" "31354670" "31354670" "subst" "0" "00006" "MORC2_000003" "g.31354670C>T" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.79G>A (Glu27Lys)" "ACMG PS2 (x4), PS3, PM2, PP4, BP" "De novo" "" "" "0" "" "" "g.30958684C>T" "{CV-SCV:001134974.1}" "pathogenic (dominant)" "ACMG" "0000674921" "0" "90" "22" "31354670" "31354670" "subst" "0" "00006" "MORC2_000003" "g.31354670C>T" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.79G>A (Glu27Lys)" "ACMG PS2 (x4), PS3, PM2, PP4, BP" "De novo" "" "" "0" "" "" "g.30958684C>T" "{CV-SCV:001134974.1}" "pathogenic (dominant)" "ACMG" "0000674922" "0" "90" "22" "31354670" "31354670" "subst" "0" "00006" "MORC2_000003" "g.31354670C>T" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.79G>A (Glu27Lys)" "ACMG PS2 (x4), PS3, PM2, PP4, BP" "De novo" "" "" "0" "" "" "g.30958684C>T" "{CV-SCV:001134974.1}" "pathogenic (dominant)" "ACMG" "0000674923" "0" "90" "22" "31354670" "31354670" "subst" "0" "00006" "MORC2_000003" "g.31354670C>T" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.79G>A (Glu27Lys)" "ACMG PS2 (x4), PS3, PM2, PP4, BP" "Germline/De novo (untested)" "" "" "0" "" "" "g.30958684C>T" "{CV-SCV:001134974.1}" "pathogenic (dominant)" "ACMG" "0000674924" "0" "90" "22" "31354670" "31354670" "subst" "0" "00006" "MORC2_000003" "g.31354670C>T" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.79G>A (Glu27Lys)" "ACMG PS2 (x4), PS3, PM2, PP4, BP" "De novo" "" "" "0" "" "" "g.30958684C>T" "{CV-SCV:001134974.1}" "pathogenic (dominant)" "ACMG" "0000674925" "0" "90" "22" "31345795" "31345795" "subst" "0" "00006" "MORC2_000027" "g.31345795G>A" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.260C>T (Ser87Leu)" "ACMG PS2 (x3), PS3, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.30949809G>A" "{CV-SCV:000618293.2}" "pathogenic (dominant)" "ACMG" "0000674926" "0" "90" "22" "31345795" "31345795" "subst" "0" "00006" "MORC2_000027" "g.31345795G>A" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.260C>T (Ser87Leu)" "ACMG PS2 (x3), PS3, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.30949809G>A" "{CV-SCV:000618293.2}" "pathogenic (dominant)" "ACMG" "0000674927" "0" "70" "22" "31345792" "31345792" "subst" "0" "00006" "MORC2_000045" "g.31345792G>A" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.263C>T (Ala88Val)" "ACMG PS2, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.30949806G>A" "{CV-SCV:000999384.1}" "likely pathogenic (dominant)" "ACMG" "0000674928" "0" "90" "22" "31342360" "31342360" "subst" "0" "00006" "MORC2_000044" "g.31342360G>A" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.394C>T (Arg132Cys)" "ACMG PS2 (x3), PS3, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.30946373G>A" "{CV-SCV:000571490.3}" "pathogenic (dominant)" "ACMG" "0000674929" "0" "90" "22" "31342360" "31342360" "subst" "0" "00006" "MORC2_000044" "g.31342360G>A" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.394C>T (Arg132Cys)" "ACMG PS2 (x3), PS3, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.30946373G>A" "{CV-SCV:000571490.3}" "pathogenic (dominant)" "ACMG" "0000674930" "0" "90" "22" "31342360" "31342360" "subst" "0" "00006" "MORC2_000044" "g.31342360G>A" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.394C>T (Arg132Cys)" "ACMG PS2 (x3), PS3, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.30946373G>A" "{CV-SCV:000571490.3}" "pathogenic (dominant)" "ACMG" "0000674931" "0" "90" "22" "31342360" "31342360" "subst" "0" "00006" "MORC2_000044" "g.31342360G>A" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.394C>T (Arg132Cys)" "ACMG PS2 (x3), PS3, PM2, PP3, PP4; father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.30946373G>A" "{CV-SCV:000571490.3}" "pathogenic (dominant)" "ACMG" "0000674932" "0" "90" "22" "31337446" "31337446" "subst" "0" "00006" "MORC2_000043" "g.31337446C>G" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.798G>C (Arg266Ser)" "ACMG PS2, PS3, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.30941459C>G" "{CV-SCV:000573276.4}" "pathogenic (dominant)" "ACMG" "0000674933" "0" "70" "22" "31334102" "31334102" "subst" "0" "00006" "MORC2_000042" "g.31334102G>C" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.1164C>G (Ser388Arg)" "ACMG PS2, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.30938115G>C" "{CV-SCV:001134979.1}" "likely pathogenic (dominant)" "ACMG" "0000674934" "0" "70" "22" "31334102" "31334102" "subst" "0" "00006" "MORC2_000042" "g.31334102G>C" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.1164C>G (Ser388Arg)" "ACMG PS2, PM2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.30938115G>C" "{CV-SCV:001134979.1}" "likely pathogenic (dominant)" "ACMG" "0000674935" "0" "90" "22" "31334085" "31334085" "subst" "0" "00006" "MORC2_000029" "g.31334085T>C" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.1181A>G (Tyr394Cys)" "ACMG PS2 (x2), PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.30938098T>C" "{CV-SCV:000589765.2}" "pathogenic (dominant)" "ACMG" "0000674936" "0" "90" "22" "31334085" "31334085" "subst" "0" "00006" "MORC2_000029" "g.31334085T>C" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.1181A>G (Tyr394Cys)" "ACMG PS2 (x2), PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.30938098T>C" "{CV-SCV:000589765.2}" "pathogenic (dominant)" "ACMG" "0000674937" "21" "70" "22" "31333934" "31333934" "subst" "0" "00006" "MORC2_000039" "g.31333934C>A" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.1237G>T (Val413Phe)" "ACMG PS3, PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.30937947C>A" "{CV-SCV:001134978.1}" "likely pathogenic (dominant)" "ACMG" "0000674938" "0" "70" "22" "31333934" "31333934" "subst" "0" "00006" "MORC2_000039" "g.31333934C>A" "" "{PMID:Sacoto 2020:32693025}" "" "NM_001303256.1:c.1237G>T (Val413Phe)" "ACMG PS3, PM2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.30937947C>A" "{CV-SCV:001134978.1}" "likely pathogenic (dominant)" "ACMG" "0000674939" "1" "90" "22" "31337490" "31337490" "subst" "0" "00006" "MORC2_000002" "g.31337490G>A" "" "{PMID:Albulym 2016:26659848}" "" "754C>T (Arg252Trp)" "" "Germline" "yes" "" "0" "" "" "g.30941503G>A" "" "pathogenic (dominant)" "" "0000674940" "0" "90" "22" "31337490" "31337490" "subst" "0" "00006" "MORC2_000002" "g.31337490G>A" "" "{PMID:Albulym 2016:26659848}" "" "754C>T (Arg252Trp)" "" "De novo" "" "" "0" "" "" "g.30941503G>A" "" "pathogenic (dominant)" "" "0000674941" "0" "90" "22" "31337490" "31337490" "subst" "0" "00006" "MORC2_000002" "g.31337490G>A" "" "{PMID:Albulym 2016:26659848}" "" "754C>T (Arg252Trp)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30941503G>A" "" "pathogenic (dominant)" "" "0000674942" "21" "90" "22" "31337537" "31337537" "subst" "0" "00006" "MORC2_000030" "g.31337537T>C" "" "{PMID:Albulym 2016:26659848}" "" "707A>G (E236G)" "" "Germline" "" "" "0" "" "" "g.30941550T>C" "" "pathogenic (dominant)" "" "0000674943" "0" "90" "22" "31337537" "31337537" "subst" "0" "00006" "MORC2_000030" "g.31337537T>C" "" "{PMID:Albulym 2016:26659848}" "" "707A>G (E236G)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30941550T>C" "" "pathogenic (dominant)" "" "0000674944" "0" "50" "22" "31336801" "31336801" "subst" "0" "00006" "MORC2_000031" "g.31336801C>T" "" "{PMID:Albulym 2016:26659848}" "" "NM_001303256.1:c.848G>A (R283H)" "" "Germline" "no" "" "0" "" "" "g.30940814C>T" "" "VUS" "" "0000674945" "0" "50" "22" "31331294" "31331294" "subst" "1.63001E-5" "00006" "MORC2_000032" "g.31331294G>A" "" "{PMID:Albulym 2016:26659848}" "" "NM_001303256.1:c.1753C>T (R585C)" "" "Germline" "no" "" "0" "" "" "g.30935307G>A" "" "VUS" "" "0000674946" "0" "50" "22" "31333672" "31333672" "subst" "0" "00006" "MORC2_000033" "g.31333672C>G" "" "{PMID:Albulym 2016:26659848}" "" "NM_001303256.1:c.1396G>C (D456H)" "" "Germline" "no" "" "0" "" "" "g.30937685C>G" "" "VUS" "" "0000674947" "0" "50" "22" "31330102" "31330102" "subst" "2.84264E-5" "00006" "MORC2_000034" "g.31330102T>C" "" "{PMID:Albulym 2016:26659848}" "" "NM_001303256.1:c.2270A>G (E757G)" "" "Germline" "no" "" "0" "" "" "g.30934115T>C" "" "VUS" "" "0000674948" "0" "50" "22" "31337501" "31337501" "subst" "0" "00006" "MORC2_000035" "g.31337501T>C" "" "{PMID:Albulym 2016:26659848}" "" "NM_001303256.1:c.743A>G (Y248C)" "" "Germline" "no" "" "0" "" "" "g.30941514T>C" "" "VUS" "" "0000674949" "0" "50" "22" "31333841" "31333841" "subst" "0" "00006" "MORC2_000036" "g.31333841C>T" "" "{PMID:Albulym 2016:26659848}" "" "NM_001303256.1:c.1330C>T (G444R)" "variant found in control chromosomes" "Germline" "" "" "0" "" "" "g.30937854C>T" "" "VUS" "" "0000674950" "0" "50" "22" "31345769" "31345769" "subst" "1.6251E-5" "00006" "MORC2_000037" "g.31345769G>C" "" "{PMID:Albulym 2016:26659848}" "" "NM_001303256.1:c.286C>G (Q96E)" "variant found in control chromosomes" "Germline" "" "" "0" "" "" "g.30949783G>C" "" "VUS" "" "0000681852" "0" "30" "22" "31363813" "31363813" "subst" "0.00234018" "02326" "MORC2_000023" "g.31363813T>C" "" "" "" "MORC2(NM_001303256.3):c.63A>G (p.T21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728107" "0" "50" "22" "31328646" "31328646" "subst" "8.12308E-6" "02330" "MORC2_000047" "g.31328646T>A" "" "" "" "MORC2(NM_014941.3):c.2447A>T (p.Q816L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728108" "0" "10" "22" "31332494" "31332494" "subst" "0.00100385" "02330" "MORC2_000048" "g.31332494G>A" "" "" "" "MORC2(NM_014941.3):c.1551+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000728109" "0" "50" "22" "31333901" "31333901" "subst" "0" "02325" "MORC2_000049" "g.31333901T>C" "" "" "" "MORC2(NM_001303256.3):c.1270A>G (p.T424A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728110" "0" "50" "22" "31334085" "31334085" "subst" "0" "02329" "MORC2_000029" "g.31334085T>C" "" "" "" "MORC2(NM_014941.3):c.995A>G (p.Y332C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728111" "0" "90" "22" "31354670" "31354670" "subst" "0" "01943" "MORC2_000003" "g.31354670C>T" "" "" "" "MORC2(NM_001303256.2):c.79G>A (p.E27K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809569" "0" "30" "22" "31329517" "31329517" "subst" "2.0352E-5" "02330" "MORC2_000050" "g.31329517G>C" "" "" "" "MORC2(NM_001303256.3):c.2326-10C>G, MORC2(NM_014941.3):c.2140-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809570" "0" "30" "22" "31333033" "31333033" "subst" "0.000700605" "02326" "MORC2_000022" "g.31333033A>G" "" "" "" "MORC2(NM_001303256.3):c.1499-9T>C, MORC2(NM_014941.3):c.1313-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000839788" "0" "70" "22" "31333841" "31333841" "subst" "0" "04268" "MORC2_000036" "g.31333841C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30937854C>T" "" "pathogenic" "" "0000839789" "0" "70" "22" "31333833" "31333833" "subst" "0" "04268" "MORC2_000051" "g.31333833G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.30937846G>T" "" "pathogenic" "" "0000866814" "0" "70" "22" "31354670" "31354670" "subst" "0" "02327" "MORC2_000003" "g.31354670C>T" "" "" "" "MORC2(NM_001303256.2):c.79G>A (p.E27K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895680" "0" "50" "22" "31324165" "31324165" "subst" "0" "02330" "MORC2_000052" "g.31324165C>A" "" "" "" "MORC2(NM_014941.3):c.2685G>T (p.G895=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895681" "0" "30" "22" "31324165" "31324165" "subst" "0" "02327" "MORC2_000052" "g.31324165C>A" "" "" "" "MORC2(NM_014941.3):c.2685G>T (p.G895=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895682" "0" "30" "22" "31331113" "31331113" "subst" "4.08097E-6" "02330" "MORC2_000053" "g.31331113G>A" "" "" "" "MORC2(NM_014941.3):c.1662C>T (p.P554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895683" "0" "50" "22" "31338205" "31338205" "subst" "1.21903E-5" "02330" "MORC2_000054" "g.31338205G>T" "" "" "" "MORC2(NM_001303256.3):c.480C>A (p.(Asp160Glu)), MORC2(NM_014941.3):c.294C>A (p.D98E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895684" "0" "90" "22" "31342360" "31342360" "subst" "0" "01804" "MORC2_000044" "g.31342360G>A" "" "" "" "MORC2(NM_014941.1):c.208C>T (p.(Arg70Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915526" "0" "50" "22" "31330823" "31330823" "subst" "0" "02330" "MORC2_000055" "g.31330823T>G" "" "" "" "MORC2(NM_014941.3):c.1952A>C (p.K651T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915527" "0" "30" "22" "31333655" "31333655" "subst" "0" "02330" "MORC2_000056" "g.31333655G>C" "" "" "" "MORC2(NM_014941.3):c.1227C>G (p.L409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915528" "0" "30" "22" "31334099" "31334099" "subst" "4.06111E-6" "02330" "MORC2_000057" "g.31334099T>G" "" "" "" "MORC2(NM_014941.3):c.981A>C (p.R327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931275" "0" "30" "22" "31333027" "31333027" "subst" "0" "02330" "MORC2_000058" "g.31333027G>A" "" "" "" "MORC2(NM_014941.3):c.1313-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931276" "0" "90" "22" "31342360" "31342360" "subst" "0" "02327" "MORC2_000044" "g.31342360G>A" "" "" "" "MORC2(NM_014941.1):c.208C>T (p.(Arg70Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931277" "0" "70" "22" "31342426" "31342426" "subst" "0" "02327" "MORC2_000059" "g.31342426G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951593" "0" "50" "22" "31333621" "31333621" "subst" "0" "02330" "MORC2_000060" "g.31333621G>C" "" "" "" "MORC2(NM_014941.3):c.1261C>G (p.L421V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006007" "0" "10" "22" "31328326" "31328326" "subst" "0.0066293" "02330" "MORC2_000062" "g.31328326G>A" "" "" "" "MORC2(NM_014941.3):c.2655+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006008" "0" "30" "22" "31330151" "31330151" "subst" "2.84356E-5" "01804" "MORC2_000008" "g.31330151C>T" "" "" "" "MORC2(NM_014941.1):c.2035G>A (p.(Ala679Thr)), MORC2(NM_014941.3):c.2035G>A (p.A679T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006009" "0" "30" "22" "31330790" "31330790" "subst" "0" "01804" "MORC2_000063" "g.31330790T>C" "" "" "" "MORC2(NM_014941.1):c.1985A>G (p.(Glu662Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006010" "0" "50" "22" "31332920" "31332920" "subst" "1.6262E-5" "01804" "MORC2_000064" "g.31332920G>A" "" "" "" "MORC2(NM_014941.1):c.1417C>T (p.(Arg473Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006011" "0" "50" "22" "31334148" "31334148" "subst" "4.06174E-6" "01804" "MORC2_000065" "g.31334148T>C" "" "" "" "MORC2(NM_014941.1):c.932A>G (p.(Asn311Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006012" "0" "50" "22" "31335959" "31335959" "subst" "4.07017E-6" "01804" "MORC2_000066" "g.31335959G>A" "" "" "" "MORC2(NM_014941.1):c.788C>T (p.(Thr263Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006013" "0" "50" "22" "31336016" "31336016" "subst" "0" "01804" "MORC2_000067" "g.31336016G>A" "" "" "" "MORC2(NM_014941.1):c.731C>T (p.(Ala244Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006014" "0" "50" "22" "31345769" "31345769" "subst" "1.6251E-5" "01804" "MORC2_000037" "g.31345769G>C" "" "" "" "MORC2(NM_001303256.3):c.286C>G (p.(Gln34Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011760" "0" "70" "22" "31345826" "31345826" "subst" "0" "03544" "MORC2_000068" "g.31345826C>G" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.30949840C>G" "" "likely pathogenic" "ACMG" "0001015936" "0" "10" "22" "31328555" "31328555" "subst" "8.93495E-5" "02330" "MORC2_000069" "g.31328555G>A" "" "" "" "MORC2(NM_014941.3):c.2538C>T (p.I846=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001021202" "0" "50" "22" "31333938" "31333946" "dup" "0" "03779" "MORC2_000070" "g.31333938_31333946dup" "" "" "" "" "" "CLASSIFICATION record" "" "rs1555938722" "0" "" "" "" "" "VUS" "" "0001043818" "0" "30" "22" "31329517" "31329517" "subst" "2.0352E-5" "01804" "MORC2_000050" "g.31329517G>C" "" "" "" "MORC2(NM_001303256.3):c.2326-10C>G, MORC2(NM_014941.3):c.2140-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043819" "0" "30" "22" "31330091" "31330091" "subst" "3.24881E-5" "01804" "MORC2_000071" "g.31330091G>A" "" "" "" "MORC2(NM_001303256.3):c.2281C>T (p.(Arg761Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043820" "0" "70" "22" "31337490" "31337490" "subst" "0" "02330" "MORC2_000002" "g.31337490G>A" "" "" "" "MORC2(NM_014941.3):c.568C>T (p.R190W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043821" "0" "30" "22" "31338205" "31338205" "subst" "1.21903E-5" "01804" "MORC2_000054" "g.31338205G>T" "" "" "" "MORC2(NM_001303256.3):c.480C>A (p.(Asp160Glu)), MORC2(NM_014941.3):c.294C>A (p.D98E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043822" "0" "30" "22" "31359323" "31359323" "subst" "0" "01804" "MORC2_000072" "g.31359323G>A" "" "" "" "MORC2(NM_014941.3):c.-228-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057127" "0" "30" "22" "31330937" "31330937" "subst" "1.21948E-5" "01804" "MORC2_000073" "g.31330937C>T" "" "" "" "MORC2(NM_001303256.3):c.2024G>A (p.(Arg675Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001061754" "0" "90" "22" "31334085" "31334085" "subst" "0" "00006" "MORC2_000029" "g.31334085T>C" "" "{PMID:Zech 2020:33098801}" "" "NM_014941.1:c.995A>G" "" "De novo" "" "" "0" "" "" "g.30938098T>C" "" "pathogenic (dominant)" "" ## 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 MORC2 ## Count = 119 "{{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}}" "0000283703" "00025539" "70" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000283704" "00025539" "70" "70" "0" "70" "0" "c.70A>G" "r.(?)" "p.(Thr24Ala)" "" "0000283705" "00025539" "50" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Glu27Lys)" "" "0000291925" "00025539" "50" "860" "0" "860" "0" "c.860G>T" "r.(?)" "p.(Arg287Leu)" "" "0000571769" "00025539" "30" "3063" "0" "3063" "0" "c.3063C>T" "r.(?)" "p.(Asp1021=)" "" "0000571770" "00025539" "10" "2469" "0" "2469" "0" "c.2469G>C" "r.(?)" "p.(Arg823=)" "" "0000571771" "00025539" "30" "2238" "0" "2238" "0" "c.2238A>G" "r.(?)" "p.(Glu746=)" "" "0000571772" "00025539" "50" "2221" "0" "2221" "0" "c.2221G>A" "r.(?)" "p.(Ala741Thr)" "" "0000571774" "00025539" "30" "1473" "0" "1473" "0" "c.1473G>A" "r.(?)" "p.(Met491Ile)" "" "0000571775" "00025539" "10" "1437" "0" "1437" "0" "c.1437A>G" "r.(?)" "p.(Pro479=)" "" "0000571776" "00025539" "90" "1164" "0" "1164" "0" "c.1164C>A" "r.(?)" "p.(Ser388Arg)" "" "0000571777" "00025539" "10" "966" "0" "966" "0" "c.966A>T" "r.(?)" "p.(Gly322=)" "" "0000571778" "00025539" "10" "699" "-20" "699" "-20" "c.699-20T>C" "r.(=)" "p.(=)" "" "0000571779" "00025539" "10" "378" "0" "378" "0" "c.378C>G" "r.(?)" "p.(Thr126=)" "" "0000571780" "00025539" "10" "234" "0" "234" "0" "c.234T>G" "r.(?)" "p.(Ala78=)" "" "0000571781" "00025539" "10" "226" "18" "226" "18" "c.226+18T>C" "r.(=)" "p.(=)" "" "0000571782" "00025539" "10" "158" "-12" "158" "-12" "c.158-12del" "r.(=)" "p.(=)" "" "0000571783" "00025539" "10" "96" "0" "96" "0" "c.96C>T" "r.(?)" "p.(Ala32=)" "" "0000618555" "00025539" "30" "3030" "8" "3030" "8" "c.3030+8C>T" "r.(=)" "p.(=)" "" "0000618556" "00025539" "30" "1499" "-9" "1499" "-9" "c.1499-9T>C" "r.(=)" "p.(=)" "" "0000624287" "00025539" "30" "1768" "0" "1768" "0" "c.1768C>T" "r.(?)" "p.(Leu590=)" "" "0000624288" "00025539" "10" "63" "0" "63" "0" "c.63A>G" "r.(?)" "p.(Thr21=)" "" "0000653541" "00025539" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000674896" "00025539" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000674897" "00025539" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000674898" "00025539" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000674899" "00025539" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000674900" "00025539" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000674901" "00025539" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000674902" "00025539" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000674903" "00025539" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000674904" "00025539" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000674905" "00025539" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000674906" "00025539" "90" "1199" "0" "1199" "0" "c.1199A>G" "r.(?)" "p.(Gln400Arg)" "" "0000674907" "00025539" "50" "1181" "0" "1181" "0" "c.1181A>G" "r.(?)" "p.(Tyr394Cys)" "" "0000674908" "00025539" "70" "1220" "0" "1220" "0" "c.1220G>A" "r.(?)" "p.(Cys407Tyr)" "" "0000674909" "00025539" "70" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Ala431Val)" "" "0000674910" "00025539" "70" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Ala431Val)" "" "0000674911" "00025539" "30" "626" "0" "626" "0" "c.626A>G" "r.(?)" "p.(Asn209Ser)" "" "0000674912" "00025539" "30" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Thr228Met)" "" "0000674913" "00025539" "30" "2716" "0" "2716" "0" "c.2716G>A" "r.(?)" "p.(Glu906Lys)" "" "0000674914" "00025539" "90" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Ser87Leu)" "" "0000674915" "00025539" "90" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Ser87Leu)" "" "0000674916" "00025539" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000674917" "00025539" "90" "395" "0" "395" "0" "c.395G>T" "r.(?)" "p.(Arg132Leu)" "" "0000674918" "00025539" "90" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Ser87Leu)" "" "0000674919" "00025539" "90" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Thr24Ile)" "" "0000674920" "00025539" "90" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Glu27Lys)" "" "0000674921" "00025539" "90" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Glu27Lys)" "" "0000674922" "00025539" "90" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Glu27Lys)" "" "0000674923" "00025539" "90" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Glu27Lys)" "" "0000674924" "00025539" "90" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Glu27Lys)" "" "0000674925" "00025539" "90" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Ser87Leu)" "" "0000674926" "00025539" "90" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Ser87Leu)" "" "0000674927" "00025539" "70" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ala88Val)" "" "0000674928" "00025539" "90" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Cys)" "" "0000674929" "00025539" "90" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Cys)" "" "0000674930" "00025539" "90" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Cys)" "" "0000674931" "00025539" "90" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Cys)" "" "0000674932" "00025539" "90" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Arg266Ser)" "" "0000674933" "00025539" "70" "1164" "0" "1164" "0" "c.1164C>G" "r.(?)" "p.(Ser388Arg)" "" "0000674934" "00025539" "70" "1164" "0" "1164" "0" "c.1164C>G" "r.(?)" "p.(Ser388Arg)" "" "0000674935" "00025539" "90" "1181" "0" "1181" "0" "c.1181A>G" "r.(?)" "p.(Tyr394Cys)" "" "0000674936" "00025539" "90" "1181" "0" "1181" "0" "c.1181A>G" "r.(?)" "p.(Tyr394Cys)" "" "0000674937" "00025539" "70" "1237" "0" "1237" "0" "c.1237G>T" "r.(?)" "p.(Val413Phe)" "" "0000674938" "00025539" "70" "1237" "0" "1237" "0" "c.1237G>T" "r.(?)" "p.(Val413Phe)" "" "0000674939" "00025539" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000674940" "00025539" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000674941" "00025539" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000674942" "00025539" "90" "707" "0" "707" "0" "c.707A>G" "r.(?)" "p.(Glu236Gly)" "" "0000674943" "00025539" "90" "707" "0" "707" "0" "c.707A>G" "r.(?)" "p.(Glu236Gly)" "" "0000674944" "00025539" "50" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283His)" "" "0000674945" "00025539" "50" "1753" "0" "1753" "0" "c.1753C>T" "r.(?)" "p.(Arg585Cys)" "" "0000674946" "00025539" "50" "1396" "0" "1396" "0" "c.1396G>C" "r.(?)" "p.(Asp466His)" "" "0000674947" "00025539" "50" "2270" "0" "2270" "0" "c.2270A>G" "r.(?)" "p.(Glu757Gly)" "" "0000674948" "00025539" "50" "743" "0" "743" "0" "c.743A>G" "r.(?)" "p.(Tyr248Cys)" "" "0000674949" "00025539" "50" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Gly444Arg)" "" "0000674950" "00025539" "50" "286" "0" "286" "0" "c.286C>G" "r.(?)" "p.(Gln96Glu)" "" "0000681852" "00025539" "30" "63" "0" "63" "0" "c.63A>G" "r.(?)" "p.(Thr21=)" "" "0000728107" "00025539" "50" "2633" "0" "2633" "0" "c.2633A>T" "r.(?)" "p.(Gln878Leu)" "" "0000728108" "00025539" "10" "1737" "4" "1737" "4" "c.1737+4C>T" "r.spl?" "p.?" "" "0000728109" "00025539" "50" "1270" "0" "1270" "0" "c.1270A>G" "r.(?)" "p.(Thr424Ala)" "" "0000728110" "00025539" "50" "1181" "0" "1181" "0" "c.1181A>G" "r.(?)" "p.(Tyr394Cys)" "" "0000728111" "00025539" "90" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Glu27Lys)" "" "0000809569" "00025539" "30" "2326" "-10" "2326" "-10" "c.2326-10C>G" "r.(=)" "p.(=)" "" "0000809570" "00025539" "30" "1499" "-9" "1499" "-9" "c.1499-9T>C" "r.(=)" "p.(=)" "" "0000839788" "00025539" "70" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Gly444Arg)" "" "0000839789" "00025539" "70" "1338" "0" "1338" "0" "c.1338C>A" "r.(?)" "p.(His446Gln)" "" "0000866814" "00025539" "70" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Glu27Lys)" "" "0000895680" "00025539" "50" "2871" "0" "2871" "0" "c.2871G>T" "r.(?)" "p.(Gly957=)" "" "0000895681" "00025539" "30" "2871" "0" "2871" "0" "c.2871G>T" "r.(?)" "p.(Gly957=)" "" "0000895682" "00025539" "30" "1848" "0" "1848" "0" "c.1848C>T" "r.(?)" "p.(Pro616=)" "" "0000895683" "00025539" "50" "480" "0" "480" "0" "c.480C>A" "r.(?)" "p.(Asp160Glu)" "" "0000895684" "00025539" "90" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Cys)" "" "0000915526" "00025539" "50" "2138" "0" "2138" "0" "c.2138A>C" "r.(?)" "p.(Lys713Thr)" "" "0000915527" "00025539" "30" "1413" "0" "1413" "0" "c.1413C>G" "r.(?)" "p.(Leu471=)" "" "0000915528" "00025539" "30" "1167" "0" "1167" "0" "c.1167A>C" "r.(?)" "p.(Arg389=)" "" "0000931275" "00025539" "30" "1499" "-3" "1499" "-3" "c.1499-3C>T" "r.spl?" "p.?" "" "0000931276" "00025539" "90" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Cys)" "" "0000931277" "00025539" "70" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110Cys)" "" "0000951593" "00025539" "50" "1447" "0" "1447" "0" "c.1447C>G" "r.(?)" "p.(Leu483Val)" "" "0001006007" "00025539" "10" "2841" "20" "2841" "20" "c.2841+20C>T" "r.(=)" "p.(=)" "" "0001006008" "00025539" "30" "2221" "0" "2221" "0" "c.2221G>A" "r.(?)" "p.(Ala741Thr)" "" "0001006009" "00025539" "30" "2171" "0" "2171" "0" "c.2171A>G" "r.(?)" "p.(Glu724Gly)" "" "0001006010" "00025539" "50" "1603" "0" "1603" "0" "c.1603C>T" "r.(?)" "p.(Arg535Trp)" "" "0001006011" "00025539" "50" "1118" "0" "1118" "0" "c.1118A>G" "r.(?)" "p.(Asn373Ser)" "" "0001006012" "00025539" "50" "974" "0" "974" "0" "c.974C>T" "r.(?)" "p.(Thr325Met)" "" "0001006013" "00025539" "50" "917" "0" "917" "0" "c.917C>T" "r.(?)" "p.(Ala306Val)" "" "0001006014" "00025539" "50" "286" "0" "286" "0" "c.286C>G" "r.(?)" "p.(Gln96Glu)" "" "0001011760" "00025539" "70" "229" "0" "229" "0" "c.229G>C" "r.(?)" "p.(Asp77His)" "5" "0001015936" "00025539" "10" "2724" "0" "2724" "0" "c.2724C>T" "r.(?)" "p.(=)" "" "0001021202" "00025539" "50" "1235" "0" "1243" "0" "c.1235_1243dup" "r.(?)" "p.(Gly412_Val414dup)" "" "0001043818" "00025539" "30" "2326" "-10" "2326" "-10" "c.2326-10C>G" "r.(=)" "p.(=)" "" "0001043819" "00025539" "30" "2281" "0" "2281" "0" "c.2281C>T" "r.(?)" "p.(Arg761Trp)" "" "0001043820" "00025539" "70" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0001043821" "00025539" "30" "480" "0" "480" "0" "c.480C>A" "r.(?)" "p.(Asp160Glu)" "" "0001043822" "00025539" "30" "68" "4485" "68" "4485" "c.68+4485C>T" "r.(=)" "p.(=)" "" "0001057127" "00025539" "30" "2024" "0" "2024" "0" "c.2024G>A" "r.(?)" "p.(Arg675Gln)" "" "0001061754" "00025539" "90" "1181" "0" "1181" "0" "c.1181A>G" "r.(?)" "p.(Tyr394Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 60 "{{screeningid}}" "{{variantid}}" "0000296825" "0000653541" "0000308054" "0000674896" "0000308055" "0000674897" "0000308056" "0000674898" "0000308057" "0000674899" "0000308058" "0000674900" "0000308059" "0000674901" "0000308060" "0000674902" "0000308061" "0000674903" "0000308062" "0000674904" "0000308063" "0000674905" "0000308064" "0000674906" "0000308065" "0000674907" "0000308066" "0000674908" "0000308067" "0000674909" "0000308068" "0000674910" "0000308069" "0000674911" "0000308070" "0000674912" "0000308071" "0000674913" "0000308072" "0000674914" "0000308073" "0000674915" "0000308074" "0000674916" "0000308075" "0000674917" "0000308076" "0000674918" "0000308077" "0000674919" "0000308078" "0000674920" "0000308079" "0000674921" "0000308080" "0000674922" "0000308081" "0000674923" "0000308082" "0000674924" "0000308083" "0000674925" "0000308084" "0000674926" "0000308085" "0000674927" "0000308086" "0000674928" "0000308087" "0000674929" "0000308088" "0000674930" "0000308089" "0000674931" "0000308090" "0000674932" "0000308091" "0000674933" "0000308092" "0000674934" "0000308093" "0000674935" "0000308094" "0000674936" "0000308095" "0000674937" "0000308096" "0000674938" "0000308097" "0000674939" "0000308098" "0000674940" "0000308099" "0000674941" "0000308100" "0000674942" "0000308102" "0000674943" "0000308103" "0000674944" "0000308104" "0000674945" "0000308105" "0000674946" "0000308106" "0000674947" "0000308107" "0000674948" "0000308108" "0000674949" "0000308109" "0000674950" "0000404169" "0000839788" "0000404170" "0000839789" "0000457292" "0001011760" "0000473010" "0001061754"