### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BICD2) # 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}}" "BICD2" "bicaudal D homolog 2 (Drosophila)" "9" "q22.32" "unknown" "NC_000009.11" "UD_132464844073" "" "https://www.LOVD.nl/BICD2" "" "1" "17208" "23299" "609797" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/BICD2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-28 21:49:19" "00000" "2025-07-23 10:35:03" ## 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}}" "00025784" "BICD2" "transcript variant 1" "002" "NM_001003800.1" "" "NP_001003800.1" "" "" "" "-57" "6359" "2568" "95527083" "95473645" "00006" "2022-12-22 17:09:57" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "00572" "LMPS" "multiple pterygium syndrome, lethal type (LMPS )" "AR" "253290" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03888" "SMALED2A" "atrophy, muscular, spinal, lower extremity predominant, type 2A" "AD" "615290" "" "autosomal dominant inheritance" "" "00006" "2014-09-25 23:29:40" "00006" "2022-12-22 17:13:23" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "06825" "SMALED2B" "spinal muscular atrophy, lower extremity-predominant, type 2B" "AD" "618291" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2022-12-22 17:13:53" "06988" "SMALED" "atrophy, muscular, spinal, lower extremity predominant" "" "" "" "" "" "00006" "2022-12-22 17:16:49" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "BICD2" "03888" "BICD2" "06825" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00101385" "" "" "" "1" "" "01949" "" "" "M" "no" "Germany" "" "0" "" "" "" "" "00101386" "" "" "" "1" "" "01949" "" "" "F" "no" "Norway" "00y04m" "0" "" "" "" "" "00101387" "" "" "" "1" "" "01949" "" "" "M" "no" "Germany" "00y01m?" "0" "" "" "" "" "00101388" "" "" "" "1" "" "01949" "" "" "F" "no" "Germany" "" "0" "" "" "" "" "00218992" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat2" "00307180" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D13-090" "00307186" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D14-1209" "00307196" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D16-0032" "00307197" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D16-0307" "00315487" "" "" "" "1" "" "00006" "{PMID:Ravenscroft 2016:27751653}, {PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Wales;New Zealand" "" "0" "" "" "European" "Fam2PatII1" "00315488" "" "" "" "1" "" "00006" "{PMID:Ravenscroft 2016:27751653}, {PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Germany" "" "0" "" "" "" "Fam1ID22439" "00327457" "" "" "" "2" "" "03982" "2-generation family, mother and newborn" "" "F" "no" "Portugal" "" "0" "" "" "" "mother" "00327589" "" "" "00327457" "1" "" "03982" "" "" "M" "no" "Portugal" "00y01m" "0" "" "" "" "" "00428160" "" "" "" "1" "" "00006" "{PMID:Oliwa 2022:36057830}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United Kingdom (Great Britain)" "00y11m" "0" "" "" "" "patient" "00428235" "" "" "" "1" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "family, 1 affected" "F" "" "Germany" "" "0" "" "" "" "Fam15PatII1" "00442635" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat7" "00442636" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat8" "00442781" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat153" "00443417" "" "" "" "8" "" "00006" "{PMID:Saadi 2023:37510308}" "5-generation family, 8 affected (3F, 5M), unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamCPatV1" "00443418" "" "" "00443417" "1" "" "00006" "{PMID:Saadi 2023:37510308}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "FamCPatV2" "00443419" "" "" "00443417" "1" "" "00006" "{PMID:Saadi 2023:37510308}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamCPatV3" "00443420" "" "" "00443417" "1" "" "00006" "{PMID:Saadi 2023:37510308}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamCPatV4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00101385" "00198" "00101386" "00198" "00101387" "00198" "00101388" "00198" "00218992" "05123" "00307180" "00385" "00307186" "00198" "00307196" "00572" "00307197" "00385" "00315487" "00026" "00315488" "00026" "00327457" "03888" "00327589" "03888" "00428160" "06988" "00428235" "00198" "00442635" "05618" "00442636" "05618" "00442781" "05618" "00443417" "00198" "00443418" "00198" "00443419" "00198" "00443420" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00026, 00198, 00385, 00572, 03888, 05123, 05618, 06825, 06988 ## Count = 22 "{{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}}" "0000081285" "00198" "00101385" "01949" "Isolated (sporadic)" "00y" "Arthrogryposis multiplex congenita, clenched hands, micrognathia, respiratory insufficiency and permanent assisted ventilation. Strongly diminished spontaneous movement of the upper limbs. Spontaneous movement absent from lower limbs. Diminished head control, pectus excavatum. EMG with neurogenic pathology and signs of denervation." "" "" "congenital" "" "" "" "" "" "" "" "" "0000081286" "00198" "00101386" "01949" "Isolated (sporadic)" "00y" "Congenital arthrogryposis multiplex, hypotonia, repiratory failure with lethal outcome. Muscle biopsy with severe myopathic features with atrophy, hypotrophic and necrotic fibers. Advanced myofibrillar breakdown ín EM analysis." "00y" "" "congenital" "" "" "" "" "" "" "" "" "0000081287" "00198" "00101387" "01949" "Isolated (sporadic)" "00y" "Prenatal contractures, enlarged head, macroglossia. Polyhydramnios, reduced fetal movements. After birth, reduced spontaneous movement, arthrogryposis multiplex, respiratory insufficiency (assisted ventilation). No response to pain stimuli, areflexia. EMG suggested generalized neurogenic muscular atrophy. Death by respiratory failure after 15 days of life." "00y" "congenital" "congenital" "" "" "" "" "" "" "" "" "0000081288" "00198" "00101388" "01949" "Familial, autosomal dominant" "70y?" "slight symmetrical distal muscle weakness for plantar flexion (MRC 4+/5). On MRI mild alterations with symmetrical fatty degeneration of the rectus femoris and satorius thigh muscles. All symptoms are subclinical." "" "" "" "" "" "" "" "" "" "" "" "0000167549" "05123" "00218992" "00006" "Familial, autosomal dominant" "" "SMA" "" "" "" "" "" "" "" "" "SMALED-2" "spinal muscular atrophy" "" "0000232985" "00385" "00307180" "00534" "Isolated (sporadic)" "" "hydrops fetalis; arthrogryposis multiplex congenita; pterygium; rocker bottom foot; hand clenching; talipes" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232991" "00198" "00307186" "00534" "Isolated (sporadic)" "" "arthrogryposis multiplex congenita; muscle weakness" "" "" "" "" "" "" "" "" "" "arthrogryposis multiplex congenita, polymicrogyria" "" "0000233001" "00572" "00307196" "00534" "Isolated (sporadic)" "" "bilateral congenital talipes; congenital hip dislocation; knee flexion contracture; cryptorchidism; decreased muscle mass" "" "" "" "" "" "" "" "" "" "lethal multiple pterygium syndrome" "" "0000233002" "00385" "00307197" "00534" "Isolated (sporadic)" "" "arthrogryposis multiplex congenita; bulbar signs; restrictive ventilatory defect; kyphoscoliosis" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000239238" "00026" "00315487" "00006" "Isolated (sporadic)" "" "see paper; arthrogryposis multiplex congenita; neonatal hypotonia; respiratory distress; bilateral perisylvian polymicrogyria; hand clenching; talipes; micrognathia, ..." "" "" "" "" "" "" "" "" "" "arthrogryposis multiplex congenita" "" "0000239239" "00026" "00315488" "00006" "Isolated (sporadic)" "" "see paper; reduced fetal movements; arthrogryposis multiplex congenita; bilateral perisylvian polymicrogyria; cerebellar hypoplasia; hypoplasia corpus callosum; femur fracture; central apnea; talipes; ulnar deviation of finger; single transverse palmian crease, ..." "" "" "" "" "" "" "" "" "" "arthrogryposis multiplex congenita" "" "0000245747" "03888" "00327457" "03982" "Isolated (sporadic)" "21y" "HP:0002650 scoliosis; HP:0001760 abnormal foot morphology; HP:0002804 arthrogryposis multiplex congenita; HP:0003202 skeletal muscle atrophy" "00y00m" "21y" "" "" "" "" "" "" "SMALED2B" "Arthrogryposis multiplex congenita" "" "0000245841" "03888" "00327589" "03982" "Familial, autosomal dominant" "00y01m" "HP:0002747 Respiratory insufficiency due to muscle weakness; HP:0002878 Respiratory failure; HP:0011968 Feeding difficulties;HP:0003202 Skeletal muscle atrophy; HP:0001374 Congenital hip dislocation; HP:0001760 Abnormal foot morphology; HP:0001762 Talipes equinovarus; HP:0002804 Arthrogryposis multiplex congenita;HP:0002119 Ventriculomegaly; HP:0001558 Decreased fetal movement" "00y00m" "00y01m" "" "" "" "" "" "" "SMALED2B" "arthrogriposis" "" "0000319078" "06988" "00428160" "00006" "Isolated (sporadic)" "00y11m" "see paper; ..., 11m-died; antenatal arthrogryposis, postnatal hypotonia, generalized and respiratory weakness, joint deformities particularly affecting lower limbs, poor swallow; 5m-cataracts, ERG abnormal, visual evoked potentials, global developmental impairments" "" "" "" "" "" "" "" "" "SMALED2" "spinal muscular atrophy lower extremity predominant" "" "0000319147" "00198" "00428235" "00006" "Familial, autosomal dominant" "8y" "reduced fetal movements; contractures hips, knees, ankles, talipes equinovarus (left), sickle foot (right); prominent forehead, four-finger furrow, crossed 2nd and 3rd toe; atonic seizures, cognitive impairment, psychomotor developmental delay, global muscular hypotonia, atrophy of leg muscles, reduced muscle reflexes of the lower extremity, positive babinsky sign (bilateral); bilateral hip dislocation, short stature, two café au lait spots" "" "" "" "" "" "" "" "" "SMALED2" "fetal akinesia" "" "0000331982" "05618" "00442635" "00006" "Isolated (sporadic)" "" "Congenital myopathy, increased tone in legs and Babinski reflex, cryptorchidism, congenital contractures, lordosis, hip dysplasia, proximale muscle weakness (limb-girdle), abnormal gait, positive Trendelenburg test, wheelchair-bound" "" "" "" "" "" "" "" "" "" "Congenital myopathy" "" "0000331983" "05618" "00442636" "00006" "Unknown" "12y" "Arthrogryposis multiplex congenital with oligohydramnios, postnatal hip luxation, contractures of knees, mild scoliosis, genu valgus, limb-gridle and axial weakness; muscle biopsy: type 1 fiber size predominance and presence of internal nuclei; CK = 95 U/l" "1d" "" "" "" "" "" "" "" "" "Congenital myopathy, muscle hypotrophy of legs" "" "0000332128" "05618" "00442781" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Brody syndrome" "" "0000332758" "00198" "00443417" "00006" "Familial, autosomal dominant" "17y" "gait abnormality, club feet, pes planus, short stature" "6y" "" "" "" "" "" "" "" "SMALED2A" "spinal muscular atrophy, lower extremity-predominant" "" "0000332759" "00198" "00443418" "00006" "Familial, autosomal dominant" "11y" "gait abnormality, club feet, pes planus, hip dysplasia" "4y" "" "" "" "" "" "" "" "SMALED2A" "spinal muscular atrophy, lower extremity-predominant" "" "0000332760" "00198" "00443419" "00006" "Familial, autosomal dominant" "12y" "gait abnormality, club feet, pes planus, hip dysplasia, upper limbs weakness, short stature, lower motor neuron deterioration symptoms" "4y" "" "" "" "" "" "" "" "SMALED2A" "spinal muscular atrophy, lower extremity-predominant" "" "0000332761" "00198" "00443420" "00006" "Familial, autosomal dominant" "6y" "no ambulation, club feet, lower motor neuron deterioration symptoms" "3y" "" "" "" "" "" "" "" "SMALED2A" "spinal muscular atrophy, lower extremity-predominant" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000101832" "00101386" "1" "01949" "01949" "2017-03-28 17:57:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000101833" "00101387" "1" "01949" "01949" "2017-03-28 18:12:50" "" "" "SEQ" "DNA" "" "" "0000101834" "00101385" "1" "01949" "01949" "2017-03-28 18:18:31" "" "" "SEQ" "DNA" "" "" "0000101835" "00101388" "1" "01949" "01949" "2017-03-28 18:26:42" "" "" "SEQ" "DNA" "" "" "0000220064" "00218992" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000308322" "00307180" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308328" "00307186" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308338" "00307196" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308339" "00307197" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000316664" "00315487" "1" "00006" "00006" "2020-10-27 09:56:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316665" "00315488" "1" "00006" "00006" "2020-10-27 09:56:44" "" "" "SEQ;SEQ-NG" "DNA" "" "neurogenic disease panel" "0000328670" "00327457" "1" "03982" "03982" "2021-01-21 14:05:42" "" "" "PCRq;SEQ-NG-I" "DNA" "" "" "0000328804" "00327589" "1" "03982" "03982" "2021-01-21 14:05:42" "" "" "PCRq;SEQ-NG-I" "DNA" "" "" "0000429571" "00428160" "1" "00006" "00006" "2022-12-22 17:22:52" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES after negative gene panel" "0000429646" "00428235" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444119" "00442635" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444120" "00442636" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444265" "00442781" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444906" "00443417" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444907" "00443418" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444908" "00443419" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444909" "00443420" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000101833" "BICD2" "0000101834" "BICD2" "0000101835" "BICD2" "0000220064" "BICD2" "0000308322" "BICD2" "0000308328" "BICD2" "0000308338" "BICD2" "0000308339" "BICD2" "0000316664" "BICD2" "0000316665" "BICD2" "0000328670" "BICD2" "0000328804" "ASCC3" "0000328804" "ATP7A" "0000328804" "BICD2" "0000328804" "CHCHD10" "0000328804" "DNAJB2" "0000328804" "EXOSC8" "0000328804" "EXOSC9" "0000328804" "FBXO38" ## 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 = 108 "{{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}}" "0000164573" "0" "70" "9" "95484963" "95484963" "subst" "0" "01949" "BICD2_000002" "g.95484963T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.92722681T>C" "" "likely pathogenic" "" "0000164574" "0" "70" "9" "95481301" "95481301" "subst" "0" "01949" "BICD2_000003" "g.95481301G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.92719019G>C" "" "likely pathogenic" "" "0000164575" "0" "70" "9" "95480847" "95480847" "subst" "0" "01949" "BICD2_000001" "g.95480847G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92718565G>A" "" "likely pathogenic" "" "0000164576" "0" "70" "9" "95480229" "95480229" "subst" "4.07741E-6" "01949" "BICD2_000004" "g.95480229G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92717947G>A" "" "likely pathogenic" "" "0000258662" "0" "30" "9" "95481484" "95481484" "subst" "6.55732E-5" "02330" "BICD2_000008" "g.95481484G>T" "" "" "" "BICD2(NM_001003800.2):c.1443C>A (p.L481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92719202G>T" "" "likely benign" "" "0000258663" "0" "10" "9" "95481121" "95481121" "subst" "0.00127595" "02330" "BICD2_000007" "g.95481121C>T" "" "" "" "BICD2(NM_001003800.2):c.1806G>A (p.T602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92718839C>T" "" "benign" "" "0000258664" "0" "30" "9" "95477739" "95477739" "subst" "3.89233E-5" "02330" "BICD2_000006" "g.95477739G>A" "" "" "" "BICD2(NM_001003800.2):c.2265C>T (p.D755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92715457G>A" "" "likely benign" "" "0000258665" "0" "10" "9" "95477559" "95477559" "subst" "0.00287566" "02330" "BICD2_000005" "g.95477559C>T" "" "" "" "BICD2(NM_001003800.2):c.2445G>A (p.P815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92715277C>T" "" "benign" "" "0000258666" "0" "30" "9" "95491490" "95491490" "subst" "0.00464127" "02330" "BICD2_000009" "g.95491490T>C" "" "" "" "BICD2(NM_001003800.1):c.269A>G (p.(Lys90Arg)), BICD2(NM_001003800.2):c.269A>G (p.K90R), BICD2(NM_015250.4):c.269A>G (p.K90R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92729208T>C" "" "likely benign" "" "0000258667" "0" "10" "9" "95526955" "95526955" "subst" "0.000663388" "02330" "BICD2_000010" "g.95526955G>C" "" "" "" "BICD2(NM_001003800.2):c.72C>G (p.A24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92764673G>C" "" "benign" "" "0000340586" "0" "10" "9" "95477559" "95477559" "subst" "0.00287566" "02327" "BICD2_000005" "g.95477559C>T" "" "" "" "BICD2(NM_001003800.2):c.2445G>A (p.P815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92715277C>T" "" "benign" "" "0000340587" "0" "30" "9" "95481208" "95481208" "subst" "0" "02327" "BICD2_000014" "g.95481208G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92718926G>T" "" "likely benign" "" "0000340588" "0" "30" "9" "95527095" "95527095" "subst" "0" "02327" "BICD2_000034" "g.95527095T>C" "" "" "" "BICD2(NM_001003800.2):c.-69A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92764813T>C" "" "likely benign" "" "0000343026" "0" "90" "9" "95481425" "95481425" "subst" "0" "02327" "BICD2_000015" "g.95481425C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92719143C>G" "" "pathogenic" "" "0000343329" "0" "70" "9" "95480098" "95480098" "subst" "0" "02327" "BICD2_000012" "g.95480098G>A" "" "" "" "BICD2(NM_001003800.1):c.2239C>T (p.R747C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92717816G>A" "" "likely pathogenic" "" "0000344939" "0" "50" "9" "95480822" "95480822" "subst" "0" "02327" "BICD2_000013" "g.95480822T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92718540T>C" "" "VUS" "" "0000345403" "0" "70" "9" "95481690" "95481690" "subst" "8.12361E-6" "02327" "BICD2_000016" "g.95481690C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92719408C>T" "" "likely pathogenic" "" "0000345432" "0" "50" "9" "95526894" "95526894" "subst" "0" "02327" "BICD2_000021" "g.95526894C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92764612C>G" "" "VUS" "" "0000346619" "0" "90" "9" "95484979" "95484979" "subst" "0" "02327" "BICD2_000019" "g.95484979T>A" "" "" "" "BICD2(NM_001003800.1):c.565A>T (p.I189F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92722697T>A" "" "pathogenic" "" "0000347818" "0" "50" "9" "95481863" "95481863" "subst" "0" "02327" "BICD2_000017" "g.95481863A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92719581A>C" "" "VUS" "" "0000347895" "0" "30" "9" "95480092" "95480092" "subst" "3.6917E-5" "02327" "BICD2_000011" "g.95480092T>C" "" "" "" "BICD2(NM_001003800.2):c.2245A>G (p.M749V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92717810T>C" "" "likely benign" "" "0000348649" "0" "90" "9" "95491439" "95491439" "subst" "0" "02327" "BICD2_000020" "g.95491439G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92729157G>A" "" "pathogenic" "" "0000350779" "0" "50" "9" "95484933" "95484933" "subst" "0" "02327" "BICD2_000018" "g.95484933C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92722651C>T" "" "VUS" "" "0000454957" "1" "90" "9" "95491439" "95491439" "subst" "0" "00006" "BICD2_000020" "g.95491439G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.92729157G>A" "" "pathogenic" "" "0000538676" "0" "30" "9" "95477576" "95477576" "subst" "2.87526E-5" "02327" "BICD2_000022" "g.95477576G>A" "" "" "" "BICD2(NM_001003800.2):c.2428C>T (p.(Arg810Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92715294G>A" "" "likely benign" "" "0000538677" "0" "50" "9" "95477582" "95477582" "subst" "0" "02327" "BICD2_000023" "g.95477582G>A" "" "" "" "BICD2(NM_001003800.2):c.2422C>T (p.R808C, p.(Arg808Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92715300G>A" "" "VUS" "" "0000538678" "0" "30" "9" "95477607" "95477607" "subst" "0.000646635" "02330" "BICD2_000024" "g.95477607G>A" "" "" "" "BICD2(NM_001003800.2):c.2397C>T (p.L799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92715325G>A" "" "likely benign" "" "0000538679" "0" "30" "9" "95480092" "95480092" "subst" "3.6917E-5" "02330" "BICD2_000011" "g.95480092T>C" "" "" "" "BICD2(NM_001003800.2):c.2245A>G (p.M749V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92717810T>C" "" "likely benign" "" "0000538681" "0" "30" "9" "95480934" "95480934" "subst" "8.13332E-6" "02327" "BICD2_000026" "g.95480934C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92718652C>T" "" "likely benign" "" "0000538683" "0" "50" "9" "95481260" "95481260" "subst" "0" "01804" "BICD2_000028" "g.95481260T>G" "" "" "" "BICD2(NM_001003800.1):c.1667A>C (p.(Tyr556Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92718978T>G" "" "VUS" "" "0000538684" "0" "30" "9" "95481391" "95481391" "subst" "8.57185E-5" "02330" "BICD2_000029" "g.95481391G>A" "" "" "" "BICD2(NM_001003800.2):c.1536C>T (p.V512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92719109G>A" "" "likely benign" "" "0000538685" "0" "30" "9" "95481723" "95481723" "subst" "4.06355E-6" "02327" "BICD2_000030" "g.95481723C>T" "" "" "" "BICD2(NM_001003800.2):c.1204G>A (p.A402T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92719441C>T" "" "likely benign" "" "0000538687" "0" "50" "9" "95482770" "95482770" "subst" "0" "02330" "BICD2_000032" "g.95482770G>A" "" "" "" "BICD2(NM_001003800.1):c.874C>T (p.P292S), BICD2(NM_001003800.2):c.874C>T (p.P292S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92720488G>A" "" "VUS" "" "0000538688" "0" "30" "9" "95482828" "95482828" "subst" "2.84285E-5" "01943" "BICD2_000033" "g.95482828G>A" "" "" "" "BICD2(NM_001003800.1):c.816C>T (p.Y272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92720546G>A" "" "likely benign" "" "0000538689" "0" "30" "9" "95491490" "95491490" "subst" "0.00464127" "01804" "BICD2_000009" "g.95491490T>C" "" "" "" "BICD2(NM_001003800.1):c.269A>G (p.(Lys90Arg)), BICD2(NM_001003800.2):c.269A>G (p.K90R), BICD2(NM_015250.4):c.269A>G (p.K90R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92729208T>C" "" "likely benign" "" "0000612193" "0" "50" "9" "95481254" "95481254" "subst" "8.35408E-6" "02330" "BICD2_000035" "g.95481254C>A" "" "" "" "BICD2(NM_001003800.2):c.1673G>T (p.R558L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92718972C>A" "" "VUS" "" "0000612194" "0" "50" "9" "95481272" "95481272" "subst" "0" "02327" "BICD2_000036" "g.95481272A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92718990A>G" "" "VUS" "" "0000612195" "0" "50" "9" "95481677" "95481677" "subst" "0.000150284" "02330" "BICD2_000037" "g.95481677T>C" "" "" "" "BICD2(NM_001003800.2):c.1250A>G (p.D417G, p.(Asp417Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92719395T>C" "" "VUS" "" "0000612196" "0" "30" "9" "95481710" "95481710" "subst" "2.43744E-5" "01804" "BICD2_000038" "g.95481710C>T" "" "" "" "BICD2(NM_001003800.1):c.1217G>A (p.(Arg406Gln)), BICD2(NM_001003800.2):c.1217G>A (p.R406Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92719428C>T" "" "likely benign" "" "0000612197" "0" "70" "9" "95484979" "95484979" "subst" "0" "01943" "BICD2_000019" "g.95484979T>A" "" "" "" "BICD2(NM_001003800.1):c.565A>T (p.I189F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92722697T>A" "" "likely pathogenic" "" "0000656389" "0" "50" "9" "95481710" "95481710" "subst" "2.43744E-5" "02330" "BICD2_000038" "g.95481710C>T" "" "" "" "BICD2(NM_001003800.1):c.1217G>A (p.(Arg406Gln)), BICD2(NM_001003800.2):c.1217G>A (p.R406Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92719428C>T" "" "VUS" "" "0000675280" "0" "90" "9" "95480224" "95480224" "subst" "0" "00534" "BICD2_000039" "g.95480224C>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "De novo" "" "" "0" "" "" "g.92717942C>T" "" "pathogenic (dominant)" "ACMG" "0000675286" "0" "70" "9" "95483016" "95483016" "subst" "0" "00534" "BICD2_000044" "g.95483016G>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "De novo" "" "" "0" "" "" "g.92720734G>T" "" "likely pathogenic (dominant)" "ACMG" "0000675296" "0" "90" "9" "95481323" "95481323" "subst" "0" "00534" "BICD2_000040" "g.95481323G>A" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "De novo" "" "" "0" "" "" "g.92719041G>A" "" "pathogenic (dominant)" "ACMG" "0000675297" "0" "70" "9" "95481368" "95481368" "subst" "0" "00534" "BICD2_000041" "g.95481368A>G" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "De novo" "" "" "0" "" "" "g.92719086A>G" "" "likely pathogenic (dominant)" "ACMG" "0000678733" "0" "30" "9" "95482858" "95482858" "subst" "4.06101E-6" "02330" "BICD2_000042" "g.95482858T>C" "" "" "" "BICD2(NM_001003800.2):c.786A>G (p.S262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678734" "0" "70" "9" "95483015" "95483015" "subst" "0" "01943" "BICD2_000043" "g.95483015T>C" "" "" "" "BICD2(NM_001003800.1):c.629A>G (p.H210R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690608" "0" "30" "9" "95480064" "95480064" "subst" "0.00104223" "02326" "BICD2_000045" "g.95480064C>G" "" "" "" "BICD2(NM_001003800.2):c.2258+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690609" "0" "70" "9" "95480098" "95480098" "subst" "0" "01943" "BICD2_000012" "g.95480098G>A" "" "" "" "BICD2(NM_001003800.1):c.2239C>T (p.R747C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690610" "0" "50" "9" "95483006" "95483006" "subst" "2.03118E-5" "02330" "BICD2_000046" "g.95483006T>C" "" "" "" "BICD2(NM_001003800.2):c.638A>G (p.K213R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690611" "0" "90" "9" "95484981" "95484981" "subst" "0" "02326" "BICD2_000047" "g.95484981T>G" "" "" "" "BICD2(NM_001003800.2):c.563A>C (p.N188T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000698825" "0" "90" "9" "95480847" "95480847" "subst" "0" "00006" "BICD2_000001" "g.95480847G>A" "" "{PMID:Ravenscroft 2016:27751653}, {PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "De novo" "" "" "0" "" "" "g.92718565G>A" "" "pathogenic (dominant)" "" "0000698826" "0" "90" "9" "95480847" "95480847" "subst" "0" "00006" "BICD2_000001" "g.95480847G>A" "" "{PMID:Ravenscroft 2016:27751653}, {PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "De novo" "" "" "0" "" "" "g.92718565G>A" "" "pathogenic (dominant)" "" "0000712633" "0" "90" "9" "95480847" "95480847" "subst" "0" "03982" "BICD2_000001" "g.95480847G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.92718565G>A" "" "pathogenic" "" "0000712902" "21" "90" "9" "95480847" "95480847" "subst" "0" "03982" "BICD2_000001" "g.95480847G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000722597" "0" "30" "9" "95477559" "95477559" "subst" "0.00287566" "02326" "BICD2_000005" "g.95477559C>T" "" "" "" "BICD2(NM_001003800.2):c.2445G>A (p.P815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722598" "0" "70" "9" "95480879" "95480879" "subst" "0" "02325" "BICD2_000048" "g.95480879A>G" "" "" "" "BICD2(NM_001003800.2):c.2048T>C (p.L683P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722599" "0" "50" "9" "95481186" "95481186" "subst" "4.18893E-5" "02329" "BICD2_000027" "g.95481186G>A" "" "" "" "BICD2(NM_001003800.1):c.1741C>T (p.R581C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722600" "0" "50" "9" "95482701" "95482703" "del" "0" "02329" "BICD2_000031" "g.95482701_95482703del" "" "" "" "BICD2(NM_001003800.1):c.945_947delCAA (p.N315del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722601" "0" "50" "9" "95482770" "95482770" "subst" "0" "02329" "BICD2_000032" "g.95482770G>A" "" "" "" "BICD2(NM_001003800.1):c.874C>T (p.P292S), BICD2(NM_001003800.2):c.874C>T (p.P292S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804225" "0" "50" "9" "95481578" "95481578" "subst" "4.07704E-6" "02330" "BICD2_000049" "g.95481578C>T" "" "" "" "BICD2(NM_001003800.2):c.1349G>A (p.R450H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852335" "0" "50" "9" "95477657" "95477657" "subst" "4.07432E-6" "02330" "BICD2_000050" "g.95477657G>A" "" "" "" "BICD2(NM_001003800.2):c.2347C>T (p.R783C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852336" "0" "30" "9" "95477764" "95477764" "subst" "0.00020616" "02330" "BICD2_000051" "g.95477764T>C" "" "" "" "BICD2(NM_001003800.2):c.2259-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852337" "0" "30" "9" "95481578" "95481578" "subst" "4.07704E-6" "02327" "BICD2_000049" "g.95481578C>T" "" "" "" "BICD2(NM_001003800.2):c.1349G>A (p.R450H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861762" "0" "50" "9" "95477582" "95477582" "subst" "0" "02330" "BICD2_000023" "g.95477582G>A" "" "" "" "BICD2(NM_001003800.2):c.2422C>T (p.R808C, p.(Arg808Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861763" "0" "30" "9" "95481320" "95481320" "subst" "0" "02327" "BICD2_000052" "g.95481320T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888925" "0" "10" "9" "95473719" "95473719" "subst" "0" "02326" "BICD2_000053" "g.95473719G>A" "" "" "" "BICD2(NM_001003800.2):c.*3717C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888926" "0" "10" "9" "95479978" "95479978" "subst" "0" "02326" "BICD2_000054" "g.95479978C>T" "" "" "" "BICD2(NM_001003800.2):c.2258+101G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888927" "0" "30" "9" "95481019" "95481019" "subst" "0" "02330" "BICD2_000055" "g.95481019G>A" "" "" "" "BICD2(NM_001003800.2):c.1908C>T (p.D636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888928" "0" "50" "9" "95481393" "95481393" "subst" "0" "02330" "BICD2_000056" "g.95481393C>G" "" "" "" "BICD2(NM_001003800.2):c.1534G>C (p.V512L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888929" "0" "50" "9" "95481461" "95481461" "subst" "0" "02327" "BICD2_000057" "g.95481461T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888930" "0" "10" "9" "95481975" "95481975" "subst" "0" "02326" "BICD2_000058" "g.95481975C>G" "" "" "" "BICD2(NM_001003800.2):c.1063-111G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888931" "0" "10" "9" "95481994" "95481994" "subst" "0" "02326" "BICD2_000059" "g.95481994C>T" "" "" "" "BICD2(NM_001003800.2):c.1063-130G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888932" "0" "10" "9" "95482594" "95482594" "subst" "0.000451641" "02330" "BICD2_000060" "g.95482594C>T" "" "" "" "BICD2(NM_001003800.2):c.1050G>A (p.Q350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888933" "0" "10" "9" "95526667" "95526667" "subst" "0" "02326" "BICD2_000061" "g.95526667G>C" "" "" "" "BICD2(NM_001003800.2):c.240+120C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888934" "0" "10" "9" "95527092" "95527094" "dup" "0" "02326" "BICD2_000062" "g.95527092_95527094dup" "" "" "" "BICD2(NM_001003800.2):c.-60_-58dupGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888935" "0" "10" "9" "95527095" "95527095" "subst" "0" "02326" "BICD2_000034" "g.95527095T>C" "" "" "" "BICD2(NM_001003800.2):c.-69A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000909151" "0" "90" "9" "95484951" "95484951" "subst" "0" "00006" "BICD2_000063" "g.95484951A>G" "" "{PMID:Oliwa 2022:36057830}" "" "" "" "De novo" "" "" "0" "" "" "g.92722669A>G" "" "pathogenic (dominant)" "" "0000909231" "0" "50" "9" "95480822" "95480822" "subst" "0" "00006" "BICD2_000013" "g.95480822T>C" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92718540T>C" "" "VUS" "" "0000925080" "0" "90" "9" "95481302" "95481302" "subst" "0" "02327" "BICD2_000064" "g.95481302C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000945976" "0" "90" "9" "95481425" "95481425" "subst" "0" "00006" "BICD2_000015" "g.95481425C>G" "" "{PMID:Westra 2019:31127727}" "" "" "" "De novo" "" "" "0" "" "" "g.92719143C>G" "" "pathogenic (dominant)" "" "0000945977" "0" "90" "9" "95491439" "95491439" "subst" "0" "00006" "BICD2_000020" "g.95491439G>A" "" "{PMID:Westra 2019:31127727}" "" "NM_015250.3:c.320C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92729157G>A" "" "pathogenic" "" "0000946121" "0" "50" "9" "95481690" "95481690" "subst" "8.12361E-6" "00006" "BICD2_000016" "g.95481690C>T" "" "{PMID:Westra 2019:31127727}" "" "" "most probably de novo (parental material from paraffin-embedded material); does not explain clinics" "Germline/De novo (untested)" "" "" "0" "" "" "g.92719408C>T" "" "VUS" "" "0000946842" "21" "70" "9" "95480181" "95480181" "subst" "0" "00006" "BICD2_000065" "g.95480181T>A" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PM1, PM2, PP1, PP2, PP3, PP4" "Germline" "yes" "" "0" "" "" "g.92717899T>A" "" "likely pathogenic (recessive)" "" "0000946843" "21" "70" "9" "95480181" "95480181" "subst" "0" "00006" "BICD2_000065" "g.95480181T>A" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PM1, PM2, PP1, PP2, PP3, PP4" "Germline" "yes" "" "0" "" "" "g.92717899T>A" "" "likely pathogenic (recessive)" "" "0000946844" "21" "70" "9" "95480181" "95480181" "subst" "0" "00006" "BICD2_000065" "g.95480181T>A" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PM1, PM2, PP1, PP2, PP3, PP4" "Germline" "yes" "" "0" "" "" "g.92717899T>A" "" "likely pathogenic (recessive)" "" "0000946845" "21" "70" "9" "95480181" "95480181" "subst" "0" "00006" "BICD2_000065" "g.95480181T>A" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PM1, PM2, PP1, PP2, PP3, PP4" "Germline" "yes" "" "0" "" "" "g.92717899T>A" "" "likely pathogenic (recessive)" "" "0000949323" "0" "50" "9" "95480867" "95480867" "subst" "4.0778E-6" "02327" "BICD2_000066" "g.95480867C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949324" "0" "30" "9" "95481800" "95481800" "subst" "0.000144071" "02330" "BICD2_000067" "g.95481800G>A" "" "" "" "BICD2(NM_001003800.2):c.1127C>T (p.T376M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949326" "0" "30" "9" "95491381" "95491381" "subst" "3.24868E-5" "02330" "BICD2_000068" "g.95491381C>T" "" "" "" "BICD2(NM_001003800.2):c.378G>A (p.K126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949327" "0" "30" "9" "95526955" "95526955" "subst" "0.000663388" "02326" "BICD2_000010" "g.95526955G>C" "" "" "" "BICD2(NM_001003800.2):c.72C>G (p.A24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978813" "0" "30" "9" "95477576" "95477576" "subst" "2.87526E-5" "01804" "BICD2_000022" "g.95477576G>A" "" "" "" "BICD2(NM_001003800.2):c.2428C>T (p.(Arg810Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978814" "0" "50" "9" "95477582" "95477582" "subst" "0" "01804" "BICD2_000023" "g.95477582G>A" "" "" "" "BICD2(NM_001003800.2):c.2422C>T (p.R808C, p.(Arg808Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978815" "0" "30" "9" "95481023" "95481023" "subst" "2.45036E-5" "01804" "BICD2_000069" "g.95481023C>T" "" "" "" "BICD2(NM_001003800.2):c.1904G>A (p.(Arg635His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978816" "0" "50" "9" "95481723" "95481723" "subst" "4.06355E-6" "02330" "BICD2_000030" "g.95481723C>T" "" "" "" "BICD2(NM_001003800.2):c.1204G>A (p.A402T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978817" "0" "30" "9" "95491438" "95491438" "subst" "1.62439E-5" "02330" "BICD2_000070" "g.95491438C>T" "" "" "" "BICD2(NM_001003800.2):c.321G>A (p.S107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989359" "0" "50" "9" "95481441" "95481441" "subst" "0" "03779" "BICD2_000071" "g.95481441G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1457844438" "0" "" "" "" "" "VUS" "" "0000998001" "0" "50" "9" "95477489" "95477489" "subst" "2.45535E-5" "01804" "BICD2_000072" "g.95477489C>T" "" "" "" "BICD2(NM_001003800.1):c.2515G>A (p.(Gly839Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998002" "0" "50" "9" "95477585" "95477585" "subst" "2.0479E-5" "01804" "BICD2_000073" "g.95477585G>A" "" "" "" "BICD2(NM_001003800.1):c.2419C>T (p.(Arg807Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998003" "0" "50" "9" "95480981" "95480981" "subst" "1.62767E-5" "01804" "BICD2_000074" "g.95480981G>A" "" "" "" "BICD2(NM_001003800.1):c.1946C>T (p.(Thr649Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998004" "0" "50" "9" "95481444" "95481444" "subst" "4.09256E-6" "01804" "BICD2_000075" "g.95481444C>G" "" "" "" "BICD2(NM_001003800.1):c.1483G>C (p.(Asp495His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998005" "0" "30" "9" "95481716" "95481716" "subst" "1.62516E-5" "01804" "BICD2_000076" "g.95481716T>C" "" "" "" "BICD2(NM_001003800.1):c.1211A>G (p.(Lys404Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998006" "0" "50" "9" "95481761" "95481761" "subst" "2.03781E-5" "01804" "BICD2_000077" "g.95481761C>T" "" "" "" "BICD2(NM_001003800.1):c.1166G>A (p.(Arg389His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998007" "0" "30" "9" "95491355" "95491355" "subst" "4.46722E-5" "01804" "BICD2_000078" "g.95491355G>A" "" "" "" "BICD2(NM_001003800.1):c.404C>T (p.(Thr135Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037632" "0" "50" "9" "95481384" "95481384" "subst" "0" "01804" "BICD2_000079" "g.95481384C>T" "" "" "" "BICD2(NM_001003800.2):c.1543G>A (p.(Glu515Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037633" "0" "50" "9" "95481677" "95481677" "subst" "0.000150284" "01804" "BICD2_000037" "g.95481677T>C" "" "" "" "BICD2(NM_001003800.2):c.1250A>G (p.D417G, p.(Asp417Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046216" "0" "30" "9" "95481489" "95481489" "subst" "2.86866E-5" "02326" "BICD2_000080" "g.95481489C>T" "" "" "" "BICD2(NM_001003800.2):c.1438G>A (p.A480T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047003" "0" "70" "9" "95480106" "95480106" "subst" "0" "03779" "BICD2_000081" "g.95480106G>A" "" "" "" "" "" "Unknown" "" "rs1064793875" "0" "" "" "" "" "likely pathogenic" "" ## 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 BICD2 ## Count = 108 "{{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}}" "0000164573" "00025784" "50" "581" "0" "581" "0" "c.581A>G" "r.(?)" "p.(Gln194Arg)" "" "0000164574" "00025784" "70" "1626" "0" "1626" "0" "c.1626C>G" "r.(?)" "p.(Cys542Trp)" "" "0000164575" "00025784" "70" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Arg694Cys)" "" "0000164576" "00025784" "70" "2108" "0" "2108" "0" "c.2108C>T" "r.(?)" "p.(Thr703Met)" "" "0000258662" "00025784" "30" "1443" "0" "1443" "0" "c.1443C>A" "r.(?)" "p.(Leu481=)" "" "0000258663" "00025784" "10" "1806" "0" "1806" "0" "c.1806G>A" "r.(?)" "p.(Thr602=)" "" "0000258664" "00025784" "30" "2265" "0" "2265" "0" "c.2265C>T" "r.(?)" "p.(Asp755=)" "" "0000258665" "00025784" "10" "2445" "0" "2445" "0" "c.2445G>A" "r.(?)" "p.(Pro815=)" "" "0000258666" "00025784" "30" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Lys90Arg)" "" "0000258667" "00025784" "10" "72" "0" "72" "0" "c.72C>G" "r.(?)" "p.(Ala24=)" "" "0000340586" "00025784" "10" "2445" "0" "2445" "0" "c.2445G>A" "r.(?)" "p.(Pro815=)" "" "0000340587" "00025784" "30" "1719" "0" "1719" "0" "c.1719C>A" "r.(?)" "p.(Thr573=)" "" "0000340588" "00025784" "30" "-69" "0" "-69" "0" "c.-69A>G" "r.(?)" "p.(=)" "" "0000343026" "00025784" "90" "1502" "0" "1502" "0" "c.1502G>C" "r.(?)" "p.(Arg501Pro)" "" "0000343329" "00025784" "70" "2239" "0" "2239" "0" "c.2239C>T" "r.(?)" "p.(Arg747Cys)" "" "0000344939" "00025784" "50" "2105" "0" "2105" "0" "c.2105A>G" "r.(?)" "p.(Gln702Arg)" "" "0000345403" "00025784" "70" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Glu413Lys)" "" "0000345432" "00025784" "50" "133" "0" "133" "0" "c.133G>C" "r.(?)" "p.(Glu45Gln)" "" "0000346619" "00025784" "90" "565" "0" "565" "0" "c.565A>T" "r.(?)" "p.(Ile189Phe)" "" "0000347818" "00025784" "50" "1064" "0" "1064" "0" "c.1064T>G" "r.(?)" "p.(Met355Arg)" "" "0000347895" "00025784" "30" "2245" "0" "2245" "0" "c.2245A>G" "r.(?)" "p.(Met749Val)" "" "0000348649" "00025784" "90" "320" "0" "320" "0" "c.320C>T" "r.(?)" "p.(Ser107Leu)" "" "0000350779" "00025784" "50" "606" "5" "606" "5" "c.606+5G>A" "r.spl?" "p.?" "" "0000454957" "00025784" "90" "320" "0" "320" "0" "c.320C>T" "r.(?)" "p.(Ser107Leu)" "" "0000538676" "00025784" "30" "2428" "0" "2428" "0" "c.2428C>T" "r.(?)" "p.(Arg810Cys)" "" "0000538677" "00025784" "50" "2422" "0" "2422" "0" "c.2422C>T" "r.(?)" "p.(Arg808Cys)" "" "0000538678" "00025784" "30" "2397" "0" "2397" "0" "c.2397C>T" "r.(?)" "p.(Leu799=)" "" "0000538679" "00025784" "30" "2245" "0" "2245" "0" "c.2245A>G" "r.(?)" "p.(Met749Val)" "" "0000538681" "00025784" "30" "1993" "0" "1993" "0" "c.1993G>A" "r.(?)" "p.(Val665Met)" "" "0000538683" "00025784" "50" "1667" "0" "1667" "0" "c.1667A>C" "r.(?)" "p.(Tyr556Ser)" "" "0000538684" "00025784" "30" "1536" "0" "1536" "0" "c.1536C>T" "r.(?)" "p.(Val512=)" "" "0000538685" "00025784" "30" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Ala402Thr)" "" "0000538687" "00025784" "50" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Pro292Ser)" "" "0000538688" "00025784" "30" "816" "0" "816" "0" "c.816C>T" "r.(?)" "p.(Tyr272=)" "" "0000538689" "00025784" "30" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Lys90Arg)" "" "0000612193" "00025784" "50" "1673" "0" "1673" "0" "c.1673G>T" "r.(?)" "p.(Arg558Leu)" "" "0000612194" "00025784" "50" "1655" "0" "1655" "0" "c.1655T>C" "r.(?)" "p.(Val552Ala)" "" "0000612195" "00025784" "50" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Asp417Gly)" "" "0000612196" "00025784" "30" "1217" "0" "1217" "0" "c.1217G>A" "r.(?)" "p.(Arg406Gln)" "" "0000612197" "00025784" "70" "565" "0" "565" "0" "c.565A>T" "r.(?)" "p.(Ile189Phe)" "" "0000656389" "00025784" "50" "1217" "0" "1217" "0" "c.1217G>A" "r.(?)" "p.(Arg406Gln)" "" "0000675280" "00025784" "90" "2113" "0" "2113" "0" "c.2113G>A" "r.(?)" "p.(Glu705Lys)" "" "0000675286" "00025784" "70" "628" "0" "628" "0" "c.628C>A" "r.(?)" "p.(His210Asn)" "" "0000675296" "00025784" "90" "1604" "0" "1604" "0" "c.1604C>T" "r.(?)" "p.(Ala535Val)" "" "0000675297" "00025784" "70" "1559" "0" "1559" "0" "c.1559T>C" "r.(?)" "p.(Leu520Pro)" "" "0000678733" "00025784" "30" "786" "0" "786" "0" "c.786A>G" "r.(?)" "p.(Ser262=)" "" "0000678734" "00025784" "70" "629" "0" "629" "0" "c.629A>G" "r.(?)" "p.(His210Arg)" "" "0000690608" "00025784" "30" "2258" "15" "2258" "15" "c.2258+15G>C" "r.(=)" "p.(=)" "" "0000690609" "00025784" "70" "2239" "0" "2239" "0" "c.2239C>T" "r.(?)" "p.(Arg747Cys)" "" "0000690610" "00025784" "50" "638" "0" "638" "0" "c.638A>G" "r.(?)" "p.(Lys213Arg)" "" "0000690611" "00025784" "90" "563" "0" "563" "0" "c.563A>C" "r.(?)" "p.(Asn188Thr)" "" "0000698825" "00025784" "90" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Arg694Cys)" "" "0000698826" "00025784" "90" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Arg694Cys)" "" "0000712633" "00025784" "90" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Arg694Cys)" "" "0000712902" "00025784" "90" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Arg694Cys)" "" "0000722597" "00025784" "30" "2445" "0" "2445" "0" "c.2445G>A" "r.(?)" "p.(Pro815=)" "" "0000722598" "00025784" "70" "2048" "0" "2048" "0" "c.2048T>C" "r.(?)" "p.(Leu683Pro)" "" "0000722599" "00025784" "50" "1741" "0" "1741" "0" "c.1741C>T" "r.(?)" "p.(Arg581Cys)" "" "0000722600" "00025784" "50" "945" "0" "947" "0" "c.945_947del" "r.(?)" "p.(Asn315del)" "" "0000722601" "00025784" "50" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Pro292Ser)" "" "0000804225" "00025784" "50" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "" "0000852335" "00025784" "50" "2347" "0" "2347" "0" "c.2347C>T" "r.(?)" "p.(Arg783Cys)" "" "0000852336" "00025784" "30" "2259" "-19" "2259" "-19" "c.2259-19A>G" "r.(=)" "p.(=)" "" "0000852337" "00025784" "30" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "" "0000861762" "00025784" "50" "2422" "0" "2422" "0" "c.2422C>T" "r.(?)" "p.(Arg808Cys)" "" "0000861763" "00025784" "30" "1607" "0" "1607" "0" "c.1607A>G" "r.(?)" "p.(Asn536Ser)" "" "0000888925" "00025784" "10" "6285" "0" "6285" "0" "c.*3717C>T" "r.(=)" "p.(=)" "" "0000888926" "00025784" "10" "2258" "101" "2258" "101" "c.2258+101G>A" "r.(=)" "p.(=)" "" "0000888927" "00025784" "30" "1908" "0" "1908" "0" "c.1908C>T" "r.(?)" "p.(Asp636=)" "" "0000888928" "00025784" "50" "1534" "0" "1534" "0" "c.1534G>C" "r.(?)" "p.(Val512Leu)" "" "0000888929" "00025784" "50" "1466" "0" "1466" "0" "c.1466A>G" "r.(?)" "p.(Glu489Gly)" "" "0000888930" "00025784" "10" "1063" "-111" "1063" "-111" "c.1063-111G>C" "r.(=)" "p.(=)" "" "0000888931" "00025784" "10" "1063" "-130" "1063" "-130" "c.1063-130G>A" "r.(=)" "p.(=)" "" "0000888932" "00025784" "10" "1050" "0" "1050" "0" "c.1050G>A" "r.(?)" "p.(Gln350=)" "" "0000888933" "00025784" "10" "240" "120" "240" "120" "c.240+120C>G" "r.(=)" "p.(=)" "" "0000888934" "00025784" "10" "-60" "0" "-58" "0" "c.-60_-58dup" "r.(?)" "p.(=)" "" "0000888935" "00025784" "10" "-69" "0" "-69" "0" "c.-69A>G" "r.(?)" "p.(=)" "" "0000909151" "00025784" "90" "593" "0" "593" "0" "c.593T>C" "r.(?)" "p.(Leu198Pro)" "" "0000909231" "00025784" "50" "2105" "0" "2105" "0" "c.2105A>G" "r.(?)" "p.(Gln702Arg)" "" "0000925080" "00025784" "90" "1625" "0" "1625" "0" "c.1625G>A" "r.(?)" "p.(Cys542Tyr)" "" "0000945976" "00025784" "90" "1502" "0" "1502" "0" "c.1502G>C" "r.(?)" "p.(Arg501Pro)" "" "0000945977" "00025784" "90" "320" "0" "320" "0" "c.320C>T" "r.(?)" "p.(Ser107Leu)" "" "0000946121" "00025784" "50" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Glu413Lys)" "" "0000946842" "00025784" "70" "2156" "0" "2156" "0" "c.2156A>T" "r.(?)" "p.(Lys719Met)" "" "0000946843" "00025784" "70" "2156" "0" "2156" "0" "c.2156A>T" "r.(?)" "p.(Lys719Met)" "" "0000946844" "00025784" "70" "2156" "0" "2156" "0" "c.2156A>T" "r.(?)" "p.(Lys719Met)" "" "0000946845" "00025784" "70" "2156" "0" "2156" "0" "c.2156A>T" "r.(?)" "p.(Lys719Met)" "" "0000949323" "00025784" "50" "2060" "0" "2060" "0" "c.2060G>A" "r.(?)" "p.(Arg687Gln)" "" "0000949324" "00025784" "30" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "" "0000949326" "00025784" "30" "378" "0" "378" "0" "c.378G>A" "r.(?)" "p.(=)" "" "0000949327" "00025784" "30" "72" "0" "72" "0" "c.72C>G" "r.(?)" "p.(Ala24=)" "" "0000978813" "00025784" "30" "2428" "0" "2428" "0" "c.2428C>T" "r.(?)" "p.(Arg810Cys)" "" "0000978814" "00025784" "50" "2422" "0" "2422" "0" "c.2422C>T" "r.(?)" "p.(Arg808Cys)" "" "0000978815" "00025784" "30" "1904" "0" "1904" "0" "c.1904G>A" "r.(?)" "p.(Arg635His)" "" "0000978816" "00025784" "50" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Ala402Thr)" "" "0000978817" "00025784" "30" "321" "0" "321" "0" "c.321G>A" "r.(?)" "p.(=)" "" "0000989359" "00025784" "50" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496Cys)" "" "0000998001" "00025784" "50" "2515" "0" "2515" "0" "c.2515G>A" "r.(?)" "p.(Gly839Arg)" "" "0000998002" "00025784" "50" "2419" "0" "2419" "0" "c.2419C>T" "r.(?)" "p.(Arg807Trp)" "" "0000998003" "00025784" "50" "1946" "0" "1946" "0" "c.1946C>T" "r.(?)" "p.(Thr649Met)" "" "0000998004" "00025784" "50" "1483" "0" "1483" "0" "c.1483G>C" "r.(?)" "p.(Asp495His)" "" "0000998005" "00025784" "30" "1211" "0" "1211" "0" "c.1211A>G" "r.(?)" "p.(Lys404Arg)" "" "0000998006" "00025784" "50" "1166" "0" "1166" "0" "c.1166G>A" "r.(?)" "p.(Arg389His)" "" "0000998007" "00025784" "30" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Thr135Met)" "" "0001037632" "00025784" "50" "1543" "0" "1543" "0" "c.1543G>A" "r.(?)" "p.(Glu515Lys)" "" "0001037633" "00025784" "50" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Asp417Gly)" "" "0001046216" "00025784" "30" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Ala480Thr)" "" "0001047003" "00025784" "70" "2231" "0" "2231" "0" "c.2231C>T" "r.(?)" "p.(Ser744Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000101832" "0000164573" "0000101833" "0000164574" "0000101834" "0000164575" "0000101835" "0000164576" "0000220064" "0000454957" "0000308322" "0000675280" "0000308328" "0000675286" "0000308338" "0000675296" "0000308339" "0000675297" "0000316664" "0000698825" "0000316665" "0000698826" "0000328670" "0000712633" "0000328804" "0000712902" "0000429571" "0000909151" "0000429646" "0000909231" "0000444119" "0000945976" "0000444120" "0000945977" "0000444265" "0000946121" "0000444906" "0000946842" "0000444907" "0000946843" "0000444908" "0000946844" "0000444909" "0000946845"