### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CWC27) # 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}}" "CWC27" "CWC27 spliceosome-associated protein homolog (S. cerevisiae)" "5" "q12.3" "unknown" "NC_000005.9" "UD_133033924554" "" "https://www.LOVD.nl/CWC27" "" "1" "10664" "10283" "617170" "1" "1" "1" "1" "" "" "g" "https://databases.lovd.nl/shared/refseq/CWC27_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-21 17:24:01" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00005908" "CWC27" "CWC27 spliceosome-associated protein homolog (S. cerevisiae)" "001" "NM_005869.2" "" "NP_005860.2" "" "" "" "-219" "1861" "1419" "64064755" "64314590" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05409" "RPSKA" "retinitis pigmentosa, with/without skeletal anomalies (RPSKA)" "AR" "250410" "" "autosomal recessive" "" "00006" "2018-03-21 17:27:28" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CWC27" "05409" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00155291" "" "" "" "2" "" "00006" "{PMID:Xu 2017:28285769}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "no" "Spain" "" "0" "" "" "" "28285769-Fam2PatII1" "00155292" "" "" "00155291" "1" "" "00006" "{PMID:Xu 2017:28285769}" "PatII2" "F" "no" "Spain" "" "0" "" "" "" "28285769-Fam2PatII2" "00155293" "" "" "" "1" "" "00006" "{PMID:Xu 2017:28285769}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "Han Chinese" "28285769-Fam3PatII1" "00155294" "" "" "" "2" "" "00006" "{PMID:Xu 2017:28285769}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Morocco" "" "0" "" "" "" "28285769-Fam4PatII3" "00155296" "" "" "00155294" "1" "" "00006" "{PMID:Xu 2017:28285769}" "PatII4" "M" "yes" "Morocco" "" "0" "" "" "" "28285769-Fam4PatII4" "00155297" "" "" "" "1" "" "00006" "{PMID:Xu 2017:28285769}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "India" "" "0" "" "" "" "28285769-Fam5PatII1" "00155298" "" "" "" "1" "" "00006" "{PMID:Xu 2017:28285769}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "M" "no" "India" "" "0" "" "" "" "28285769-Fam6PatII1" "00155300" "" "" "" "1" "" "00006" "{PMID:Xu 2017:28285769}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "Han Chinese" "28285769-Fam7PatII1" "00228271" "" "" "" "1" "" "02494" "" "" "F" "yes" "Spain" "18y" "0" "" "" "White" "" "00395561" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-0185" "00409222" "" "" "" "1" "" "00000" "{PMID:Xu 2017:28285769}" "2-generation family, affected two brothers, unaffected three brothers heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "Yemenite" "28285769-Fam1PatI4" "00409232" "" "" "" "1" "" "00000" "{PMID:Xu 2017:28285769}" "2-generation family, affected two brothers, unaffected three brothers heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "Yemenite" "28285769-Fam1PatI3" "00409233" "" "" "" "1" "" "00000" "{PMID:Brea-Fernandez 2019:31481716}" "expanded phenotype, not typical retinitis pigmentosa, with/without skeletal anomalies (RPSKA)" "F" "yes" "Spain" "" "0" "" "" "" "?" "00447302" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1204" "00447599" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1015" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00155291" "05409" "00155292" "05409" "00155293" "05409" "00155294" "05409" "00155296" "05409" "00155297" "05409" "00155298" "05409" "00155300" "05409" "00228271" "05409" "00395561" "04214" "00409222" "05409" "00409232" "05409" "00409233" "00198" "00447302" "00198" "00447599" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04214, 05409 ## Count = 15 "{{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}}" "0000127794" "05409" "00155291" "00006" "Familial, autosomal recessive" "66y" "cranio-facial defects (HP:0000234), brachydactyly (HP:0001156), short stature (HP:0004322), retinitis pigmentosa (HP:0008035), moderate intellectual disability (HP:0002342), psychomotor retardation, unspecific endocrinological dysfunction" "10y" "" "night blindness" "" "" "" "" "" "RPSKA" "retinitis pigmentosa" "" "0000127795" "05409" "00155292" "00006" "Familial, autosomal recessive" "64y" "cranio-facial defects (HP:0000234), brachydactyly (HP:0001156), short stature (HP:0004322), retinitis pigmentosa (HP:0008035), moderate intellectual disability (HP:0002342), unspecific endocrinological dysfunction" "10y" "" "night blindness" "" "" "" "" "" "RPSKA" "retinitis pigmentosa" "" "0000127796" "05409" "00155293" "00006" "Familial, autosomal recessive" "" "no cranio-facial defects (-HP:0000234), no brachydactyly (-HP:0001156), no short stature (-HP:0004322), retinitis pigmentosa (HP:0008035), no neurological defects (-HP:0000707)" "09y" "" "night blindness" "" "" "" "" "" "RPSKA" "retinitis pigmentosa" "" "0000127797" "05409" "00155294" "00006" "Familial, autosomal recessive" "17y" "cranio-facial defects (HP:0000234), brachydactyly (HP:0001156), short stature (HP:0004322), intellectual disability (HP:0001249), feeding difficulty, severe psychomotor retardation, alopecia, absent eyebrows and eyelashes, ichthyosis, multiple kidney cysts, ERG flat, altered visual evoked potential response" "<00y00m00d" "" "kidney cysts" "" "" "" "" "" "RPSKA" "retinitis pigmentosa" "" "0000127798" "05409" "00155296" "00006" "Familial, autosomal recessive" "12y" "cranio-facial defects (HP:0000234), brachydactyly (HP:0001156), short stature (HP:0004322), intellectual disability (HP:0001249), feeding difficulty, severe psychomotor retardation, cortical atrophy, ERG flat, altered visual evoked potential response, alopecia, absent eyebrows and eyelashes, ichthyosis, ectopic testis" "<00y00m00d" "" "intrauterine growth retardation" "" "" "" "" "" "RPSKA" "retinitis pigmentosa" "" "0000127799" "05409" "00155297" "00006" "Familial, autosomal recessive" "23y" "cranio-facial defects (HP:0000234), brachydactyly (HP:0001156), short stature (HP:0004322), retinitis pigmentosa (HP:0008035), neonatal hypotonia, inguinal hernia, bladder cyst, heart murmur, intellectual disability (HP:0001249), 6y-speech delay, 2y-delay of walking, 2y-feeding difficulty, Arnold-Chiari malformation type 1" "08y" "" "retinitis pigmentosa" "" "" "" "" "" "RPSKA" "retinitis pigmentosa" "" "0000127800" "05409" "00155298" "00006" "Familial, autosomal recessive" "02y" "cranio-facial defects (HP:0000234), brachydactyly (HP:0001156), short stature (HP:0004322), 2m-no retinitis pigmentosa (-HP:0008035), 1y7m-no neurological defects (-HP:0000707), bilateral superior vena cava, 2 large ventricular septal defects, horseshoe kidney" "00y00m01d" "" "craniosynostosis" "" "" "" "" "" "RPSKA" "retinitis pigmentosa" "" "0000127801" "05409" "00155300" "00006" "Familial, autosomal recessive" "07y" "no cranio-facial defects (-HP:0000234), mild brachydactyly (HP:0001156), short stature (HP:0004322), Leber congenital amaurosis, no neurological defects (-HP:0000707)" "01y" "" "Leber congenital amaurosis" "" "" "" "" "" "RPSKA" "retinitis pigmentosa" "" "0000172202" "05409" "00228271" "02494" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000288759" "04214" "00395561" "00000" "Familial, autosomal recessive" "" "macular degeneration, optic atrophy, papilledema, rod-cone dystrophy, intellectual disability, macrocephaly, lumbar hyperlordosis, pectus excavatum, short neck, short stature, abnormality of the philtrum, nasal bridge and incisors, low posterior hairline, generalized hyperkeratosis, hirsutism, hyperpigmentation of the skin" "" "" "" "" "" "" "" "" "retinitis pigmentosa, skeletal and developmental abnormalities" "" "" "0000301340" "05409" "00409222" "00000" "Familial, autosomal recessive" "18y" "craniofacial defects ; neurological defects: speech delay; delay of walking (3y); brachydactyly; ocular manifestations: retinitis pigmentosa; growth: short stature; additional abnormalities: cafe-au-lait spots, hallux valgus both sides, flat feeet" "" "" "" "" "" "" "" "" "retinitis pigmentosa, with/without skeletal anomalies (RPSKA)" "" "" "0000301349" "05409" "00409232" "00000" "Familial, autosomal recessive" "20y" "craniofacial defects ; neurological defects: speech delay; delay of walking (3y); brachydactyly; ocular manifestations: retinitis pigmentosa; growth: short stature; additional abnormalities: cafe-au-lait spots" "" "" "" "" "" "" "" "" "retinitis pigmentosa, with/without skeletal anomalies (RPSKA)" "" "" "0000301350" "00198" "00409233" "00000" "Familial, autosomal recessive" "18y" "electroencephalogram, serum/urinary amino acid analysis, karyotyping, array CGH: normal results; brain magnetic resonance: ventricular system asymmetry, hypoplasia of the corpus callosum and minimum cerebellar atrophy; bilateral cataracts, retinal dystrophy, bilateral 10 dB hearing loss, hyperostosis frontalis interna, 11 pairs of ribs, osteopenia in hands, hypothyroidism (TSH: 13.8 [0.35-5.5mIU/l]; free T4: 1.26 [0.89-1.8 ng/dl]) hypergonadotropic hypogonadism (FSH: 69 IU/l, LH: 61 IU/l, and 17beta-estradiol: 22.4 pg/l); pelvic ultrasound: normal uterine structure, nonvisualized ovaries; spontaneous puberty was absent, pubertal induction with estrogen replacement therapy was required; 18y: divergent strabismus, malar telangiectasias, thinning of eyebrows, long philtrum, thin lips, hypoplastic teeth, dental agenesis, low weight (43.4 kg; -1.51 SDS; <3rd centile), short stature (139.7 cm; -3.64 SDS; <3rd centile), kyphoscoliosis, bilateral elbow, and left achilles contractures, lower limb dysmetria, clubbing of fingers, and ungueal dystrophy in feet; neurological traits: presents echolalia, inattention, hyperactivity, cheerful character, good social integration" "" "" "intellectual disability, delayed physical growth, skeletal defects, visual impairment" "" "" "" "" "" "unclassified / mixed" "" "" "0000336501" "00198" "00447302" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336798" "00198" "00447599" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000156155" "00155291" "1" "00006" "00006" "2018-03-21 18:25:23" "00006" "2018-03-21 18:34:46" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000156156" "00155292" "1" "00006" "00006" "2018-03-21 18:34:29" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000156157" "00155293" "1" "00006" "00006" "2018-03-21 18:40:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156159" "00155294" "1" "00006" "00006" "2018-03-21 18:47:10" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000156160" "00155296" "1" "00006" "00006" "2018-03-21 18:55:26" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000156161" "00155297" "1" "00006" "00006" "2018-03-21 19:02:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156163" "00155298" "1" "00006" "00006" "2018-03-21 19:09:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156164" "00155300" "1" "00006" "00006" "2018-03-21 19:16:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000229361" "00228271" "1" "02494" "02494" "2019-03-22 15:00:17" "" "" "SEQ" "DNA" "" "" "0000396799" "00395561" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "whole exome sequencing" "0000410487" "00409222" "1" "00000" "03840" "2022-05-05 16:02:33" "" "" "SEQ-NG;SEQ" "DNA" "" "whole-exome sequencing" "0000410496" "00409232" "1" "00000" "03840" "2022-05-05 18:57:47" "" "" "SEQ-NG;SEQ" "DNA" "" "whole-exome sequencing" "0000410497" "00409233" "1" "00000" "03840" "2022-05-05 19:37:00" "" "" "SEQ-NG;SEQ" "DNA" "" "whole-exome sequencing" "0000448879" "00447302" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449176" "00447599" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000156155" "CWC27" "0000156156" "CWC27" "0000156157" "CWC27" "0000156159" "CWC27" "0000156160" "CWC27" "0000156161" "CWC27" "0000156163" "CWC27" "0000156164" "CWC27" "0000229361" "CWC27" "0000396799" "CWC27" "0000410487" "CWC27" "0000410496" "CWC27" "0000410497" "CWC27" ## 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 = 46 "{{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}}" "0000274647" "0" "50" "5" "64100153" "64100153" "subst" "4.087E-6" "01943" "CWC27_000003" "g.64100153C>A" "" "" "" "CWC27(NM_001318000.1):c.878C>A (p.T293K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64804326C>A" "" "VUS" "" "0000330400" "0" "30" "5" "64081356" "64081356" "subst" "0" "01804" "CWC27_000001" "g.64081356A>G" "" "" "" "CWC27(NM_005869.2):c.445A>G (p.(Ile149Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64785529A>G" "" "likely benign" "" "0000330401" "0" "50" "5" "64097153" "64097156" "del" "0" "01804" "CWC27_000002" "g.64097153_64097156del" "" "" "" "CWC27(NM_005869.2):c.772_775del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64801326_64801329del" "" "VUS" "" "0000358057" "3" "90" "5" "64081406" "64081406" "subst" "0" "00006" "CWC27_000005" "g.64081406G>A" "" "{PMID:Xu 2017:28285769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.64785579G>A" "" "pathogenic" "" "0000358058" "3" "90" "5" "64081406" "64081406" "subst" "0" "00006" "CWC27_000005" "g.64081406G>A" "" "{PMID:Xu 2017:28285769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.64785579G>A" "" "pathogenic" "" "0000358059" "3" "90" "5" "64181333" "64181333" "dup" "0" "00006" "CWC27_000006" "g.64181333dup" "" "{PMID:Xu 2017:28285769}" "" "1002dupA" "" "Germline" "" "" "0" "" "" "g.64885506dup" "" "pathogenic" "" "0000358060" "3" "90" "5" "64082455" "64082455" "subst" "0" "00006" "CWC27_000007" "g.64082455G>A" "" "{PMID:Xu 2017:28285769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.64786628G>A" "" "pathogenic" "" "0000358061" "3" "90" "5" "64082455" "64082455" "subst" "0" "00006" "CWC27_000007" "g.64082455G>A" "" "{PMID:Xu 2017:28285769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.64786628G>A" "" "pathogenic" "" "0000358062" "21" "90" "5" "64064992" "64064992" "subst" "4.06207E-6" "00006" "CWC27_000008" "g.64064992C>T" "" "{PMID:Xu 2017:28285769}" "" "" "" "Germline" "?" "" "0" "" "" "g.64769165C>T" "" "pathogenic" "" "0000358063" "11" "90" "5" "64081338" "64081338" "subst" "0" "00006" "CWC27_000009" "g.64081338C>T" "" "{PMID:Xu 2017:28285769}" "" "" "" "Germline" "" "" "0" "" "" "g.64785511C>T" "" "pathogenic" "" "0000358064" "11" "90" "5" "64064992" "64064992" "subst" "4.06207E-6" "00006" "CWC27_000008" "g.64064992C>T" "" "{PMID:Xu 2017:28285769}" "" "" "" "Germline" "" "" "0" "" "" "g.64769165C>T" "" "pathogenic" "" "0000358066" "21" "90" "5" "64081338" "64081338" "subst" "0" "00006" "CWC27_000009" "g.64081338C>T" "" "{PMID:Xu 2017:28285769}" "" "" "" "Germline" "" "" "0" "" "" "g.64785511C>T" "" "pathogenic" "" "0000358067" "11" "90" "5" "64181333" "64181333" "dup" "0" "00006" "CWC27_000006" "g.64181333dup" "" "{PMID:Xu 2017:28285769}" "" "1002dupA" "" "Germline" "" "" "0" "" "" "g.64885506dup" "" "pathogenic" "" "0000358068" "21" "90" "5" "64084795" "64084795" "subst" "0" "00006" "CWC27_000010" "g.64084795C>A" "" "{PMID:Xu 2017:28285769}" "" "" "" "Germline" "" "" "0" "" "" "g.64788968C>A" "" "pathogenic" "" "0000470546" "3" "70" "5" "64079765" "64079765" "subst" "0" "02494" "CWC27_000011" "g.64079765C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.64783938C>T" "" "likely pathogenic" "" "0000525894" "0" "30" "5" "64081349" "64081349" "subst" "4.95879E-6" "02330" "CWC27_000012" "g.64081349A>G" "" "" "" "CWC27(NM_001297645.2):c.438A>G (p.E146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64785522A>G" "" "likely benign" "" "0000525895" "0" "30" "5" "64084814" "64084814" "subst" "0" "01943" "CWC27_000013" "g.64084814G>A" "" "" "" "CWC27(NM_001318000.1):c.636G>A (p.E212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64788987G>A" "" "likely benign" "" "0000525896" "0" "10" "5" "64084865" "64084872" "del" "0" "02330" "CWC27_000014" "g.64084865_64084872del" "" "" "" "CWC27(NM_001297645.2):c.669+18_669+25delCTTTGTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64789038_64789045del" "" "benign" "" "0000525897" "0" "30" "5" "64097126" "64097126" "subst" "0.00115631" "01804" "CWC27_000015" "g.64097126T>C" "" "" "" "CWC27(NM_001297645.2):c.750-3T>C, CWC27(NM_005869.2):c.750-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64801299T>C" "" "likely benign" "" "0000525898" "0" "10" "5" "64103425" "64103426" "dup" "0" "02330" "CWC27_000016" "g.64103425_64103426dup" "" "" "" "CWC27(NM_001297645.2):c.939-2_939-1insGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64807598_64807599dup" "" "benign" "" "0000525899" "0" "10" "5" "64103562" "64103562" "subst" "0" "02330" "CWC27_000017" "g.64103562C>T" "" "" "" "CWC27(NM_001297645.2):c.1075C>T (p.R359C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64807735C>T" "" "benign" "" "0000525900" "0" "10" "5" "64140796" "64140796" "subst" "0" "02330" "CWC27_000018" "g.64140796A>G" "" "" "" "CWC27(NM_005869.4):c.939-40474A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64844969A>G" "" "benign" "" "0000525901" "0" "30" "5" "64181326" "64181326" "subst" "0" "01804" "CWC27_000019" "g.64181326A>C" "" "" "" "CWC27(NM_005869.2):c.995A>C (p.(Gln332Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64885499A>C" "" "likely benign" "" "0000525902" "0" "30" "5" "64181348" "64181348" "subst" "0" "01943" "CWC27_000020" "g.64181348A>G" "" "" "" "CWC27(NM_005869.4):c.1017A>G (p.A339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64885521A>G" "" "likely benign" "" "0000525903" "0" "10" "5" "64181391" "64181391" "subst" "0.0013492" "02330" "CWC27_000021" "g.64181391G>A" "" "" "" "CWC27(NM_005869.4):c.1042+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64885564G>A" "" "benign" "" "0000609763" "0" "10" "5" "64097126" "64097126" "subst" "0.00115631" "02330" "CWC27_000015" "g.64097126T>C" "" "" "" "CWC27(NM_001297645.2):c.750-3T>C, CWC27(NM_005869.2):c.750-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64801299T>C" "" "benign" "" "0000609764" "0" "30" "5" "64103444" "64103444" "subst" "0" "02330" "CWC27_000022" "g.64103444G>A" "" "" "" "CWC27(NM_001297645.2):c.957G>A (p.L319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64807617G>A" "" "likely benign" "" "0000609765" "0" "30" "5" "64267534" "64267534" "subst" "8.25628E-5" "01943" "CWC27_000023" "g.64267534A>G" "" "" "" "CWC27(NM_005869.4):c.1047A>G (p.E349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64971707A>G" "" "likely benign" "" "0000655397" "0" "50" "5" "64097159" "64097159" "subst" "0" "01943" "CWC27_000024" "g.64097159T>C" "" "" "" "CWC27(NM_001318000.1):c.780T>C (p.D260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64801332T>C" "" "VUS" "" "0000655398" "0" "30" "5" "64314141" "64314141" "subst" "0.000147646" "01943" "CWC27_000025" "g.64314141G>A" "" "" "" "CWC27(NM_005869.4):c.1412G>A (p.R471K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65018314G>A" "" "likely benign" "" "0000720471" "0" "90" "5" "64103554" "64103554" "subst" "0" "01943" "CWC27_000026" "g.64103554T>A" "" "" "" "CWC27(NM_001297645.1):c.1067T>A (p.L356*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720472" "0" "50" "5" "64273052" "64273052" "subst" "0" "01943" "CWC27_000027" "g.64273052G>T" "" "" "" "CWC27(NM_005869.4):c.1243G>T (p.D415Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802152" "0" "30" "5" "64084857" "64084857" "subst" "5.48829E-5" "01943" "CWC27_000028" "g.64084857A>G" "" "" "" "CWC27(NM_001318000.1):c.669+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802153" "0" "30" "5" "64267555" "64267555" "subst" "2.48063E-5" "01943" "CWC27_000029" "g.64267555T>C" "" "" "" "CWC27(NM_005869.4):c.1068T>C (p.A356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000828477" "3" "90" "5" "64081406" "64081406" "subst" "0" "00000" "CWC27_000005" "g.64081406G>A" "" "{PMID:Perea-Romero 2021:34448047}" "" "CWC27, c.495G>A, p.Glu165=, homozygous" "" "Germline" "yes" "" "0" "" "" "g.64785579G>A" "" "pathogenic" "ACMG" "0000847785" "3" "70" "5" "64181274" "64181274" "subst" "0" "00000" "CWC27_000004" "g.64181274G>T" "" "{PMID:Xu 2017:28285769}" "" "CWC27 c.943G>T , p.Glu315*" "homozygous" "Germline" "yes" "" "0" "" "" "g.64885447G>T" "" "likely pathogenic" "" "0000847802" "3" "70" "5" "64181274" "64181274" "subst" "0" "00000" "CWC27_000004" "g.64181274G>T" "" "{PMID:Xu 2017:28285769}" "" "" "homozygous" "Germline" "yes" "" "0" "" "" "g.64885447G>T" "" "likely pathogenic" "" "0000847803" "3" "70" "5" "64079765" "64079765" "subst" "0" "00000" "CWC27_000011" "g.64079765C>T" "" "{PMID:Brea-Fernandez 2019:31481716}" "" "CWC27 c.355C>T p.(Arg119*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.64783938C>T" "" "likely pathogenic" "" "0000886898" "0" "30" "5" "64272945" "64272945" "subst" "0.00137158" "02330" "CWC27_000030" "g.64272945T>C" "" "" "" "CWC27(NM_005869.4):c.1153-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924364" "0" "70" "5" "64181325" "64181325" "subst" "0" "02327" "CWC27_000031" "g.64181325C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000958365" "0" "90" "5" "64084844" "64084847" "del" "0" "00006" "CWC27_000033" "g.64084844_64084847del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.64789017_64789020del" "" "pathogenic (recessive)" "ACMG" "0000958650" "21" "70" "5" "63985369" "64118651" "delins" "0" "00006" "CWC27_000032" "g.63985369_64118651delins[CTGG;63985092_63985116;GGTCATG;63985099_63985162]" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000959383" "0" "50" "5" "64314146" "64314146" "subst" "4.51259E-6" "00006" "CWC27_000034" "g.64314146T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM4" "Germline" "" "" "0" "" "" "g.65018319T>C" "" "VUS" "ACMG" "0000976828" "0" "30" "5" "64189788" "64189788" "subst" "0" "01804" "CWC27_000035" "g.64189788G>A" "" "" "" "CWC27(NM_001364478.1):c.1053G>A (p.(Ser351=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035277" "0" "50" "5" "64070575" "64070575" "subst" "0" "01804" "CWC27_000036" "g.64070575C>A" "" "" "" "CWC27(NM_005869.4):c.100C>A (p.(Pro34Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035278" "0" "30" "5" "64181378" "64181378" "subst" "2.90709E-5" "01804" "CWC27_000037" "g.64181378G>A" "" "" "" "CWC27(NM_005869.4):c.1042+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CWC27 ## Count = 46 "{{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}}" "0000274647" "00005908" "50" "878" "0" "878" "0" "c.878C>A" "r.(?)" "p.(Thr293Lys)" "" "0000330400" "00005908" "30" "445" "0" "445" "0" "c.445A>G" "r.(?)" "p.(Ile149Val)" "" "0000330401" "00005908" "50" "774" "0" "777" "0" "c.774_777del" "r.(?)" "p.(Val259MetfsTer21)" "" "0000358057" "00005908" "90" "495" "0" "495" "0" "c.495G>A" "r.495_496ins495+1_496-1" "p.Val166_Leu167insGlyAla*" "5" "0000358058" "00005908" "90" "495" "0" "495" "0" "c.495G>A" "r.495_496ins495+1_496-1" "p.Val166_Leu167insGlyAla*" "5" "0000358059" "00005908" "90" "1002" "0" "1002" "0" "c.1002dup" "r.(?)" "p.(Val335Serfs*13)" "11" "0000358060" "00005908" "90" "599" "1" "599" "1" "c.599+1G>A" "r.[571_599del, 496_599del]" "p.?" "6i" "0000358061" "00005908" "90" "599" "1" "599" "1" "c.599+1G>A" "r.[571_599del, 496_599del]" "p.?" "6i" "0000358062" "00005908" "90" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Gln7*)" "1" "0000358063" "00005908" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143*)" "5" "0000358064" "00005908" "90" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Gln7*)" "1" "0000358066" "00005908" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143*)" "5" "0000358067" "00005908" "90" "1002" "0" "1002" "0" "c.1002dup" "r.(?)" "p.(Val335Serfs*13)" "11" "0000358068" "00005908" "90" "617" "0" "617" "0" "c.617C>A" "r.(?)" "p.(Ser206*)" "7" "0000470546" "00005908" "70" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119*)" "" "0000525894" "00005908" "30" "438" "0" "438" "0" "c.438A>G" "r.(?)" "p.(Glu146=)" "" "0000525895" "00005908" "30" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(Glu212=)" "" "0000525896" "00005908" "10" "669" "18" "669" "25" "c.669+18_669+25del" "r.(=)" "p.(=)" "" "0000525897" "00005908" "30" "750" "-3" "750" "-3" "c.750-3T>C" "r.spl?" "p.?" "" "0000525898" "00005908" "10" "938" "3212" "938" "3213" "c.938+3212_938+3213dup" "r.(=)" "p.(=)" "" "0000525899" "00005908" "10" "938" "3349" "938" "3349" "c.938+3349C>T" "r.(=)" "p.(=)" "" "0000525900" "00005908" "10" "939" "-40474" "939" "-40474" "c.939-40474A>G" "r.(=)" "p.(=)" "" "0000525901" "00005908" "30" "995" "0" "995" "0" "c.995A>C" "r.(?)" "p.(Gln332Pro)" "" "0000525902" "00005908" "30" "1017" "0" "1017" "0" "c.1017A>G" "r.(?)" "p.(Ala339=)" "" "0000525903" "00005908" "10" "1042" "18" "1042" "18" "c.1042+18G>A" "r.(=)" "p.(=)" "" "0000609763" "00005908" "10" "750" "-3" "750" "-3" "c.750-3T>C" "r.spl?" "p.?" "" "0000609764" "00005908" "30" "938" "3231" "938" "3231" "c.938+3231G>A" "r.(=)" "p.(=)" "" "0000609765" "00005908" "30" "1047" "0" "1047" "0" "c.1047A>G" "r.(?)" "p.(Glu349=)" "" "0000655397" "00005908" "50" "780" "0" "780" "0" "c.780T>C" "r.(?)" "p.(Asp260=)" "" "0000655398" "00005908" "30" "1412" "0" "1412" "0" "c.1412G>A" "r.(?)" "p.(Arg471Lys)" "" "0000720471" "00005908" "90" "938" "3341" "938" "3341" "c.938+3341T>A" "r.(=)" "p.(=)" "" "0000720472" "00005908" "50" "1243" "0" "1243" "0" "c.1243G>T" "r.(?)" "p.(Asp415Tyr)" "" "0000802152" "00005908" "30" "669" "10" "669" "10" "c.669+10A>G" "r.(=)" "p.(=)" "" "0000802153" "00005908" "30" "1068" "0" "1068" "0" "c.1068T>C" "r.(?)" "p.(Ala356=)" "" "0000828477" "00005908" "90" "495" "0" "495" "0" "c.495G>A" "r.(?)" "p.(Glu165=)" "" "0000847785" "00005908" "70" "943" "0" "943" "0" "c.943G>T" "r.(?)" "p.(Glu315*)" "" "0000847802" "00005908" "70" "943" "0" "943" "0" "c.943G>T" "r.(?)" "p.(Glu315*)" "" "0000847803" "00005908" "70" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119*)" "" "0000886898" "00005908" "30" "1153" "-17" "1153" "-17" "c.1153-17T>C" "r.(=)" "p.(=)" "" "0000924364" "00005908" "70" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Gln332*)" "" "0000958365" "00005908" "90" "666" "0" "669" "0" "c.666_669del" "r.(?)" "p.(Ser222ArgfsTer3)" "" "0000958650" "00005908" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000959383" "00005908" "50" "1417" "0" "1417" "0" "c.1417T>C" "r.(?)" "p.(Ter473GlnextTer31)" "" "0000976828" "00005908" "30" "1042" "8415" "1042" "8415" "c.1042+8415G>A" "r.(=)" "p.(=)" "" "0001035277" "00005908" "50" "100" "0" "100" "0" "c.100C>A" "r.(?)" "p.(Pro34Thr)" "" "0001035278" "00005908" "30" "1042" "5" "1042" "5" "c.1042+5G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000156155" "0000358057" "0000156156" "0000358058" "0000156157" "0000358059" "0000156159" "0000358060" "0000156160" "0000358061" "0000156161" "0000358062" "0000156161" "0000358063" "0000156163" "0000358064" "0000156163" "0000358066" "0000156164" "0000358067" "0000156164" "0000358068" "0000229361" "0000470546" "0000396799" "0000828477" "0000410487" "0000847785" "0000410496" "0000847802" "0000410497" "0000847803" "0000448879" "0000958365" "0000448879" "0000958650" "0000449176" "0000959383"