### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPS6KC1) # 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}}" "RPS6KC1" "ribosomal protein S6 kinase, 52kDa, polypeptide 1" "1" "q41" "unknown" "NC_000001.10" "UD_132319248520" "" "https://www.LOVD.nl/RPS6KC1" "" "1" "10439" "26750" "617517" "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" "2025-10-29 18:57:39" "00006" "2025-10-30 10:28:48" ## 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}}" "00018181" "RPS6KC1" "transcript variant 1" "001" "NM_012424.3" "" "NP_036556.2" "" "" "" "-159" "4032" "3201" "213224588" "213446808" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RPS6KC1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00467763" "" "" "" "1" "" "00006" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Italy" "" "0" "" "" "" "Fam1PatII1" "00467764" "" "" "" "5" "" "00006" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "2-generation family, 5 affected (4F, M) and three stillborns, unaffected heterozygous carrier parents" "M" "" "Finland" "" "0" "" "" "" "Fam2PatII1" "00467765" "" "" "00467764" "1" "" "00006" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "sister" "F" "" "Finland" "" "0" "" "" "" "Fam2PatII5" "00467766" "" "" "00467764" "1" "" "00006" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "sister" "F" "" "Finland" "" "0" "" "" "" "Fam2PatII6" "00467767" "" "" "00467764" "1" "" "00006" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "sister" "F" "" "Finland" "" "0" "" "" "" "Fam2PatII11" "00467768" "" "" "" "3" "" "00006" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "2-generation family, 3 affected sisters (+ three miscarriages), unaffected heterozygous carrier parents" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Iran" "Fam3PatII6" "00467769" "" "" "" "1" "" "00006" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Spain" "" "0" "" "" "" "Fam4PatII1" "00467770" "" "" "" "1" "" "00006" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "2-generation family, 1 affected fetus (several failed in vitro fertilizations), unaffected heterozygous carrier parents" "F" "no" "Estonia" "<0d" "0" "" "" "" "Fam5PatII3" "00467771" "" "" "" "1" "" "00006" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam6PatII1" "00467772" "" "" "" "3" "" "00006" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "Asia" "Fam7PatII2" "00467773" "" "" "00467772" "1" "" "00006" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "sister" "F" "no" "" "" "0" "" "" "Asia" "Fam7PatII3" "00467774" "" "" "" "2" "" "00006" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Iran" "" "0" "" "" "" "Fam8PatII2" "00467775" "" "" "00467774" "1" "" "00006" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "sister" "F" "yes" "Iran" "" "0" "" "" "" "Fam8PatII3" "00467797" "" "" "" "1" "" "00006" "{PMID:Charng 2016:27435318}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam025PatBAB6797" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00467763" "05611" "00467764" "05611" "00467765" "05611" "00467766" "05611" "00467767" "05611" "00467768" "05611" "00467769" "05611" "00467770" "05611" "00467771" "05611" "00467772" "05611" "00467773" "05611" "00467774" "05611" "00467775" "05611" "00467797" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 14 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000352916" "05611" "00467763" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., mild development delay; 16m-walk; no regression; neonatal hypotonia; no motor signs; no epilepsy; no dysmorphism; mild intellectual disability; repetitive behavior, occasionally aggressive; MRI brain 10y2m WM volume loss, thin corpus callosum, enlarged cisterna magna" "1d" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352917" "05611" "00467764" "00006" "Familial, autosomal recessive" "57y" "see paper; ..., mild development delay; 18m-walk; no regression; no neonatal hypotonia; spastic paraplegia; epilepsy; dysmorphism (long face, long philtrum, thin upper lip, prominent forehead, hypotelorism, single median maxillary incisor); moderate intellectual disability; autistic traits, depressive disorder; strabismus (operated), scoliosis" "1d" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352918" "05611" "00467765" "00006" "Familial, autosomal recessive" "52y" "see paper; ..., mild development delay; 16m-walk; no regression; neonatal hypotonia; spastic paraplegia; no epilepsy; dysmorphism (long face, long philtrum, thin upper lip, hypotelorism, prominent maxillary incisor, convergent strabismus, anteverted nares, low-set, posteriorly rotated ears); moderate intellectual disability; normal behavior; 40y-cognitive decline" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352919" "05611" "00467766" "00006" "Familial, autosomal recessive" "50y" "see paper; ..., mild development delay; 18m-walk; no regression; neonatal hypotonia; no motor signs; no epilepsy; dysmorphism (long face, long philtrum, thin upper lip, prominent forehead, retrognathia, hypotelorism, prominent maxillary incisor, low-set, posteriorly rotated ears); moderate intellectual disability; anxiety disorder, attention-defi- cient hyperactive disorder; normal CT scan" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352920" "05611" "00467767" "00006" "Familial, autosomal recessive" "42y" "see paper; ..., mild development delay; 14m-walk; no regression; neonatal hypotonia; no motor signs; epilepsy; dysmorphism (long face, hypotelorism, prominent maxillary incisor, convergent strabismus, anteverted nares, low-set, posteriorly rotated ears); moderate intellectual disability; normal behavior; strabismus; normal CT scan" "1d" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352921" "05611" "00467768" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., no development delay; 13m-walk; no regression; no neonatal hypotonia; hyperreflexia; epilepsy; dysmorphism (prominent nose, deep-set eyes); no intellectual disability; anxiety disorder; tremor, mitral valve prolapse; MRI brain 6y-mild WM volume loss, thin corpus callosum, brainstem hypoplasia" "4y" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352922" "05611" "00467769" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., mild development delay; 18m-walk; no regression; neonatal hypotonia; spastic tetraplegia; isolated seizure; dysmorphism (long face, prominent forehead, retrognathia, sthenic body habitus, scoliosis, lumbar hyperlordosis, pes cavus); mild intellectual disability; autistic traits, winging movements; peripheral axonal neuropathy, scoliosis; MRI brain 15y-posterior WM volume loss with colpocephaly, corpus callosum hypoplasia of body and splenium, cerebellar vermis hypoplasia" "12y" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352923" "05611" "00467770" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..., 19wg-termination pregnancy; dysmorphism (extensive fetal hydrops, short neck, broad neck, downslanted palpebral fissures, low-set ears; prominent clitoris); extensive fetal hydrops" "<0d" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352924" "05611" "00467771" "00006" "Familial, autosomal recessive" "40y" "see paper; ..., moderate development delay; 12m-walk; no regression; no neonatal hypotonia; mild distal weakness, hyperreflexia; isolated seizure; dysmorphism (prominent forehead, downslanted palpebral fissures, bilateral ptosis, high-arched palate, retrognathia, low-set, posteriorly rotated ears); moderate intellectual disability; shyness, asociality; tremor, ataxic gait, ocular apraxia; MRI brain 40y-WM volume loss, thin corpus callosum, mild cerebellar vermis atrophy" "2y" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352925" "05611" "00467772" "00006" "Familial, autosomal recessive" "31y" "see paper; ..., moderate development delay; independent walking; 7y-regression; no neonatal hypotonia; spastic paraplegia, muscle weakness, hyperreflexia; occasional seizures; dysmorphism; moderate intellectual disability; aggressive behavior; tremor, ataxic gait, dystonia, myoclonus" "3.5y" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352926" "05611" "00467773" "00006" "Familial, autosomal recessive" "32y" "see paper; ..., moderate development delay; independent walking; 8y-regression; no neonatal hypotonia; muscle weakness, hyperreflexia; occasional seizures; dysmorphism; moderate intellectual disability; aggressive behavior; tremor, slight gait abnormality" "3y" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352927" "05611" "00467774" "00006" "Familial, autosomal recessive" "35y" "see paper; ..., moderate development delay; independent walking; no regression; no neonatal hypotonia; spastic paraplegia, muscle weakness, hyperreflexia; no epilepsy; no dysmorphism; moderate intellectual disability; normal behavior; scoliosis; convergent strabismus" "2y" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352928" "05611" "00467775" "00006" "Familial, autosomal recessive" "27y" "see paper; ..., moderate development delay; independent walking; no regression; no neonatal hypotonia; spastic paraplegia, muscle weakness, hyperreflexia; no epilepsy; no dysmorphism; moderate intellectual disability; normal behavior; scoliosis; convergent strabismus" "2y" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352950" "05611" "00467797" "00006" "Familial, autosomal recessive" "" "developmental delay, white matter volume loss, thin corpus callosum, periventricular leukomalacia, delayed myelination, axial hypotonia" "" "" "" "" "" "" "" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000469429" "00467763" "1" "00006" "00006" "2025-10-29 21:40:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469430" "00467764" "1" "00006" "00006" "2025-10-29 21:40:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469431" "00467765" "1" "00006" "00006" "2025-10-29 21:40:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469432" "00467766" "1" "00006" "00006" "2025-10-29 21:40:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469433" "00467767" "1" "00006" "00006" "2025-10-29 21:40:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469434" "00467768" "1" "00006" "00006" "2025-10-29 21:40:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469435" "00467769" "1" "00006" "00006" "2025-10-29 21:40:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469436" "00467770" "1" "00006" "00006" "2025-10-29 21:40:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469437" "00467771" "1" "00006" "00006" "2025-10-29 21:40:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469438" "00467772" "1" "00006" "00006" "2025-10-29 21:40:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469439" "00467773" "1" "00006" "00006" "2025-10-29 21:40:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469440" "00467774" "1" "00006" "00006" "2025-10-29 21:40:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469441" "00467775" "1" "00006" "00006" "2025-10-29 21:40:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469463" "00467797" "1" "00006" "00006" "2025-10-30 10:25:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 19 "{{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}}" "0000307376" "0" "10" "1" "213349747" "213349747" "subst" "0.0112229" "01943" "RPS6KC1_000001" "g.213349747C>T" "" "" "" "RPS6KC1(NM_012424.6):c.956C>T (p.P319L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.213176404C>T" "" "benign" "" "0000990812" "0" "30" "1" "213415977" "213415977" "subst" "1.22434E-5" "01804" "RPS6KC1_000003" "g.213415977A>G" "" "" "" "RPS6KC1(NM_012424.3):c.2887A>G (p.(Ile963Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049725" "3" "90" "1" "213415122" "213415123" "del" "0" "00006" "RPS6KC1_000010" "g.213415122_213415123del" "" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "" "" "" "Germline" "" "" "0" "" "" "g.213241779_213241780del" "" "pathogenic (recessive)" "" "0001049726" "3" "90" "1" "213415602" "213415602" "subst" "6.11501E-5" "00006" "RPS6KC1_000012" "g.213415602G>C" "" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "" "" "" "Germline" "" "" "0" "" "" "g.213242259G>C" "" "pathogenic (recessive)" "" "0001049727" "3" "90" "1" "213415602" "213415602" "subst" "6.11501E-5" "00006" "RPS6KC1_000012" "g.213415602G>C" "" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "" "" "" "Germline" "" "" "0" "" "" "g.213242259G>C" "" "pathogenic (recessive)" "" "0001049728" "3" "90" "1" "213415602" "213415602" "subst" "6.11501E-5" "00006" "RPS6KC1_000012" "g.213415602G>C" "" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "" "" "" "Germline" "" "" "0" "" "" "g.213242259G>C" "" "pathogenic (recessive)" "" "0001049729" "3" "90" "1" "213415602" "213415602" "subst" "6.11501E-5" "00006" "RPS6KC1_000012" "g.213415602G>C" "" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "" "" "" "Germline" "" "" "0" "" "" "g.213242259G>C" "" "pathogenic (recessive)" "" "0001049730" "3" "90" "1" "213414369" "213414369" "subst" "1.22753E-5" "00006" "RPS6KC1_000008" "g.213414369A>T" "" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "" "" "" "Germline" "" "" "0" "" "" "g.213241026A>T" "" "pathogenic (recessive)" "" "0001049731" "21" "90" "1" "213341260" "213341260" "del" "4.06273E-6" "00006" "RPS6KC1_000007" "g.213341260del" "" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "" "895delC" "" "Germline" "" "" "0" "" "" "g.213167917del" "" "pathogenic (recessive)" "" "0001049732" "11" "90" "1" "213290695" "213290695" "subst" "1.22216E-5" "00006" "RPS6KC1_000005" "g.213290695C>T" "" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "" "" "" "Germline" "" "" "0" "" "" "g.213117353C>T" "" "pathogenic (recessive)" "" "0001049733" "3" "90" "1" "213415995" "213415995" "subst" "0" "00006" "RPS6KC1_000013" "g.213415995G>A" "" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "" "" "" "Germline" "" "" "0" "" "" "g.213242652G>A" "" "pathogenic (recessive)" "" "0001049734" "3" "90" "1" "213415999" "213415999" "del" "0" "00006" "RPS6KC1_000014" "g.213415999del" "" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "" "" "" "Germline" "" "" "0" "" "" "g.213242656del" "" "pathogenic (recessive)" "" "0001049735" "3" "90" "1" "213415999" "213415999" "del" "0" "00006" "RPS6KC1_000014" "g.213415999del" "" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "" "" "" "Germline" "" "" "0" "" "" "g.213242656del" "" "pathogenic (recessive)" "" "0001049736" "3" "90" "1" "213434939" "213434939" "del" "0" "00006" "RPS6KC1_000015" "g.213434939del" "" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "" "" "" "Germline" "" "" "0" "" "" "g.213261596del" "" "pathogenic (recessive)" "" "0001049737" "3" "90" "1" "213434939" "213434939" "del" "0" "00006" "RPS6KC1_000015" "g.213434939del" "" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "" "" "" "Germline" "" "" "0" "" "" "g.213261596del" "" "pathogenic (recessive)" "" "0001049738" "11" "90" "1" "213414370" "213414382" "del" "0" "00006" "RPS6KC1_000009" "g.213414370_213414382del" "" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "" "1551_1563dedelGCAATGAATATGG" "" "Germline" "" "" "0" "" "" "g.213241027_213241039del" "" "pathogenic (recessive)" "" "0001049739" "21" "90" "1" "213303135" "213303135" "subst" "8.14883E-6" "00006" "RPS6KC1_000006" "g.213303135A>C" "" "{PMID:Planas-Serra 2025:41130203}, {DOI:Planas-Serra 2025:10.1016/j.ajhg.2025.09.015}" "" "" "" "Germline" "" "" "0" "" "" "g.213129792A>C" "" "pathogenic (recessive)" "" "0001049761" "21" "50" "1" "213415529" "213415529" "subst" "2.4427E-5" "00006" "RPS6KC1_000011" "g.213415529G>A" "" "{PMID:Charng 2016:27435318}" "" "" "ACMG PM2; candidate disease gene" "Germline" "" "" "0" "" "" "g.213242186G>A" "" "VUS" "" "0001049779" "11" "50" "1" "213396379" "213592823" "del" "0" "00006" "RPS6KC1_000004" "g.213396379_213592823del" "" "{PMID:Charng 2016:27435318}" "" "hg19 chr1:g.213396378_213592823del" "candidate disease gene" "Germline" "" "" "0" "" "" "g.213223036_213419480del" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RPS6KC1 ## Count = 19 "{{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}}" "0000307376" "00018181" "10" "956" "0" "956" "0" "c.956C>T" "r.(?)" "p.(Pro319Leu)" "" "0000990812" "00018181" "30" "2887" "0" "2887" "0" "c.2887A>G" "r.(?)" "p.(Ile963Val)" "" "0001049725" "00018181" "90" "2303" "0" "2304" "0" "c.2303_2304del" "r.(?)" "p.(Tyr768CysfsTer14)" "" "0001049726" "00018181" "90" "2783" "0" "2783" "0" "c.2783G>C" "r.(?)" ":p.(Arg928Pro)" "" "0001049727" "00018181" "90" "2783" "0" "2783" "0" "c.2783G>C" "r.(?)" ":p.(Arg928Pro)" "" "0001049728" "00018181" "90" "2783" "0" "2783" "0" "c.2783G>C" "r.(?)" ":p.(Arg928Pro)" "" "0001049729" "00018181" "90" "2783" "0" "2783" "0" "c.2783G>C" "r.(?)" ":p.(Arg928Pro)" "" "0001049730" "00018181" "90" "1550" "0" "1550" "0" "c.1550A>T" "r.(?)" "p.(Asn517Ile)" "" "0001049731" "00018181" "90" "895" "0" "895" "0" "c.895del" "r.(?)" "p.(Arg299GlyfsTer24)" "" "0001049732" "00018181" "90" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Pro139Ser)" "" "0001049733" "00018181" "90" "2905" "0" "2905" "0" "c.2905G>A" "r.(?)" "p.(Ala969Thr)" "" "0001049734" "00018181" "90" "2909" "0" "2909" "0" "c.2909del" "r.(?)" "p.(Pro970GlnfsTer39)" "" "0001049735" "00018181" "90" "2909" "0" "2909" "0" "c.2909del" "r.(?)" "p.(Pro970GlnfsTer39)" "" "0001049736" "00018181" "90" "2950" "0" "2950" "0" "c.2950del" "r.(?)" "p.(Trp984GlyfsTer25)" "" "0001049737" "00018181" "90" "2950" "0" "2950" "0" "c.2950del" "r.(?)" "p.(Trp984GlyfsTer25)" "" "0001049738" "00018181" "90" "1551" "0" "1563" "0" "c.1551_1563del" "r.(?)" "p.(Asn517LysfsTer9)" "" "0001049739" "00018181" "90" "738" "0" "738" "0" "c.738A>C" "r.(?)" "p.(Leu246Phe)" "" "0001049761" "00018181" "50" "2074" "0" "2074" "0" "c.2074G>A" "r.(?)" "p.(Gly692Ser)" "" "0001049779" "00018181" "50" "1045" "-7461" "150047" "0" "c.1045-7461_*146846del" "r.?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000469429" "0001049725" "0000469430" "0001049726" "0000469431" "0001049727" "0000469432" "0001049728" "0000469433" "0001049729" "0000469434" "0001049730" "0000469435" "0001049731" "0000469435" "0001049738" "0000469436" "0001049732" "0000469436" "0001049739" "0000469437" "0001049733" "0000469438" "0001049734" "0000469439" "0001049735" "0000469440" "0001049736" "0000469441" "0001049737" "0000469463" "0001049761" "0000469463" "0001049779"