### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRKCI) # 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}}" "PRKCI" "protein kinase C, iota" "3" "q26.3" "unknown" "NC_000003.11" "UD_136022346085" "" "https://www.LOVD.nl/PRKCI" "" "1" "9404" "5584" "600539" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PRKCI_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-10-12 18:43:52" "00006" "2025-10-13 12:04:49" ## 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}}" "00016841" "PRKCI" "protein kinase C, iota" "001" "NM_002740.5" "" "NP_002731.4" "" "" "" "-238" "4646" "1791" "169940220" "170023770" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "07192" "VWS" "Van der Woude syndrome" "" "" "" "" "" "00006" "2025-10-12 18:43:11" "00006" "2025-10-12 18:43:37" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PRKCI" "07192" ## Individuals ## Do not remove or alter this header ## ## Count = 73 "{{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}}" "00467388" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat1" "00467389" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat2" "00467390" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat3" "00467391" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat4" "00467392" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat5" "00467393" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat6" "00467394" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat7" "00467395" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat8" "00467396" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected carrier parent" "" "" "" "" "0" "" "" "" "S3-Pat9" "00467397" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat10" "00467398" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat11" "00467399" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected carrier parent" "" "" "" "" "0" "" "" "" "S3-Pat12" "00467400" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat13" "00467401" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat14" "00467402" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat15" "00467403" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected carrier parent" "" "" "" "" "0" "" "" "" "S3-Pat16" "00467404" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "S3-Pat17" "00467405" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat18" "00467406" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat19" "00467407" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "control" "" "" "" "" "0" "" "" "" "S3-Pat20" "00467408" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat21" "00467409" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat22" "00467410" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected carrier parent" "" "" "" "" "0" "" "" "" "S3-Pat23" "00467411" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat24" "00467412" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat25" "00467413" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat26" "00467414" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat27" "00467415" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "S3-Pat28" "00467416" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat29" "00467417" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat30" "00467418" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat31" "00467419" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat32" "00467420" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat33" "00467421" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat34" "00467422" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat35" "00467423" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat36" "00467424" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat37" "00467425" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat38" "00467426" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat39" "00467427" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat40" "00467428" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected carrier parent" "" "" "" "" "0" "" "" "" "S3-Pat41" "00467429" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat42" "00467430" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat43" "00467431" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat44" "00467432" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected carrier parent" "" "" "" "" "0" "" "" "" "S3-Pat45" "00467433" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat46" "00467434" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat47" "00467435" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected carrier parent" "" "" "" "" "0" "" "" "" "S3-Pat48" "00467436" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat49" "00467437" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat50" "00467438" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat51" "00467439" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat52" "00467440" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "S3-Pat53" "00467441" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "S3-Pat54" "00467442" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "S3-Pat55" "00467443" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "S3-Pat56" "00467444" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "S3-Pat57" "00467445" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "S3-Pat58" "00467446" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected carrier parent" "" "" "" "" "0" "" "" "" "S3-Pat59" "00467447" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected carrier parent" "" "" "" "" "0" "" "" "" "S3-Pat60" "00467448" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat61" "00467449" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected carrier parent" "" "" "" "" "0" "" "" "" "S3-Pat62" "00467450" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected carrier parent" "" "" "" "" "0" "" "" "" "S3-Pat63" "00467451" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat64" "00467452" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat65" "00467453" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat66" "00467454" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat67" "00467455" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected carrier parent" "" "" "" "" "0" "" "" "" "S3-Pat68" "00467456" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected carrier parent" "" "" "" "" "0" "" "" "" "S3-Pat69" "00467457" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat70" "00467458" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat71" "00467459" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "2-generation family, 1 affected, unaffected carrier parent" "" "" "" "" "0" "" "" "" "S3-Pat72" "00467460" "" "" "" "1" "" "00006" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "" "" "0" "" "" "" "S3-Pat73" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 73 "{{individualid}}" "{{diseaseid}}" "00467388" "00198" "00467389" "00198" "00467390" "00198" "00467391" "00198" "00467392" "00198" "00467393" "00198" "00467394" "00198" "00467395" "00198" "00467396" "00198" "00467397" "00198" "00467398" "00198" "00467399" "00198" "00467400" "00198" "00467401" "00198" "00467402" "00198" "00467403" "00198" "00467404" "00198" "00467405" "00198" "00467406" "00198" "00467407" "00000" "00467408" "00198" "00467409" "00198" "00467410" "00198" "00467411" "00198" "00467412" "00198" "00467413" "00198" "00467414" "00198" "00467415" "00198" "00467416" "00198" "00467417" "00198" "00467418" "00198" "00467419" "00198" "00467420" "00198" "00467421" "00198" "00467422" "00198" "00467423" "00198" "00467424" "00198" "00467425" "00198" "00467426" "00198" "00467427" "00198" "00467428" "00198" "00467429" "00198" "00467430" "00198" "00467431" "00198" "00467432" "00198" "00467433" "00198" "00467434" "00198" "00467435" "00198" "00467436" "00198" "00467437" "00198" "00467438" "00198" "00467439" "00198" "00467440" "00198" "00467441" "00198" "00467442" "00198" "00467443" "00198" "00467444" "00198" "00467445" "00198" "00467446" "00198" "00467447" "00198" "00467448" "00198" "00467449" "00198" "00467450" "00198" "00467451" "00198" "00467452" "00198" "00467453" "00198" "00467454" "00198" "00467455" "00198" "00467456" "00198" "00467457" "00198" "00467458" "00198" "00467459" "00198" "00467460" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 07192 ## Count = 73 "{{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}}" "0000352595" "00198" "00467388" "00006" "Unknown" "" "autistic behavior, delayed speech and language development, increased body weight, constipation" "" "" "" "" "" "" "" "" "" "" "" "0000352596" "00198" "00467389" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352597" "00198" "00467390" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352598" "00198" "00467391" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352599" "00198" "00467392" "00006" "Unknown" "" "hypoplastic left heart syndrome, dysmorphic features, short stature and failure to thrive; MRI brain foci of restricted diffusion primarily in white matter in pattern of partial hypoxia, possibly associated venous thrombosis and central white matter loss; family history ipositive for tmother with moderate intellectual disability and developmental delay, and the maternal grandmother with learning disability and possibly mild intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "0000352600" "00198" "00467393" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352601" "00198" "00467394" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352602" "00198" "00467395" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352603" "00198" "00467396" "00006" "Unknown" "" "autism, speech delay, elbow hyperextension" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352604" "00198" "00467397" "00006" "Unknown" "" "ciliary dyskinesia" "" "" "" "" "" "" "" "" "" "" "" "0000352605" "00198" "00467398" "00006" "Unknown" "" "ketotic hypoglycemia, severe ketosis and lactic acidosis, headaches, intermittent periods of lethargy, diaphoresis, abdominal pain and cramps, emesis with increased diuresis, and mild hepatomegally. Results of a glucagon challenge test completed at an outside laboratory were abnormal suggesting glycogen storage disease; family history indicates father has dyslipidemia, and a full brother has food allergies." "" "" "" "" "" "" "" "" "" "" "" "0000352606" "00198" "00467399" "00006" "Unknown" "" "left cleft lip and palate" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352607" "00198" "00467400" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352608" "00198" "00467401" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352609" "00198" "00467402" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352610" "00198" "00467403" "00006" "Unknown" "" "bilateral cleft lip and palate" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352611" "00198" "00467404" "00006" "Isolated (sporadic)" "" "cleft soft palate" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352612" "00198" "00467405" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352613" "00198" "00467406" "00006" "Unknown" "" "craniosynostosis, hypertelorism, abnormal cerebellum morphology, and abnormal facial shape. Family history is significant for consanguineous parents." "" "" "" "" "" "" "" "" "" "" "" "0000352614" "00000" "00467407" "00006" "Unknown" "" "no specific phenotype" "" "" "" "" "" "" "" "" "" "control" "" "0000352615" "00198" "00467408" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352616" "00198" "00467409" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352617" "00198" "00467410" "00006" "Unknown" "" "abnormal ultrasound findings which include growth delay, intrauterine growth retardation, oral cleft, and ventricular septal defect; family history significant for consanguinity and two prior pregnancies with IUGR" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352618" "00198" "00467411" "00006" "Unknown" "" "speech delay, failure to thrive, short stature, delayed bone age, bicuspid aortic valve, slightly down- slanting palpebral fissures, and 3 cafe-au-lait spots on the skin; previous workup including chromosome microarray analysis, metabolic testing, Noonan syndrome testing were unrevealing." "" "" "" "" "" "" "" "" "" "" "" "0000352619" "00198" "00467412" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352620" "00198" "00467413" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352621" "00198" "00467414" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352622" "00198" "00467415" "00006" "Isolated (sporadic)" "" "ketosis, projectile vomiting, lethargy, seizures, motor delay, delayed speech and language development, past torticollis and plagiocephaly, gastrointestinal inflammation, recurrent infections" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352623" "00198" "00467416" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352624" "00198" "00467417" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352625" "00198" "00467418" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352626" "00198" "00467419" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352627" "00198" "00467420" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352628" "00198" "00467421" "00006" "Unknown" "" "hemophagocytic lymphohistiocytosis, arthralgias, erythematous rash, recurrent fever" "" "" "" "" "" "" "" "" "" "" "" "0000352629" "00198" "00467422" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352630" "00198" "00467423" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352631" "00198" "00467424" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352632" "00198" "00467425" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352633" "00198" "00467426" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352634" "00198" "00467427" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352635" "00198" "00467428" "00006" "Unknown" "" "bilateral cleft lip and palate" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352636" "00198" "00467429" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352637" "00198" "00467430" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352638" "00198" "00467431" "00006" "Unknown" "" "delayed speech, marked red cell hypoplasia suggestive of Diamond Blackfan anemia, mild asthma; previous proband only whole exome sequencing performed in our laboratory did not yield a definitive diagnosis" "" "" "" "" "" "" "" "" "" "" "" "0000352639" "00198" "00467432" "00006" "Unknown" "" "cleft palate" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352640" "00198" "00467433" "00006" "Unknown" "" "delayed motor milestones, delayed speech, developmental regression, mild intellectual disability, hearing loss, hypotonia, seizure disorder, ataxia and hyperextensibility; MRI brain showed bilateral T2 hyperintensities over cervico-medullary junction and thin spinal cord; metabolic testing showed elevated lactate and muscle biopsy showed defective complex II and III; family history indicates parents are consanguineous." "" "" "" "" "" "" "" "" "" "" "" "0000352641" "00198" "00467434" "00006" "Unknown" "" "delayed motor milestones, delayed speech, intellectual disability, attention deficit disorder, hypotonia, dysmorphic features, short stature and strabismus; family history is positive for both parents with intellectual disability and mother with seizures, a maternal half-sister with similar features and several relatives on the maternal side with learning disability." "" "" "" "" "" "" "" "" "" "" "" "0000352642" "00198" "00467435" "00006" "Unknown" "" "left cleft lip and palate" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352643" "00198" "00467436" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352644" "00198" "00467437" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352645" "00198" "00467438" "00006" "Unknown" "" "clinical diagnosis Marfan syndrome, severe mitral valve prolapse, severe mitral regurgitation, aortic root dilation with congestive heart failure, bilateral ectopia lentis, severe tracheal deformation, pectus excavatum; family history positive for sister with “hole in heart” who is s/p surgery for the hole." "" "" "" "" "" "" "" "" "" "" "" "0000352646" "00198" "00467439" "00006" "Unknown" "" "abnormal ultrasound findings which include alobar holoprosencephaly. Family history is positive for trisomy 21 in a previous pregnancy." "" "" "" "" "" "" "" "" "" "" "" "0000352647" "00198" "00467440" "00006" "Isolated (sporadic)" "" "cleft palate, global hypotonia, developmental delay, autism" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352648" "00198" "00467441" "00006" "Isolated (sporadic)" "" "cleft lip and palate, prominent forehead, moderate intellectual disability" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352649" "00198" "00467442" "00006" "Isolated (sporadic)" "" "Van der Woude syndrome, cleft soft palate" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352650" "00198" "00467443" "00006" "Isolated (sporadic)" "" "Van der Woude syndrome, cleft soft palate" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352651" "00198" "00467444" "00006" "Isolated (sporadic)" "" "lower lip pits, hypodontia, hypernasal speech, hypermobility, seizures, hypohidrosis, hypospadias, eczema" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352652" "00198" "00467445" "00006" "Isolated (sporadic)" "" "cleft palate, sygnathia, elbow/knee contractures, ankyloblepharon, atrial septal defect" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352653" "00198" "00467446" "00006" "Unknown" "" "bilateral cleft lip and palate" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352654" "00198" "00467447" "00006" "Unknown" "" "cleft lip and palate" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352655" "00198" "00467448" "00006" "Unknown" "" "muscle weakness in lower extremities and unsteady gait, fatigue, speech difficulty, writing difficulty." "" "" "" "" "" "" "" "" "" "" "" "0000352656" "00198" "00467449" "00006" "Unknown" "" "severe intrauterine growth restriction, oligohydramnios, premature birth, hypoplastic left heart, aortic valve atresia, mitral valve atresia, hypoplastic aortic arch, and upslanted palpebral fissures" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352657" "00198" "00467450" "00006" "Unknown" "" "cleft palate" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352658" "00198" "00467451" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352659" "00198" "00467452" "00006" "Unknown" "" "intrauterine growth restriction, failure to thrive, vertebral segmentation defect and single kidney; family history significant mother born with club foot" "" "" "" "" "" "" "" "" "" "" "" "0000352660" "00198" "00467453" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352661" "00198" "00467454" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352662" "00198" "00467455" "00006" "Unknown" "" "autism, global developmental delay, mostly nonverbal, toe walking, not able to run or jump, chronic constipation, poor suck, feeding difficulties" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352663" "00198" "00467456" "00006" "Unknown" "" "cleft palate" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352664" "00198" "00467457" "00006" "Unknown" "" "cirrhosis, splenomegaly, portal hypertension, thrombocytopenia, and transaminitis and delayed motor milestones. Brain MRI showed abnormal patchy and confluent white matter signal and abnormal bilateral cerebrum; family history is positive for an older brother with elevated liver transaminases, abdominal distension, portal hypertension and anemia and had liver transplant but passed away from portopulmonary and hepatopulmonary syndrome and gastrointestinal bleeding; family history indicates parents consanguineous" "" "" "" "" "" "" "" "" "" "" "" "0000352665" "00198" "00467458" "00006" "Unknown" "" "unspecified" "" "" "" "" "" "" "" "" "" "" "" "0000352666" "00198" "00467459" "00006" "Unknown" "" "left cleft lip and palate" "" "" "" "" "" "" "" "" "" "orofacial clefts" "" "0000352667" "00198" "00467460" "00006" "Unknown" "" "delayed speech, delayed language development, moderate intellectual disability" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 73 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000469051" "00467388" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469052" "00467389" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469053" "00467390" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469054" "00467391" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469055" "00467392" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469056" "00467393" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469057" "00467394" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469058" "00467395" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469059" "00467396" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469060" "00467397" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469061" "00467398" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469062" "00467399" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469063" "00467400" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469064" "00467401" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469065" "00467402" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469066" "00467403" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469067" "00467404" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469068" "00467405" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469069" "00467406" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469070" "00467407" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469071" "00467408" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469072" "00467409" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469073" "00467410" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469074" "00467411" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469075" "00467412" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469076" "00467413" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469077" "00467414" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469078" "00467415" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469079" "00467416" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469080" "00467417" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469081" "00467418" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469082" "00467419" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469083" "00467420" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469084" "00467421" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469085" "00467422" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469086" "00467423" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469087" "00467424" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469088" "00467425" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469089" "00467426" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469090" "00467427" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469091" "00467428" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469092" "00467429" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469093" "00467430" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469094" "00467431" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469095" "00467432" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469096" "00467433" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469097" "00467434" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469098" "00467435" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469099" "00467436" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469100" "00467437" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469101" "00467438" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469102" "00467439" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469103" "00467440" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469104" "00467441" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469105" "00467442" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469106" "00467443" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469107" "00467444" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469108" "00467445" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469109" "00467446" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469110" "00467447" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469111" "00467448" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469112" "00467449" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469113" "00467450" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469114" "00467451" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469115" "00467452" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469116" "00467453" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469117" "00467454" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469118" "00467455" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469119" "00467456" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469120" "00467457" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469121" "00467458" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469122" "00467459" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469123" "00467460" "1" "00006" "00006" "2025-10-13 11:44:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## 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 = 73 "{{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}}" "0001049219" "0" "30" "3" "169953106" "169953106" "subst" "0" "00006" "PRKCI_000003" "g.169953106C>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.170235318C>G" "" "likely benign" "" "0001049224" "0" "50" "3" "169977771" "169977771" "subst" "0" "00006" "PRKCI_000006" "g.169977771G>C" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.170259983G>C" "" "VUS" "" "0001049225" "0" "50" "3" "169977778" "169977779" "ins" "0" "00006" "PRKCI_000007" "g.169977778_169977779insCC" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.170259990_170259991insCC" "" "VUS" "" "0001049226" "1" "30" "3" "169985708" "169985708" "subst" "1.24104E-5" "00006" "PRKCI_000008" "g.169985708A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs946756475" "0" "" "" "g.170267920A>G" "" "likely benign" "" "0001049227" "1" "70" "3" "169985726" "169985726" "subst" "1.62713E-5" "00006" "PRKCI_000009" "g.169985726C>T" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs56154494" "0" "" "" "g.170267938C>T" "" "likely pathogenic" "" "0001049228" "0" "70" "3" "169985727" "169985727" "subst" "0" "00006" "PRKCI_000010" "g.169985727G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs369872734" "0" "" "" "g.170267939G>A" "" "likely pathogenic" "" "0001049229" "0" "70" "3" "169985727" "169985727" "subst" "0" "00006" "PRKCI_000010" "g.169985727G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs369872734" "0" "" "" "g.170267939G>A" "" "likely pathogenic" "" "0001049230" "0" "70" "3" "169985727" "169985727" "subst" "0" "00006" "PRKCI_000010" "g.169985727G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs369872734" "0" "" "" "g.170267939G>A" "" "likely pathogenic" "" "0001049231" "0" "70" "3" "169985745" "169985745" "subst" "0" "00006" "PRKCI_000011" "g.169985745A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "De novo" "" "" "0" "" "" "g.170267957A>G" "" "likely pathogenic (dominant)" "" "0001049232" "0" "70" "3" "169988210" "169988210" "subst" "4.11699E-6" "00006" "PRKCI_000012" "g.169988210G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs750420887" "0" "" "" "g.170270422G>A" "" "likely pathogenic" "" "0001049233" "0" "70" "3" "169988213" "169988213" "subst" "0" "00006" "PRKCI_000013" "g.169988213C>T" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.170270425C>T" "" "likely pathogenic" "" "0001049234" "0" "30" "3" "169988314" "169988314" "subst" "1.22037E-5" "00006" "PRKCI_000014" "g.169988314G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs1329586167" "0" "" "" "g.170270526G>A" "" "likely benign" "" "0001049235" "0" "30" "3" "169988321" "169988321" "subst" "0.000101726" "00006" "PRKCI_000015" "g.169988321T>C" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs147562215" "0" "" "" "g.170270533T>C" "" "likely benign" "" "0001049236" "0" "30" "3" "169988321" "169988321" "subst" "0.000101726" "00006" "PRKCI_000015" "g.169988321T>C" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs147562215" "0" "" "" "g.170270533T>C" "" "likely benign" "" "0001049237" "1" "30" "3" "169988345" "169988345" "subst" "0" "00006" "PRKCI_000016" "g.169988345C>T" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "" "0" "" "" "g.170270557C>T" "" "likely benign" "" "0001049238" "0" "30" "3" "169988349" "169988349" "subst" "2.25027E-5" "00006" "PRKCI_000017" "g.169988349G>C" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs766551522" "0" "" "" "g.170270561G>C" "" "likely benign" "" "0001049239" "0" "30" "3" "169991096" "169991096" "subst" "4.87468E-5" "00006" "PRKCI_000018" "g.169991096A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs374000097" "0" "" "" "g.170273308A>G" "" "likely benign" "" "0001049240" "0" "30" "3" "169991106" "169991106" "subst" "0" "00006" "PRKCI_000019" "g.169991106G>C" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs750284734" "0" "" "" "g.170273318G>C" "" "likely benign" "" "0001049241" "0" "30" "3" "169993019" "169993019" "subst" "4.71956E-6" "00006" "PRKCI_000020" "g.169993019A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs767045797" "0" "" "" "g.170275231A>G" "" "likely benign" "" "0001049242" "0" "30" "3" "169993022" "169993022" "subst" "0" "00006" "PRKCI_000021" "g.169993022C>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "De novo" "" "rs1734086676" "0" "" "" "g.170275234C>A" "" "likely benign" "" "0001049243" "0" "30" "3" "169993026" "169993026" "subst" "0.000137388" "00006" "PRKCI_000022" "g.169993026A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs191938996" "0" "" "" "g.170275238A>G" "" "likely benign" "" "0001049244" "0" "30" "3" "169993026" "169993026" "subst" "0.000137388" "00006" "PRKCI_000022" "g.169993026A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs191938996" "0" "" "" "g.170275238A>G" "" "likely benign" "" "0001049245" "0" "30" "3" "169993026" "169993026" "subst" "0.000137388" "00006" "PRKCI_000022" "g.169993026A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs191938996" "0" "" "" "g.170275238A>G" "" "likely benign" "" "0001049246" "0" "30" "3" "169993026" "169993026" "subst" "0.000137388" "00006" "PRKCI_000022" "g.169993026A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs191938996" "0" "" "" "g.170275238A>G" "" "likely benign" "" "0001049247" "0" "30" "3" "169998015" "169998015" "subst" "6.9845E-5" "00006" "PRKCI_000023" "g.169998015G>T" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs199997573" "0" "" "" "g.170280227G>T" "" "likely benign" "" "0001049248" "0" "30" "3" "169998024" "169998024" "subst" "1.22688E-5" "00006" "PRKCI_000024" "g.169998024A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs768734145" "0" "" "" "g.170280236A>G" "" "likely benign" "" "0001049249" "0" "30" "3" "169998037" "169998037" "subst" "0.000270138" "00006" "PRKCI_000025" "g.169998037G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs200726509" "0" "" "" "g.170280249G>A" "" "likely benign" "" "0001049250" "0" "30" "3" "169998037" "169998037" "subst" "0.000270138" "00006" "PRKCI_000025" "g.169998037G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs200726509" "0" "" "" "g.170280249G>A" "" "likely benign" "" "0001049251" "0" "30" "3" "169998037" "169998037" "subst" "0.000270138" "00006" "PRKCI_000025" "g.169998037G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs200726509" "0" "" "" "g.170280249G>A" "" "likely benign" "" "0001049252" "0" "30" "3" "169998037" "169998037" "subst" "0.000270138" "00006" "PRKCI_000025" "g.169998037G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs200726509" "0" "" "" "g.170280249G>A" "" "likely benign" "" "0001049253" "0" "30" "3" "169998037" "169998037" "subst" "0.000270138" "00006" "PRKCI_000025" "g.169998037G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs200726509" "0" "" "" "g.170280249G>A" "" "likely benign" "" "0001049254" "0" "30" "3" "169998037" "169998037" "subst" "0.000270138" "00006" "PRKCI_000025" "g.169998037G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs200726509" "0" "" "" "g.170280249G>A" "" "likely benign" "" "0001049255" "1" "30" "3" "169998037" "169998037" "subst" "0.000270138" "00006" "PRKCI_000025" "g.169998037G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs200726509" "0" "" "" "g.170280249G>A" "" "likely benign" "" "0001049256" "0" "30" "3" "169998124" "169998124" "subst" "0.000117879" "00006" "PRKCI_000026" "g.169998124G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs762380206" "0" "" "" "g.170280336G>A" "" "likely benign" "" "0001049257" "0" "70" "3" "169998128" "169998128" "subst" "8.20096E-6" "00006" "PRKCI_000027" "g.169998128A>T" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs150239950" "0" "" "" "g.170280340A>T" "" "likely pathogenic" "" "0001049258" "0" "70" "3" "169998183" "169998183" "subst" "0" "00006" "PRKCI_000028" "g.169998183G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "" "0" "" "" "g.170280395G>A" "" "likely pathogenic" "" "0001049259" "1" "50" "3" "169999005" "169999005" "subst" "4.06167E-6" "00006" "PRKCI_000029" "g.169999005C>T" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs977008114" "0" "" "" "g.170281217C>T" "" "VUS" "" "0001049260" "0" "70" "3" "169999670" "169999670" "subst" "0" "00006" "PRKCI_000030" "g.169999670A>C" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.170281882A>C" "" "likely pathogenic" "" "0001049261" "0" "50" "3" "169999732" "169999735" "del" "0" "00006" "PRKCI_000031" "g.169999732_169999735del" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.170281944_170281947del" "" "VUS" "" "0001049262" "1" "70" "3" "169999741" "169999741" "subst" "0" "00006" "PRKCI_000032" "g.169999741C>T" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs1734260272" "0" "" "" "g.170281953C>T" "" "likely pathogenic" "" "0001049263" "0" "50" "3" "170002275" "170002275" "subst" "4.48522E-5" "00006" "PRKCI_000033" "g.170002275C>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs770485461" "0" "" "" "g.170284487C>G" "" "VUS" "" "0001049264" "0" "50" "3" "170002275" "170002275" "subst" "4.48522E-5" "00006" "PRKCI_000033" "g.170002275C>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs770485461" "0" "" "" "g.170284487C>G" "" "VUS" "" "0001049265" "0" "70" "3" "170002299" "170002299" "subst" "0" "00006" "PRKCI_000034" "g.170002299G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.170284511G>A" "" "likely pathogenic" "" "0001049266" "0" "70" "3" "170002308" "170002308" "subst" "0" "00006" "PRKCI_000035" "g.170002308A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "" "0" "" "" "g.170284520A>G" "" "likely pathogenic" "" "0001049267" "0" "70" "3" "170002329" "170002329" "subst" "0" "00006" "PRKCI_000036" "g.170002329A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "De novo" "" "rs1373137084" "0" "" "" "g.170284541A>G" "" "likely pathogenic (dominant)" "" "0001049268" "0" "70" "3" "170002329" "170002329" "subst" "0" "00006" "PRKCI_000036" "g.170002329A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "De novo" "" "rs1373137084" "0" "" "" "g.170284541A>G" "" "likely pathogenic (dominant)" "" "0001049269" "0" "70" "3" "170002329" "170002329" "subst" "0" "00006" "PRKCI_000036" "g.170002329A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "De novo" "" "rs1373137084" "0" "" "" "g.170284541A>G" "" "likely pathogenic (dominant)" "" "0001049270" "0" "70" "3" "170002329" "170002329" "subst" "0" "00006" "PRKCI_000036" "g.170002329A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "De novo" "" "rs1373137084" "0" "" "" "g.170284541A>G" "" "likely pathogenic (dominant)" "" "0001049271" "0" "70" "3" "170002329" "170002329" "subst" "0" "00006" "PRKCI_000036" "g.170002329A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "variant suspect de novo" "De novo" "" "rs1373137084" "0" "" "" "g.170284541A>G" "" "likely pathogenic" "" "0001049272" "1" "70" "3" "170002336" "170002336" "subst" "0" "00006" "PRKCI_000037" "g.170002336A>C" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "De novo" "" "" "0" "" "" "g.170284548A>C" "" "likely pathogenic (dominant)" "" "0001049273" "1" "70" "3" "170009669" "170009669" "subst" "0" "00006" "PRKCI_000038" "g.170009669A>C" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs1560185295" "0" "" "" "g.170291881A>C" "" "likely pathogenic" "" "0001049274" "1" "70" "3" "170009700" "170009700" "subst" "0" "00006" "PRKCI_000039" "g.170009700C>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs1734562490" "0" "" "" "g.170291912C>G" "" "likely pathogenic" "" "0001049275" "0" "50" "3" "170011246" "170011246" "subst" "4.06114E-6" "00006" "PRKCI_000040" "g.170011246T>C" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs776558522" "0" "" "" "g.170293458T>C" "" "VUS" "" "0001049276" "1" "70" "3" "170013720" "170013720" "subst" "0" "00006" "PRKCI_000041" "g.170013720G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "" "0" "" "" "g.170295932G>A" "" "likely pathogenic" "" "0001049277" "1" "70" "3" "170013720" "170013720" "subst" "0" "00006" "PRKCI_000041" "g.170013720G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "" "0" "" "" "g.170295932G>A" "" "likely pathogenic" "" "0001049278" "0" "30" "3" "170016798" "170016798" "subst" "6.90956E-5" "00006" "PRKCI_000042" "g.170016798G>C" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs142234162" "0" "" "" "g.170299010G>C" "" "likely benign" "" "0001049279" "0" "50" "3" "170016807" "170016807" "subst" "0" "00006" "PRKCI_000043" "g.170016807C>T" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "" "0" "" "" "g.170299019C>T" "" "VUS" "" "0001049280" "0" "70" "3" "170016810" "170016810" "subst" "2.43904E-5" "00006" "PRKCI_000044" "g.170016810T>C" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs750120400" "0" "" "" "g.170299022T>C" "" "likely pathogenic" "" "0001049281" "0" "70" "3" "170016810" "170016810" "subst" "2.43904E-5" "00006" "PRKCI_000044" "g.170016810T>C" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs750120400" "0" "" "" "g.170299022T>C" "" "likely pathogenic" "" "0001049282" "1" "70" "3" "170016810" "170016810" "subst" "2.43904E-5" "00006" "PRKCI_000044" "g.170016810T>C" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs750120400" "0" "" "" "g.170299022T>C" "" "likely pathogenic" "" "0001049283" "1" "50" "3" "170016879" "170016879" "subst" "0" "00006" "PRKCI_000045" "g.170016879C>T" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "" "0" "" "" "g.170299091C>T" "" "VUS" "" "0001049284" "0" "70" "3" "170016895" "170016895" "subst" "0" "00006" "PRKCI_000046" "g.170016895A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "" "0" "" "" "g.170299107A>G" "" "likely pathogenic" "" "0001049285" "0" "30" "3" "170016897" "170016897" "subst" "4.80529E-6" "00006" "PRKCI_000047" "g.170016897G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs145084763" "0" "" "" "g.170299109G>A" "" "likely benign" "" "0001049286" "1" "70" "3" "170020866" "170020866" "subst" "0" "00006" "PRKCI_000048" "g.170020866G>T" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs1475798615" "0" "" "" "g.170303078G>T" "" "likely pathogenic" "" "0001049287" "0" "30" "3" "170020898" "170020898" "subst" "0" "00006" "PRKCI_000049" "g.170020898G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.170303110G>A" "" "likely benign" "" "0001049288" "0" "30" "3" "169953083" "169953083" "subst" "0" "00006" "PRKCI_000001" "g.169953083A>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.170235295A>G" "" "likely benign" "" "0001049289" "0" "30" "3" "169953103" "169953103" "subst" "4.875E-5" "00006" "PRKCI_000002" "g.169953103G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs757899632" "0" "" "" "g.170235315G>A" "" "likely benign" "" "0001049290" "0" "30" "3" "169953103" "169953103" "subst" "4.875E-5" "00006" "PRKCI_000002" "g.169953103G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs757899632" "0" "" "" "g.170235315G>A" "" "likely benign" "" "0001049291" "0" "30" "3" "169953103" "169953103" "subst" "4.875E-5" "00006" "PRKCI_000002" "g.169953103G>A" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs757899632" "0" "" "" "g.170235315G>A" "" "likely benign" "" "0001049292" "0" "30" "3" "169953110" "169953110" "subst" "8.1244E-5" "00006" "PRKCI_000004" "g.169953110T>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs775805215" "0" "" "" "g.170235322T>G" "" "likely benign" "" "0001049293" "0" "30" "3" "169953110" "169953110" "subst" "8.1244E-5" "00006" "PRKCI_000004" "g.169953110T>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs775805215" "0" "" "" "g.170235322T>G" "" "likely benign" "" "0001049294" "0" "30" "3" "169953110" "169953110" "subst" "8.1244E-5" "00006" "PRKCI_000004" "g.169953110T>G" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline/De novo (untested)" "" "rs775805215" "0" "" "" "g.170235322T>G" "" "likely benign" "" "0001049295" "1" "70" "3" "169977763" "169977763" "subst" "4.0873E-6" "00006" "PRKCI_000005" "g.169977763C>T" "" "{PMID:Robinson 2025:40902599}, {DOI:Robinson 2025:10.1016/j.ajhg.2025.08.008 }" "" "" "" "Germline" "" "rs763696294" "0" "" "" "g.170259975C>T" "" "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 PRKCI ## Count = 73 "{{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}}" "0001049219" "00016841" "30" "190" "0" "190" "0" "c.190C>G" "r.(?)" "p.(Gln64Glu)" "" "0001049224" "00016841" "50" "238" "0" "238" "0" "c.238G>C" "r.(?)" "p.(Val80Leu)" "" "0001049225" "00016841" "50" "245" "0" "246" "0" "c.245_246insCC" "r.(?)" "p.(Gln83LeufsTer5)" "" "0001049226" "00016841" "30" "370" "0" "370" "0" "c.370A>G" "r.(?)" "p.(Ile124Val)" "" "0001049227" "00016841" "70" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Cys)" "" "0001049228" "00016841" "70" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130His)" "" "0001049229" "00016841" "70" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130His)" "" "0001049230" "00016841" "70" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130His)" "" "0001049231" "00016841" "70" "407" "0" "407" "0" "c.407A>G" "r.(?)" "p.(Tyr136Cys)" "" "0001049232" "00016841" "70" "452" "0" "452" "0" "c.452G>A" "r.spl?" "p.(Arg151His)" "" "0001049233" "00016841" "70" "455" "0" "455" "0" "c.455C>T" "r.(?)" "p.(Ala152Val)" "" "0001049234" "00016841" "30" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Val186Ile)" "" "0001049235" "00016841" "30" "563" "0" "563" "0" "c.563T>C" "r.(?)" "p.(Ile188Thr)" "" "0001049236" "00016841" "30" "563" "0" "563" "0" "c.563T>C" "r.(?)" "p.(Ile188Thr)" "" "0001049237" "00016841" "30" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Pro196Leu)" "" "0001049238" "00016841" "30" "591" "0" "591" "0" "c.591G>C" "r.spl?" "p.(Gln197His)" "" "0001049239" "00016841" "30" "614" "0" "614" "0" "c.614A>G" "r.(?)" "p.(Gln205Arg)" "" "0001049240" "00016841" "30" "624" "0" "624" "0" "c.624G>C" "r.(?)" "p.(Met208Ile)" "" "0001049241" "00016841" "30" "649" "0" "649" "0" "c.649A>G" "r.spl?" "p.(Ile217Val)" "" "0001049242" "00016841" "30" "652" "0" "652" "0" "c.652C>A" "r.(?)" "p.(Pro218Thr)" "" "0001049243" "00016841" "30" "656" "0" "656" "0" "c.656A>G" "r.(?)" "p.(Tyr219Cys)" "" "0001049244" "00016841" "30" "656" "0" "656" "0" "c.656A>G" "r.(?)" "p.(Tyr219Cys)" "" "0001049245" "00016841" "30" "656" "0" "656" "0" "c.656A>G" "r.(?)" "p.(Tyr219Cys)" "" "0001049246" "00016841" "30" "656" "0" "656" "0" "c.656A>G" "r.(?)" "p.(Tyr219Cys)" "" "0001049247" "00016841" "30" "706" "0" "706" "0" "c.706G>T" "r.spl?" "p.(Ala236Ser)" "" "0001049248" "00016841" "30" "715" "0" "715" "0" "c.715A>G" "r.(?)" "p.(Thr239Ala)" "" "0001049249" "00016841" "30" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Gly243Asp)" "" "0001049250" "00016841" "30" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Gly243Asp)" "" "0001049251" "00016841" "30" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Gly243Asp)" "" "0001049252" "00016841" "30" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Gly243Asp)" "" "0001049253" "00016841" "30" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Gly243Asp)" "" "0001049254" "00016841" "30" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Gly243Asp)" "" "0001049255" "00016841" "30" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Gly243Asp)" "" "0001049256" "00016841" "30" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272Gln)" "" "0001049257" "00016841" "70" "819" "0" "819" "0" "c.819A>T" "r.(?)" "p.(Leu273Phe)" "" "0001049258" "00016841" "70" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Asp292Asn)" "" "0001049259" "00016841" "50" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(His312Tyr)" "" "0001049260" "00016841" "70" "981" "0" "981" "0" "c.981A>C" "r.spl?" "p.(Arg327Ser)" "" "0001049261" "00016841" "50" "1043" "0" "1046" "0" "c.1043_1046del" "r.(?)" "p.(Arg348AsnfsTer16)" "" "0001049262" "00016841" "70" "1052" "0" "1052" "0" "c.1052C>T" "r.(?)" "p.(Pro351Leu)" "" "0001049263" "00016841" "50" "1094" "0" "1094" "0" "c.1094C>G" "r.(?)" "p.(Ala365Gly)" "" "0001049264" "00016841" "50" "1094" "0" "1094" "0" "c.1094C>G" "r.(?)" "p.(Ala365Gly)" "" "0001049265" "00016841" "70" "1118" "0" "1118" "0" "c.1118G>A" "r.(?)" "p.(Gly373Glu)" "" "0001049266" "00016841" "70" "1127" "0" "1127" "0" "c.1127A>G" "r.(?)" "p.(Tyr376Cys)" "" "0001049267" "00016841" "70" "1148" "0" "1148" "0" "c.1148A>G" "r.(?)" "p.(Asn383Ser)" "" "0001049268" "00016841" "70" "1148" "0" "1148" "0" "c.1148A>G" "r.(?)" "p.(Asn383Ser)" "" "0001049269" "00016841" "70" "1148" "0" "1148" "0" "c.1148A>G" "r.(?)" "p.(Asn383Ser)" "" "0001049270" "00016841" "70" "1148" "0" "1148" "0" "c.1148A>G" "r.(?)" "p.(Asn383Ser)" "" "0001049271" "00016841" "70" "1148" "0" "1148" "0" "c.1148A>G" "r.(?)" "p.(Asn383Ser)" "" "0001049272" "00016841" "70" "1155" "0" "1155" "0" "c.1155A>C" "r.(?)" "p.(Leu385Phe)" "" "0001049273" "00016841" "70" "1231" "0" "1231" "0" "c.1231A>C" "r.(?)" "p.(Ser411Arg)" "" "0001049274" "00016841" "70" "1262" "0" "1262" "0" "c.1262C>G" "r.(?)" "p.(Ala421Gly)" "" "0001049275" "00016841" "50" "1367" "0" "1367" "0" "c.1367T>C" "r.(?)" "p.(Val456Ala)" "" "0001049276" "00016841" "70" "1439" "0" "1439" "0" "c.1439G>A" "r.(?)" "p.(Arg480His)" "" "0001049277" "00016841" "70" "1439" "0" "1439" "0" "c.1439G>A" "r.(?)" "p.(Arg480His)" "" "0001049278" "00016841" "30" "1603" "0" "1603" "0" "c.1603G>C" "r.(?)" "p.(Val535Leu)" "" "0001049279" "00016841" "50" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Pro538Ser)" "" "0001049280" "00016841" "70" "1615" "0" "1615" "0" "c.1615T>C" "r.(?)" "p.(Phe539Leu)" "" "0001049281" "00016841" "70" "1615" "0" "1615" "0" "c.1615T>C" "r.(?)" "p.(Phe539Leu)" "" "0001049282" "00016841" "70" "1615" "0" "1615" "0" "c.1615T>C" "r.(?)" "p.(Phe539Leu)" "" "0001049283" "00016841" "50" "1684" "0" "1684" "0" "c.1684C>T" "r.(?)" "p.(Gln562Ter)" "" "0001049284" "00016841" "70" "1700" "0" "1700" "0" "c.1700A>G" "r.(?)" "p.(Asp567Gly)" "" "0001049285" "00016841" "30" "1702" "0" "1702" "0" "c.1702G>A" "r.spl?" "p.(Asp568Asn)" "" "0001049286" "00016841" "70" "1742" "0" "1742" "0" "c.1742G>T" "r.(?)" "p.(Gly581Val)" "" "0001049287" "00016841" "30" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Ala592Thr)" "" "0001049288" "00016841" "30" "167" "0" "167" "0" "c.167A>G" "r.(?)" "p.(Asp56Gly)" "" "0001049289" "00016841" "30" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Glu63Lys)" "" "0001049290" "00016841" "30" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Glu63Lys)" "" "0001049291" "00016841" "30" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Glu63Lys)" "" "0001049292" "00016841" "30" "194" "0" "194" "0" "c.194T>G" "r.(?)" "p.(Leu65Arg)" "" "0001049293" "00016841" "30" "194" "0" "194" "0" "c.194T>G" "r.(?)" "p.(Leu65Arg)" "" "0001049294" "00016841" "30" "194" "0" "194" "0" "c.194T>G" "r.(?)" "p.(Leu65Arg)" "" "0001049295" "00016841" "70" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Pro77Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 73 "{{screeningid}}" "{{variantid}}" "0000469051" "0001049288" "0000469052" "0001049289" "0000469053" "0001049290" "0000469054" "0001049291" "0000469055" "0001049219" "0000469056" "0001049292" "0000469057" "0001049293" "0000469058" "0001049294" "0000469059" "0001049295" "0000469060" "0001049224" "0000469061" "0001049225" "0000469062" "0001049226" "0000469063" "0001049227" "0000469064" "0001049228" "0000469065" "0001049229" "0000469066" "0001049230" "0000469067" "0001049231" "0000469068" "0001049232" "0000469069" "0001049233" "0000469070" "0001049234" "0000469071" "0001049235" "0000469072" "0001049236" "0000469073" "0001049237" "0000469074" "0001049238" "0000469075" "0001049239" "0000469076" "0001049240" "0000469077" "0001049241" "0000469078" "0001049242" "0000469079" "0001049243" "0000469080" "0001049244" "0000469081" "0001049245" "0000469082" "0001049246" "0000469083" "0001049247" "0000469084" "0001049248" "0000469085" "0001049249" "0000469086" "0001049250" "0000469087" "0001049251" "0000469088" "0001049252" "0000469089" "0001049253" "0000469090" "0001049254" "0000469091" "0001049255" "0000469092" "0001049256" "0000469093" "0001049257" "0000469094" "0001049258" "0000469095" "0001049259" "0000469096" "0001049260" "0000469097" "0001049261" "0000469098" "0001049262" "0000469099" "0001049263" "0000469100" "0001049264" "0000469101" "0001049265" "0000469102" "0001049266" "0000469103" "0001049267" "0000469104" "0001049268" "0000469105" "0001049269" "0000469106" "0001049270" "0000469107" "0001049271" "0000469108" "0001049272" "0000469109" "0001049273" "0000469110" "0001049274" "0000469111" "0001049275" "0000469112" "0001049276" "0000469113" "0001049277" "0000469114" "0001049278" "0000469115" "0001049279" "0000469116" "0001049280" "0000469117" "0001049281" "0000469118" "0001049282" "0000469119" "0001049283" "0000469120" "0001049284" "0000469121" "0001049285" "0000469122" "0001049286" "0000469123" "0001049287"