### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RFC1) # 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}}" "RFC1" "replication factor C (activator 1) 1, 145kDa" "4" "p14-p13" "unknown" "NC_000004.11" "UD_132439587780" "" "https://www.LOVD.nl/RFC1" "" "1" "9969" "5981" "102579" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/RFC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-07-31 19:28:28" "00006" "2026-02-25 15:07:10" ## 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}}" "00017651" "RFC1" "transcript variant 1" "001" "NM_002913.4" "" "NP_002904.3" "" "" "" "-140" "4756" "3444" "39368001" "39289069" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "" "" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "05640" "CANVAS" "ataxia, cerebellar, neuropathy, and vestibular areflexia syndrome (CANVAS)" "AR" "614575" "" "" "autosomal recessive" "00006" "2019-07-31 19:35:41" "00006" "2021-12-10 21:51:32" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RFC1" "05640" ## Individuals ## Do not remove or alter this header ## ## Count = 91 "{{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}}" "00248186" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00249663" "" "" "" "3" "" "00006" "{PMID:Cortese 2019:30926972}" "2-generation family, 3 affected (3M), unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam1-1" "00249664" "" "" "00249663" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "" "M" "" "" "" "0" "" "" "" "Fam1-2" "00249665" "" "" "00249663" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "" "M" "" "" "" "0" "" "" "" "Fam1-3" "00249666" "" "" "" "2" "" "00006" "{PMID:Cortese 2019:30926972}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam2-1" "00249667" "" "" "00249666" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "" "F" "" "" "" "0" "" "" "" "Fam2-2" "00249668" "" "" "" "2" "" "00006" "{PMID:Cortese 2019:30926972}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam3-1" "00249669" "" "" "00249668" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "" "F" "" "" "" "0" "" "" "" "Fam3-2" "00249670" "" "" "" "2" "" "00006" "{PMID:Cortese 2019:30926972}" "2-generation family, 2 affected (2M), unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam4-2" "00249671" "" "" "" "3" "" "00006" "{PMID:Cortese 2019:30926972}" "3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam5a-1" "00249672" "" "" "00249671" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "" "F" "" "" "" "0" "" "" "" "Fam5a-2" "00249673" "" "" "00249671" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "" "M" "" "" "" "0" "" "" "" "Fam5b-2" "00249674" "" "" "" "3" "" "00006" "{PMID:Cortese 2019:30926972}" "3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam6a-1" "00249675" "" "" "00249674" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "" "F" "" "" "" "0" "" "" "" "Fam6a-2" "00249676" "" "" "00249674" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "" "M" "" "" "" "0" "" "" "" "Fam6b-1" "00249677" "" "" "" "2" "" "00006" "{PMID:Cortese 2019:30926972}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "Fam7-1" "00249678" "" "" "00249677" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "" "M" "yes" "" "" "0" "" "" "" "Fam7-2" "00249679" "" "" "" "2" "" "00006" "{PMID:Cortese 2019:30926972}" "2-generation family, 2 affected (2F), unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam8-2" "00249680" "" "" "00249679" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "" "F" "" "" "" "0" "" "" "" "Fam8-3" "00249681" "" "" "" "2" "" "00006" "{PMID:Cortese 2019:30926972}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam9-1" "00249682" "" "" "00249681" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "" "F" "" "" "" "0" "" "" "" "Fam9-2" "00249683" "" "" "" "2" "" "00006" "{PMID:Cortese 2019:30926972}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam10-2" "00249684" "" "" "00249683" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "" "M" "" "" "" "0" "" "" "" "Fam10-1" "00249685" "" "" "" "2" "" "00006" "{PMID:Cortese 2019:30926972}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam11-2" "00249686" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "M" "" "" "" "0" "" "" "" "s1" "00249687" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s2" "00249688" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "M" "" "" "" "0" "" "" "" "s3" "00249689" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s4" "00249690" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s5" "00249691" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "M" "" "" "" "0" "" "" "" "s6" "00249692" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s7" "00249693" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s8" "00249694" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "M" "" "" "" "0" "" "" "" "s9" "00249695" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "M" "" "" "" "0" "" "" "" "s10" "00249696" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "M" "" "" "" "0" "" "" "" "s11" "00249697" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "M" "" "" "" "0" "" "" "" "s12" "00249698" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s13" "00249699" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s14" "00249700" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "M" "" "" "" "0" "" "" "" "s15" "00249701" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s16" "00249702" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "M" "" "" "" "0" "" "" "" "S17" "00249703" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "M" "" "" "" "0" "" "" "" "S18" "00249704" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "M" "" "" "" "0" "" "" "" "S19" "00249705" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s20" "00249706" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s21" "00249707" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s22" "00249708" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s23" "00249709" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "M" "" "" "" "0" "" "" "" "s24" "00249710" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "M" "" "" "" "0" "" "" "" "s25" "00249711" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s26" "00249712" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s27" "00249713" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s28" "00249714" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "M" "" "" "" "0" "" "" "" "s29" "00249715" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s30" "00249716" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s31" "00249717" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "F" "" "" "" "0" "" "" "" "s32" "00249718" "" "" "" "1" "" "00006" "{PMID:Cortese 2019:30926972}" "sporadic case" "M" "" "" "" "0" "" "" "" "s33" "00249719" "" "" "" "79" "" "00006" "{PMID:Cortese 2019:30926972}" "analysis 608 normal chromosome" "F;M" "" "" "" "0" "" "" "" "control" "00249720" "" "" "" "48" "" "00006" "{PMID:Cortese 2019:30926972}" "analysis 608 normal chromosome" "F;M" "" "" "" "0" "" "" "" "control" "00249721" "" "" "" "4" "" "00006" "{PMID:Cortese 2019:30926972}" "analysis 608 normal chromosome" "F;M" "" "" "" "0" "" "" "" "control" "00249724" "" "" "" "2" "" "00006" "{PMID:Rafehi 2019:31230722}" "2-generation family, 2 affected (2F), unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "Europe" "CANVAS1" "00249725" "" "" "" "2" "" "00006" "{PMID:Rafehi 2019:31230722}" "2-generation family, 2 affected (2M), unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "Europe" "CANVAS2" "00249726" "" "" "" "2" "" "00006" "{PMID:Rafehi 2019:31230722}" "2-generation family, 2 affected (2F), unaffected heterozygous carrier parents" "F" "" "Cyprus" "" "0" "" "" "Greece" "CANVAS3" "00249727" "" "" "" "4" "" "00006" "{PMID:Rafehi 2019:31230722}" "2-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents" "F;M" "" "" "" "0" "" "" "" "CANVAS4" "00249728" "" "" "" "2" "" "00006" "{PMID:Rafehi 2019:31230722}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F;M" "" "Lithuania;Latvia" "" "0" "" "" "" "CANVAS5" "00249729" "" "" "" "1" "" "00006" "{PMID:Rafehi 2019:31230722}" "2-generation family, 2 affected (2M), unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "Europe" "CANVAS6" "00249730" "" "" "" "1" "" "00006" "{PMID:Rafehi 2019:31230722}" "" "M" "" "Australia" "" "0" "" "" "Europe; Maori" "CANVAS7" "00249731" "" "" "" "1" "" "00006" "{PMID:Rafehi 2019:31230722}" "" "F" "" "" "" "0" "" "" "Europe" "CANVAS8" "00249732" "" "" "" "4" "" "00006" "{PMID:Rafehi 2019:31230722}" "2-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents" "F;M" "" "Lebanon" "" "0" "" "" "" "CANVAS9" "00249733" "" "" "" "1" "" "00006" "{PMID:Rafehi 2019:31230722}" "" "M" "" "" "" "0" "" "" "Europe" "CANVAS10" "00249735" "" "" "" "1" "" "00006" "{PMID:Rafehi 2019:31230722}" "" "M" "" "Turkey" "" "0" "" "" "" "CANVAS12" "00249737" "" "" "" "1" "" "00006" "{PMID:Rafehi 2019:31230722}" "" "M" "" "" "" "0" "" "" "Europe" "CANVAS14" "00249738" "" "" "" "1" "" "00006" "{PMID:Rafehi 2019:31230722}" "" "F" "" "" "" "0" "" "" "Europe" "CANVAS16" "00249740" "" "" "" "1" "" "00006" "{PMID:Rafehi 2019:31230722}" "" "F" "" "Australia" "" "0" "" "" "Europe; Maori" "CANVAS18" "00249742" "" "" "" "2" "" "00006" "{PMID:Rafehi 2019:31230722}" "3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F;M" "" "Spain" "" "0" "" "" "" "CANVAS20" "00249743" "" "" "" "1" "" "00006" "{PMID:Rafehi 2019:31230722}" "" "M" "" "India" "" "0" "" "" "" "CANVAS21" "00249744" "" "" "" "1" "" "00006" "{PMID:Rafehi 2019:31230722}" "" "M" "" "Hungary" "" "0" "" "" "" "CANVAS22" "00249745" "" "" "" "1" "" "00006" "{PMID:Rafehi 2019:31230722}" "" "" "" "" "" "0" "" "" "" "CANVAS23" "00334298" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334307" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334324" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334368" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334535" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334548" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334853" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334860" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335043" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00392911" "" "" "" "1" "" "00000" "{PMID:Bergant 2021:33807868}" "" "" "" "Italy" "" "0" "" "" "" "P06" "00428061" "" "" "" "1" "" "00006" "{PMID:Schoeberl 2022:34821988}" "2-generation family, 1 affected, unaffected parents" "M" "" "Germany" "" "0" "" "" "" "patient" "00450514" "" "" "" "1" "" "00006" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}, {PMID:Steyaert 2025:40138663},{DOI:Yepez 2026:10.64898/2026.02.10.26345954}" "patient" "F" "" "" "" "0" "" "" "" "F051.3/P0019022" "00470677" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "F" "" "Poland" "" "0" "" "" "" "Pat38" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 91 "{{individualid}}" "{{diseaseid}}" "00248186" "00318" "00249663" "05356" "00249664" "05356" "00249665" "05356" "00249666" "05356" "00249667" "05356" "00249668" "05356" "00249669" "05356" "00249670" "05356" "00249671" "05356" "00249672" "05356" "00249673" "05356" "00249674" "05356" "00249675" "05356" "00249676" "05356" "00249677" "05356" "00249678" "05356" "00249679" "05356" "00249680" "05356" "00249681" "05356" "00249682" "05356" "00249683" "05356" "00249684" "05356" "00249685" "05356" "00249686" "05356" "00249687" "05356" "00249688" "05356" "00249689" "05356" "00249690" "05356" "00249691" "05356" "00249692" "05356" "00249693" "05356" "00249694" "05356" "00249695" "05356" "00249696" "05356" "00249697" "05356" "00249698" "05356" "00249699" "05356" "00249700" "05356" "00249701" "05356" "00249702" "05356" "00249703" "05356" "00249704" "05356" "00249705" "05356" "00249706" "05356" "00249707" "05356" "00249708" "05356" "00249709" "05356" "00249710" "05356" "00249711" "05356" "00249712" "05356" "00249713" "05356" "00249714" "05356" "00249715" "05356" "00249716" "05356" "00249717" "05356" "00249718" "05356" "00249719" "00000" "00249720" "00000" "00249721" "00000" "00249724" "05356" "00249725" "05356" "00249726" "05356" "00249727" "05356" "00249728" "05356" "00249729" "05356" "00249730" "05356" "00249731" "05356" "00249732" "05356" "00249733" "05356" "00249735" "05356" "00249737" "05356" "00249738" "05356" "00249740" "05356" "00249742" "05356" "00249743" "05356" "00249744" "05356" "00249745" "05356" "00334298" "05793" "00334307" "05793" "00334324" "05793" "00334368" "05793" "00334535" "05793" "00334548" "05793" "00334853" "05793" "00334860" "05793" "00335043" "05793" "00392911" "04214" "00428061" "04255" "00450514" "05356" "00470677" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00318, 04214, 04255, 05356, 05640, 05793, 07210 ## Count = 88 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000187195" "00318" "00248186" "01474" "Unknown" "" "32y ductal breast cancer, subtype HER-2" "32y" "" "" "" "" "" "" "" "breast cancer" "" "0000188536" "05356" "00249663" "00006" "Familial, autosomal recessive" "69y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "49y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188537" "05356" "00249664" "00006" "Familial, autosomal recessive" "65y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential" "50y" "" "unsteadiness, pain" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188538" "05356" "00249665" "00006" "Familial, autosomal recessive" "63y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272)" "48y" "" "unsteadiness in the dark, numb feet, pain" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188539" "05356" "00249666" "00006" "Familial, autosomal recessive" "78y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735)" "60y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188540" "05356" "00249667" "00006" "Familial, autosomal recessive" "69y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency and retention); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "58y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188541" "05356" "00249668" "00006" "Familial, autosomal recessive" "80y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272)" "55y" "" "Unsteadiness, pain" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188542" "05356" "00249669" "00006" "Familial, autosomal recessive" "78y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "55y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188543" "05356" "00249670" "00006" "Familial, autosomal recessive" "77y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (fecal incontinence); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs" "66y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188544" "05356" "00249671" "00006" "Familial, autosomal recessive" "65y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "59y" "" "unsteadiness, numb feet" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188545" "05356" "00249672" "00006" "Familial, autosomal recessive" "54y" "peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); no cerebellar atrophy (-HP:0001272)" "53y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188546" "05356" "00249673" "00006" "Familial, autosomal recessive" "62y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "60y" "" "unsteadiness, numb feet" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188547" "05356" "00249674" "00006" "Familial, autosomal recessive" "77y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "67y" "" "unsteadiness, falls" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188548" "05356" "00249675" "00006" "Familial, autosomal recessive" "74y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "69y" "" "unsteadiness in the dark, pain" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188549" "05356" "00249676" "00006" "Familial, autosomal recessive" "70y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "40y" "" "numb hands, later unsteadiness, oscillopsia" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188550" "05356" "00249677" "00006" "Familial, autosomal recessive" "50y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "45y" "" "dizziness, later unsteadiness and falls" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188551" "05356" "00249678" "00006" "Familial, autosomal recessive" "48y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "43y" "" "dizziness, later unsteadiness and falls" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188552" "05356" "00249679" "00006" "Familial, autosomal recessive" "58y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188553" "05356" "00249680" "00006" "Familial, autosomal recessive" "52y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (abnormal pupil reactivity); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188554" "05356" "00249681" "00006" "Familial, autosomal recessive" "68y" "peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (erectile dysfunction); cough (HP:0012735); absent; reduced sensory action potentials lower limbs; normal compound motor action potential;" "45y" "" "unsteadiness in the dark, numb hands" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188555" "05356" "00249682" "00006" "Familial, autosomal recessive" "64y" "peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272)" "45y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188556" "05356" "00249683" "00006" "Familial, autosomal recessive" "57y" "peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential" "55y" "" "numb feet" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188557" "05356" "00249684" "00006" "Familial, autosomal recessive" "57y" "peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential" "50y" "" "numb feet" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188558" "05356" "00249685" "00006" "Familial, autosomal recessive" "64y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "45y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188559" "05356" "00249686" "00006" "Familial, autosomal recessive" "72y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (erectile dysfunction); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "65y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188560" "05356" "00249687" "00006" "Familial, autosomal recessive" "65y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (constipation, urinary incontinence, impaired regulation of blood pressure); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "48y" "" "unsteadiness, numb hands" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188561" "05356" "00249688" "00006" "Familial, autosomal recessive" "62y" "peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs" "45y" "" "unsteadiness in the dark, numb feet" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188562" "05356" "00249689" "00006" "Familial, autosomal recessive" "72y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary retention); cough (HP:0012735); absent; absent sensory action potentials lower limbs; compound motor action potential patchy reduction of conduction velocities; cerebellar atrophy (HP:0001272)" "62y" "" "unsteadiness, numb feet" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188563" "05356" "00249690" "00006" "Familial, autosomal recessive" "74y" "peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "54y" "" "unsteadiness, pain" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188564" "05356" "00249691" "00006" "Familial, autosomal recessive" "55y" "peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (constipation); no cough (-HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "49y" "" "unsteadiness, numbness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188565" "05356" "00249692" "00006" "Familial, autosomal recessive" "62y" "peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272)" "48y" "" "numb hands" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188566" "05356" "00249693" "00006" "Familial, autosomal recessive" "82y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272)" "60y" "" "numb feet" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188567" "05356" "00249694" "00006" "Familial, autosomal recessive" "74y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "59y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188568" "05356" "00249695" "00006" "Familial, autosomal recessive" "72y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272)" "69y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188569" "05356" "00249696" "00006" "Familial, autosomal recessive" "55y" "peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735)" "45y" "" "numb feet, dysesthesia" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188570" "05356" "00249697" "00006" "Familial, autosomal recessive" "" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "" "" "" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188571" "05356" "00249698" "00006" "Familial, autosomal recessive" "65y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary dysfunction); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272)" "45y" "" "numbness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188572" "05356" "00249699" "00006" "Familial, autosomal recessive" "76y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency, gastro-intestinal dysmotility); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "65y" "" "unsteadiness in the dark, pain" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188573" "05356" "00249700" "00006" "Familial, autosomal recessive" "71y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272)" "65y" "" "unsteadiness in the dark" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188574" "05356" "00249701" "00006" "Familial, autosomal recessive" "73y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "69y" "" "unsteadiness, vertigo" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188575" "05356" "00249702" "00006" "Familial, autosomal recessive" "63y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential" "55y" "" "Unsteadiness, numb hands" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188576" "05356" "00249703" "00006" "Familial, autosomal recessive" "60y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "50y" "" "unsteadiness, slurred speech" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188577" "05356" "00249704" "00006" "Familial, autosomal recessive" "55y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "45y" "" "unsteadiness in the dark" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188578" "05356" "00249705" "00006" "Familial, autosomal recessive" "65y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential" "50y" "" "unsteadiness in the dark" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188579" "05356" "00249706" "00006" "Familial, autosomal recessive" "72y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "" "" "" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188580" "05356" "00249707" "00006" "Familial, autosomal recessive" "47y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential" "40y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188581" "05356" "00249708" "00006" "Familial, autosomal recessive" "76y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "70y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188582" "05356" "00249709" "00006" "Familial, autosomal recessive" "73y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "69y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188583" "05356" "00249710" "00006" "Familial, autosomal recessive" "40y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "35y" "" "plodding/flatfooted, speech problems age 35" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188584" "05356" "00249711" "00006" "Familial, autosomal recessive" "38y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272)" "35y" "" "unsteadiness, vertigo and speech" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188585" "05356" "00249712" "00006" "Familial, autosomal recessive" "54y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "53y" "" "early oscillopsia, unsteadiness, numbness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188586" "05356" "00249713" "00006" "Familial, autosomal recessive" "67y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs" "60y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188587" "05356" "00249714" "00006" "Familial, autosomal recessive" "64y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (constipation, xeropthalmia); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "54y" "" "unsteadiness, dysarthria, numbness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188588" "05356" "00249715" "00006" "Familial, autosomal recessive" "73y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential" "65y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188589" "05356" "00249716" "00006" "Familial, autosomal recessive" "61y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735)" "58y" "" "unsteadiness" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188590" "05356" "00249717" "00006" "Familial, autosomal recessive" "64y" "peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (abnormal blood pressure control, abnormal bowel motility); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)" "50y" "" "unsteadiness in the dark, numb hands" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188591" "05356" "00249718" "00006" "Familial, autosomal recessive" "51y" "peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272)" "48y" "" "unsteadiness in the dark, pain" "" "" "" "" "CANVAS" "late-onset ataxia" "" "0000188594" "05356" "00249724" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188595" "05356" "00249725" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188596" "05356" "00249726" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188597" "05356" "00249727" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188598" "05356" "00249728" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188599" "05356" "00249729" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188600" "05356" "00249730" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188601" "05356" "00249731" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188602" "05356" "00249732" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188603" "05356" "00249733" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188605" "05356" "00249735" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188607" "05356" "00249737" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188608" "05356" "00249738" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188610" "05356" "00249740" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188612" "05356" "00249742" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188613" "05356" "00249743" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188614" "05356" "00249744" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000188615" "05356" "00249745" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CANVAS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000253108" "05793" "00334298" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253117" "05793" "00334307" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253134" "05793" "00334324" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253163" "05793" "00334368" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253225" "05793" "00334535" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253238" "05793" "00334548" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253250" "05793" "00334853" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253257" "05793" "00334860" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253325" "05793" "00335043" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000286151" "04214" "00392911" "00000" "Unknown" "60y" "cerebellar ataxia, neuropathy, vestibular areflexia, nystagmus, asymmetric lower limb distal muscle atrophy and weakness, tremor, mild dysdiadochokinesia, diffuse reduced touch sensibility over trunk and limbs and reduced sense of vibration" "" "" "" "" "" "" "" "CANVAS syndrome" "" "" "0000319007" "04255" "00428061" "00006" "Familial, autosomal recessive" "64y" "progressive painless weakness both hands; generalized polytopic muscle fasciculations, muscle paresis finger adduction/abduction, finger extension, thumb opposition, wrist extension/flexion and hip flexion; split hand sign both sides; brisk muscle reflexes left upper limb with decreased ankle jerks bilaterally; no sensory/proprioceptive deficits, no ataxia/vestibulopathy; EMG degenerative motor neuron disease; bilaterally absent sural/superficial peroneal nerve potentials and sensory evoked potentials tibial nerves; vestibular testing by inner ear calorics/video-assisted head-impulse-test isolated bilateral presbyvestibulopathy low-frequency range" "" "" "" "" "" "" "" "" "progressive painless weakness both hands" "" "0000339569" "05356" "00450514" "00006" "Familial, autosomal recessive" "" "see paper; ..., gait ataxia" "" "" "" "" "" "" "" "CANVAS" "ataxia" "" "0000355571" "07210" "00470677" "00006" "Unknown" "15y" "see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 91 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000249291" "00248186" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000250770" "00249663" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250771" "00249664" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250772" "00249665" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250773" "00249666" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250774" "00249667" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250775" "00249668" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250776" "00249669" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250777" "00249670" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250778" "00249671" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250779" "00249672" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250780" "00249673" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250781" "00249674" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250782" "00249675" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250783" "00249676" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250784" "00249677" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250785" "00249678" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250786" "00249679" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250787" "00249680" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250788" "00249681" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250789" "00249682" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250790" "00249683" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250791" "00249684" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250792" "00249685" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250793" "00249686" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250794" "00249687" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250795" "00249688" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250796" "00249689" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250797" "00249690" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250798" "00249691" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250799" "00249692" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250800" "00249693" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250801" "00249694" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250802" "00249695" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250803" "00249696" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250804" "00249697" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250805" "00249698" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250806" "00249699" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250807" "00249700" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250808" "00249701" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250809" "00249702" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250810" "00249703" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250811" "00249704" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250812" "00249705" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250813" "00249706" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250814" "00249707" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250815" "00249708" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250816" "00249709" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250817" "00249710" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250818" "00249711" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250819" "00249712" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250820" "00249713" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250821" "00249714" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250822" "00249715" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250823" "00249716" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250824" "00249717" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250825" "00249718" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250826" "00249719" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250827" "00249720" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250828" "00249721" "1" "00006" "00006" "2019-08-02 10:39:39" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250831" "00249724" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250832" "00249725" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250833" "00249726" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250834" "00249727" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250835" "00249728" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250836" "00249729" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250837" "00249730" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250838" "00249731" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250839" "00249732" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250840" "00249733" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250842" "00249735" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250844" "00249737" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250845" "00249738" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250847" "00249740" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250849" "00249742" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250850" "00249743" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250851" "00249744" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000250852" "00249745" "1" "00006" "00006" "2019-08-02 11:14:58" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000335525" "00334298" "1" "04011" "04011" "2021-02-27 05:45:56" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335535" "00334307" "1" "04011" "04011" "2021-02-27 07:02:54" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335552" "00334324" "1" "04011" "04011" "2021-02-27 14:24:46" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335596" "00334368" "1" "04011" "04011" "2021-02-28 08:40:49" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335764" "00334535" "1" "04011" "04011" "2021-03-01 12:52:18" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335777" "00334548" "1" "04011" "04011" "2021-03-01 14:41:31" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336082" "00334853" "1" "04011" "04011" "2021-03-02 04:56:20" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336089" "00334860" "1" "04011" "04011" "2021-03-02 06:23:36" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336272" "00335043" "1" "04011" "04011" "2021-03-03 06:44:39" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000394158" "00392911" "1" "00000" "03840" "2021-11-25 10:23:18" "" "" "SEQ" "DNA" "blood" "whole genome sequencing after negative exome" "0000429473" "00428061" "1" "00006" "00006" "2022-12-20 15:48:15" "" "" "SEQ-ON" "DNA" "" "CRISPR/Cas9 target enrichment" "0000452112" "00450514" "1" "00006" "00006" "2024-05-29 10:26:11" "" "" "SEQ-PB" "DNA" "" "" "0000472344" "00470677" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 79 "{{screeningid}}" "{{geneid}}" "0000250770" "RFC1" "0000250771" "RFC1" "0000250772" "RFC1" "0000250773" "RFC1" "0000250774" "RFC1" "0000250775" "RFC1" "0000250776" "RFC1" "0000250777" "RFC1" "0000250778" "RFC1" "0000250779" "RFC1" "0000250780" "RFC1" "0000250781" "RFC1" "0000250782" "RFC1" "0000250783" "RFC1" "0000250784" "RFC1" "0000250785" "RFC1" "0000250786" "RFC1" "0000250787" "RFC1" "0000250788" "RFC1" "0000250789" "RFC1" "0000250790" "RFC1" "0000250791" "RFC1" "0000250792" "RFC1" "0000250793" "RFC1" "0000250794" "RFC1" "0000250795" "RFC1" "0000250796" "RFC1" "0000250797" "RFC1" "0000250798" "RFC1" "0000250799" "RFC1" "0000250800" "RFC1" "0000250801" "RFC1" "0000250802" "RFC1" "0000250803" "RFC1" "0000250804" "RFC1" "0000250805" "RFC1" "0000250806" "RFC1" "0000250807" "RFC1" "0000250808" "RFC1" "0000250809" "RFC1" "0000250810" "RFC1" "0000250811" "RFC1" "0000250812" "RFC1" "0000250813" "RFC1" "0000250814" "RFC1" "0000250815" "RFC1" "0000250816" "RFC1" "0000250817" "RFC1" "0000250818" "RFC1" "0000250819" "RFC1" "0000250820" "RFC1" "0000250821" "RFC1" "0000250822" "RFC1" "0000250823" "RFC1" "0000250824" "RFC1" "0000250825" "RFC1" "0000250826" "RFC1" "0000250827" "RFC1" "0000250828" "RFC1" "0000250831" "RFC1" "0000250832" "RFC1" "0000250833" "RFC1" "0000250834" "RFC1" "0000250835" "RFC1" "0000250836" "RFC1" "0000250837" "RFC1" "0000250838" "RFC1" "0000250839" "RFC1" "0000250840" "RFC1" "0000250842" "RFC1" "0000250844" "RFC1" "0000250845" "RFC1" "0000250847" "RFC1" "0000250849" "RFC1" "0000250850" "RFC1" "0000250851" "RFC1" "0000250852" "RFC1" "0000394158" "RFC1" "0000429473" "RFC1" ## 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 = 127 "{{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}}" "0000578040" "0" "50" "4" "39304693" "39304693" "del" "0" "01474" "RFC1_000001" "g.39304693del" "" "{PMID:Lhota 2016:26822949}" "" "2191delA" "" "Germline" "" "" "0" "" "" "g.39303073del" "" "VUS" "" "0000580116" "1" "90" "4" "" "" "" "" "00006" "RFC1_000002" "g.39350043_39350099AAGGG[(880)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(880)]" "" "pathogenic (recessive)" "" "0000580117" "1" "90" "4" "" "" "" "" "00006" "RFC1_000002" "g.39350043_39350099AAGGG[(880)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(880)]" "" "pathogenic (recessive)" "" "0000580118" "1" "90" "4" "" "" "" "" "00006" "RFC1_000002" "g.39350043_39350099AAGGG[(880)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(880)]" "" "pathogenic (recessive)" "" "0000580119" "1" "90" "4" "" "" "" "" "00006" "RFC1_000003" "g.39350043_39350099AAGGG[(1200)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(1200)]" "" "pathogenic (recessive)" "" "0000580120" "1" "90" "4" "" "" "" "" "00006" "RFC1_000003" "g.39350043_39350099AAGGG[(1200)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(1200)]" "" "pathogenic (recessive)" "" "0000580121" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580122" "1" "90" "4" "" "" "" "" "00006" "RFC1_000005" "g.39350043_39350099AAGGG[(1080)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(1080)]" "" "pathogenic (recessive)" "" "0000580123" "1" "90" "4" "" "" "" "" "00006" "RFC1_000002" "g.39350043_39350099AAGGG[(880)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(880)]" "" "pathogenic (recessive)" "" "0000580124" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580125" "1" "90" "4" "" "" "" "" "00006" "RFC1_000006" "g.39350043_39350099AAGGG[(1000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(1000)]" "" "pathogenic (recessive)" "" "0000580126" "1" "90" "4" "" "" "" "" "00006" "RFC1_000006" "g.39350043_39350099AAGGG[(1000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(1000)]" "" "pathogenic (recessive)" "" "0000580127" "1" "90" "4" "" "" "" "" "00006" "RFC1_000007" "g.39350043_39350099AAGGG[(600)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(600)]" "" "pathogenic (recessive)" "" "0000580128" "1" "90" "4" "" "" "" "" "00006" "RFC1_000007" "g.39350043_39350099AAGGG[(600)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(600)]" "" "pathogenic (recessive)" "" "0000580129" "1" "90" "4" "" "" "" "" "00006" "RFC1_000002" "g.39350043_39350099AAGGG[(880)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(880)]" "" "pathogenic (recessive)" "" "0000580130" "1" "90" "4" "" "" "" "" "00006" "RFC1_000003" "g.39350043_39350099AAGGG[(1200)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(1200)]" "" "pathogenic (recessive)" "" "0000580131" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580132" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580133" "1" "90" "4" "" "" "" "" "00006" "RFC1_000008" "g.39350043_39350099AAGGG[(1400)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(1400)]" "" "pathogenic (recessive)" "" "0000580134" "1" "90" "4" "" "" "" "" "00006" "RFC1_000002" "g.39350043_39350099AAGGG[(880)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(880)]" "" "pathogenic (recessive)" "" "0000580135" "1" "90" "4" "" "" "" "" "00006" "RFC1_000007" "g.39350043_39350099AAGGG[(600)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(600)]" "" "pathogenic (recessive)" "" "0000580136" "1" "90" "4" "" "" "" "" "00006" "RFC1_000009" "g.39350043_39350099AAGGG[(400)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(400)]" "" "pathogenic (recessive)" "" "0000580137" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580138" "1" "90" "4" "" "" "" "" "00006" "RFC1_000002" "g.39350043_39350099AAGGG[(880)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(880)]" "" "pathogenic (recessive)" "" "0000580139" "1" "90" "4" "" "" "" "" "00006" "RFC1_000010" "g.39350043_39350099AAGGG[(800)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(800)]" "" "pathogenic (recessive)" "" "0000580140" "1" "90" "4" "" "" "" "" "00006" "RFC1_000006" "g.39350043_39350099AAGGG[(1000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(1000)]" "" "pathogenic (recessive)" "" "0000580141" "1" "90" "4" "" "" "" "" "00006" "RFC1_000011" "g.39350043_39350099AAGGG[(700)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(700)]" "" "pathogenic (recessive)" "" "0000580142" "1" "90" "4" "" "" "" "" "00006" "RFC1_000002" "g.39350043_39350099AAGGG[(880)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(880)]" "" "pathogenic (recessive)" "" "0000580143" "1" "90" "4" "" "" "" "" "00006" "RFC1_000002" "g.39350043_39350099AAGGG[(880)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(880)]" "" "pathogenic (recessive)" "" "0000580144" "1" "90" "4" "" "" "" "" "00006" "RFC1_000002" "g.39350043_39350099AAGGG[(880)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(880)]" "" "pathogenic (recessive)" "" "0000580145" "1" "90" "4" "" "" "" "" "00006" "RFC1_000010" "g.39350043_39350099AAGGG[(800)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(800)]" "" "pathogenic (recessive)" "" "0000580146" "1" "90" "4" "" "" "" "" "00006" "RFC1_000011" "g.39350043_39350099AAGGG[(700)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(700)]" "" "pathogenic (recessive)" "" "0000580147" "1" "90" "4" "" "" "" "" "00006" "RFC1_000006" "g.39350043_39350099AAGGG[(1000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(1000)]" "" "pathogenic (recessive)" "" "0000580148" "3" "90" "4" "" "" "" "" "00006" "RFC1_000012" "g.39350043_39350099AAGGG[(1150)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(1150)]" "" "pathogenic (recessive)" "" "0000580149" "1" "90" "4" "" "" "" "" "00006" "RFC1_000013" "g.39350043_39350099AAGGG[(1100)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(1100)]" "" "pathogenic (recessive)" "" "0000580150" "1" "90" "4" "" "" "" "" "00006" "RFC1_000006" "g.39350043_39350099AAGGG[(1000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(1000)]" "" "pathogenic (recessive)" "" "0000580151" "1" "90" "4" "" "" "" "" "00006" "RFC1_000010" "g.39350043_39350099AAGGG[(800)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(800)]" "" "pathogenic (recessive)" "" "0000580152" "1" "90" "4" "" "" "" "" "00006" "RFC1_000014" "g.39350043_39350099AAGGG[(900)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(900)]" "" "pathogenic (recessive)" "" "0000580153" "1" "90" "4" "" "" "" "" "00006" "RFC1_000013" "g.39350043_39350099AAGGG[(1100)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(1100)]" "" "pathogenic (recessive)" "" "0000580154" "1" "90" "4" "" "" "" "" "00006" "RFC1_000002" "g.39350043_39350099AAGGG[(880)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(880)]" "" "pathogenic (recessive)" "" "0000580155" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580156" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580157" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580158" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580159" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580160" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580161" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580162" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580163" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580164" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580165" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580166" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580167" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580168" "3" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580169" "1" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580170" "1" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580171" "1" "90" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "pathogenic (recessive)" "" "0000580172" "0" "30" "4" "" "" "" "" "00006" "RFC1_000015" "g.39350043_39350099AAAAG[(15_200)]" "79/608 chromosomes" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAAAG[(15_200)]" "" "benign" "" "0000580173" "0" "30" "4" "" "" "" "" "00006" "RFC1_000016" "g.39350043_39350099AAAGG[(40_1000)]" "48/608 chromosomes" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAAGG[(40_1000)]" "" "benign" "" "0000580174" "0" "30" "4" "" "" "" "" "00006" "RFC1_000004" "g.39350043_39350099AAGGG[(400_2000)]" "4/608 chromosomes" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400_2000)]" "" "benign" "" "0000580175" "2" "90" "4" "" "" "" "" "00006" "RFC1_000017" "g.39350043_39350099AAGGG[(1480)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(1480)]" "" "pathogenic (recessive)" "" "0000580176" "2" "90" "4" "" "" "" "" "00006" "RFC1_000017" "g.39350043_39350099AAGGG[(1480)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(1480)]" "" "pathogenic (recessive)" "" "0000580177" "2" "90" "4" "" "" "" "" "00006" "RFC1_000018" "g.39350043_39350099AAGGG[(1280)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(1280)]" "" "pathogenic (recessive)" "" "0000580178" "2" "90" "4" "" "" "" "" "00006" "RFC1_000003" "g.39350043_39350099AAGGG[(1200)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(1200)]" "" "pathogenic (recessive)" "" "0000580179" "2" "90" "4" "" "" "" "" "00006" "RFC1_000003" "g.39350043_39350099AAGGG[(1200)]" "" "{PMID:Cortese 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"" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(880)]" "" "pathogenic (recessive)" "" "0000580197" "2" "90" "4" "" "" "" "" "00006" "RFC1_000006" "g.39350043_39350099AAGGG[(1000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(1000)]" "" "pathogenic (recessive)" "" "0000580198" "2" "90" "4" "" "" "" "" "00006" "RFC1_000006" "g.39350043_39350099AAGGG[(1000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(1000)]" "" "pathogenic (recessive)" "" "0000580199" "2" "90" "4" "" "" "" "" "00006" "RFC1_000006" "g.39350043_39350099AAGGG[(1000)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(1000)]" "" "pathogenic (recessive)" "" "0000580200" "2" "90" "4" "" "" "" "" "00006" "RFC1_000021" "g.39350043_39350099AAGGG[(1300)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(1300)]" "" 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"RFC1_000003" "g.39350043_39350099AAGGG[(1200)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(1200)]" "" "pathogenic (recessive)" "" "0000580206" "2" "90" "4" "" "" "" "" "00006" "RFC1_000013" "g.39350043_39350099AAGGG[(1100)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(1100)]" "" "pathogenic (recessive)" "" "0000580207" "2" "90" "4" "" "" "" "" "00006" "RFC1_000013" "g.39350043_39350099AAGGG[(1100)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(1100)]" "" "pathogenic (recessive)" "" "0000580213" "3" "90" "4" "" "" "" "" "00006" "RFC1_000022" "g.39350043_39350099AAGGG[(50_?)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(50_?)]" "" "pathogenic (recessive)" "" "0000580214" "1" "90" "4" "" "" "" "" "00006" "RFC1_000022" "g.39350043_39350099AAGGG[(50_?)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(50_?)]" "" "pathogenic (recessive)" "" "0000580215" "3" "90" "4" "" "" "" "" "00006" "RFC1_000022" "g.39350043_39350099AAGGG[(50_?)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(50_?)]" "" "pathogenic (recessive)" "" "0000580216" "3" "90" "4" "" "" "" "" "00006" "RFC1_000022" "g.39350043_39350099AAGGG[(50_?)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(50_?)]" "" "pathogenic (recessive)" "" "0000580217" "3" "90" "4" "" "" "" "" "00006" "RFC1_000022" "g.39350043_39350099AAGGG[(50_?)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(50_?)]" "" "pathogenic (recessive)" "" "0000580218" "3" "90" "4" "" "" "" "" "00006" "RFC1_000022" "g.39350043_39350099AAGGG[(50_?)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" 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"0000580224" "3" "90" "4" "" "" "" "" "00006" "RFC1_000022" "g.39350043_39350099AAGGG[(50_?)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(50_?)]" "" "pathogenic (recessive)" "" "0000580226" "3" "90" "4" "" "" "" "" "00006" "RFC1_000022" "g.39350043_39350099AAGGG[(50_?)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(50_?)]" "" "pathogenic (recessive)" "" "0000580227" "3" "90" "4" "" "" "" "" "00006" "RFC1_000022" "g.39350043_39350099AAGGG[(50_?)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(50_?)]" "" "pathogenic (recessive)" "" "0000580229" "3" "90" "4" "" "" "" "" "00006" "RFC1_000022" "g.39350043_39350099AAGGG[(50_?)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(50_?)]" "" "pathogenic (recessive)" "" "0000580231" "3" "90" "4" "" "" "" "" "00006" "RFC1_000022" "g.39350043_39350099AAGGG[(50_?)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39348423_39348479AAGGG[(50_?)]" "" "pathogenic (recessive)" "" "0000580232" "3" "90" "4" "" "" "" "" "00006" "RFC1_000022" "g.39350043_39350099AAGGG[(50_?)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(50_?)]" "" "pathogenic (recessive)" "" "0000580233" "3" "90" "4" "" "" "" "" "00006" "RFC1_000022" "g.39350043_39350099AAGGG[(50_?)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(50_?)]" "" "pathogenic (recessive)" "" "0000580234" "3" "90" "4" "" "" "" "" "00006" "RFC1_000022" "g.39350043_39350099AAGGG[(50_?)]" "" "{PMID:Cortese 2019:30926972}" "" "" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(50_?)]" "" "pathogenic (recessive)" "" "0000733979" "0" "70" "4" "39304736" "39304736" "subst" "0.00040237" "04011" "RFC1_000025" "g.39304736G>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734014" "0" "70" "4" "39303988" "39303988" "subst" "0.000540655" "04011" "RFC1_000024" "g.39303988A>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734067" "0" "70" "4" "39303932" "39303932" "subst" "4.4702E-5" "04011" "RFC1_000023" "g.39303932G>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734209" "0" "70" "4" "39304736" "39304736" "subst" "0.00040237" "04011" "RFC1_000025" "g.39304736G>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734614" "0" "70" "4" "39329157" "39329157" "subst" "1.23841E-5" "04011" "RFC1_000028" "g.39329157C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734674" "0" "70" "4" "39310333" "39310333" "subst" "0" "04011" "RFC1_000026" "g.39310333C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735057" "0" "70" "4" "39314529" "39314529" "subst" "6.93464E-5" "04011" "RFC1_000027" "g.39314529C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735087" "0" "70" "4" "39304736" "39304736" "subst" "0.00040237" "04011" "RFC1_000025" "g.39304736G>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735547" "0" "70" "4" "39304736" "39304736" "subst" "0.00040237" "04011" "RFC1_000025" "g.39304736G>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000825069" "0" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Bergant 2021:33807868}" "" "RFC1 repeat expansion (comp het)" "RFC1 repeat expansion (compound heterozygous, bi-allelic (publication is vague, but probably two different expansions on two alleles)" "Germline" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000908976" "3" "90" "4" "0" "0" "" "0" "00006" "RFC1_000009" "g.39350043_39350099AAGGG[(400)]" "" "{PMID:Schoeberl 2022:34821988}" "" "AAGGG[~400]" "" "Germline" "" "" "0" "" "" "g.39348423_39348479AAGGG[(400)]" "" "pathogenic (recessive)" "" "0000986090" "2" "50" "4" "39350043" "39350099" "repeat" "" "00006" "RFC1_000029" "g.39350043_39350099AAGGG[(271_?)]" "" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}, {PMID:Steyaert 2025:40138663}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.39348423_39348479AAGGG[(271_?)]" "" "VUS" "" "0000986091" "1" "90" "4" "39350043" "39350099" "repeat" "0" "00006" "RFC1_000030" "g.39350043_39350099AAGGG[1181]" "" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}, {PMID:Steyaert 2025:40138663}" "" "AAGGG[1181]" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.39348423_39348479AAGGG[1181]" "" "pathogenic" "" "0001034550" "0" "50" "4" "39293414" "39293414" "subst" "4.46809E-5" "01804" "RFC1_000031" "g.39293414G>A" "" "" "" "RFC1(NM_002913.5):c.3013C>T (p.(Leu1005Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060792" "0" "70" "4" "39325010" "39325011" "del" "0" "00006" "RFC1_000032" "g.39325010_39325011del" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1, PM2; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.39323390_39323391del" "" "likely pathogenic" "ACMG" "0001068663" "2" "90" "4" "39313168" "39313168" "del" "" "00006" "RFC1_000033" "g.39313168del" "" "{DOI:Yepez 2026:10.64898/2026.02.10.26345954}" "" "" "" "Germline" "" "" "0" "" "" "g.39311548del" "" "pathogenic (recessive)" "" ## 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 RFC1 ## Count = 127 "{{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}}" "0000578040" "00017651" "00" "2192" "0" "2192" "0" "c.2192del" "r.(?)" 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"p.(Leu716Val)" "" "0000734014" "00017651" "50" "2445" "0" "2445" "0" "c.2445T>G" "r.(?)" "p.(His815Gln)" "" "0000734067" "00017651" "50" "2501" "0" "2501" "0" "c.2501C>G" "r.(?)" "p.(Ala834Gly)" "" "0000734209" "00017651" "50" "2146" "0" "2146" "0" "c.2146C>G" "r.(?)" "p.(Leu716Val)" "" "0000734614" "00017651" "50" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Ser184Asn)" "" "0000734674" "00017651" "50" "1808" "0" "1808" "0" "c.1808G>A" "r.(?)" "p.(Gly603Asp)" "" "0000735057" "00017651" "50" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "" "0000735087" "00017651" "50" "2146" "0" "2146" "0" "c.2146C>G" "r.(?)" "p.(Leu716Val)" "" "0000735547" "00017651" "50" "2146" "0" "2146" "0" "c.2146C>G" "r.(?)" "p.(Leu716Val)" "" "0000825069" "00017651" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000908976" "00017651" "90" "0" "0" "0" "0" "c.132+2869_132+2925CCCTT[(400)]" "r.?" "p.?" "2i" "0000986090" "00017651" "50" "132" "2869" "132" "2925" "c.132+2869_132+2925CCCTT[271]" "r.?" "p.?" "2i" "0000986091" "00017651" "90" "132" "2869" "132" "2925" "c.132+2869_132+2925CCCTT[1181]" "r.?" "p.?" "2i" "0001034550" "00017651" "50" "3013" "0" "3013" "0" "c.3013C>T" "r.(?)" "p.(Leu1005Phe)" "" "0001060792" "00017651" "70" "671" "0" "672" "0" "c.671_672del" "r.(?)" "p.(Glu224ValfsTer10)" "" "0001068663" "00017651" "90" "1386" "0" "1386" "0" "c.1386del" "r.(1386del)" "p.(Ala463GlnfsTer14)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 126 "{{screeningid}}" "{{variantid}}" "0000249291" "0000578040" "0000250770" "0000580116" "0000250770" "0000580175" "0000250771" "0000580117" "0000250771" "0000580176" "0000250772" "0000580118" "0000250772" "0000580177" "0000250773" "0000580119" "0000250773" "0000580178" "0000250774" "0000580120" "0000250774" "0000580179" "0000250775" "0000580121" "0000250776" "0000580122" "0000250776" "0000580180" "0000250777" "0000580123" "0000250777" "0000580181" "0000250778" "0000580124" "0000250779" "0000580125" "0000250779" "0000580182" "0000250780" "0000580126" "0000250780" "0000580183" "0000250781" "0000580127" "0000250781" "0000580184" "0000250782" "0000580128" "0000250782" "0000580185" "0000250783" "0000580129" "0000250783" "0000580186" "0000250784" "0000580130" "0000250784" "0000580187" "0000250785" "0000580131" "0000250786" "0000580132" "0000250787" "0000580133" "0000250787" "0000580188" "0000250788" "0000580134" "0000250788" "0000580189" "0000250789" "0000580135" "0000250789" "0000580190" "0000250790" "0000580136" "0000250790" "0000580191" "0000250791" "0000580137" "0000250792" "0000580138" "0000250792" "0000580192" "0000250793" "0000580139" "0000250793" "0000580193" "0000250794" "0000580140" "0000250794" "0000580194" "0000250795" "0000580141" "0000250795" "0000580195" "0000250796" "0000580142" "0000250796" "0000580196" "0000250797" "0000580143" "0000250797" "0000580197" "0000250798" "0000580144" "0000250798" "0000580198" "0000250799" "0000580145" "0000250799" "0000580199" "0000250800" "0000580146" "0000250800" "0000580200" "0000250801" "0000580147" "0000250801" "0000580201" "0000250802" "0000580148" "0000250803" "0000580149" "0000250803" "0000580202" "0000250804" "0000580150" "0000250804" "0000580203" "0000250805" "0000580151" "0000250805" "0000580204" "0000250806" "0000580152" "0000250806" "0000580205" "0000250807" "0000580153" "0000250807" "0000580206" "0000250808" "0000580154" "0000250808" "0000580207" "0000250809" "0000580155" "0000250810" "0000580156" "0000250811" "0000580157" "0000250812" "0000580158" "0000250813" "0000580159" "0000250814" "0000580160" "0000250815" "0000580161" "0000250816" "0000580162" "0000250817" "0000580163" "0000250818" "0000580164" "0000250819" "0000580165" "0000250820" "0000580166" "0000250821" "0000580167" "0000250822" "0000580168" "0000250823" "0000580169" "0000250824" "0000580170" "0000250825" "0000580171" "0000250826" "0000580172" "0000250827" "0000580173" "0000250828" "0000580174" "0000250831" "0000580213" "0000250832" "0000580214" "0000250833" "0000580215" "0000250834" "0000580216" "0000250835" "0000580217" "0000250836" "0000580218" "0000250837" "0000580219" "0000250838" "0000580220" "0000250839" "0000580221" "0000250840" "0000580222" "0000250842" "0000580224" "0000250844" "0000580226" "0000250845" "0000580227" "0000250847" "0000580229" "0000250849" "0000580231" "0000250850" "0000580232" "0000250851" "0000580233" "0000250852" "0000580234" "0000335525" "0000733979" "0000335535" "0000734014" "0000335552" "0000734067" "0000335596" "0000734209" "0000335764" "0000734614" "0000335777" "0000734674" "0000336082" "0000735057" "0000336089" "0000735087" "0000336272" "0000735547" "0000394158" "0000825069" "0000429473" "0000908976" "0000452112" "0000986090" "0000452112" "0000986091" "0000452112" "0001068663" "0000472344" "0001060792"