### LOVD-version 3000-260 ### 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" "2021-03-05 12:16:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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 = 5 "{{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" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "05640" "CANVAS" "ataxia, cerebellar, neuropathy, and vestibular areflexia syndrome (CANVAS)" "" "614575" "" "" "autosomal recessive" "00006" "2019-07-31 19:35:41" "" "" "05793" "virus, COVID-19" "virus, COVID-19, susceptibility to" "XLR" "" "" "" "" "00006" "2020-07-24 22:16:50" "" "" ## 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 = 87 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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" "Liu submitted, 2021" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334307" "" "" "" "1" "04011" "Liu submitted, 2021" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334324" "" "" "" "1" "04011" "Liu submitted, 2021" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334368" "" "" "" "1" "04011" "Liu submitted, 2021" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334535" "" "" "" "1" "04011" "Liu submitted, 2021" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334548" "" "" "" "1" "04011" "Liu submitted, 2021" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334853" "" "" "" "1" "04011" "Liu submitted, 2021" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334860" "" "" "" "1" "04011" "Liu submitted, 2021" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335043" "" "" "" "1" "04011" "Liu submitted, 2021" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 87 "{{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" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00318, 05356, 05640, 05793 ## Count = 84 "{{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" "" ## Screenings ## Do not remove or alter this header ## ## Count = 87 "{{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" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 77 "{{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" ## 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 = 120 "{{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" 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