### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACO2) # 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}}" "ACO2" "aconitase 2, mitochondrial" "22" "q13.2" "unknown" "NG_032143.1" "UD_132463270872" "{DOI:Guehlouz 2021:10.1038/s41597-021-00984-x}" "https://www.LOVD.nl/ACO2" "" "1" "118" "50" "100850" "1" "1" "1" "1" "Pathogenic variants of the aconitase 2 gene (ACO2; MIM# 100850) are responsible for a broad clinical spectrum involving optic nerve degeneration, ranging from isolated optic neuropathy with recessive or dominant inheritance, to complex neurodegenerative syndromes with recessive transmission.\r\nClassification of variants: please note that where there are several records of the same variant, the classification of that variant may be contradictory depending on the submitter’s conclusion. For the curator’s opinion on the classification of the variant, please view the SUMMARY record.\r\nEstablishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/ACO2_codingDNA.html" "1" "" "\r\n\"Mitodyn.org
\r\n\r\nA database from the MITOchondrial DYNamics variation portal \"Mitodyn.org\".
\r\n " "-1" "" "-1" "00001" "2012-03-09 00:00:00" "00091" "2021-08-06 12:02:54" "00000" "2023-07-07 10:10:56" ## 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}}" "00001969" "ACO2" "aconitase 2, mitochondrial" "001" "NM_001098.2" "" "NP_001089.1" "" "" "" "-22" "2719" "2343" "41865129" "41924993" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00211" "ENC" "encephalopathy (ENC)" "" "" "" "" "" "00006" "2013-09-24 21:07:28" "00006" "2015-12-07 07:11:25" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00787" "-" "encephalopathy, neonatal, severe" "XLR" "300673" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03679" "ICRD" "degeneration, cerebellar-retinal, infantile (ICRD)" "AR" "614559" "" "onset between ages 2m-6m truncal hypotonia, athetosis, seizures, ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration, profound psychomotor retardation only some achieving rolling, sitting, or recognition of family, brain MRI shows progressive cerebral and cerebellar degeneration" "autosomal recessive" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04201" "SCAR" "ataxia, spinocerebellar, autosomal recessive" "AR" "" "" "" "" "00006" "2015-02-20 09:53:55" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04225" "-" "neurodegeneration" "" "" "" "" "" "00006" "2015-03-13 20:14:29" "" "" "04248" "-" "encephalomyopathy, mitochondrial" "" "" "" "" "" "00006" "2015-05-03 13:18:08" "" "" "04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50" "04344" "OPA9" "atrophy, optic, type 9 (OPA-9)" "AR" "616289" "" "autosomal recessive" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05094" "-" "blindness" "" "" "" "" "" "00006" "2015-10-25 10:46:07" "" "" "05305" "RDEOA" "dystrophy, retinal, with/without extraocular anomalies (RDEOA)" "AR" "617175" "" "" "" "00006" "2017-07-14 18:34:11" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05684" "neuropathy, optic" "neuropathy, optic" "" "" "" "" "" "00006" "2020-01-10 11:57:41" "00091" "2021-02-19 09:59:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "ACO2" "00139" "ACO2" "03679" "ACO2" "04293" "ACO2" "04344" "ACO2" "05684" ## Individuals ## Do not remove or alter this header ## ## Count = 132 "{{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}}" "00073156" "" "" "" "1" "" "01400" "ATX372" "" "F" "" "France" "" "0" "" "" "" "" "00176985" "" "" "" "1" "" "02552" "" "" "F" "no" "Switzerland" "" "0" "" "" "" "69986" "00225621" "" "" "" "1" "" "02564" "{PMID:Bouwkamp 2018:29577077}" "4-generation family, 3 carriers, 2 affected" "M" "yes" "Israel" "" "0" "" "" "Arab-Bedouin descent" "IV-1" "00225632" "" "" "" "1" "" "02564" "{PMID:Bouwkamp2018:29577077}" "4-generation family, 4 carriers, 2 affected" "F" "yes" "Israel" "" "0" "" "" "Arab bedouin descent" "IV-3" "00225634" "" "" "" "1" "" "02564" "{PMID:Sadat 2016:26992325}" "1 affected" "M" "no" "" "" "0" "" "" "Mixed Afro-Caribbean and East indian ancestry" "" "00225635" "" "" "" "1" "" "02564" "{PMID:Srivastava 2017:28545339}" "1 affected" "M" "?" "" "" "0" "" "" "European" "" "00225645" "" "" "" "1" "" "02564" "{PMID:Kelman 2018:30118607}" "3-generation family, 1 carrier, 2 affected" "M" "no" "" "" "0" "" "" "" "Sibling 1" "00225646" "" "" "" "1" "" "02564" "{PMID:Kelman 2018:30118607}" "3-generation family, 1 carrier, 2 affected" "M" "no" "" "" "0" "" "" "" "Sibling 2" "00225647" "" "" "" "2" "" "02564" "{PMID:Metodiev 2014: 25351951}" "2 affected" "M" "?" "France" "" "0" "" "" "" "Patients 1 and 2" "00225648" "" "" "" "1" "" "02564" "{PMID:Metodiev 2014:25351951}" "2 affected" "M" "yes" "Algeria" "00y02m?" "0" "" "" "" "Patient 3" "00225649" "" "" "" "1" "" "02564" "{PMID:Metodiev 2014:25351951}" "2 affected" "M" "yes" "Algeria" "00y02m?" "0" "" "" "" "Patient 4" "00225650" "" "" "" "1" "" "02564" "{PMID:Metodiev 2014: 25351951}" "2-generation family, 1affected" "F" "no" "" "" "0" "" "" "" "Patient 5" "00226238" "" "" "" "1" "" "02564" "{PMID:Abela 2017:28463998 }" "2 affected" "F" "?" "Israel" "" "0" "" "" "Arab" "F3-P1" "00226239" "" "" "" "1" "" "02564" "{PMID:Abela2017:28463998}" "2 affected" "F" "?" "Israel" "" "0" "" "" "Arab" "F3-P2" "00226240" "" "" "" "1" "" "02564" "{PMID:Abela 2017:28463998}" "1 affected" "F" "?" "" "" "0" "" "" "white" "F4-P1" "00226241" "" "" "" "1" "" "02564" "{PMID:Spiegel 2012:22405087}" "5-generation family, 8 affected, 3 death" "M" "yes" "Israel" "" "0" "" "" "Arab muslim origin" "Family A IV-3" "00226242" "" "" "" "1" "" "02564" "{PMID:Spiegel 2012:22405087}" "5-generation family, 8 affected, 3 death" "F" "yes" "Israel" "" "0" "" "" "Arab muslim origin" "Family A IV-5" "00226243" "" "" "" "1" "" "02564" "{PMID:Spiegel 2012:22405087}" "5-generation family, 8 affected, 3 death" "F" "yes" "Israel" "" "0" "" "" "Arab muslim origin" "Family A V-2" "00226259" "" "" "" "1" "" "02564" "{PMID:Spiegel 2012:22405087}" "5-generation family, 8 affected, 3 death" "F" "yes" "Israel" "" "0" "" "" "Arab muslim origin" "Family A V-5" "00226260" "" "" "" "1" "" "02564" "{PMID:Spiegel 2012:22405087}" "5-generation family, 8 affected, 3 death" "M" "yes" "Israel" "" "0" "" "" "Arab muslim origin" "Family A V-7" "00226261" "" "" "" "1" "" "02564" "{PMID:Spiegel 2012:22405087}" "3-generation family, 3 affected" "F" "yes" "Israel" "" "0" "" "" "Arab muslim origin" "Family B III-1" "00226262" "" "" "" "1" "" "02564" "{PMID:Spiegel 2012:22405087}" "3-generation family, 3 affected" "F" "yes" "Israel" "" "0" "" "" "Arab muslim origin" "Family B III-2" "00226263" "" "" "" "1" "" "02564" "{PMID:Spiegel 2012:22405087}" "3-generation family, 3 affected" "F" "yes" "Israel" "" "0" "" "" "Arab muslim origin" "Family B III-3" "00239184" "" "" "" "1" "" "02564" "{PMID:Fukada 2019:31106992}" "2 carriers, 1 affected" "F" "no" "Japan" "05y" "0" "" "" "japanese" "Fukada2019 patient" "00275985" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "" "France" "" "0" "" "" "" "" "00275991" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "" "France" "" "0" "" "" "" "" "00275992" "" "" "" "3" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "3 generation, 3 carriers, 2 affected" "M" "?" "France" "" "0" "" "" "" "" "00275993" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "?" "France" "" "0" "" "" "" "" "00275994" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "?" "France" "" "0" "" "" "" "" "00275995" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "" "France" "" "0" "" "" "" "" "00275996" "" "" "" "2" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generation, 2 carriers, 1 affected" "M" "no" "France" "" "0" "" "" "" "" "00276060" "" "" "" "3" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "3 generation, 3 carriers, 2 affected" "M" "?" "France" "" "0" "" "" "" "" "00276061" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "France" "" "0" "" "" "" "" "00276062" "" "" "" "3" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "3 generations, 4 carriers, 2 affected" "M" "no" "France" "" "0" "" "" "" "" "00276063" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2 carriers, 1 affected" "M" "?" "France" "" "0" "" "" "" "" "00276064" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "France" "" "0" "" "" "" "" "00276065" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "France" "" "0" "" "" "" "" "00276066" "" "" "" "2" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2 carriers, 2 affected" "M" "?" "France" "" "0" "" "" "" "" "00276072" "" "" "" "2" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generation, 2 carriers, 1 affected" "F" "?" "France" "" "0" "" "" "" "" "00276121" "" "" "" "2" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2 carriers, 1 affected" "M" "?" "Pakistan" "" "0" "" "" "" "" "00276122" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "" "France" "" "0" "" "" "" "" "00276128" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "?" "France" "" "0" "" "" "" "" "00276130" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "" "France" "" "0" "" "" "" "" "00276131" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 1 carrier, 1 affected" "M" "?" "France" "" "0" "" "" "" "" "00276132" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "France" "" "0" "" "" "" "" "00276133" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "" "France" "" "0" "" "" "" "" "00276135" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "?" "France" "" "0" "" "" "" "" "00276136" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generation, 2 carriers, 2 affected (son affected)" "F" "?" "France" "" "0" "" "" "" "" "00276351" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "?" "Italy" "" "0" "" "" "" "" "00276352" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2 carriers, 2 affected" "F" "" "Italy" "" "0" "" "" "" "" "00276354" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "1 generation, 1 carrier, 1 affected\r\n(4 siblings don\'t affected and don\'t carry the variant)" "F" "?" "Germany" "" "0" "" "" "" "" "00276355" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "Germany" "" "0" "" "" "" "" "00276356" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "Germany" "" "0" "" "" "" "" "00281820" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "Germany" "" "0" "" "" "" "" "00281821" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "Germany" "" "0" "" "" "" "" "00281823" "" "" "" "3" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 3 carriers, 2 affected (paternal)" "M" "?" "France" "" "0" "" "" "" "" "00286161" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "?" "Germany" "" "0" "" "" "" "" "00286162" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "?" "Germany" "" "0" "" "" "" "" "00286175" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "?" "Germany" "" "0" "" "" "" "" "00286177" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "3 generations, 3 carriers, 3 affected" "M" "?" "Spain" "" "0" "" "" "" "" "00286182" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2 carriers, 2 affected" "M" "?" "Italy" "" "0" "" "" "" "" "00286183" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2 carriers, 1 affected" "M" "?" "Italy" "" "0" "" "" "" "" "00286184" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "?" "Italy" "" "0" "" "" "" "" "00286185" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "" "Germany" "" "0" "" "" "" "" "00286188" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "Germany" "" "0" "" "" "" "" "00286190" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "" "Germany" "" "0" "" "" "" "" "00286191" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "England" "" "0" "" "" "" "" "00286196" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 4 carriers, 1 affected" "F" "?" "Italy" "" "0" "" "" "" "" "00287171" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "" "France" "" "0" "" "" "" "" "00287172" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2 carriers, 2 affected" "M" "" "France" "" "0" "" "" "" "" "00287363" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "" "France" "" "0" "" "" "" "" "00287364" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "" "France" "" "0" "" "" "" "" "00287366" "" "" "" "2" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2 carriers (daughter), 1 affected" "F" "" "France" "" "0" "" "" "" "" "00287971" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "?" "France" "" "0" "" "" "" "" "00287972" "" "" "" "4" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "3 generations, 4 carriers, 2 affected" "M" "no" "France" "" "0" "" "" "" "" "00287973" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "France" "" "0" "" "" "" "" "00287974" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "France" "" "0" "" "" "" "" "00287975" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations,2 carriers, 2 affected" "M" "?" "France" "" "0" "" "" "" "" "00287976" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "France" "" "0" "" "" "" "" "00287979" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 3 carriers (Both non affected parents are heterozygous for each variant),1 affected" "M" "?" "France" "" "0" "" "" "" "" "00287980" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "1 generation, 3 carriers, 1 affected" "M" "?" "France" "" "0" "" "" "" "" "00287981" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 3 carriers (both non affected parents are heterozygous for each variant), 1 affected" "F" "?" "France" "" "0" "" "" "" "" "00287982" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "4 generations,1 carrier, 1 affected" "M" "no" "France" "" "0" "" "" "" "" "00288886" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "?" "France" "" "0" "" "" "" "" "00288887" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "Both non affected parents are HTZ for each variant" "F" "?" "France" "00y-02y" "0" "" "" "" "" "00288888" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "France" "" "0" "" "" "" "" "00288889" "" "" "" "5" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 5 carriers, 4 affected" "M" "?" "France" "" "0" "" "" "" "" "00288890" "" "" "" "2" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2 carriers, 1 affected" "M" "?" "France" "" "0" "" "" "" "" "00288891" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "Non affected mother are heterozygous for one variant" "F" "?" "Italy" "" "0" "" "" "" "" "00288892" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 3 carriers, 2 affected" "M" "?" "France" "" "0" "" "" "" "" "00288893" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "France" "" "0" "" "" "" "" "00288894" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "1 generation, 2 carriers, 2 affected" "M" "?" "France" "" "0" "" "" "" "" "00288895" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "?" "France" "" "0" "" "" "" "" "00288896" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "?" "France" "" "0" "" "" "" "" "00288897" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "M" "?" "France" "" "0" "" "" "" "" "00288898" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "father with optic disc pallor but NO DNA" "M" "?" "France" "" "0" "" "" "" "" "00288899" "" "" "" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "mother and daughter affected but no DNA" "M" "?" "France" "" "0" "" "" "" "" "00289017" "" "" "00275992" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "3 generations, 3 carriers, 2 affected" "M" "?" "France" "" "0" "" "" "" "" "00289018" "" "" "00275992" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "3 generations, 3 carriers, 2 affected ( son and grandson)" "F" "?" "France" "" "0" "" "" "" "" "00289019" "" "" "00275996" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "F" "?" "France" "" "0" "" "" "" "" "00289020" "" "" "00276060" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 3 carriers, 2 affected" "M" "?" "France" "" "0" "" "" "" "" "00289021" "" "" "00276060" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 3 carriers, 2 affected" "M" "?" "France" "" "0" "" "" "" "" "00289022" "" "" "00276062" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "3 generations, 4 carriers,2 affected" "F" "?" "France" "" "0" "" "" "" "" "00289023" "" "" "00276062" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "3 generations, 4 carriers, 2 affected" "M" "?" "France" "" "0" "" "" "" "" "00289024" "" "" "00288889" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 5 carriers, 4 affected" "M" "?" "France" "" "0" "" "" "" "" "00289025" "" "" "00288889" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 5 carriers, 4 affected" "M" "?" "France" "" "0" "" "" "" "" "00289027" "" "" "00288889" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 5 carriers, 4 affected" "M" "?" "France" "" "0" "" "" "" "" "00289028" "" "" "00288889" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 5 carriers, 4 affected" "F" "?" "France" "" "0" "" "" "" "" "00289029" "" "" "00276066" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2 carriers, 2 affected" "M" "?" "France" "" "0" "" "" "" "" "00289030" "" "" "00276121" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2carriers,1 affected (son)" "F" "?" "Pakistan" "" "0" "" "" "" "" "00289031" "" "" "00276072" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2 carriers,1 affected" "M" "?" "France" "" "0" "" "" "" "" "00289032" "" "" "00288890" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2 carriers, 1 affected (son)" "F" "" "France" "" "0" "" "" "" "" "00289033" "" "" "00287366" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2 carriers, 1 affected (mother)" "F" "?" "France" "" "0" "" "" "" "" "00289034" "" "" "00287972" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "3 generations, 4 carriers, 2 affected" "F" "?" "France" "" "0" "" "" "" "" "00289035" "" "" "00287972" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "3 generations, 4 carriers, 2 affected" "F" "?" "France" "" "0" "" "" "" "" "00289036" "" "" "00287972" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "3 generations, 4 carriers, 2 affected" "M" "?" "France" "" "0" "" "" "" "" "00289037" "" "" "" "2" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2 carriers, 1 affected" "M" "" "France" "" "0" "" "" "" "" "00289038" "" "" "00289037" "1" "" "03530" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "2 generations, 2 carriers, 1affected (son)" "M" "?" "France" "" "0" "" "" "" "" "00293135" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293136" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302655" "" "" "" "2" "" "03530" "{PMID:Gibson 2020:32449285}" "2-generation family, 3 carriers, 2 affected" "M" "no" "United States" "" "0" "" "" "Hispanic ancestry" "Subject 1" "00302656" "" "" "00302655" "1" "" "03530" "{PMID:Gibson 2020:32449285}" "2-generation family, 3 carriers, 2 affected" "F" "no" "United States" "" "0" "" "" "Hispanic ancestry" "Subject 2" "00302956" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat1" "00311421" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00320433" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00324516" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00326937" "" "" "" "1" "" "00091" "" "" "M" "" "(France)" "" "0" "" "" "" "" "00333767" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "961" "00334280" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "981" "00376456" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00387815" "" "" "" "4" "" "00006" "{PMID:Hu 2019:29302074}" "family, 4 affected individuals, second cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8700097" "00395558" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-0094" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 139 "{{individualid}}" "{{diseaseid}}" "00073156" "04201" "00176985" "00344" "00225621" "00325" "00225632" "00325" "00225634" "04248" "00225635" "05305" "00225645" "04293" "00225645" "05094" "00225645" "05684" "00225646" "04293" "00225646" "05094" "00225646" "05684" "00225647" "05094" "00225647" "05684" "00225648" "00211" "00225649" "00787" "00225650" "00787" "00226238" "00344" "00226239" "00344" "00226240" "00344" "00226241" "03679" "00226242" "03679" "00226243" "03679" "00226259" "03679" "00226260" "03679" "00226261" "03679" "00226262" "03679" "00226263" "03679" "00239184" "04225" "00275985" "05684" "00275991" "05684" "00275992" "05684" "00275993" "05684" "00275994" "05684" "00275995" "05684" "00275996" "05684" "00276060" "05684" "00276061" "05684" "00276062" "05684" "00276063" "05684" "00276064" "05684" "00276065" "05684" "00276066" "05684" "00276072" "05684" "00276121" "05684" "00276122" "05684" "00276128" "05684" "00276130" "05684" "00276131" "05684" "00276132" "05684" "00276133" "05684" "00276135" "05684" "00276136" "05684" "00276351" "05684" "00276352" "05684" "00276354" "05684" "00276355" "05684" "00276356" "05684" "00281820" "05684" "00281821" "05684" "00281823" "05684" "00286161" "05684" "00286162" "05684" "00286175" "05684" "00286177" "05684" "00286182" "05684" "00286183" "05684" "00286184" "05684" "00286185" "05684" "00286188" "05684" "00286190" "05684" "00286191" "05684" "00286196" "05684" "00287171" "05684" "00287172" "05684" "00287363" "05684" "00287364" "05684" "00287366" "05684" "00287971" "05684" "00287972" "05684" "00287973" "05684" "00287974" "05684" "00287975" "05684" "00287976" "05684" "00287979" "05684" "00287980" "05684" "00287981" "05684" "00287982" "05684" "00288886" "05684" "00288887" "05684" "00288888" "05684" "00288889" "05684" "00288890" "05684" "00288891" "05684" "00288892" "05684" "00288893" "05684" "00288894" "05684" "00288895" "05684" "00288896" "05684" "00288897" "05684" "00288898" "05684" "00288899" "05684" "00289017" "05684" "00289018" "05684" "00289019" "05684" "00289020" "05684" "00289021" "05684" "00289022" "05684" "00289023" "05684" "00289024" "05684" "00289025" "05684" "00289027" "05684" "00289028" "05684" "00289029" "05684" "00289030" "05684" "00289031" "05684" "00289032" "05684" "00289033" "05684" "00289034" "05684" "00289035" "05684" "00289036" "05684" "00289037" "05684" "00289038" "05684" "00293135" "00198" "00293136" "00198" "00302655" "04344" "00302655" "05684" "00302656" "04344" "00302656" "05684" "00302956" "05521" "00311421" "05684" "00320433" "00198" "00324516" "05684" "00326937" "05684" "00333767" "04214" "00334280" "04214" "00376456" "05684" "00387815" "00139" "00395558" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00211, 00325, 00344, 00787, 03679, 04201, 04214, 04225, 04248, 04293, 04344, 05094, 05305, 05521, 05684 ## Count = 131 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Vision/Other}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Histology}}" "{{Phenotype/Diagnosis/Criteria}}" "0000053275" "04201" "00073156" "01400" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000141809" "00841" "00176985" "02552" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000141820" "00344" "00176985" "02552" "Familial, autosomal recessive" "" "Muscular hypotonia of the trunk (HP:0008936); Spastic paraparesis (HP:0002313); Horizontal pendular nystagmus (HP:0007811); Esotropia (HP:0000565); Abnormality of ocular smooth pursuit (HP:0000617)" "00y07m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000170737" "00325" "00225621" "02564" "Familial, autosomal recessive" "" "Abnormality of eye movement (HP:0000496); Cerebellar atrophy (HP:0001272); Lower limb spasticity (HP:0002061); Ataxia (HP:0001251); Babinski sign (HP:0003487); Intellectual disability severe (HP:0010864); Lower limb muscle weakness (HP:0007340); Spastic paraplegia (HP:0001258); Hyperreflexia (HP:0001347); Dysarthria (HP:0001260); Seizures (HP:0001250); Microcephaly (HP:0000252); Failure to thrive (HP:0001508); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Inguinal hernia (HP:0000023); Recurrent otitis media (HP:0000403)" "00y03m" "" "" "" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "Complicated hereditary spastic paraplegia" "" "" "" "" "0000170744" "00325" "00225632" "02564" "Familial, autosomal recessive" "" "Microcephaly (HP:0000252); Cerebellar atrophy (HP:0001272); Lower limb spasticity (HP:0002061); Ataxia (HP:0001251); Babinski sign (HP:0003487); Intellectual disability, mild (HP:0001256); Spastic paraplegia (HP:0001258); Lower limb muscle weakness (HP:0007340); Hyperreflexia (HP:0001347); Impaired vibration sensation in the lower limbs (HP:0002166); Behavioral abnormality (HP:0000708); Developmental regression (HP:0002376); Horizontal nystagmus (HP:0000666); Encephalopathy(HP:0001298); Syndactyly (HP:0001159); Hyperlordosis (HP:0003307); Equinovarus deformity (HP:0008110); Limited pronation/supination of forearm (HP:0006394); Abnormality of the cerebral white matter (HP:0002500); Acute mental change" "01y" "" "" "" "" "" "14y" "Hereditary Spastic Paraplegia (ORPHA:685)" "" "" "" "" "" "" "" "" "" "" "" "SPG" "Lysosomal storage disease" "" "" "" "0000170745" "05305" "00225635" "02564" "Familial, autosomal recessive" "18y" "Ataxia (HP:0001251); Seizures (HP:0001250); Dysarthria (HP:0001260); Peripheral neuropathy (HP:0009830); Motor delay (HP:0001270); Short stature (HP:0004322); Bifid uvula (HP:0000193); Submucous cleft palate (HP:0011819); Optic atrophy (HP:0000648); Pigmentary retinopathy(HP:0000580); Blindness (HP:0000618); Delayed speech and language development (HP:0000750); Esotropia (HP:0000565); Nystagmus (HP:0000639); Muscular hypotonia of the trunk (HP:0008936); Appendicular hypertonia" "01y03m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ACO2-related disease" "" "" "" "" "0000170748" "05094" "00225645" "02564" "Familial, autosomal recessive" "" "Blindness (HP:0000618); Optic atrophy (HP:0000648); Horizontal nystagmus (HP:0000666); Asthma(HP:0002099); Optic disc pallor (HP:0000543); Abnormality of color vision (HP:0000551); Cystic spaces in the inner nuclear layer in OCT" "02y" "" "" "" "" "" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "Variants in the ACO2 gene" "" "" "" "" "0000170749" "05094" "00225646" "02564" "Familial, autosomal recessive" "" "Blindness (HP:0000618); Optic atrophy (HP:0000648); Horizontal nystagmus (HP:0000666); Asthma (HP:0002099); Optic disc pallor (HP:0000543); Abnormality of color vision (HP:0000551)" "08y" "" "" "" "" "" "09y" "" "" "" "" "" "" "" "" "" "" "" "" "Optic neuropthy associated with novel variant in the ACO2 gene" "" "" "" "" "0000170750" "05094" "00225647" "02564" "Familial, autosomal recessive" "" "Blindness (HP:0000618); Optic disc pallor (HP:0000543); Optic atrophy (HP:0000648); Dyschromatopsia (HP:0007641); Paracentral scotoma (HP:0030528)" "05y?" "" "" "" "" "" "20y?" "" "" "" "" "" "" "" "" "" "" "" "" "Optic atrophy" "" "" "" "" "0000170751" "00211" "00225648" "02564" "Familial, autosomal recessive" "" "Central apnoea (HP:0000961); Cyanosis (HP:0002871); Cerebral atrophy (HP:0002059); Bradycardia (HP:0001662); Metabolic acidosis (HP:0001942); Hyperglycemia (HP:0003074); Coma (HP:0001259); Bilateral oedema of optic disks" "00y00m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000170752" "00787" "00225649" "02564" "Familial, autosomal recessive" "" "Central apnoea (HP:0000961); Cerebral atrophy (HP:0002059); Bradycardia (HP:0001662); Abnormality of eye movement (HP:0000496); Optic disc pallor (HP:0000543); Muscular hypotonia of the trunk (HP:0008936); Vertigo/dizziness (HP:0002321)" "00y00m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000170753" "00787" "00225650" "02564" "Familial, autosomal recessive" "06y" "Abnormality of eye movement (HP:0000496); Cerebellar atrophy (HP:0001272); Bilateral Optic disc pallor (HP:0000543); Muscular hypotonia of the trunk (HP:0008936); Global developmental delay (HP:0001263); Nystagmus (HP:0000639); Poor eye contact (HP:0000817); Abnormal saccadic eye movements (HP:0000570)" "01y08m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000171365" "00344" "00226238" "02564" "Familial, autosomal recessive" "03y" "Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Intellectual disability (HP:0001249); Cerebellar atrophy (HP:0001272); Sensorineural hearing impairment (HP:0000407); Failure to thrive (HP:0001508); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of the cerebral white matter (HP:0002500)" "00y02m?" "" "" "" "" "" "" "" "ACO2" "" "" "" "" "" "" "" "" "" "" "EE" "" "" "" "" "0000171366" "00344" "00226239" "02564" "Familial, autosomal recessive" "" "Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Intellectual disability (HP:0001249); Cerebellar atrophy (HP:0001272); Failure to thrive (HP:0001508); Seizures (HP:0001250)" "00y02m?" "" "" "" "" "" "" "" "ACO2" "" "" "" "" "" "" "" "" "" "" "EE" "" "" "" "" "0000171367" "00344" "00226240" "02564" "Familial, autosomal recessive" "02y10m" "Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Intellectual disability (HP:0001249); Failure to thrive (HP:0001508); Seizures (HP:0001250); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Hypoplasia of the corpus callosum (HP:0002079); Cerebellar atrophy (HP:0001272)" "00y02m?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "EE" "" "" "" "" "0000171368" "03679" "00226241" "02564" "Familial, autosomal recessive" "18y" "Athetosis (HP:0002305); Areflexia (HP:0001284); Strabismus (HP:0000486); Optic atrophy (HP:0000648); Failure to thrive (HP:0001508); Seizures (HP:0001250); Ataxia (HP:0001251); Profound global developmental delay (HP:0012736); Vegetative state (HP:0031358)" "00y05m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "IRCD" "" "" "" "" "0000171369" "03679" "00226242" "02564" "Familial, autosomal recessive" "13y" "Abnormality of the cerebral white matter (HP:0002500); Athetosis (HP:0002305); Intellectual disability (HP:0001249); Ataxia (HP:0001251); Seizures (HP:0001250); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Retinal dystrophy severe (HP:0000556); Cerebellar atrophy (HP:0001272); Hyperreflexia (HP:0001347); Scoliosis (HP:0002650); Profound global developmental delay (HP:0012736)" "00y06m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "IRCD" "" "" "" "" "0000171371" "03679" "00226243" "02564" "Familial, autosomal recessive" "07y" "Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Profound global developmental delay (HP:0012736); Areflexia (HP:0001284); Nystagmus(HP:0000639); Optic atrophy (HP:0000648); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of the cerebral white matter (HP:0002500); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Sensorineural hearing loss (HP:0000407)" "00y02m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ICRD" "" "" "" "" "0000171372" "04248" "00225634" "02564" "Familial, autosomal recessive" "03y" "Ataxia (HP:0001251); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Profound global developmental delay (HP:0012736); Sensorineural hearing impairment (HP:0000407); Abnormal saccadic eye movements (HP:0000570); Abnormal facial shape/dysmorphic facial features (HP:0001999); Muscular hypotonia (HP:0001252); Myoclonus (HP:0001336)" "00y06m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000171385" "03679" "00226259" "02564" "Familial, autosomal recessive" "03y" "Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Profound global developmental delay (HP:0012736); Sensorineural hearing impairment (HP:0000407); Areflexia (HP:0001284); Hyporeflexia/Reduced tendon reflexes( HP:0001315); Strabismus (HP:0000486); Nystagmus (HP:0000639); Retinal dystrophy (HP:0000556); Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Intellectual disability (HP:0001249); Sensorineural hearing impairment (HP:0000407); Aplasia/Hypoplasia of the cerebellum(HP:0007360); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of the cerebral white matter (HP:0002500)" "00y04m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ICRD" "" "" "" "" "0000171386" "03679" "00226260" "02564" "Familial, autosomal recessive" "00y06m" "Strabismus (HP:0000486); Intellectual disability (HP:0001249); Ataxia (HP:0001251)" "00y03m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000171387" "03679" "00226261" "02564" "Familial, autosomal recessive" "09y" "Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Ataxia (HP:0001251); Profound global developmental delay (HP:0012736); Areflexia (HP:0001284); No eye contact (HP:0000817); Nystagmus (HP:0000639); Retinal dystrophy (HP:0000556); Optic atrophy (HP:0000648); ); Hypoplasia of the corpus callosum (HP:0002079)" "00y03m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "IRCD" "" "" "" "" "0000171388" "03679" "00226262" "02564" "Familial, autosomal recessive" "08y" "Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Abnormality of the cerebral white matter (HP:0002500); Hyporeflexia/Reduced tendon reflexes (HP:0001315); Profound global developmental delay ( HP:0012736); Retinal dystrophy (HP:0000556); Nystagmus (HP:0000639); Ataxia (HP:0001251); Muscular hypotonia(HP:0001252); Optic atrophy (HP:0000648); No eye contact (HP:0000817)" "00y05m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ICRD" "" "" "" "" "0000171389" "03679" "00226263" "02564" "Familial, autosomal recessive" "02y" "Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Cerebellar atrophy (HP:0001272); Profound global developmental delay ( HP:0012736); Areflexia (HP:0001284); Strabismus (HP:0000486); Nystagmus (HP:0000639); Retinal dystrophy (HP:0000556); Optic atrophy(HP:0000648); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Ataxia (HP:0001251); Muscular hypotonia (HP:0001252)" "00y05m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ICRD" "" "" "" "" "0000179406" "04225" "00239184" "02564" "Familial, autosomal recessive" "00y00m09d" "Seizures (HP:0001250); Ataxia (HP:0001251); Hypotonia (HP:0001290); Hyporeflexia of lower limbs (HP:0002600); Hyporeflexia of upper limbs (HP:0012391); Cerebral atrophy (HP :0002059); Cerebellar atrophy (HP:0001272); Abnormality of the cerebral white matter (HP:0002500); Hearing impairment (HP:0000365); Motor delay (HP:0001270); Nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "ACO2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210542" "05684" "00275985" "03530" "Familial, autosomal dominant" "25y" "" "" "" "?" "" "acuity reduced" "" "25y" "" "" "" "" "" "" "?" "OS RNFL two or more" "" "OS 0.2 LogMAR" "?" "?" "" "" "" "" "" "0000210546" "05684" "00275991" "03530" "Familial, autosomal dominant" "45y" "" "" "" "" "" "acuity reduced;field defect" "" "" "" "" "" "" "" "" "?" "OD RNFL ?;OS RNFL ?" "paracentral" "OD 0.2 LogMAR;OS 0.2 LogMAR" "?" "abnormal;tritanopia;OD tritanopia;OS tritanopia" "" "" "?" "" "" "0000210547" "05684" "00275992" "03530" "Familial, autosomal dominant" "08y" "Amblyopia (HP:0000646); Esodeviation (HP:0020045); Nystagmus (HP:0000639)" "00y" "Photophobia (HP:0000613)" "" "" "abnormal;acuity reduced;binocular vision;field defect;photophobia" "" "" "" "" "" "" "" "" "" "OD RNFL temporal;OS RNFL temporal" "OD central;OS paracentral" "OD 0.4 LogMAR;OS 0.9 LogMAR" "OD temporal;OS temporal" "OD ?;OS ?" "" "" "" "" "" "0000210548" "05684" "00275993" "03530" "Familial, autosomal dominant" "46y" "Amblyopia (HP:0000646)" "36y" "" "" "" "abnormal;acuity reduced;binocular vision;color vision;field defect" "" "" "" "" "" "" "" "" "" "OD RNFL temporal;OS RNFL temporal" "centrocecal;OD centrocecal;OS centrocecal" "OD abnormal;OD 0.3 LogMAR;OS 1.3 LogMAR" "OS peripapillary" "tritanopia;OD tritanopia;OS tritanopia" "" "" "?" "" "" "0000210549" "05684" "00275994" "03530" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210552" "05684" "00275996" "03530" "Familial, autosomal dominant" "38y" "Diabetes insipidus (HP:0000873); Optic atrophy (HP:0000648); Exercise intolerance (HP:0003546)" "32y" "" "nr" "" "abnormal;acuity reduced;field defect;impairment;loss;loss progressive" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OS RNFL two or more" "OS undefined" "OD 1.0 LogMAR;OS 1.0 LogMAR" "diffuse" "?" "" "" "nr" "" "" "0000210616" "05684" "00276060" "03530" "Familial, autosomal dominant" "04y" "" "02y" "" "nr" "" "nr" "" "04y" "" "" "" "" "" "" "nr" "OD RNFL ?" "" "" "OD diffuse;OS diffuse" "?" "" "" "" "" "" "0000210617" "05684" "00276061" "03530" "Familial, autosomal dominant" "50y" "Optic atrophy (HP:0000648)" "" "" "nr" "" "abnormal;acuity reduced" "" "50y" "" "" "" "" "" "" "" "" "" "OD abnormal;OD 1.3 LogMAR;OS 0.1 LogMAR;OD profound" "diffuse;OD diffuse" "?" "" "" "" "" "" "0000210618" "05684" "00275995" "03530" "Familial, autosomal dominant" "33y" "" "" "" "nr" "" "nr" "" "33y" "" "" "" "" "" "" "" "" "" "" "?" "?" "" "" "" "" "" "0000210619" "05684" "00276062" "03530" "Familial, autosomal dominant" "16y" "" "" "" "nr" "" "abnormal;acuity reduced" "" "11y" "" "" "" "" "" "" "" "OD RNFL temporal;OS RNFL temporal" "central;ring;OD central;OS central" "OD abnormal;OD 0.7 LogMAR;OS abnormal;OS 0.4 LogMAR;OD severe;OS moderate" "temporal;OD temporal;OS temporal" "protanopia;OD protanopia;OS protanopia" "" "" "" "" "" "0000210620" "05684" "00276063" "03530" "Familial, autosomal dominant" "30y" "Macular dystrophy (HP:0007754); Optic atrophy (HP:0000648)" "13y" "" "nr" "" "abnormal;acuity reduced;color vision" "" "30y" "" "" "" "" "" "" "nr" "OD RNFL two or more;OD GCL thinner;OS RNFL nasal;OS GCL thinner" "central;OD central;OS central" "OD abnormal;OD 1.0 LogMAR;OS abnormal;OS 0.3 LogMAR" "OS diffuse" "abnormal;dyschromatopsia;OD dyschromatopsia" "" "" "nr" "" "" "0000210622" "05684" "00276064" "03530" "Familial, autosomal dominant" "21y" "Optic atrophy (HP:0000648)" "09y" "" "nr" "" "abnormal;acuity reduced;blurred vision;color vision;field defect;loss progressive" "" "" "Blurred vision (HP:0000622)" "" "" "" "" "" "nr" "OD RNFL two or more;OS RNFL two or more" "central;OD central;OS central" "OD abnormal;OD 0.7 LogMAR;OS abnormal;OS 0.3 LogMAR" "temporal grey" "abnormal;dyschromatopsia" "" "" "nr" "" "" "0000210665" "05684" "00276065" "03530" "Familial, autosomal dominant" "30y" "" "19y" "" "nr" "" "abnormal;acuity reduced" "" "30y" "" "" "" "" "" "" "nr" "OD RNFL temporal;OS RNFL temporal" "centrocecal;OD centrocecal;OS centrocecal" "OD abnormal;OD 0.2 LogMAR;OS abnormal;OS 0.2 LogMAR;OD moderate;OS moderate" "temporal;OD temporal" "?" "" "" "nr" "" "" "0000210666" "05684" "00276066" "03530" "Familial, autosomal dominant" "29y" "" "" "" "nr" "" "acuity reduced;field defect" "" "25y" "" "" "" "" "" "" "nr" "OD RNFL temporal;OS RNFL temporal" "OD undefined;OS undefined" "OD normal;OS abnormal;OS 0.1 LogMAR" "temporal;OD temporal;OS temporal" "normal" "" "" "nr" "" "" "0000210672" "05684" "00276072" "03530" "Familial, autosomal dominant" "30y" "" "03y" "" "nr" "" "abnormal;acuity reduced;binocular vision;color vision;field defect;loss" "" "" "" "" "" "" "" "" "nr" "" "OS centrocecal" "OD abnormal;OD 0.8 LogMAR;OS abnormal;OS 0.6 LogMAR;OD severe;OS severe" "" "abnormal" "" "" "nr" "" "" "0000210708" "05684" "00276121" "03530" "Familial, autosomal dominant" "16y" "Abnormal retinal morphology on macular OCT (HP:0030612)" "" "" "nr" "" "abnormal;acuity reduced;impairment" "" "13y" "" "" "" "" "" "" "nr" "OD RNFL temporal;OS RNFL temporal" "OD Goldmann;OS Goldmann" "OD abnormal;OD 0.5 LogMAR;OS abnormal;OS 0.7 LogMAR" "temporal" "abnormal;protanopia;OD protanopia" "" "" "nr" "" "" "0000210709" "05684" "00276122" "03530" "Familial, autosomal dominant" "21y" "Optic atrophy (HP:0000648)" "09y" "" "nr" "" "abnormal;acuity reduced;color vision;field defect;impairment;loss" "" "09y" "" "" "" "" "" "" "nr" "OD RNFL temporal;OD RNFL inferior;OS RNFL temporal;OS RNFL inferior" "centrocecal;OD centrocecal;OS centrocecal" "OD abnormal;OD 0.7 LogMAR;OS abnormal;OS 0.7 LogMAR" "" "abnormal;OD tritanopia" "" "" "nr" "" "" "0000210715" "05684" "00276128" "03530" "Familial, autosomal dominant" "58y" "High myopia (HP:0011003); Optic atrophy (HP:0000648)" "" "" "nr" "" "abnormal;acuity reduced" "" "" "" "" "" "" "" "" "" "OD RNFL normal;OS RNFL normal" "central;OD central;OS central" "OD abnormal;OD 0.2 LogMAR;OS abnormal;OS 0.4 LogMAR" "pseudopapilledema" "normal" "" "" "nr" "" "" "0000210720" "05684" "00276130" "03530" "Familial, autosomal dominant" "33y" "Optic atrophy (HP:0000648)" "" "" "nr" "" "abnormal;acuity reduced;color vision;field defect" "" "15y" "" "" "" "" "" "" "nr" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "central;OD central;OS central" "OD abnormal;OD 0.7 LogMAR;OS abnormal;OS 1.0 LogMAR;OD severe;OS severe" "" "abnormal;dyschromatopsia;OD dyschromatopsia" "" "" "nr" "" "" "0000210721" "05684" "00276131" "03530" "Familial, autosomal dominant" "50y" "" "36y" "" "nr" "" "abnormal;acuity reduced;field defect;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL temporal;OD RNFL inferior;OD GCL thinner;OS RNFL temporal;OS RNFL inferior;OS GCL thinner" "centrocecal;OD centrocecal;OS centrocecal" "OD abnormal;OD 0.2 LogMAR;OS abnormal;OS 0.4 LogMAR" "temporal;OD temporal" "abnormal;dyschromatopsia;OD dyschromatopsia" "" "" "nr" "" "" "0000210722" "05684" "00276132" "03530" "Familial, autosomal dominant" "73y" "" "" "" "nr" "" "nr" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OS RNFL ?" "" "" "?" "?" "" "" "nr" "" "" "0000210723" "05684" "00276133" "03530" "Familial, autosomal dominant" "57y" "" "" "" "nr" "" "nr" "" "" "" "" "" "" "" "" "?" "OD RNFL ?;OS GCL ?" "" "" "?" "?" "" "" "?" "" "" "0000210725" "05684" "00276135" "03530" "Familial, autosomal dominant" "64y" "" "42y" "" "nr" "" "abnormal;acuity reduced;color vision;field defect;impairment" "" "42y" "" "" "" "" "" "" "nr" "OS RNFL ?" "centrocecal;OD centrocecal;OS centrocecal" "OD abnormal;OD 1.0 LogMAR;OS abnormal;OS 1.0 LogMAR" "?" "abnormal;dyschromatopsia;OD dyschromatopsia" "" "" "nr" "" "" "0000210726" "05684" "00276136" "03530" "Familial, autosomal dominant" "28y" "Optic atrophy (HP:0000648)" "03y" "" "nr" "" "abnormal;acuity reduced;color vision;field defect;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "central;OD central;OS central" "OD abnormal;OD 1.0 LogMAR;OS abnormal;OS 1.0 LogMAR" "hypoplasia OD" "abnormal;dyschromatopsia;OD dyschromatopsia" "" "" "nr" "" "" "0000210935" "05684" "00276351" "03530" "Familial, autosomal dominant" "28y" "Optic atrophy (HP:0000648)" "" "" "nr" "" "abnormal;acuity reduced;field defect;impairment;loss;loss progressive" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "central;OD central;OS central" "OD abnormal;OD 1.0 LogMAR;OS abnormal;OS 1.0 LogMAR;OD severe;OS severe" "" "abnormal;dyschromatopsia;OD dyschromatopsia;OS dyschromatopsia" "" "" "nr" "" "" "0000210937" "05684" "00276352" "03530" "Familial, autosomal dominant" "29y" "Congenital nystagmus (HP:0006934); Exotropia (HP:0000577); Migraine (HP:0002076); Scotoma (HP:0000575); Oculus dexter superonasal scotoma" "26y" "" "nr" "" "abnormal;acuity reduced;binocular vision;color vision;field defect;impairment;loss" "" "26y" "" "" "" "" "" "" "nr" "OD RNFL ?;OD GCL ?" "OD undefined" "OD abnormal;OD 1.3 LogMAR;OS abnormal;OS light perception w/o projection;OD profound;OS profound" "septo-optic dysplasia;temporal;OD temporal;OS temporal" "abnormal;dyschromatopsia" "" "" "nr" "" "" "0000210938" "05684" "00276354" "03530" "Familial, autosomal dominant" "59y" "" "" "" "nr" "" "abnormal;acuity reduced;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OD GCL ?" "" "OD abnormal;OD 0.7 LogMAR;OS abnormal;OS 0.5 LogMAR" "?" "?" "" "" "nr" "" "" "0000210939" "05684" "00276355" "03530" "Familial, autosomal dominant" "24y" "" "" "" "nr" "" "nr" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OD GCL ?" "" "" "?" "?" "" "" "nr" "" "" "0000210940" "05684" "00276356" "03530" "Familial, autosomal dominant" "41y" "" "10y?" "" "nr" "" "abnormal;acuity reduced;field defect;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OD GCL ?" "central;OD central;OS central" "OD abnormal;OD 0.4 LogMAR;OS abnormal;OS 0.5 LogMAR" "?" "?" "" "" "nr" "" "" "0000216396" "05684" "00281820" "03530" "Familial, autosomal dominant" "38y" "" "" "" "nr" "" "abnormal;acuity reduced;field defect" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OS RNFL ?" "centrocecal;OD centrocecal;OS centrocecal" "OD abnormal;OD 0.1 LogMAR;OS abnormal;OS 0.1 LogMAR" "?" "dyschromatopsia" "" "" "nr" "" "" "0000216397" "05684" "00281821" "03530" "Familial, autosomal dominant" "34y" "" "" "" "nr" "" "nr" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OS RNFL ?" "" "" "?" "?" "" "" "nr" "" "" "0000216399" "05684" "00281823" "03530" "Familial, autosomal dominant" "04y" "" "02y" "" "normal" "" "nr" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OS RNFL ?" "" "" "diffuse" "?" "" "" "" "" "" "0000220026" "05684" "00286161" "03530" "Familial, autosomal dominant" "56y" "" "" "" "nr" "" "abnormal" "" "" "" "" "" "" "" "" "" "OD RNFL ?;OD GCL ?" "central" "" "?" "abnormal;protanopia;OD protanopia" "" "" "nr" "" "" "0000220027" "05684" "00286162" "03530" "Familial, autosomal dominant" "33y" "" "06y" "" "nr" "" "abnormal;acuity reduced;field defect;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OD GCL ?" "pericentral;OD paracentral;OS paracentral" "OD abnormal;OD 1.1 LogMAR;OS abnormal;OS 1.1 LogMAR;OD profound;OS profound" "?" "?" "" "" "nr" "" "" "0000220034" "05684" "00286175" "03530" "Familial, autosomal dominant" "44y" "" "" "" "hearing loss" "" "nr" "" "" "" "" "" "" "" "" "" "OD GCL ?" "" "" "" "?" "" "" "?" "" "" "0000220036" "05684" "00286177" "03530" "Familial, autosomal dominant" "22y" "" "02y" "" "nr" "" "abnormal;acuity reduced;field defect;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL two or more;OS RNFL two or more" "centrocecal;OD centrocecal;OS centrocecal" "OD abnormal;OD 0.8 LogMAR;OS abnormal;OS 1.0 LogMAR" "?" "?" "" "" "nr" "" "" "0000220041" "05684" "00286182" "03530" "Familial, autosomal dominant" "32y" "" "07y" "" "nr" "" "abnormal;acuity reduced;loss progressive;loss progressive slow" "" "" "" "" "" "" "" "" "nr" "OD RNFL two or more;OS RNFL two or more" "central;OD central;OS central" "OD abnormal;OD 0.7 LogMAR;OS abnormal;OS 0.8 LogMAR" "temporal;OD temporal" "dyschromatopsia" "" "" "nr" "" "" "0000220042" "05684" "00286183" "03530" "Familial, autosomal dominant" "25y" "Ptosis (HP:0000508)" "12y" "" "nr" "" "abnormal;acuity reduced;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL temporal;OD GCL thinner;OS RNFL temporal;OS GCL thinner" "centrocecal;OD central;OS centrocecal" "OD abnormal;OD 0.4 LogMAR;OS abnormal;OS 0.1 LogMAR;OD severe;OS moderate" "OD increased cup-to-disc ratio (HP:0012796);OS increased cup-to-disc ratio (HP:0012796);temporal;OD temporal" "abnormal" "" "" "nr" "" "" "0000220043" "05684" "00286184" "03530" "Familial, autosomal dominant" "61y" "Glaucoma (HP:0000501)" "" "" "nr" "" "abnormal;acuity reduced;loss progressive;loss progressive slow" "" "" "" "" "" "" "" "" "nr" "OD RNFL two or more;OD GCL thinner;OS RNFL temporal;OS GCL thinner" "central;OD central;OS central" "OD abnormal;OD 0.5 LogMAR;OS abnormal;OS 0.1 LogMAR" "septo-optic dysplasia;OD increased cup-to-disc ratio (HP:0012796);temporal;OD temporal" "abnormal;dyschromatopsia" "" "" "nr" "" "" "0000220044" "05684" "00286185" "03530" "Familial, autosomal dominant" "41y" "" "" "" "" "" "abnormal;acuity reduced" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OS RNFL ?" "central" "OD abnormal;OD 1.3 LogMAR;OS abnormal;OS 1.2 LogMAR;OD profound;OS profound" "?" "abnormal;protanopia" "" "" "nr" "" "" "0000220045" "05684" "00286188" "03530" "Familial, autosomal dominant" "40y" "Abnormal macular morphology (HP:0001103)" "07y" "" "nr" "" "abnormal;acuity reduced;loss;loss nonprogressive" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OS RNFL ?" "" "OS 0.9 LogMAR;OD profound;OS severe" "?" "abnormal;tritanopia" "" "" "nr" "" "" "0000220046" "05684" "00286190" "03530" "Familial, autosomal dominant" "15y" "" "" "" "nr" "" "abnormal;acuity reduced;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OD GCL ?" "central" "OD abnormal;OD 2.0 LogMAR;OS abnormal;OS 2.0 LogMAR;OD profound;OS profound" "?" "normal" "" "" "nr" "" "" "0000220052" "05684" "00286191" "03530" "Familial, autosomal recessive" "53y" "Optic atrophy (HP:0000648)" "02y" "" "normal" "" "abnormal;acuity reduced;color vision;field defect;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OD GCL ?" "" "OD abnormal;OD 2.0 LogMAR;OS abnormal;OS 3.0 LogMAR;OD profound;OS profound" "?" "abnormal;dyschromatopsia" "" "" "nr" "" "" "0000220053" "05684" "00286196" "03530" "Familial, autosomal recessive" "32y" "Cystoid macular degeneration (HP:0008028)" "" "" "nr" "" "abnormal;acuity reduced;color vision;field defect;impairment;loss;loss progressive" "" "" "" "" "" "" "" "" "nr" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "central;OD central;OS central" "OD abnormal;OD 0.6 LogMAR;OS abnormal;OS 0.6 LogMAR;OD severe;OS severe" "temporal" "abnormal;dyschromatopsia" "" "" "nr" "" "" "0000220906" "05684" "00287171" "03530" "Familial, autosomal dominant" "20y" "Abnormal macular morphology (HP:0001103); Mycrocyst" "03y" "" "nr" "" "abnormal;acuity reduced;field defect;loss;loss progressive" "" "" "Progressive visual loss (HP:0000529)" "" "" "" "" "" "nr" "OD RNFL temporal;OS RNFL temporal" "central" "OD abnormal;OD 1.0 LogMAR;OS abnormal;OS 1.1 LogMAR;OD profound;OS profound" "" "?" "" "" "nr" "" "" "0000220907" "05684" "00287172" "03530" "Familial, autosomal dominant" "16y" "" "" "" "nr" "" "abnormal;acuity reduced;field defect;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL two or more;OS RNFL two or more" "central;OD central;OS central" "OD abnormal;OD 1.1 LogMAR;OS abnormal;OS 1.0 LogMAR;OD profound;OS profound" "diffuse" "abnormal;OD dyschromatopsia" "" "" "nr" "" "" "0000221098" "05684" "00287363" "03530" "Familial, autosomal dominant" "08y" "" "04y" "" "nr" "" "abnormal;acuity reduced;color vision" "" "" "" "" "" "" "" "" "nr" "OD RNFL two or more;OS RNFL two or more" "normal" "OD abnormal;OD 1.1 LogMAR;OS abnormal;OS 0.8 LogMAR;OD profound;OS severe" "" "abnormal;tritanopia;OD protanopia" "" "" "alcohol: none" "" "" "0000221099" "05684" "00287364" "03530" "Familial, autosomal dominant" "30y" "Mitral valve prolapse (HP:0001634); Abnormal macular morphology (HP:0001103); Renal cortical microcysts (HP:0004734)" "" "" "nr" "" "abnormal;acuity reduced;color vision;field defect;loss progressive" "" "" "" "" "" "" "" "" "MRI;normal" "OS RNFL temporal" "central;OD central;OS central" "OD abnormal;OD 1.0 LogMAR;OS abnormal;OS 0.9 LogMAR" "" "abnormal" "" "" "nr" "" "" "0000221101" "05684" "00287366" "03530" "Familial, autosomal dominant" "56y" "Increased blood pressure (HP:0032263); Hyperglycemia (HP:0003074); Abdominal obesity (HP:0012743); Abnormal circulating cholesterol concentration (HP:0003107); Metabolic syndrome" "" "" "nr" "" "abnormal;acuity reduced;impairment;loss" "" "54y" "" "" "" "" "" "" "nr" "OD RNFL temporal;OS RNFL temporal" "" "OD abnormal;OD 3.0 LogMAR;OS abnormal;OS 1.0 LogMAR;OD profound;OS profound" "temporal" "?" "" "" "nr" "" "" "0000221706" "05684" "00287971" "03530" "Familial, autosomal dominant" "26y" "" "04y" "" "nr" "" "abnormal;acuity reduced;color vision;field defect" "" "" "" "" "" "" "" "" "nr" "OD RNFL two or more;OS RNFL two or more" "paracentral;OD paracentral;OS central" "OD abnormal;OD 1.0 LogMAR;OS abnormal;OS 0.9 LogMAR;OD profound;OS profound" "OS diffuse" "abnormal;protanopia" "" "" "nr" "" "" "0000221707" "05684" "00287972" "03530" "Familial, autosomal dominant" "36y" "Optic atrophy (HP:0000648)" "16y" "" "normal" "" "abnormal;acuity reduced;color vision;field defect;impairment" "" "" "" "" "" "" "" "" "nr" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "OS central" "OD abnormal;OD 1.0 LogMAR;OS abnormal;OS 0.5 LogMAR;OD profound;OS severe" "temporal" "abnormal;tritanopia" "" "" "nr" "" "" "0000221708" "05684" "00287973" "03530" "Familial, autosomal dominant" "71y" "" "63y" "" "abnormal;hearing loss" "" "abnormal;acuity reduced" "" "" "" "" "" "" "" "" "nr" "OD RNFL two or more;OS RNFL two or more" "centrocecal" "OD abnormal;OD 0.3 LogMAR;OS normal" "OD diffuse" "normal" "" "" "nr" "" "" "0000221709" "05684" "00287974" "03530" "Familial, autosomal dominant" "30y" "Macular dystrophy (HP:0007754)" "" "" "nr" "" "abnormal;acuity reduced;binocular vision;color vision;field defect;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OS RNFL ?" "centrocecal;OD centrocecal;OS centrocecal" "OD abnormal;OD 0.9 LogMAR;OS abnormal;OS 1.2 LogMAR;OD profound;OS profound" "" "abnormal;OS tritanopia" "" "" "nr" "" "" "0000221710" "05684" "00287975" "03530" "Familial, autosomal dominant" "43y" "" "14y" "" "nr" "" "abnormal;acuity reduced;color vision;field defect;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL temporal;OS RNFL temporal" "paracentral;OD paracentral;OS paracentral" "OD abnormal;OD 0.8 LogMAR;OS abnormal;OS 0.8 LogMAR;OD severe;OS severe" "OD temporal" "abnormal;dyschromatopsia" "" "" "nr" "" "" "0000221711" "05684" "00287976" "03530" "Familial, autosomal dominant" "" "" "" "" "nr" "" "abnormal;acuity reduced;field defect;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "central" "OD abnormal;OD 2.0 LogMAR;OS abnormal;OS 1.3 LogMAR;OD profound;OS profound" "OD diffuse" "?" "" "" "nr" "" "" "0000221712" "05684" "00287979" "03530" "Familial, autosomal recessive" "30y" "Optic atrophy (HP:0000648); Seizures (HP:0001250); Memory impairment (HP:0002354)" "04y" "" "nr" "" "abnormal;acuity reduced;field defect;impairment" "" "" "" "" "" "" "" "" "MRI;normal" "OD RNFL ?;OD GCL ?" "central" "OD abnormal;OD 1.1 LogMAR;OS abnormal;OS 1.1 LogMAR;OD profound;OS profound" "OD diffuse" "?" "" "" "?" "" "" "0000221713" "05684" "00287980" "03530" "Familial, autosomal dominant" "59y" "Optic atrophy (HP:0000648)" "" "" "nr" "" "abnormal;acuity reduced;field defect;impairment;loss;loss progressive;loss progressive slow" "" "" "" "" "" "" "" "" "nr" "OD RNFL temporal;OS RNFL temporal" "centrocecal" "OD abnormal;OD 1.3 LogMAR;OS abnormal;OS 1.3 LogMAR;OD profound;OS profound" "temporal" "?" "" "" "nr" "" "" "0000221714" "05684" "00287981" "03530" "Familial, autosomal recessive" "" "" "" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "?" "" "" "" "" "" "0000221715" "05684" "00287982" "03530" "Familial, autosomal recessive" "61y" "Nystagmus (HP:0000639); Ataxia (HP:0001251); Abnormal cerebellum morphology (HP:0001317); Peripheral neuropathy (HP:0009830); Dysarthria (HP:0001260)" "30y" "" "nr" "" "abnormal;acuity reduced;field defect;impairment;loss;loss progressive" "" "" "" "" "" "" "" "" "cerebellar atrophy (HP:0001272)" "OD RNFL ?;OD GCL ?;OS RNFL ?;OS GCL ?" "" "OD abnormal;OD 1.0 LogMAR;OS abnormal;OS 1.0 LogMAR;OD profound;OS profound" "OS diffuse" "?" "" "" "nr" "" "" "0000222581" "05684" "00288886" "03530" "Familial, autosomal dominant" "19y" "" "15y" "" "nr" "" "abnormal;acuity reduced;impairment;loss;loss progressive" "" "" "" "" "" "" "" "" "nr" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "OD superotemporal;OS superotemporal" "OD abnormal;OD 1.3 LogMAR;OS abnormal;OS 1.3 LogMAR;OD profound;OS profound" "OD diffuse" "?" "" "" "nr" "" "" "0000222582" "05684" "00288887" "03530" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000222583" "05684" "00288888" "03530" "Familial, autosomal recessive" "21y" "" "11y" "" "" "" "abnormal;acuity reduced;color vision;field defect;impairment;loss;photophobia" "" "" "" "" "" "" "" "" "nr" "OD RNFL temporal;OD RNFL inferior;OD RNFL two or more;OD GCL thinner;OS RNFL temporal;OS RNFL inferior;OS RNFL two or more;OS GCL thinner" "OD paracentral;OS central" "OD abnormal;OD 0.1 LogMAR;OS abnormal;OS 0.4 LogMAR;OD moderate;OS severe" "OS temporal" "abnormal;dyschromatopsia" "" "" "nr" "" "" "0000222584" "05684" "00288889" "03530" "Familial, autosomal recessive" "06y" "" "" "" "" "" "nr" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OS RNFL ?" "" "" "" "?" "" "" "" "" "" "0000222585" "05684" "00288890" "03530" "Familial, autosomal recessive" "07y" "" "06y" "" "nr" "" "abnormal;acuity reduced;field defect;impairment" "" "" "" "" "" "" "" "" "nr" "OD RNFL temporal;OS RNFL temporal" "central;OD central;OS central" "OD abnormal;OD 0.6 LogMAR;OS abnormal;OS 1.1 LogMAR;OD severe;OS profound" "OS temporal" "OD ?" "" "" "nr" "" "" "0000222586" "05684" "00288891" "03530" "Familial, autosomal recessive" "36y" "Anorexia (HP:0002039); Migraine (HP:0002076)" "03y" "" "nr" "" "abnormal;acuity reduced;color vision;impairment;loss;loss progressive" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OS GCL ?" "" "OD abnormal;OD light perception w/o projection;OS abnormal;OS 2.0 LogMAR;OD profound;OS profound" "peripapillary;OD diffuse" "abnormal;dyschromatopsia" "" "" "?" "" "" "0000222588" "05684" "00288892" "03530" "Familial, autosomal dominant" "64y" "Optic atrophy (HP:0000648)" "40y" "" "nr" "" "abnormal" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OS RNFL ?" "" "" "OD diffuse" "?" "" "" "nr" "" "" "0000222589" "05684" "00288893" "03530" "Familial, autosomal dominant" "52y" "" "" "" "nr" "" "normal" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OD GCL ?" "" "OD normal;OS normal;OD excellent;OS excellent" "OD increased cup-to-disc ratio (HP:0012796);OS increased cup-to-disc ratio (HP:0012796);diffuse" "?" "" "" "nr" "" "" "0000222590" "05684" "00288894" "03530" "Familial, autosomal dominant" "38y" "Optic atrophy (HP:0000648)" "" "" "nr" "" "nr" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OS GCL ?" "" "" "OD diffuse" "?" "" "" "nr" "" "" "0000222591" "05684" "00288895" "03530" "Familial, autosomal recessive" "50y" "Amblyopia (HP:0000646); Peripheral neuropathy (HP:0009830); Hypertension (HP:0000822)" "43y" "" "nr" "" "abnormal;acuity reduced;impairment;loss;loss progressive" "" "" "" "" "" "" "" "" "nr" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "" "OD abnormal;OD 1.2 LogMAR;OS abnormal;OS 2.0 LogMAR;OD profound;OS profound" "OS diffuse" "?" "" "" "alcohol: none" "" "" "0000222592" "05684" "00288896" "03530" "Familial, autosomal dominant" "67y" "Peripheral neuropathy (HP:0009830); Ataxia (HP:0001251); Spastic paraparesis (HP:0002313)" "" "" "abnormal;hearing loss;sensorineural bilateral" "" "normal" "" "" "" "" "" "" "" "" "nr" "OD RNFL two or more;OS RNFL two or more" "normal" "OD normal;OS normal" "OS optic disc" "?" "" "" "" "" "" "0000222593" "05684" "00288897" "03530" "Familial, autosomal recessive" "15y" "" "" "" "nr" "" "abnormal;acuity reduced;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL temporal;OD GCL thinner;OS RNFL temporal;OS GCL thinner" "central;OD central;OS central" "OD abnormal;OD 0.7 LogMAR;OS abnormal;OS 0.7 LogMAR;OD severe;OS severe" "OS temporal" "?" "" "" "nr" "" "" "0000222594" "05684" "00288898" "03530" "Familial, autosomal dominant" "09y" "Amblyopia (HP:0000646)" "04y" "" "nr" "" "abnormal;acuity reduced;color vision;impairment;loss;loss progressive" "" "" "" "" "" "" "" "" "nr" "OD RNFL temporal;OS RNFL temporal" "central;OD central;OS centrocecal" "OD abnormal;OD 0.1 LogMAR;OS abnormal;OS 0.1 LogMAR;OD moderate;OS moderate" "OS temporal" "abnormal;OD tritanopia" "" "" "alcohol: none" "" "" "0000222595" "05684" "00288899" "03530" "Familial, autosomal recessive" "45y" "Retrobulbar optic neuritis (HP:0100654); Scoliosis (HP:0002650)" "27y" "" "nr" "" "abnormal;acuity reduced;field defect;impairment" "" "" "" "" "" "" "" "" "optic nerve abnormality (HP:0000587)" "OD RNFL ?;OS RNFL ?" "" "OD abnormal;OD 2.0 LogMAR;OS normal;OD profound" "" "OS ?" "" "" "nr" "" "" "0000222652" "05684" "00289017" "03530" "Familial, autosomal dominant" "35y" "" "" "" "nr" "" "nr" "" "" "" "" "" "" "" "" "nr" "" "" "" "?" "?" "" "" "nr" "" "" "0000222653" "05684" "00289018" "03530" "Familial, autosomal dominant" "52y" "" "" "" "normal" "" "normal" "" "" "" "" "" "" "" "" "no" "OD RNFL normal;OD GCL normal;OS RNFL normal;OS GCL normal" "normal" "OD normal;OS normal" "optic disc" "normal" "" "" "alcohol: none" "" "" "0000222654" "05684" "00289019" "03530" "Familial, autosomal dominant" "62y" "Hypertension (HP:0000822); Renal insufficiency (HP:0000083)" "" "" "normal" "" "normal" "" "" "" "" "" "" "" "" "nr" "OD RNFL normal;OD GCL normal;OS RNFL normal;OS GCL normal" "normal" "OD normal;OS normal" "optic disc" "normal" "" "" "alcohol: none" "" "" "0000222655" "05684" "00289020" "03530" "Familial, autosomal dominant" "65y" "" "06y" "" "normal" "" "abnormal;acuity reduced;color vision;field defect;impairment;loss;loss progressive" "" "" "" "" "" "" "" "" "nr" "OD RNFL superior;OD RNFL inferior;OD RNFL two or more;OD GCL thinner;OS RNFL superior;OS RNFL inferior;OS RNFL two or more;OS GCL thinner" "centrocecal;OD 0 to -4;OD centrocecal;OS 0 to -4;OS centrocecal" "OD abnormal;OD 1.0 LogMAR;OS abnormal;OS 0.8 LogMAR;OD profound;OS severe" "diffuse" "abnormal;tritanopia" "" "" "alcohol: none" "" "" "0000222656" "05684" "00289021" "03530" "Familial, autosomal dominant" "39y" "" "" "" "normal" "" "normal" "" "" "" "" "" "" "" "" "" "OD RNFL normal;OD GCL normal;OS RNFL normal;OS GCL normal" "normal" "OD normal;OS normal" "OD optic disc" "normal" "" "" "alcohol: none" "" "" "0000222657" "05684" "00289022" "03530" "Familial, autosomal dominant" "08y" "" "" "" "normal" "" "normal;field defect" "" "" "" "" "" "" "" "" "nr" "OD RNFL temporal;OD GCL thinner;OS RNFL temporal;OS GCL thinner" "centrocecal;OD centrocecal;OS centrocecal" "OD normal;OS normal;OD excellent;OS excellent" "temporal" "?" "" "" "" "" "" "0000222658" "05684" "00289023" "03530" "Familial, autosomal dominant" "82y" "" "" "" "nr" "" "nr" "" "" "" "" "" "" "" "" "nr" "OD RNFL normal;OS RNFL normal" "normal" "OD normal;OS normal" "optic disc" "normal" "" "" "nr" "" "" "0000222659" "05684" "00289024" "03530" "Familial, autosomal recessive" "12y" "" "" "" "normal" "" "abnormal;acuity reduced;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OD GCL ?" "" "OD abnormal;OD 0.7 LogMAR;OS abnormal;OS 0.9 LogMAR;OD severe;OS profound" "OD temporal;OS diffuse" "?" "" "" "alcohol: none" "" "" "0000222660" "05684" "00289025" "03530" "Familial, autosomal recessive" "09y" "" "" "" "normal" "" "abnormal;acuity reduced;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OS RNFL ?" "" "OD abnormal;OD 0.4 LogMAR;OS abnormal;OS 0.7 LogMAR;OD severe;OS severe" "diffuse;temporal" "?" "" "" "alcohol: none" "" "" "0000222661" "05684" "00289027" "03530" "Familial, autosomal recessive" "31y" "" "" "" "nr" "" "abnormal;acuity reduced;impairment;loss" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OS RNFL ?" "" "OD normal;OS abnormal;OS 0.1 LogMAR;OD excellent;OS moderate" "OS temporal" "?" "" "" "alcohol: none" "" "" "0000222662" "05684" "00289028" "03530" "Familial, autosomal recessive" "34y" "" "" "" "normal" "" "normal" "" "" "" "" "" "" "" "" "nr" "OD RNFL normal;OD GCL normal;OS RNFL normal" "normal" "OD normal;OS normal;OD excellent;OS excellent" "optic disc;OD optic disc" "normal" "" "" "alcohol: none" "" "" "0000222663" "05684" "00289029" "03530" "Familial, autosomal dominant" "52y" "Optic atrophy (HP:0000648)" "07y" "" "normal" "" "abnormal;acuity reduced;impairment;loss" "" "" "Visual loss (HP:0000572); Optic atrophy (HP:0000648)" "" "" "" "" "" "nr" "OD RNFL ?;OD GCL ?;OS RNFL ?;OS GCL ?" "" "OD abnormal;OD 1.3 LogMAR;OS abnormal;OS 2.0 LogMAR;OD profound;OS profound" "temporal;OS diffuse" "abnormal;protanopia" "" "" "alcohol: none" "" "" "0000222664" "05684" "00289030" "03530" "Familial, autosomal dominant" "47y" "" "" "" "normal" "" "normal" "" "" "" "" "" "" "" "" "" "OD RNFL normal;OD GCL normal;OS RNFL normal;OS GCL normal" "normal" "OD normal;OS normal;OD excellent;OS excellent" "optic disc" "normal" "" "" "alcohol: none" "" "" "0000222665" "05684" "00289031" "03530" "Familial, autosomal dominant" "60y" "" "" "" "normal" "" "normal" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OD GCL ?;OS RNFL ?;OS GCL ?" "normal" "OD normal;OS normal" "optic disc" "normal" "" "" "alcohol: none" "" "" "0000222666" "05684" "00289032" "03530" "Familial, autosomal recessive" "38y" "" "" "" "normal" "" "normal" "" "" "" "" "" "" "" "" "nr" "OD RNFL normal;OD GCL ?;OS RNFL normal;OS GCL ?" "normal" "OD normal;OS normal" "optic disc" "normal" "" "" "alcohol: none" "" "" "0000222667" "05684" "00289033" "03530" "Familial, autosomal dominant" "34y" "" "" "" "normal" "" "normal" "" "" "" "" "" "" "" "" "nr" "OS RNFL normal" "normal" "OD normal;OS normal" "optic disc" "normal" "" "" "alcohol: none" "" "" "0000222668" "05684" "00289034" "03530" "Familial, autosomal dominant" "41y" "" "" "" "normal" "" "normal" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OS RNFL ?" "normal" "OD normal;OS normal" "diffuse" "normal" "" "" "alcohol: none" "" "" "0000222669" "05684" "00289035" "03530" "Familial, autosomal dominant" "63y" "" "" "" "normal" "" "normal" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OD GCL ?" "normal" "OD normal;OS normal" "optic disc" "normal" "" "" "alcohol: none" "" "" "0000222670" "05684" "00289036" "03530" "Familial, autosomal dominant" "15y" "Attention deficit (HP:0007018); Cognitive impairment (HP:0100543); Strabismus (HP:0000486)" "" "" "normal" "" "abnormal;acuity reduced;binocular vision;field defect;impairment;loss" "" "" "" "" "" "" "" "" "normal" "OD RNFL ?;OS RNFL ?" "" "OD abnormal;OD 0.5 LogMAR;OS abnormal;OS 1.3 LogMAR;OD severe;OS profound" "diffuse;temporal" "?" "" "" "alcohol: none" "" "" "0000222671" "05684" "00289037" "03530" "Familial, autosomal recessive" "11y" "" "" "" "nr" "" "nr" "" "" "" "" "" "" "" "" "nr" "OS RNFL ?" "" "" "diffuse;temporal" "?" "" "" "alcohol: none" "" "" "0000222672" "05684" "00289038" "03530" "Familial, autosomal recessive" "47y" "" "" "" "nr" "" "normal" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?;OD GCL ?;OS RNFL ?;OS GCL ?" "" "OD normal;OS normal" "OD optic disc" "?" "" "" "nr" "" "" "0000229736" "04344" "00302655" "03530" "Familial, autosomal recessive" "16y" "Strabismus (HP:0000486); Abnormality of vision (HP:0000504); Myopia (HP:0000545); Visual loss (HP:0000572); Exotropia (HP:0000577); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Tonsillitis (HP:0011110); Temporal optic disc pallor (HP:0012511); Abnormal best corrected visual acuity test (HP:0030534); Pituitary gland cyst (HP:0410278)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229737" "04344" "00302656" "03530" "Familial, autosomal recessive" "14y" "Astigmatism (HP:0000483); Visual impairment (HP:0000505); Myopia (HP:0000545); Color vision defect (HP:0000551); Visual loss (HP:0000572); Exotropia (HP:0000577); Amblyopia (HP:0000646); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Juvenile onset (HP:0003621); Hypoplasia of the optic tract (HP:0007096); Abnormality of optic chiasm morphology (HP:0025163); Abnormal best corrected visual acuity test (HP:0030534)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230039" "05521" "00302956" "00006" "Familial, autosomal recessive" "" "Epileptic encephalopathy (HP:0200134); Neonatal onset (HP:0003623); Seizure (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Seizures" "" "" "" "0000236667" "05684" "00311421" "00091" "Familial, autosomal recessive" "30y" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242409" "00198" "00320433" "01807" "Unknown" "" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243059" "05684" "00324516" "00091" "Isolated (sporadic)" "41y" "Optic atrophy (HP:0000648); Optic neuropathy HP:0001138; Moderately reduced visual acuity (HP:0030515)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000245401" "05684" "00326937" "00091" "Unknown" "22y" "Visual acuity test abnormality (HP:0030532); Progressive (HP:0003676)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000251951" "04214" "00333767" "00000" "Familial, autosomal dominant" "9y" "clinical category IIIC1a" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dominant optic atrophy" "" "" "" "0000252465" "04214" "00334280" "00000" "Familial, autosomal recessive" "10y" "clinical category IIIC2b" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndromic Optic Neuropathy with Hearing Loss" "" "" "" "0000271663" "05684" "00376456" "00091" "Unknown" "26y" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281383" "00139" "00387815" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly, epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "" "" "0000288756" "04214" "00395558" "00000" "Familial, autosomal recessive" "" "cataract, optic atrophy, photophobia, rod-cone dystrophy, hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, optic atrophy, cataracts, hearing impairment" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 132 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000073314" "00073156" "1" "01400" "01400" "2016-06-08 15:07:26" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000177875" "00176985" "1" "02552" "02552" "2018-08-14 15:17:21" "02552" "2018-08-15 14:05:14" "SEQ-NG-I" "DNA" "blood" "WES" "0000227315" "00225634" "1" "02564" "02564" "2019-03-05 11:08:16" "" "" "SEQ" "DNA" "blood" "" "0000227377" "00226263" "1" "02564" "02564" "2019-03-07 13:03:44" "" "" "SEQ-NG-S" "DNA" "" "" "0000227394" "00226262" "1" "02564" "02564" "2019-03-08 12:12:05" "" "" "SEQ-NG-S" "DNA" "" "" "0000227395" "00226261" "1" "02564" "02564" "2019-03-08 12:15:58" "" "" "SEQ-NG-S" "DNA" "" "" "0000227397" "00226260" "1" "02564" "02564" "2019-03-08 12:17:24" "" "" "SEQ-NG-S" "DNA" "" "" "0000227399" "00226259" "1" "02564" "02564" "2019-03-08 12:19:59" "" "" "SEQ-NG-S" "DNA" "" "" "0000227400" "00226243" "1" "02564" "02564" "2019-03-08 12:21:50" "" "" "SEQ-NG-S" "DNA" "" "" "0000227401" "00226242" "1" "02564" "02564" "2019-03-08 12:23:28" "" "" "SEQ-NG-S" "DNA" "" "" "0000227402" "00226241" "1" "02564" "02564" "2019-03-08 12:24:52" "" "" "SEQ-NG-S" "DNA" "" "" "0000227404" "00226240" "1" "02564" "02564" "2019-03-08 12:27:36" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "" "0000227421" "00226238" "1" "02564" "02564" "2019-03-08 13:39:23" "02564" "2019-03-08 13:43:26" "SEQ" "DNA" "peripheral blood" "" "0000227422" "00226239" "1" "02564" "02564" "2019-03-08 13:41:22" "" "" "SEQ" "DNA" "" "" "0000227423" "00225650" "1" "02564" "02564" "2019-03-08 13:47:30" "" "" "SEQ" "DNA" "" "" "0000227424" "00225649" "1" "02564" "02564" "2019-03-08 13:56:42" "" "" "SEQ" "DNA" "" "" "0000227425" "00225648" "1" "02564" "02564" "2019-03-08 14:03:18" "" "" "SEQ" "DNA" "" "" "0000227426" "00225647" "1" "02564" "02564" "2019-03-08 14:04:49" "" "" "SEQ" "DNA" "" "" "0000227429" "00225646" "1" "02564" "02564" "2019-03-08 14:14:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000227430" "00225645" "1" "02564" "02564" "2019-03-08 14:20:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000227431" "00225635" "1" "02564" "02564" "2019-03-08 14:23:08" "" "" "SEQ-NG-I" "DNA" "" "" "0000227432" "00225632" "1" "02564" "02564" "2019-03-08 14:28:50" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "" "0000227433" "00225621" "1" "02564" "02564" "2019-03-08 14:38:12" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "" "0000249956" "00239184" "1" "02564" "02564" "2019-07-29 16:04:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000277138" "00275985" "1" "03530" "03530" "2020-01-22 11:06:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000277139" "00275991" "1" "03530" "03530" "2020-01-22 11:39:13" "" "" "SEQ-NG" "DNA" "blood" "" "0000277140" "00275992" "1" "03530" "03530" "2020-01-22 12:42:07" "" "" "SEQ-NG" "DNA" "blood" "" "0000277141" "00275993" "1" "03530" "03530" "2020-01-22 21:07:08" "" "" "SEQ-NG" "DNA" "blood" "" "0000277142" "00275994" "1" "03530" "03530" "2020-01-22 21:13:46" "" "" "SEQ-NG" "DNA" "blood" "" "0000277143" "00275995" "1" "03530" "03530" "2020-01-22 21:23:06" "" "" "SEQ-NG" "DNA" "blood" "" "0000277145" "00275996" "1" "03530" "03530" "2020-01-22 22:38:31" "" "" "SEQ-NG" "DNA" "blood" "" "0000277207" "00276060" "1" "03530" "03530" "2020-01-24 11:21:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000277208" "00276061" "1" "03530" "03530" "2020-01-24 11:39:00" "" "" "SEQ-NG" "DNA" "blood" "" "0000277209" "00276062" "1" "03530" "03530" "2020-01-24 12:18:37" "" "" "SEQ-NG" "DNA" "blood" "" "0000277210" "00276063" "1" "03530" "03530" "2020-01-24 13:36:39" "" "" "SEQ-NG" "DNA" "blood" "" "0000277211" "00276064" "1" "03530" "03530" "2020-01-24 14:22:44" "" "" "SEQ-NG" "DNA" "blood" "" "0000277212" "00276065" "1" "03530" "03530" "2020-01-24 15:13:31" "" "" "SEQ-NG" "DNA" "blood" "" "0000277214" "00276066" "1" "03530" "03530" "2020-01-24 16:10:59" "" "" "SEQ-NG" "DNA" "blood" "" "0000277219" "00276072" "1" "03530" "03530" "2020-01-24 17:10:43" "" "" "SEQ-NG" "DNA" "blood" "" "0000277266" "00276121" "1" "03530" "03530" "2020-01-28 10:33:29" "" "" "SEQ-NG" "DNA" "blood" "" "0000277267" "00276122" "1" "03530" "03530" "2020-01-28 10:44:03" "" "" "SEQ-NG" "DNA" "" "" "0000277273" "00276128" "1" "03530" "03530" "2020-01-28 11:29:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000277276" "00276130" "1" "03530" "03530" "2020-01-28 14:17:18" "" "" "SEQ-NG" "DNA" "blood" "" "0000277277" "00276131" "1" "03530" "03530" "2020-01-28 14:50:32" "00091" "2020-04-22 08:57:57" "SEQ-NG" "DNA" "blood" "" "0000277279" "00276132" "1" "03530" "03530" "2020-01-28 14:59:57" "" "" "SEQ-NG" "DNA" "" "" "0000277280" "00276133" "1" "03530" "03530" "2020-01-28 15:04:07" "" "" "SEQ-NG" "DNA" "" "" "0000277282" "00276135" "1" "03530" "03530" "2020-01-28 15:42:01" "" "" "SEQ-NG" "DNA" "" "" "0000277283" "00276136" "1" "03530" "03530" "2020-01-28 15:53:45" "" "" "SEQ-NG" "DNA" "" "" "0000277497" "00276351" "1" "03530" "03530" "2020-01-31 15:13:26" "" "" "SEQ-NG" "DNA" "" "" "0000277499" "00276352" "1" "03530" "03530" "2020-01-31 16:14:51" "" "" "SEQ-NG" "DNA" "blood" "" "0000277500" "00276354" "1" "03530" "03530" "2020-01-31 16:24:28" "" "" "SEQ-NG" "DNA" "" "" "0000277501" "00276355" "1" "03530" "03530" "2020-01-31 16:29:13" "" "" "SEQ-NG" "DNA" "blood" "" "0000277502" "00276356" "1" "03530" "03530" "2020-01-31 16:37:27" "" "" "SEQ-NG" "DNA" "blood" "" "0000286975" "00281823" "1" "03530" "03530" "2020-02-07 10:36:30" "" "" "SEQ-NG" "DNA" "" "" "0000287319" "00281820" "1" "03530" "03530" "2020-02-09 18:56:28" "" "" "SEQ-NG" "DNA" "blood" "" "0000287320" "00281821" "1" "03530" "03530" "2020-02-09 18:59:11" "" "" "SEQ-NG" "DNA" "blood" "" "0000287322" "00286161" "1" "03530" "03530" "2020-02-09 19:18:25" "" "" "SEQ-NG" "DNA" "blood" "" "0000287323" "00286162" "1" "03530" "03530" "2020-02-09 19:35:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000287336" "00286175" "1" "03530" "03530" "2020-02-09 20:58:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000287338" "00286177" "1" "03530" "03530" "2020-02-09 21:09:21" "" "" "SEQ-NG" "DNA" "blood" "" "0000287344" "00286182" "1" "03530" "03530" "2020-02-10 09:34:27" "" "" "SEQ-NG" "DNA" "blood" "" "0000287345" "00286183" "1" "03530" "03530" "2020-02-10 09:44:10" "" "" "SEQ-NG" "DNA" "blood" "" "0000287346" "00286184" "1" "03530" "03530" "2020-02-10 09:56:08" "" "" "SEQ-NG" "DNA" "blood" "" "0000287347" "00286185" "1" "03530" "03530" "2020-02-10 10:13:53" "" "" "SEQ-NG" "DNA" "blood" "" "0000287350" "00286188" "1" "03530" "03530" "2020-02-10 10:46:21" "" "" "SEQ-NG" "DNA" "" "" "0000287352" "00286190" "1" "03530" "03530" "2020-02-10 11:26:04" "" "" "SEQ-NG" "DNA" "blood" "" "0000287357" "00286191" "1" "03530" "03530" "2020-02-10 11:40:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000287358" "00286196" "1" "03530" "03530" "2020-02-10 11:51:59" "" "" "SEQ-NG" "DNA" "blood" "" "0000288338" "00287171" "1" "03530" "03530" "2020-02-14 11:07:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000288339" "00287172" "1" "03530" "03530" "2020-02-14 11:20:06" "" "" "SEQ-NG" "DNA" "blood" "" "0000288530" "00287363" "1" "03530" "03530" "2020-02-14 11:41:52" "" "" "SEQ-NG" "DNA" "blood" "" "0000288531" "00287364" "1" "03530" "03530" "2020-02-14 11:51:31" "" "" "SEQ-NG" "DNA" "blood" "" "0000288533" "00287366" "1" "03530" "03530" "2020-02-14 12:06:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000289139" "00287971" "1" "03530" "03530" "2020-02-14 18:50:56" "" "" "SEQ-NG" "DNA" "blood" "" "0000289140" "00287972" "1" "03530" "03530" "2020-02-14 18:59:25" "" "" "SEQ-NG" "DNA" "blood" "" "0000289141" "00287973" "1" "03530" "03530" "2020-02-14 19:06:27" "" "" "SEQ-NG" "DNA" "blood" "" "0000289142" "00287974" "1" "03530" "03530" "2020-02-14 19:21:02" "" "" "SEQ-NG" "DNA" "blood" "" "0000289143" "00287975" "1" "03530" "03530" "2020-02-14 19:30:42" "" "" "SEQ-NG" "DNA" "blood" "" "0000289144" "00287976" "1" "03530" "03530" "2020-02-14 19:38:45" "" "" "SEQ-NG" "DNA" "blood" "" "0000289145" "00287979" "1" "03530" "03530" "2020-02-14 19:59:18" "" "" "SEQ-NG" "DNA" "blood" "" "0000289146" "00287980" "1" "03530" "03530" "2020-02-14 20:13:06" "" "" "SEQ-NG" "DNA" "blood" "" "0000289147" "00287981" "1" "03530" "03530" "2020-02-14 20:19:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000289148" "00287982" "1" "03530" "03530" "2020-02-14 20:41:45" "" "" "SEQ-NG" "DNA" "blood" "" "0000290054" "00288886" "1" "03530" "03530" "2020-02-24 16:57:44" "" "" "SEQ-NG" "DNA" "blood" "" "0000290055" "00288887" "1" "03530" "03530" "2020-02-24 17:09:25" "" "" "SEQ-NG" "DNA" "blood" "" "0000290056" "00288888" "1" "03530" "03530" "2020-02-24 17:30:39" "" "" "SEQ-NG" "DNA" "blood" "" "0000290057" "00288889" "1" "03530" "03530" "2020-02-24 17:41:37" "" "" "SEQ-NG" "DNA" "blood" "" "0000290058" "00288890" "1" "03530" "03530" "2020-02-24 18:07:38" "" "" "SEQ-NG" "DNA" "blood" "" "0000290059" "00288891" "1" "03530" "03530" "2020-02-24 18:44:35" "" "" "SEQ-NG" "DNA" "blood" "" "0000290060" "00288892" "1" "03530" "03530" "2020-02-24 20:04:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000290061" "00288893" "1" "03530" "03530" "2020-02-24 20:13:08" "" "" "SEQ-NG" "DNA" "blood" "" "0000290062" "00288894" "1" "03530" "03530" "2020-02-24 20:19:58" "" "" "SEQ-NG" "DNA" "blood" "" "0000290063" "00288895" "1" "03530" "03530" "2020-02-24 20:39:05" "" "" "SEQ-NG" "DNA" "blood" "" "0000290064" "00288896" "1" "03530" "03530" "2020-02-24 20:51:41" "" "" "SEQ-NG" "DNA" "blood" "" "0000290065" "00288897" "1" "03530" "03530" "2020-02-24 20:57:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000290066" "00288898" "1" "03530" "03530" "2020-02-24 21:10:06" "" "" "SEQ-NG" "DNA" "blood" "" "0000290067" "00288899" "1" "03530" "03530" "2020-02-24 21:29:00" "" "" "SEQ-NG" "DNA" "blood" "" "0000290186" "00289017" "1" "03530" "03530" "2020-02-25 10:19:52" "" "" "SEQ-NG" "DNA" "blood" "" "0000290187" "00289018" "1" "03530" "03530" "2020-02-25 11:22:04" "" "" "SEQ-NG" "DNA" "blood" "" "0000290188" "00289019" "1" "03530" "03530" "2020-02-25 12:13:45" "" "" "SEQ-NG" "DNA" "blood" "" "0000290189" "00289020" "1" "03530" "03530" "2020-02-25 12:33:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000290190" "00289021" "1" "03530" "03530" "2020-02-25 12:43:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000290191" "00289022" "1" "03530" "03530" "2020-02-25 12:56:27" "" "" "SEQ-NG" "DNA" "blood" "" "0000290192" "00289023" "1" "03530" "03530" "2020-02-25 13:18:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000290193" "00289024" "1" "03530" "03530" "2020-02-25 14:04:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000290194" "00289025" "1" "03530" "03530" "2020-02-25 14:11:36" "" "" "SEQ-NG" "DNA" "blood" "" "0000290196" "00289027" "1" "03530" "03530" "2020-02-25 14:39:11" "" "" "SEQ-NG" "DNA" "blood" "" "0000290197" "00289028" "1" "03530" "03530" "2020-02-25 14:48:49" "" "" "SEQ-NG" "DNA" "blood" "" "0000290198" "00289029" "1" "03530" "03530" "2020-02-25 15:04:29" "" "" "SEQ-NG" "DNA" "blood" "" "0000290199" "00289030" "1" "03530" "03530" "2020-02-25 15:34:54" "" "" "SEQ-NG" "DNA" "blood" "" "0000290200" "00289031" "1" "03530" "03530" "2020-02-25 15:41:25" "" "" "SEQ-NG" "DNA" "blood" "" "0000290201" "00289032" "1" "03530" "03530" "2020-02-25 15:49:48" "" "" "SEQ-NG" "DNA" "blood" "" "0000290202" "00289033" "1" "03530" "03530" "2020-02-25 15:54:45" "" "" "SEQ-NG" "DNA" "blood" "" "0000290203" "00289034" "1" "03530" "03530" "2020-02-25 16:03:09" "" "" "SEQ-NG" "DNA" "blood" "" "0000290204" "00289035" "1" "03530" "03530" "2020-02-25 16:08:25" "" "" "SEQ-NG" "DNA" "blood" "" "0000290205" "00289036" "1" "03530" "03530" "2020-02-25 16:16:54" "" "" "SEQ-NG" "DNA" "blood" "" "0000290206" "00289037" "1" "03530" "03530" "2020-02-25 16:21:46" "" "" "SEQ-NG" "DNA" "blood" "" "0000290207" "00289038" "1" "03530" "03530" "2020-02-25 16:28:07" "" "" "SEQ-NG" "DNA" "blood" "" "0000294303" "00293135" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294304" "00293136" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000303779" "00302655" "1" "03530" "03530" "2020-05-27 10:59:37" "" "" "SEQ-NG" "DNA" "blood" "" "0000303780" "00302656" "1" "03530" "03530" "2020-05-27 11:23:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000304081" "00302956" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000312591" "00311421" "1" "00091" "00091" "2020-09-25 10:01:58" "" "" "SEQ-NG" "DNA" "Blood" "" "0000321620" "00320433" "1" "01807" "01807" "2020-11-30 09:28:01" "" "" "SEQ" "DNA" "" "" "0000325707" "00324516" "1" "00091" "00091" "2020-12-16 14:56:43" "" "" "SEQ-NG" "DNA" "Blood" "" "0000328150" "00326937" "1" "00091" "00091" "2021-01-17 08:53:33" "" "" "SEQ-NG" "DNA" "" "" "0000334993" "00333767" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000335506" "00334280" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000377661" "00376456" "1" "00091" "00091" "2021-06-24 11:35:03" "" "" "SEQ-NG" "DNA" "" "" "0000389046" "00387815" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000396796" "00395558" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 127 "{{screeningid}}" "{{geneid}}" "0000073314" "ACO2" "0000227315" "ACO2" "0000227377" "ACO2" "0000227394" "ACO2" "0000227395" "ACO2" "0000227397" "ACO2" "0000227399" "ACO2" "0000227400" "ACO2" "0000227401" "ACO2" "0000227402" "ACO2" "0000227404" "ACO2" "0000227421" "ACO2" "0000227422" "ACO2" "0000227423" "ACO2" "0000227424" "ACO2" "0000227425" "ACO2" "0000227426" "ACO2" "0000227429" "ACO2" "0000227430" "ACO2" "0000227431" "ACO2" "0000227432" "ACO2" "0000227433" "ACO2" "0000249956" "ACO2" "0000277138" "ACO2" "0000277139" "ACO2" "0000277140" "ACO2" "0000277141" "ACO2" "0000277142" "ACO2" "0000277143" "ACO2" "0000277145" "ACO2" "0000277207" "ACO2" "0000277208" "ACO2" "0000277209" "ACO2" "0000277210" "ACO2" "0000277211" "ACO2" "0000277212" "ACO2" "0000277214" "ACO2" "0000277219" "ACO2" "0000277266" "ACO2" "0000277267" "ACO2" "0000277273" "ACO2" "0000277276" "ACO2" "0000277277" "ACO2" "0000277279" "ACO2" "0000277280" "ACO2" "0000277282" "ACO2" "0000277283" "ACO2" "0000277497" "ACO2" "0000277499" "ACO2" "0000277500" "ACO2" "0000277501" "ACO2" "0000277502" "ACO2" "0000286975" "ACO2" "0000287319" "ACO2" "0000287322" "ACO2" "0000287323" "ACO2" "0000287336" "ACO2" "0000287338" "ACO2" "0000287344" "ACO2" "0000287345" "ACO2" "0000287346" "ACO2" "0000287347" "ACO2" "0000287350" "ACO2" "0000287352" "ACO2" "0000287357" "ACO2" "0000287358" "ACO2" "0000288338" "ACO2" "0000288339" "ACO2" "0000288530" "ACO2" "0000288531" "ACO2" "0000288533" "ACO2" "0000289139" "ACO2" "0000289140" "ACO2" "0000289141" "ACO2" "0000289142" "ACO2" "0000289143" "ACO2" "0000289144" "ACO2" "0000289145" "ACO2" "0000289146" "ACO2" "0000289147" "ACO2" "0000289148" "ACO2" "0000290054" "ACO2" "0000290055" "ACO2" "0000290056" "ACO2" "0000290057" "ACO2" "0000290058" "ACO2" "0000290059" "ACO2" "0000290060" "ACO2" "0000290061" "ACO2" "0000290062" "ACO2" "0000290063" "ACO2" "0000290064" "ACO2" "0000290065" "ACO2" "0000290066" "ACO2" "0000290067" "ACO2" "0000290186" "ACO2" "0000290187" "ACO2" "0000290188" "ACO2" "0000290189" "ACO2" "0000290190" "ACO2" "0000290191" "ACO2" "0000290192" "ACO2" "0000290193" "ACO2" "0000290194" "ACO2" "0000290196" "ACO2" "0000290197" "ACO2" "0000290198" "ACO2" "0000290199" "ACO2" "0000290200" "ACO2" "0000290201" "ACO2" "0000290202" "ACO2" "0000290203" "ACO2" "0000290204" "ACO2" "0000290205" "ACO2" "0000290206" "ACO2" "0000290207" "ACO2" "0000303779" "ACO2" "0000303780" "ACO2" "0000304081" "ACO2" "0000312591" "ACO2" "0000325707" "ACO2" "0000328150" "ACO2" "0000334993" "ACO2" "0000335506" "ACO2" "0000377661" "ACO2" "0000389046" "ACO2" "0000396796" "ACO2" ## 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 = 359 "{{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}}" "0000116947" "3" "50" "22" "41911805" "41911805" "subst" "0.000588804" "01400" "ACO2_000002" "g.41911805G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41515801G>C" "" "VUS" "" "0000247705" "0" "10" "22" "41895765" "41895765" "subst" "0.000191124" "02330" "ACO2_000003" "g.41895765A>G" "" "" "" "ACO2(NM_001098.3):c.72A>G (p.S24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41499761A>G" "" "benign" "" "0000247713" "0" "70" "22" "41913529" "41913529" "subst" "0" "02330" "ACO2_000009" "g.41913529A>C" "" "" "" "ACO2(NM_001098.3):c.836-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41517525A>C" "" "likely pathogenic" "" "0000248733" "0" "10" "22" "41903813" "41903813" "subst" "0.332961" "02325" "ACO2_000004" "g.41903813A>C" "" "" "" "ACO2(NM_001098.3):c.192A>C (p.T64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41507809A>C" "" "benign" "" "0000257170" "0" "10" "22" "41924620" "41924620" "subst" "0.0000567247" "02330" "ACO2_000020" "g.41924620G>A" "" "" "" "ACO2(NM_001098.3):c.*3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41528616G>A" "" "benign" "" "0000257171" "0" "10" "22" "41919009" "41919009" "subst" "0.000436899" "02330" "ACO2_000014" "g.41919009C>T" "" "" "" "ACO2(NM_001098.3):c.1296+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41523005C>T" "" "benign" "" "0000257172" "0" "10" "22" "41920948" "41920948" "subst" "0.0000162442" "02330" "ACO2_000015" "g.41920948G>A" "" "" "" "ACO2(NM_001098.3):c.1581G>A (p.P527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41524944G>A" "" "benign" "" "0000257174" "0" "15" "22" "41903841" "41903841" "subst" "0.00369014" "02330" "ACO2_000005" "g.41903841C>G" "" "" "" "ACO2(NM_001098.3):c.220C>G (p.L74V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41507837C>G" "" "benign" "" "0000257176" "0" "10" "22" "41903852" "41903852" "subst" "0.000813392" "02330" "ACO2_000006" "g.41903852C>T" "" "" "" "ACO2(NM_001098.2):c.231C>T (p.P77=), ACO2(NM_001098.3):c.231C>T (p.P77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41507848C>T" "" "benign" "" "0000257177" "0" "10" "22" "41903903" "41903903" "subst" "0.000402478" "02330" "ACO2_000007" "g.41903903C>T" "" "" "" "ACO2(NM_001098.2):c.282C>T (p.D94=), ACO2(NM_001098.3):c.282C>T (p.D94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41507899C>T" "" "benign" "" "0000257178" "0" "10" "22" "41904072" "41904072" "subst" "0.000278326" "02330" "ACO2_000008" "g.41904072T>C" "" "" "" "ACO2(NM_001098.3):c.432+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41508068T>C" "" "benign" "" "0000258900" "0" "10" "22" "41914593" "41914593" "subst" "0.348805" "02325" "ACO2_000012" "g.41914593C>T" "" "" "" "ACO2(NM_001098.3):c.1032+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41518589C>T" "" "benign" "" "0000259610" "0" "50" "22" "41911805" "41911805" "subst" "0.000588804" "02325" "ACO2_000002" "g.41911805G>C" "" "" "" "ACO2(NM_001098.2):c.719G>C (p.G240A), ACO2(NM_001098.3):c.719G>C (p.G240A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41515801G>C" "" "VUS" "" "0000261782" "0" "50" "22" "41914522" "41914522" "subst" "0.0000040619" "01943" "ACO2_000010" "g.41914522G>T" "" "" "" "ACO2(NM_001098.2):c.978G>T (p.L326F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41518518G>T" "" "VUS" "" "0000294216" "0" "10" "22" "41923280" "41923280" "subst" "0.00172259" "02330" "ACO2_000017" "g.41923280C>T" "" "" "" "ACO2(NM_001098.3):c.1954-12C>T, POLR3H(NM_001018050.4):c.*2007G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41527276C>T" "" "benign" "" "0000294217" "0" "30" "22" "41924552" "41924552" "subst" "0.000277814" "02330" "ACO2_000019" "g.41924552G>A" "" "" "" "ACO2(NM_001098.3):c.2278G>A (p.E760K), POLR3H(NM_001018050.4):c.*735C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41528548G>A" "" "likely benign" "" "0000294218" "0" "10" "22" "41924539" "41924539" "subst" "0" "02330" "ACO2_000018" "g.41924539C>T" "" "" "" "ACO2(NM_001098.3):c.2265C>T (p.N755=), POLR3H(NM_001018050.4):c.*748G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41528535C>T" "" "benign" "" "0000305532" "0" "50" "22" "41864647" "41864647" "subst" "0" "01943" "PHF5A_000001" "g.41864647T>C" "" "" "" "PHF5A(NM_032758.4):c.11A>G (p.H4R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41468643T>C" "" "VUS" "" "0000329056" "0" "50" "22" "41918971" "41918971" "subst" "0" "01804" "ACO2_000013" "g.41918971A>G" "" "" "" "ACO2(NM_001098.2):c.1276A>G (p.(Thr426Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41522967A>G" "" "VUS" "" "0000329058" "0" "50" "22" "41926774" "41926774" "subst" "0" "01804" "POLR3H_000001" "g.41926774T>C" "" "" "" "POLR3H(NM_001018050.2):c.478A>G (p.(Thr160Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41530770T>C" "" "VUS" "" "0000400745" "11" "70" "22" "41922363" "41922363" "subst" "0" "02552" "ACO2_000021" "g.41922363G>A" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "" "0" "" "" "g.41526359G>A" "" "likely pathogenic (recessive)" "" "0000400746" "21" "70" "22" "41923386" "41923386" "subst" "0" "02552" "ACO2_000022" "g.41923386G>T" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "" "0" "" "" "g.41527382G>T" "" "likely pathogenic (recessive)" "" "0000464309" "0" "70" "22" "41923953" "41923953" "subst" "0.000036665" "02564" "ACO2_000028" "g.41923953C>T" "" "{PMID:Sadat 2016:26992325}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41527949C>T" "" "likely pathogenic (recessive)" "" "0000464310" "0" "70" "22" "41922323" "41922323" "subst" "0.00000407034" "02564" "ACO2_000026" "g.41922323C>T" "" "{PMID:Sadat 2016:26992325}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41526319C>T" "" "likely pathogenic (recessive)" "" "0000465590" "3" "70" "22" "41903957" "41903957" "subst" "0" "02564" "ACO2_000001" "g.41903957C>G" "" "{PMID:Spiegel 2012:22405087}" "" "" "Not in 256 control chromosomes" "Germline" "yes" "" "0" "" "" "g.41507953C>G" "" "pathogenic (recessive)" "" "0000465633" "3" "70" "22" "41903957" "41903957" "subst" "0" "02564" "ACO2_000001" "g.41903957C>G" "" "{PMID:Spiegel 2012:22405087}" "" "" "Not in 256 control chromosomes" "Germline" "yes" "" "0" "" "" "g.41507953C>G" "" "pathogenic (recessive)" "" "0000465634" "3" "70" "22" "41903957" "41903957" "subst" "0" "02564" "ACO2_000001" "g.41903957C>G" "" "{PMID:Spiegel 2012:22405087}" "" "" "Not in 256 control chromosomes" "Germline" "yes" "" "0" "" "" "g.41507953C>G" "" "pathogenic (recessive)" "" "0000465636" "3" "70" "22" "41903957" "41903957" "subst" "0" "02564" "ACO2_000001" "g.41903957C>G" "" "{PMID:Spiegel 2012:22405087}" "" "" "Not in 256 control chromosomes" "Germline" "yes" "" "0" "" "" "g.41507953C>G" "" "pathogenic (recessive)" "" "0000465638" "3" "70" "22" "41903957" "41903957" "subst" "0" "02564" "ACO2_000001" "g.41903957C>G" "" "{PMID:Spiegel 2012:22405087}" "" "" "Not in 256 control chromosomes" "Germline" "yes" "" "0" "" "" "g.41507953C>G" "" "pathogenic (recessive)" "" "0000465639" "3" "70" "22" "41903957" "41903957" "subst" "0" "02564" "ACO2_000001" "g.41903957C>G" "" "{PMID:Spiegel 2012:22405087}" "" "" "Not in 256 control chromosomes" "Germline" "yes" "" "0" "" "" "g.41507953C>G" "" "pathogenic (recessive)" "" "0000465640" "3" "70" "22" "41903957" "41903957" "subst" "0" "02564" "ACO2_000001" "g.41903957C>G" "" "{PMID:Spiegel 2012:22405087}" "" "" "Not in 256 control chromosomes" "Germline" "yes" "" "0" "" "" "g.41507953C>G" "" "pathogenic (recessive)" "" "0000465641" "3" "70" "22" "41903957" "41903957" "subst" "0" "02564" "ACO2_000001" "g.41903957C>G" "" "{PMID:Spiegel 2012:22405087}" "" "" "Not in 256 control chromosomes" "Germline" "yes" "" "0" "" "" "g.41507953C>G" "" "pathogenic (recessive)" "" "0000465643" "3" "90" "22" "41922363" "41922363" "subst" "0" "02564" "ACO2_000021" "g.41922363G>A" "" "{PMID:Abela 2017:28463998}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41526359G>A" "" "likely pathogenic (recessive)" "" "0000465645" "3" "90" "22" "41923386" "41923386" "subst" "0" "02564" "ACO2_000022" "g.41923386G>T" "" "{PMID:Abela 2017:28463998}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41527382G>T" "" "likely pathogenic (recessive)" "" "0000465662" "3" "90" "22" "41903957" "41903957" "subst" "0" "02564" "ACO2_000001" "g.41903957C>G" "" "{PMID:Abela 2017:28463998}" "" "" "Not in 256 control chromosomes" "Germline" "yes" "" "0" "" "" "g.41507953C>G" "" "pathogenic (recessive)" "" "0000465663" "3" "90" "22" "41903957" "41903957" "subst" "0" "02564" "ACO2_000001" "g.41903957C>G" "" "{PMID:Sadat 2016:26992325}" "" "" "Not in 256 control chromosomes" "Germline" "yes" "" "0" "" "" "g.41507953C>G" "" "pathogenic (recessive)" "" "0000466818" "3" "90" "22" "41924026" "41924026" "subst" "0" "02564" "ACO2_000029" "g.41924026G>C" "" "{PMID:Metodiev 2014:25351951}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41528022G>C" "" "likely pathogenic (recessive)" "" "0000466823" "3" "90" "22" "41911862" "41911862" "subst" "0" "02564" "ACO2_000023" "g.41911862G>A" "" "{PMID:Metodiev 2014:25351951}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41515858G>A" "" "likely pathogenic (recessive)" "" "0000466824" "3" "90" "22" "41911862" "41911862" "subst" "0" "02564" "ACO2_000023" "g.41911862G>A" "" "{PMID:Metodiev 2014:25351951}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41515858G>A" "" "likely pathogenic" "" "0000466825" "2" "90" "22" "41923319" "41923319" "subst" "0" "02564" "ACO2_000027" "g.41923319G>C" "" "{PMID:Metodiev 2014:25351951}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41527315G>C" "" "likely pathogenic (recessive)" "" "0000466827" "1" "90" "22" "41903841" "41903841" "subst" "0.00369014" "02564" "ACO2_000005" "g.41903841C>G" "" "{PMID:Metodiev 2014:25351951}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000466829" "21" "90" "22" "41903841" "41903841" "subst" "0.00369014" "02564" "ACO2_000005" "g.41903841C>G" "" "{PMID:Kelman 2018:30118607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000466830" "10" "50" "22" "41924027" "41924027" "dup" "0" "02564" "ACO2_000030" "g.41924027dup" "" "{PMID:Kelman 2018:30118607}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41528023dup" "" "VUS" "" "0000466831" "21" "90" "22" "41903841" "41903841" "subst" "0.00369014" "02564" "ACO2_000005" "g.41903841C>G" "" "{PMID:Kelman 2018:30118607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000466832" "10" "50" "22" "41924027" "41924027" "dup" "0" "02564" "ACO2_000030" "g.41924027dup" "" "{PMID:Kelman 2018:30118607}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41528023dup" "" "VUS" "" "0000466833" "11" "70" "22" "41924602" "41924605" "del" "0" "02564" "ACO2_000031" "g.41924602_41924605del" "" "{PMID:Srivastava 2017:28545339}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41528598_41528601del" "" "likely pathogenic (recessive)" "" "0000466834" "21" "70" "22" "41916233" "41916233" "subst" "0" "02564" "ACO2_000024" "g.41916233T>C" "" "{PMID:Srivastava 2017:28545339}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41520229T>C" "" "likely pathogenic (recessive)" "" "0000466835" "3" "90" "22" "41918935" "41918935" "subst" "0" "02564" "ACO2_000025" "g.41918935T>G" "" "{PMID:Bouwcamp 2018:29577077 }" "" "" "" "Germline" "yes" "" "0" "" "" "g.41522931T>G" "" "likely pathogenic (recessive)" "" "0000466836" "3" "90" "22" "41918935" "41918935" "subst" "0" "02564" "ACO2_000025" "g.41918935T>G" "" "{PMID:Bouwcamp 2018:29577077}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41522931T>G" "" "likely pathogenic (recessive)" "" "0000572165" "0" "50" "22" "41864657" "41864657" "subst" "0" "02327" "ACO2_000032" "g.41864657T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41468653T>A" "" "VUS" "" "0000572166" "0" "10" "22" "41895777" "41895777" "subst" "0.000329271" "02330" "ACO2_000033" "g.41895777A>G" "" "" "" "ACO2(NM_001098.3):c.84A>G (p.Q28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41499773A>G" "" "benign" "" "0000572167" "0" "30" "22" "41903801" "41903801" "subst" "0" "02325" "ACO2_000034" "g.41903801C>G" "" "" "" "ACO2(NM_001098.3):c.180C>G (p.N60K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41507797C>G" "" "likely benign" "" "0000572168" "0" "10" "22" "41903813" "41903813" "subst" "0.332961" "02327" "ACO2_000004" "g.41903813A>C" "" "" "" "ACO2(NM_001098.3):c.192A>C (p.T64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41507809A>C" "" "benign" "" "0000572169" "0" "50" "22" "41903841" "41903841" "subst" "0.00369014" "02325" "ACO2_000005" "g.41903841C>G" "" "" "" "ACO2(NM_001098.3):c.220C>G (p.L74V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41507837C>G" "" "VUS" "" "0000572170" "0" "50" "22" "41903937" "41903937" "subst" "0" "02330" "ACO2_000035" "g.41903937G>A" "" "" "" "ACO2(NM_001098.3):c.316G>A (p.A106T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41507933G>A" "" "VUS" "" "0000572171" "0" "30" "22" "41907978" "41907978" "subst" "0" "01943" "ACO2_000036" "g.41907978G>A" "" "" "" "ACO2(NM_001098.2):c.525+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41511974G>A" "" "likely benign" "" "0000572172" "0" "10" "22" "41911428" "41911428" "subst" "0.000231521" "02330" "ACO2_000037" "g.41911428T>C" "" "" "" "ACO2(NM_001098.3):c.573T>C (p.T191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41515424T>C" "" "benign" "" "0000572173" "0" "10" "22" "41911525" "41911525" "subst" "0.391781" "02327" "ACO2_000038" "g.41911525C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41515521C>T" "" "benign" "" "0000572174" "0" "50" "22" "41911805" "41911805" "subst" "0.000588804" "02327" "ACO2_000002" "g.41911805G>C" "" "" "" "ACO2(NM_001098.2):c.719G>C (p.G240A), ACO2(NM_001098.3):c.719G>C (p.G240A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41515801G>C" "" "VUS" "" "0000572175" "0" "10" "22" "41914593" "41914593" "subst" "0.348805" "02327" "ACO2_000012" "g.41914593C>T" "" "" "" "ACO2(NM_001098.3):c.1032+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41518589C>T" "" "benign" "" "0000572176" "0" "10" "22" "41916255" "41916255" "subst" "0.0000325063" "02330" "ACO2_000039" "g.41916255A>G" "" "" "" "ACO2(NM_001098.2):c.1113A>G (p.E371=), ACO2(NM_001098.3):c.1113A>G (p.E371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41520251A>G" "" "benign" "" "0000572177" "0" "30" "22" "41916255" "41916255" "subst" "0.0000325063" "01943" "ACO2_000039" "g.41916255A>G" "" "" "" "ACO2(NM_001098.2):c.1113A>G (p.E371=), ACO2(NM_001098.3):c.1113A>G (p.E371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41520251A>G" "" "likely benign" "" "0000572178" "0" "30" "22" "41920975" "41920975" "subst" "0.00292469" "01943" "ACO2_000016" "g.41920975G>A" "" "" "" "ACO2(NM_001098.2):c.1605+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41524971G>A" "" "likely benign" "" "0000572179" "0" "30" "22" "41921262" "41921262" "subst" "0.0000487642" "02330" "ACO2_000040" "g.41921262C>T" "" "" "" "ACO2(NM_001098.3):c.1671C>T (p.D557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41525258C>T" "" "likely benign" "" "0000572180" "0" "50" "22" "41923350" "41923350" "subst" "0.00000817929" "02327" "ACO2_000041" "g.41923350G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41527346G>A" "" "VUS" "" "0000572181" "0" "50" "22" "41923388" "41923388" "subst" "0.0000737234" "02327" "ACO2_000042" "g.41923388C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41527384C>T" "" "VUS" "" "0000572182" "0" "10" "22" "41924037" "41924037" "subst" "0.0000162727" "02330" "ACO2_000043" "g.41924037C>T" "" "" "" "ACO2(NM_001098.3):c.2208+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41528033C>T" "" "benign" "" "0000572183" "0" "50" "22" "41924511" "41924511" "subst" "0.0000081355" "01943" "ACO2_000044" "g.41924511A>G" "" "" "" "ACO2(NM_001098.2):c.2237A>G (p.N746S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41528507A>G" "" "VUS" "" "0000572184" "0" "10" "22" "41924608" "41924608" "subst" "0" "02330" "ACO2_000045" "g.41924608G>A" "" "" "" "ACO2(NM_001098.3):c.2334G>A (p.L778=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41528604G>A" "" "benign" "" "0000579035" "21" "70" "22" "41920901" "41920901" "subst" "0.00000406081" "02564" "ACO2_000046" "g.41920901G>A" "" "{PMID:Fukada 2019:31106992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41524897G>A" "" "likely pathogenic (recessive)" "" "0000579036" "11" "70" "22" "41923335" "41923335" "subst" "0" "02564" "ACO2_000047" "g.41923335G>C" "" "{PMID:Fukada 2019:31106992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41527331G>C" "" "likely pathogenic (recessive)" "" "0000618615" "0" "30" "22" "41903903" "41903903" "subst" "0.000402478" "01943" "ACO2_000007" "g.41903903C>T" "" "" "" "ACO2(NM_001098.2):c.282C>T (p.D94=), ACO2(NM_001098.3):c.282C>T (p.D94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41507899C>T" "" "likely benign" "" "0000618616" "0" "30" "22" "41923324" "41923324" "subst" "0.0000572064" "02330" "ACO2_000048" "g.41923324C>T" "" "" "" "ACO2(NM_001098.2):c.1986C>T (p.D662=), ACO2(NM_001098.3):c.1986C>T (p.D662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41527320C>T" "" "likely benign" "" "0000618617" "0" "30" "22" "41923407" "41923407" "subst" "0" "02330" "ACO2_000049" "g.41923407G>A" "" "" "" "POLR3H(NM_001018050.4):c.*1880C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41527403G>A" "" "likely benign" "" "0000624318" "0" "30" "22" "41923324" "41923324" "subst" "0.0000572064" "01943" "ACO2_000048" "g.41923324C>T" "" "" "" "ACO2(NM_001098.2):c.1986C>T (p.D662=), ACO2(NM_001098.3):c.1986C>T (p.D662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41527320C>T" "" "likely benign" "" "0000631869" "0" "90" "22" "41895865" "41895865" "subst" "0.00000406878" "03530" "ACO2_000050" "g.41895865C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41499861C>T" "" "pathogenic (dominant)" "" "0000631870" "0" "90" "22" "41903944" "41903944" "subst" "0" "03530" "ACO2_000051" "g.41903944T>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41507940T>C" "" "pathogenic (dominant)" "" "0000631871" "11" "90" "22" "41907888" "41907888" "subst" "0" "03530" "ACO2_000052" "g.41907888C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "" "" "0" "" "" "g.41511884C>G" "" "pathogenic (dominant)" "" "0000631872" "1" "90" "22" "41907961" "41907961" "subst" "0" "03530" "ACO2_000053" "g.41907961A>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41511957A>C" "" "pathogenic (dominant)" "" "0000631873" "11" "90" "22" "41911379" "41911379" "subst" "0" "03530" "ACO2_000054" "g.41911379A>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "no" "" "0" "" "" "g.41515375A>G" "" "pathogenic (dominant)" "" "0000631874" "1" "70" "22" "41911430" "41911430" "subst" "0" "03530" "ACO2_000055" "g.41911430A>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41515426A>G" "" "pathogenic (dominant)" "" "0000631875" "21" "90" "22" "41911804" "41911804" "subst" "0.0000649736" "03530" "ACO2_000056" "g.41911804G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41515800G>A" "" "pathogenic (dominant)" "" "0000631951" "11" "90" "22" "41903817" "41903818" "del" "0" "03530" "ACO2_000057" "g.41903817_41903818del" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41507813_41507814del" "" "pathogenic (dominant)" "" "0000631952" "1" "90" "22" "41911826" "41911826" "subst" "0.00000406068" "03530" "ACO2_000058" "g.41911826T>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41515822T>C" "" "pathogenic (dominant)" "" "0000631953" "21" "90" "22" "41911827" "41911827" "del" "0" "03530" "ACO2_000059" "g.41911827del" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41515823del" "" "pathogenic (dominant)" "" "0000631954" "11" "90" "22" "41913630" "41913630" "subst" "0" "03530" "ACO2_000060" "g.41913630G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41517626G>A" "" "pathogenic (dominant)" "" "0000631955" "1" "90" "22" "41914577" "41914577" "subst" "0" "03530" "ACO2_000061" "g.41914577G>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41518573G>C" "" "pathogenic (dominant)" "" "0000631956" "1" "90" "22" "41914578" "41914578" "subst" "0" "03530" "ACO2_000062" "g.41914578T>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41518574T>C" "" "pathogenic (dominant)" "" "0000631957" "11" "90" "22" "41914581" "41914581" "subst" "0" "03530" "ACO2_000063" "g.41914581G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41518577G>A" "" "pathogenic (dominant)" "" "0000631964" "11" "90" "22" "41916274" "41916274" "subst" "0" "03530" "ACO2_000064" "g.41916274C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41520270C>T" "" "pathogenic (dominant)" "" "0000632032" "1" "90" "22" "41918932" "41918932" "subst" "0" "03530" "ACO2_000065" "g.41918932C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41522928C>T" "" "pathogenic (dominant)" "" "0000632033" "0" "90" "22" "41918949" "41918949" "ins" "0" "03530" "ACO2_000066" "g.41918949dup" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "Both non affected parents don\'t carry the variant" "De novo" "yes" "" "0" "" "" "g.41522945dup" "" "pathogenic (dominant)" "" "0000632040" "0" "90" "22" "41918986" "41918986" "subst" "0.0000162696" "03530" "ACO2_000067" "g.41918986G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41522982G>A" "" "pathogenic (dominant)" "" "0000632043" "1" "90" "22" "41919212" "41919212" "subst" "0.00000409055" "03530" "ACO2_000068" "g.41919212C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41523208C>T" "" "pathogenic (dominant)" "" "0000632044" "0" "90" "22" "41919283" "41919283" "subst" "0" "03530" "ACO2_000069" "g.41919283G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "De novo" "yes" "" "0" "" "" "g.41523279G>A" "" "pathogenic (dominant)" "" "0000632046" "1" "90" "22" "41919850" "41919850" "subst" "0.0000121867" "03530" "ACO2_000070" "g.41919850G>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41523846G>C" "" "pathogenic (dominant)" "" "0000632047" "1" "90" "22" "41919874" "41919874" "subst" "0" "03530" "ACO2_000071" "g.41919874T>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41523870T>C" "" "pathogenic (dominant)" "" "0000632049" "1" "90" "22" "41919883" "41919883" "subst" "0" "03530" "ACO2_000072" "g.41919883A>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41523879A>G" "" "pathogenic (dominant)" "" "0000632050" "1" "90" "22" "41919888" "41919888" "subst" "0" "03530" "ACO2_000073" "g.41919888C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41523884C>G" "" "pathogenic (dominant)" "" "0000632331" "1" "90" "22" "41919917" "41919917" "subst" "0" "03530" "ACO2_000075" "g.41919917A>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41523913A>G" "" "pathogenic (dominant)" "" "0000632616" "11" "90" "22" "41919915" "41919922" "del" "0" "03530" "ACO2_000074" "g.41919915_41919922del" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41523911_41523918del" "" "pathogenic (dominant)" "" "0000632617" "1" "90" "22" "41921315" "41921315" "dup" "0" "03530" "ACO2_000076" "g.41921315dup" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41525311dup" "" "pathogenic (dominant)" "" "0000632619" "1" "90" "22" "41922291" "41922291" "subst" "0" "03530" "ACO2_000077" "g.41922291A>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41526287A>C" "" "pathogenic (dominant)" "" "0000632620" "1" "90" "22" "41922293" "41922293" "subst" "0" "03530" "ACO2_000078" "g.41922293A>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41526289A>T" "" "pathogenic (dominant)" "" "0000642708" "11" "90" "22" "41903817" "41903818" "del" "0" "03530" "ACO2_000057" "g.41903817_41903818del" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41507813_41507814del" "" "pathogenic (dominant)" "" "0000643107" "1" "90" "22" "41922324" "41922324" "subst" "0.0000040711" "03530" "ACO2_000079" "g.41922324G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41526320G>A" "" "pathogenic (dominant)" "" "0000643108" "1" "90" "22" "41922381" "41922381" "dup" "0" "03530" "ACO2_000080" "g.41922381dup" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41526377dup" "" "pathogenic (dominant)" "" "0000643109" "1" "90" "22" "41923325" "41923325" "subst" "0" "03530" "ACO2_000081" "g.41923325G>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41527321G>T" "" "pathogenic (dominant)" "" "0000643110" "1" "90" "22" "41923337" "41923337" "subst" "0" "03530" "ACO2_000082" "g.41923337G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41527333G>A" "" "pathogenic (dominant)" "" "0000643123" "1" "90" "22" "41923344" "41923344" "subst" "0.00000409873" "03530" "ACO2_000083" "g.41923344C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41527340C>T" "" "pathogenic (dominant)" "" "0000643124" "21" "90" "22" "41923350" "41923350" "subst" "0.00000817929" "03530" "ACO2_000041" "g.41923350G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41527346G>A" "" "pathogenic (dominant)" "" "0000643134" "21" "90" "22" "41923350" "41923350" "subst" "0.00000817929" "03530" "ACO2_000041" "g.41923350G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41527346G>A" "" "pathogenic (dominant)" "" "0000643135" "21" "90" "22" "41923350" "41923350" "subst" "0.00000817929" "03530" "ACO2_000041" "g.41923350G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41527346G>A" "" "pathogenic (dominant)" "" "0000643136" "1" "90" "22" "41923350" "41923350" "subst" "0.00000817929" "03530" "ACO2_000041" "g.41923350G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41527346G>A" "" "pathogenic (dominant)" "" "0000643137" "0" "90" "22" "41923426" "41923426" "subst" "0" "03530" "ACO2_000097" "g.41923426T>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41527422T>C" "" "pathogenic (dominant)" "" "0000643140" "1" "90" "22" "41924567" "41924567" "subst" "0" "03530" "ACO2_000101" "g.41924567T>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41528563T>G" "" "pathogenic (dominant)" "" "0000643142" "0" "90" "22" "41924585" "41924585" "subst" "0" "03530" "ACO2_000102" "g.41924585G>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41528581G>C" "" "pathogenic (dominant)" "" "0000643143" "1" "90" "22" "41924585" "41924585" "subst" "0" "03530" "ACO2_000102" "g.41924585G>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41528581G>C" "" "pathogenic (dominant)" "" "0000643148" "1" "70" "22" "41903841" "41903841" "subst" "0.00369014" "03530" "ACO2_000005" "g.41903841C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000643149" "1" "90" "22" "41923319" "41923319" "subst" "0.0000040839" "03530" "ACO2_000093" "g.41923319G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41527315G>A" "" "pathogenic (recessive)" "" "0000643150" "1" "70" "22" "41916206" "41916206" "subst" "0" "03530" "ACO2_000086" "g.41916206C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41520202C>G" "" "pathogenic (recessive)" "" "0000643151" "1" "70" "22" "41922383" "41922383" "subst" "0.000387894" "03530" "ACO2_000091" "g.41922383G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41526379G>A" "" "pathogenic (recessive)" "" "0000644251" "1" "90" "22" "41921344" "41921350" "del" "0" "03530" "ACO2_000089" "g.41921344_41921350del" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41525340_41525346del" "" "pathogenic (dominant)" "" "0000644252" "11" "90" "22" "41921344" "41921346" "del" "0" "03530" "ACO2_000088" "g.41921344_41921346del" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41525340_41525342del" "" "pathogenic (dominant)" "" "0000644446" "1" "90" "22" "41922312" "41922312" "subst" "0" "03530" "ACO2_000090" "g.41922312G>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41526308G>C" "" "pathogenic (dominant)" "" "0000644448" "1" "90" "22" "41922312" "41922312" "subst" "0" "03530" "ACO2_000090" "g.41922312G>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41526308G>C" "" "pathogenic (dominant)" "" "0000644450" "1" "90" "22" "41922402" "41922402" "subst" "0" "03530" "ACO2_000092" "g.41922402G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41526398G>A" "" "pathogenic (dominant)" "" "0000645055" "1" "90" "22" "41923333" "41923333" "dup" "0" "03530" "ACO2_000094" "g.41923333dup" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41527329dup" "" "pathogenic (dominant)" "" "0000645056" "21" "90" "22" "41923344" "41923344" "subst" "0.00000409873" "03530" "ACO2_000083" "g.41923344C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41527340C>T" "" "pathogenic (dominant)" "" "0000645057" "1" "90" "22" "41923349" "41923349" "subst" "0.00000409085" "03530" "ACO2_000095" "g.41923349C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41527345C>T" "" "pathogenic (dominant)" "" "0000645058" "1" "90" "22" "41923373" "41923373" "subst" "0.00000409058" "03530" "ACO2_000096" "g.41923373C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41527369C>T" "" "pathogenic (dominant)" "" "0000645059" "21" "90" "22" "41923925" "41923925" "subst" "0" "03530" "ACO2_000098" "g.41923925G>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41527921G>C" "" "pathogenic (dominant)" "" "0000645060" "1" "90" "22" "41923946" "41923946" "subst" "0" "03530" "ACO2_000099" "g.41923946G>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41527942G>C" "" "pathogenic (dominant)" "" "0000645063" "1" "90" "22" "41865191" "41865191" "del" "0" "03530" "ACO2_000084" "g.41865191del" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41469187del" "" "pathogenic (recessive)" "" "0000645064" "1" "90" "22" "41911805" "41911805" "subst" "0.000588804" "03530" "ACO2_000002" "g.41911805G>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41515801G>C" "" "likely pathogenic (recessive)" "" "0000645067" "3" "90" "22" "41895859" "41895859" "subst" "0" "03530" "ACO2_000085" "g.41895859C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41499855C>T" "" "pathogenic (dominant)" "" "0000645068" "0" "90" "22" "41924482" "41924482" "subst" "0" "03530" "ACO2_000100" "g.41924482G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41528478G>A" "" "pathogenic (recessive)" "" "0000645069" "1" "70" "22" "41903841" "41903841" "subst" "0.00369014" "03530" "ACO2_000005" "g.41903841C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000645070" "1" "70" "22" "41903841" "41903841" "subst" "0.00369014" "03530" "ACO2_000005" "g.41903841C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "De novo" "yes" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000645071" "1" "90" "22" "41919853" "41919853" "subst" "0" "03530" "ACO2_000087" "g.41919853G>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "De novo" "yes" "" "0" "" "" "g.41523849G>T" "" "pathogenic (recessive)" "" "0000646076" "3" "90" "22" "41911535" "41911535" "subst" "0" "03530" "ACO2_000107" "g.41911535C>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41515531C>A" "" "pathogenic (dominant)" "" "0000646077" "1" "90" "22" "41923386" "41923386" "subst" "0" "03530" "ACO2_000115" "g.41923386G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41527382G>A" "" "pathogenic (recessive)" "" "0000646078" "2" "90" "22" "41907934" "41907934" "subst" "0.00000824783" "03530" "ACO2_000104" "g.41907934G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41511930G>A" "" "likely pathogenic (recessive)" "" "0000646079" "1" "70" "22" "41924556" "41924556" "subst" "0.0000449743" "03530" "ACO2_000119" "g.41924556C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41528552C>T" "" "pathogenic (recessive)" "" "0000646080" "1" "90" "22" "41919869" "41919869" "subst" "0" "03530" "ACO2_000110" "g.41919869T>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41523865T>A" "" "pathogenic (recessive)" "" "0000646081" "21" "70" "22" "41903841" "41903841" "subst" "0.00369014" "03530" "ACO2_000005" "g.41903841C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000646082" "11" "70" "22" "41924486" "41924487" "del" "0" "03530" "ACO2_000118" "g.41924486_41924487del" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41528482_41528483del" "" "likely pathogenic (recessive)" "" "0000646083" "21" "70" "22" "41903841" "41903841" "subst" "0.00369014" "03530" "ACO2_000005" "g.41903841C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000646084" "0" "90" "22" "41907973" "41907973" "subst" "0" "03530" "ACO2_000105" "g.41907973G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "De novo" "yes" "" "0" "" "" "g.41511969G>A" "" "likely pathogenic (recessive)" "" "0000646085" "1" "70" "22" "41903841" "41903841" "subst" "0.00369014" "03530" "ACO2_000005" "g.41903841C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000646086" "2" "90" "22" "41919208" "41919208" "subst" "0" "03530" "ACO2_000109" "g.41919208G>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41523204G>C" "" "pathogenic (recessive)" "" "0000646087" "1" "90" "22" "41924027" "41924027" "subst" "0" "03530" "ACO2_000117" "g.41924027G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41528023G>A" "" "pathogenic (dominant)" "" "0000646088" "1" "90" "22" "41903896" "41903896" "subst" "0.0000203331" "03530" "ACO2_000103" "g.41903896G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41507892G>A" "" "pathogenic (dominant)" "" "0000646089" "10" "90" "22" "41923395" "41923395" "subst" "0" "03530" "ACO2_000116" "g.41923395T>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41527391T>G" "" "pathogenic (dominant)" "" "0000646090" "1" "70" "22" "41903841" "41903841" "subst" "0.00369014" "03530" "ACO2_000005" "g.41903841C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000646091" "1" "90" "22" "41911898" "41911898" "subst" "0" "03530" "ACO2_000108" "g.41911898G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41515894G>A" "" "pathogenic (recessive)" "" "0000646487" "1" "90" "22" "41919907" "41919907" "subst" "0" "03530" "ACO2_000111" "g.41919907G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41523903G>A" "" "pathogenic (dominant)" "" "0000646488" "1" "90" "22" "41916206" "41916206" "subst" "0" "03530" "ACO2_000086" "g.41916206C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41520202C>G" "" "pathogenic (recessive)" "" "0000646489" "10" "90" "22" "41920928" "41920928" "subst" "0" "03530" "ACO2_000113" "g.41920928A>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41524924A>T" "" "pathogenic (dominant)" "" "0000646490" "20" "90" "22" "41911465" "41911465" "subst" "0" "03530" "ACO2_000106" "g.41911465A>C" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41515461A>C" "" "likely pathogenic (recessive)" "" "0000646491" "20" "90" "22" "41921281" "41921281" "subst" "0.00000812645" "03530" "ACO2_000114" "g.41921281C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41525277C>T" "" "likely pathogenic (recessive)" "" "0000646834" "21" "90" "22" "41907888" "41907888" "subst" "0" "03530" "ACO2_000052" "g.41907888C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41511884C>G" "" "pathogenic (dominant)" "" "0000646835" "1" "17" "22" "41907888" "41907888" "subst" "0" "03530" "ACO2_000052" "g.41907888C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "Non affected" "Germline/De novo (untested)" "-" "" "0" "" "" "g.41511884C>G" "" "likely pathogenic (dominant)" "" "0000646836" "1" "90" "22" "41911804" "41911804" "subst" "0.0000649736" "03530" "ACO2_000056" "g.41911804G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "no" "" "0" "" "" "g.41515800G>A" "" "pathogenic (dominant)" "" "0000646837" "0" "90" "22" "41903817" "41903818" "del" "0" "03530" "ACO2_000057" "g.41903817_41903818del" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41507813_41507814del" "" "pathogenic (dominant)" "" "0000646838" "11" "90" "22" "41903817" "41903818" "del" "0" "03530" "ACO2_000057" "g.41903817_41903818del" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "no" "" "0" "" "" "g.41507813_41507814del" "" "pathogenic (dominant)" "" "0000646839" "21" "90" "22" "41911827" "41911827" "del" "0" "03530" "ACO2_000059" "g.41911827del" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41515823del" "" "pathogenic (dominant)" "" "0000646840" "1" "37" "22" "41911827" "41911827" "del" "0" "03530" "ACO2_000059" "g.41911827del" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41515823del" "" "likely pathogenic (dominant)" "" "0000646841" "21" "70" "22" "41903841" "41903841" "subst" "0.00369014" "03530" "ACO2_000005" "g.41903841C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000646842" "11" "70" "22" "41924486" "41924487" "del" "0" "03530" "ACO2_000118" "g.41924486_41924487del" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41528482_41528483del" "" "likely pathogenic (recessive)" "" "0000646843" "21" "70" "22" "41903841" "41903841" "subst" "0.00369014" "03530" "ACO2_000005" "g.41903841C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000646844" "11" "70" "22" "41924486" "41924487" "del" "0" "03530" "ACO2_000118" "g.41924486_41924487del" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41528482_41528483del" "" "likely pathogenic (recessive)" "" "0000646846" "1" "70" "22" "41924486" "41924487" "del" "0" "03530" "ACO2_000118" "g.41924486_41924487del" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41528482_41528483del" "" "likely pathogenic (recessive)" "" "0000646847" "1" "17" "22" "41903841" "41903841" "subst" "0.00369014" "03530" "ACO2_000005" "g.41903841C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "-" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000646848" "0" "90" "22" "41914581" "41914581" "subst" "0" "03530" "ACO2_000063" "g.41914581G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41518577G>A" "" "pathogenic (dominant)" "" "0000646850" "2" "90" "22" "41918932" "41918932" "subst" "0" "03530" "ACO2_000065" "g.41918932C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "-" "" "0" "" "" "g.41522928C>T" "" "pathogenic (dominant)" "" "0000646851" "1" "70" "22" "41916274" "41916274" "subst" "0" "03530" "ACO2_000064" "g.41916274C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "-" "" "0" "" "" "g.41520270C>T" "" "pathogenic (dominant)" "" "0000646852" "1" "70" "22" "41903841" "41903841" "subst" "0.00369014" "03530" "ACO2_000005" "g.41903841C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "-" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000646853" "21" "70" "22" "41922402" "41922402" "subst" "0" "03530" "ACO2_000092" "g.41922402G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "-" "" "0" "" "" "g.41526398G>A" "" "pathogenic (dominant)" "" "0000646854" "21" "90" "22" "41923344" "41923344" "subst" "0.00000409873" "03530" "ACO2_000083" "g.41923344C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41527340C>T" "" "pathogenic (dominant)" "" "0000646855" "1" "70" "22" "41923344" "41923344" "subst" "0.00000409873" "03530" "ACO2_000083" "g.41923344C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41527340C>T" "" "pathogenic (dominant)" "" "0000646856" "21" "90" "22" "41923344" "41923344" "subst" "0.00000409873" "03530" "ACO2_000083" "g.41923344C>T" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41527340C>T" "" "pathogenic (dominant)" "" "0000646857" "11" "70" "22" "41903841" "41903841" "subst" "0.00369014" "03530" "ACO2_000005" "g.41903841C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000646858" "0" "90" "22" "41920875" "41920875" "subst" "0" "03530" "ACO2_000112" "g.41920875G>A" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "De novo" "yes" "" "0" "" "" "g.41524871G>A" "" "pathogenic (recessive)" "" "0000646859" "1" "17" "22" "41903841" "41903841" "subst" "0.00369014" "03530" "ACO2_000005" "g.41903841C>G" "" "{DOI:Charif 2021:10.1093/braincomms/fcab063}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41507837C>G" "" "likely pathogenic (recessive)" "" "0000650992" "1" "50" "22" "41903841" "41903841" "subst" "0.00369014" "03575" "ACO2_000005" "g.41903841C>G" "6/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "Conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; {DB:CLININrs141772938}" "Germline" "" "rs141772938" "0" "" "" "g.41507837C>G" "" "VUS" "" "0000650993" "1" "90" "22" "41911540" "41911540" "subst" "0.0000125351" "03575" "ACO2_000120" "g.41911540G>T" "18/2645 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs747330606}" "Germline" "" "rs747330606" "0" "" "" "g.41515536G>T" "" "likely pathogenic (dominant)" "" "0000658970" "0" "50" "22" "41911805" "41911805" "subst" "0.000588804" "01943" "ACO2_000002" "g.41911805G>C" "" "" "" "ACO2(NM_001098.2):c.719G>C (p.G240A), ACO2(NM_001098.3):c.719G>C (p.G240A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41515801G>C" "" "VUS" "" "0000667166" "21" "90" "22" "41922398" "41922398" "subst" "0" "03530" "ACO2_000122" "g.41922398G>A" "" "{PMID:32449285:Gibson 2020}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41526394G>A" "" "likely pathogenic (recessive)" "" "0000667167" "10" "90" "22" "41907934" "41907934" "subst" "0.000111346" "03530" "ACO2_000121" "g.41907934G>T" "" "{PMID:32449285:Gibson 2020}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41511930G>T" "" "likely pathogenic (recessive)" "" "0000667168" "21" "90" "22" "41922398" "41922398" "subst" "0" "03530" "ACO2_000122" "g.41922398G>A" "" "{PMID:32449285:Gibson 2020}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41526394G>A" "" "likely pathogenic (recessive)" "" "0000667169" "10" "90" "22" "41907934" "41907934" "subst" "0.000111346" "03530" "ACO2_000121" "g.41907934G>T" "" "{PMID:32449285:Gibson 2020}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41511930G>T" "" "likely pathogenic (recessive)" "" "0000667479" "1" "90" "22" "41918876" "41918876" "subst" "0.0000040618" "00006" "ACO2_000123" "g.41918876G>A" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "g.41522872G>A" "" "pathogenic (recessive)" "ACMG" "0000667587" "2" "90" "22" "41921313" "41921313" "subst" "0" "00006" "ACO2_000124" "g.41921313G>C" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "g.41525309G>C" "" "pathogenic (recessive)" "ACMG" "0000668673" "0" "70" "22" "41903957" "41903957" "subst" "0" "00091" "ACO2_000001" "g.41903957C>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41507953C>G" "" "pathogenic (recessive)" "" "0000668674" "0" "50" "22" "41911805" "41911805" "subst" "0.000588804" "00091" "ACO2_000002" "g.41911805G>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41515801G>C" "" "VUS" "" "0000668675" "0" "10" "22" "41895765" "41895765" "subst" "0.000191124" "00091" "ACO2_000003" "g.41895765A>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41499761A>G" "" "benign" "" "0000668676" "0" "10" "22" "41903813" "41903813" "subst" "0.332961" "00091" "ACO2_000004" "g.41903813A>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41507809A>C" "" "benign" "" "0000668677" "0" "15" "22" "41903841" "41903841" "subst" "0.00369014" "00091" "ACO2_000005" "g.41903841C>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41507837C>G" "" "likely benign" "" "0000668678" "0" "10" "22" "41903852" "41903852" "subst" "0.000813392" "00091" "ACO2_000006" "g.41903852C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41507848C>T" "" "benign" "" "0000668679" "0" "10" "22" "41903903" "41903903" "subst" "0.000402478" "00091" "ACO2_000007" "g.41903903C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41507899C>T" "" "benign" "" "0000668680" "0" "10" "22" "41904072" "41904072" "subst" "0.000278326" "00091" "ACO2_000008" "g.41904072T>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41508068T>C" "" "benign" "" "0000668681" "0" "70" "22" "41913529" "41913529" "subst" "0" "00091" "ACO2_000009" "g.41913529A>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41517525A>C" "" "likely pathogenic" "" "0000668682" "0" "50" "22" "41914522" "41914522" "subst" "0.0000040619" "00091" "ACO2_000010" "g.41914522G>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41518518G>T" "" "VUS" "" "0000668683" "0" "30" "22" "41914532" "41914532" "subst" "0.0000162504" "00091" "ACO2_000011" "g.41914532C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41518528C>T" "" "likely benign" "" "0000668684" "0" "10" "22" "41914593" "41914593" "subst" "0.348805" "00091" "ACO2_000012" "g.41914593C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41518589C>T" "" "benign" "" "0000668685" "0" "50" "22" "41918971" "41918971" "subst" "0" "00091" "ACO2_000013" "g.41918971A>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41522967A>G" "" "VUS" "" "0000668686" "0" "10" "22" "41919009" "41919009" "subst" "0.000436899" "00091" "ACO2_000014" "g.41919009C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41523005C>T" "" "benign" "" "0000668687" "0" "10" "22" "41920948" "41920948" "subst" "0.0000162442" "00091" "ACO2_000015" "g.41920948G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41524944G>A" "" "benign" "" "0000668688" "0" "30" "22" "41920975" "41920975" "subst" "0.00292469" "00091" "ACO2_000016" "g.41920975G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41524971G>A" "" "likely benign" "" "0000668689" "0" "10" "22" "41923280" "41923280" "subst" "0.00172259" "00091" "ACO2_000017" "g.41923280C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527276C>T" "" "benign" "" "0000668690" "0" "10" "22" "41924539" "41924539" "subst" "0" "00091" "ACO2_000018" "g.41924539C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41528535C>T" "" "benign" "" "0000668691" "0" "30" "22" "41924552" "41924552" "subst" "0.000277814" "00091" "ACO2_000019" "g.41924552G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41528548G>A" "" "likely benign" "" "0000668692" "0" "10" "22" "41924620" "41924620" "subst" "0.0000567247" "00091" "ACO2_000020" "g.41924620G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41528616G>A" "" "benign" "" "0000668693" "0" "70" "22" "41922363" "41922363" "subst" "0" "00091" "ACO2_000021" "g.41922363G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41526359G>A" "" "likely pathogenic (recessive)" "" "0000668694" "0" "70" "22" "41923386" "41923386" "subst" "0" "00091" "ACO2_000022" "g.41923386G>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527382G>T" "" "likely pathogenic (recessive)" "" "0000668695" "0" "90" "22" "41911862" "41911862" "subst" "0" "00091" "ACO2_000023" "g.41911862G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41515858G>A" "" "likely pathogenic (recessive)" "" "0000668696" "0" "70" "22" "41916233" "41916233" "subst" "0" "00091" "ACO2_000024" "g.41916233T>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41520229T>C" "" "likely pathogenic (recessive)" "" "0000668697" "0" "90" "22" "41918935" "41918935" "subst" "0" "00091" "ACO2_000025" "g.41918935T>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41522931T>G" "" "likely pathogenic (recessive)" "" "0000668698" "0" "70" "22" "41922323" "41922323" "subst" "0.00000407034" "00091" "ACO2_000026" "g.41922323C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41526319C>T" "" "likely pathogenic (recessive)" "" "0000668699" "0" "90" "22" "41923319" "41923319" "subst" "0" "00091" "ACO2_000027" "g.41923319G>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527315G>C" "" "likely pathogenic (recessive)" "" "0000668700" "0" "70" "22" "41923953" "41923953" "subst" "0.000036665" "00091" "ACO2_000028" "g.41923953C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527949C>T" "" "likely pathogenic (recessive)" "" "0000668701" "0" "90" "22" "41924026" "41924026" "subst" "0" "00091" "ACO2_000029" "g.41924026G>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41528022G>C" "" "likely pathogenic (recessive)" "" "0000668702" "0" "50" "22" "41924027" "41924027" "dup" "0" "00091" "ACO2_000030" "g.41924027dup" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41528023dup" "" "VUS" "" "0000668703" "0" "70" "22" "41924602" "41924605" "del" "0" "00091" "ACO2_000031" "g.41924602_41924605del" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41528598_41528601del" "" "likely pathogenic (recessive)" "" "0000668704" "0" "50" "22" "41864657" "41864657" "subst" "0" "00091" "ACO2_000032" "g.41864657T>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41468653T>A" "" "VUS" "" "0000668705" "0" "10" "22" "41895777" "41895777" "subst" "0.000329271" "00091" "ACO2_000033" "g.41895777A>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41499773A>G" "" "benign" "" "0000668706" "0" "30" "22" "41903801" "41903801" "subst" "0" "00091" "ACO2_000034" "g.41903801C>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41507797C>G" "" "likely benign" "" "0000668707" "0" "50" "22" "41903937" "41903937" "subst" "0" "00091" "ACO2_000035" "g.41903937G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41507933G>A" "" "VUS" "" "0000668708" "0" "30" "22" "41907978" "41907978" "subst" "0" "00091" "ACO2_000036" "g.41907978G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41511974G>A" "" "likely benign" "" "0000668709" "0" "10" "22" "41911428" "41911428" "subst" "0.000231521" "00091" "ACO2_000037" "g.41911428T>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41515424T>C" "" "benign" "" "0000668710" "0" "10" "22" "41911525" "41911525" "subst" "0.391781" "00091" "ACO2_000038" "g.41911525C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41515521C>T" "" "benign" "" "0000668711" "0" "10" "22" "41916255" "41916255" "subst" "0.0000325063" "00091" "ACO2_000039" "g.41916255A>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41520251A>G" "" "benign" "" "0000668712" "0" "30" "22" "41921262" "41921262" "subst" "0.0000487642" "00091" "ACO2_000040" "g.41921262C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41525258C>T" "" "likely benign" "" "0000668713" "0" "50" "22" "41923350" "41923350" "subst" "0.00000817929" "00091" "ACO2_000041" "g.41923350G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527346G>A" "" "likely pathogenic" "" "0000668714" "0" "50" "22" "41923388" "41923388" "subst" "0.0000737234" "00091" "ACO2_000042" "g.41923388C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527384C>T" "" "VUS" "" "0000668715" "0" "10" "22" "41924037" "41924037" "subst" "0.0000162727" "00091" "ACO2_000043" "g.41924037C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41528033C>T" "" "benign" "" "0000668716" "0" "50" "22" "41924511" "41924511" "subst" "0.0000081355" "00091" "ACO2_000044" "g.41924511A>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41528507A>G" "" "VUS" "" "0000668717" "0" "10" "22" "41924608" "41924608" "subst" "0" "00091" "ACO2_000045" "g.41924608G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41528604G>A" "" "benign" "" "0000668718" "0" "70" "22" "41920901" "41920901" "subst" "0.00000406081" "00091" "ACO2_000046" "g.41920901G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41524897G>A" "" "likely pathogenic (recessive)" "" "0000668719" "0" "70" "22" "41923335" "41923335" "subst" "0" "00091" "ACO2_000047" "g.41923335G>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527331G>C" "" "likely pathogenic (recessive)" "" "0000668720" "0" "30" "22" "41923324" "41923324" "subst" "0.0000572064" "00091" "ACO2_000048" "g.41923324C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527320C>T" "" "likely benign" "" "0000668721" "0" "30" "22" "41923407" "41923407" "subst" "0" "00091" "ACO2_000049" "g.41923407G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527403G>A" "" "likely benign" "" "0000668722" "0" "90" "22" "41895865" "41895865" "subst" "0.00000406878" "00091" "ACO2_000050" "g.41895865C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41499861C>T" "" "pathogenic (dominant)" "" "0000668723" "0" "90" "22" "41903944" "41903944" "subst" "0" "00091" "ACO2_000051" "g.41903944T>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41507940T>C" "" "pathogenic (dominant)" "" "0000668724" "0" "90" "22" "41907888" "41907888" "subst" "0" "00091" "ACO2_000052" "g.41907888C>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41511884C>G" "" "pathogenic (dominant)" "" "0000668725" "0" "90" "22" "41907961" "41907961" "subst" "0" "00091" "ACO2_000053" "g.41907961A>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41511957A>C" "" "pathogenic (dominant)" "" "0000668726" "0" "90" "22" "41911379" "41911379" "subst" "0" "00091" "ACO2_000054" "g.41911379A>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41515375A>G" "" "pathogenic (dominant)" "" "0000668727" "0" "70" "22" "41911430" "41911430" "subst" "0" "00091" "ACO2_000055" "g.41911430A>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41515426A>G" "" "pathogenic (dominant)" "" "0000668728" "0" "90" "22" "41911804" "41911804" "subst" "0.0000649736" "00091" "ACO2_000056" "g.41911804G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41515800G>A" "" "pathogenic (dominant)" "" "0000668729" "0" "90" "22" "41903817" "41903818" "del" "0" "00091" "ACO2_000057" "g.41903817_41903818del" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41507813_41507814del" "" "pathogenic (dominant)" "" "0000668730" "0" "90" "22" "41911826" "41911826" "subst" "0.00000406068" "00091" "ACO2_000058" "g.41911826T>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41515822T>C" "" "pathogenic (dominant)" "" "0000668731" "0" "90" "22" "41911827" "41911827" "del" "0" "00091" "ACO2_000059" "g.41911827del" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41515823del" "" "pathogenic (dominant)" "" "0000668732" "0" "90" "22" "41913630" "41913630" "subst" "0" "00091" "ACO2_000060" "g.41913630G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41517626G>A" "" "pathogenic (dominant)" "" "0000668733" "0" "90" "22" "41914577" "41914577" "subst" "0" "00091" "ACO2_000061" "g.41914577G>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41518573G>C" "" "pathogenic (dominant)" "" "0000668734" "0" "90" "22" "41914578" "41914578" "subst" "0" "00091" "ACO2_000062" "g.41914578T>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41518574T>C" "" "pathogenic (dominant)" "" "0000668735" "0" "90" "22" "41914581" "41914581" "subst" "0" "00091" "ACO2_000063" "g.41914581G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41518577G>A" "" "pathogenic (dominant)" "" "0000668736" "0" "90" "22" "41916274" "41916274" "subst" "0" "00091" "ACO2_000064" "g.41916274C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41520270C>T" "" "pathogenic (dominant)" "" "0000668737" "0" "90" "22" "41918932" "41918932" "subst" "0" "00091" "ACO2_000065" "g.41918932C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41522928C>T" "" "pathogenic (dominant)" "" "0000668738" "0" "90" "22" "41918949" "41918949" "ins" "0" "00091" "ACO2_000066" "g.41918949dup" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41522945dup" "" "pathogenic (dominant)" "" "0000668739" "0" "90" "22" "41918986" "41918986" "subst" "0.0000162696" "00091" "ACO2_000067" "g.41918986G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41522982G>A" "" "pathogenic (dominant)" "" "0000668740" "0" "90" "22" "41919212" "41919212" "subst" "0.00000409055" "00091" "ACO2_000068" "g.41919212C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41523208C>T" "" "pathogenic (dominant)" "" "0000668741" "0" "90" "22" "41919283" "41919283" "subst" "0" "00091" "ACO2_000069" "g.41919283G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41523279G>A" "" "pathogenic (dominant)" "" "0000668742" "0" "90" "22" "41919850" "41919850" "subst" "0.0000121867" "00091" "ACO2_000070" "g.41919850G>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41523846G>C" "" "pathogenic (dominant)" "" "0000668743" "0" "90" "22" "41919874" "41919874" "subst" "0" "00091" "ACO2_000071" "g.41919874T>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41523870T>C" "" "pathogenic (dominant)" "" "0000668744" "0" "90" "22" "41919883" "41919883" "subst" "0" "00091" "ACO2_000072" "g.41919883A>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41523879A>G" "" "pathogenic (dominant)" "" "0000668745" "0" "90" "22" "41919888" "41919888" "subst" "0" "00091" "ACO2_000073" "g.41919888C>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41523884C>G" "" "pathogenic (dominant)" "" "0000668746" "0" "90" "22" "41919915" "41919922" "del" "0" "00091" "ACO2_000074" "g.41919915_41919922del" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41523911_41523918del" "" "pathogenic (dominant)" "" "0000668747" "0" "90" "22" "41919917" "41919917" "subst" "0" "00091" "ACO2_000075" "g.41919917A>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41523913A>G" "" "pathogenic (dominant)" "" "0000668748" "0" "90" "22" "41921315" "41921315" "dup" "0" "00091" "ACO2_000076" "g.41921315dup" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41525311dup" "" "pathogenic (dominant)" "" "0000668749" "0" "90" "22" "41922291" "41922291" "subst" "0" "00091" "ACO2_000077" "g.41922291A>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41526287A>C" "" "pathogenic (dominant)" "" "0000668750" "0" "90" "22" "41922293" "41922293" "subst" "0" "00091" "ACO2_000078" "g.41922293A>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41526289A>T" "" "pathogenic (dominant)" "" "0000668751" "0" "90" "22" "41922324" "41922324" "subst" "0.0000040711" "00091" "ACO2_000079" "g.41922324G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41526320G>A" "" "pathogenic (dominant)" "" "0000668752" "0" "90" "22" "41922381" "41922381" "dup" "0" "00091" "ACO2_000080" "g.41922381dup" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41526377dup" "" "pathogenic (dominant)" "" "0000668753" "0" "90" "22" "41923325" "41923325" "subst" "0" "00091" "ACO2_000081" "g.41923325G>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527321G>T" "" "pathogenic (dominant)" "" "0000668754" "0" "90" "22" "41923337" "41923337" "subst" "0" "00091" "ACO2_000082" "g.41923337G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527333G>A" "" "pathogenic (dominant)" "" "0000668755" "0" "90" "22" "41923344" "41923344" "subst" "0.00000409873" "00091" "ACO2_000083" "g.41923344C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527340C>T" "" "pathogenic (dominant)" "" "0000668756" "0" "90" "22" "41865191" "41865191" "del" "0" "00091" "ACO2_000084" "g.41865191del" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41469187del" "" "pathogenic (recessive)" "" "0000668757" "0" "90" "22" "41895859" "41895859" "subst" "0" "00091" "ACO2_000085" "g.41895859C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41499855C>T" "" "pathogenic (dominant)" "" "0000668758" "0" "70" "22" "41916206" "41916206" "subst" "0" "00091" "ACO2_000086" "g.41916206C>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41520202C>G" "" "pathogenic (recessive)" "" "0000668759" "0" "90" "22" "41919853" "41919853" "subst" "0" "00091" "ACO2_000087" "g.41919853G>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41523849G>T" "" "pathogenic (recessive)" "" "0000668760" "0" "90" "22" "41921344" "41921346" "del" "0" "00091" "ACO2_000088" "g.41921344_41921346del" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41525340_41525342del" "" "pathogenic (dominant)" "" "0000668761" "0" "90" "22" "41921344" "41921350" "del" "0" "00091" "ACO2_000089" "g.41921344_41921350del" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41525340_41525346del" "" "pathogenic (dominant)" "" "0000668762" "0" "90" "22" "41922312" "41922312" "subst" "0" "00091" "ACO2_000090" "g.41922312G>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41526308G>C" "" "pathogenic (dominant)" "" "0000668763" "0" "70" "22" "41922383" "41922383" "subst" "0.000387894" "00091" "ACO2_000091" "g.41922383G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41526379G>A" "" "pathogenic (recessive)" "" "0000668764" "0" "90" "22" "41922402" "41922402" "subst" "0" "00091" "ACO2_000092" "g.41922402G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41526398G>A" "" "pathogenic (dominant)" "" "0000668765" "0" "90" "22" "41923319" "41923319" "subst" "0.0000040839" "00091" "ACO2_000093" "g.41923319G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527315G>A" "" "pathogenic (recessive)" "" "0000668766" "0" "90" "22" "41923333" "41923333" "dup" "0" "00091" "ACO2_000094" "g.41923333dup" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527329dup" "" "pathogenic (dominant)" "" "0000668767" "0" "90" "22" "41923349" "41923349" "subst" "0.00000409085" "00091" "ACO2_000095" "g.41923349C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527345C>T" "" "pathogenic (dominant)" "" "0000668768" "0" "90" "22" "41923373" "41923373" "subst" "0.00000409058" "00091" "ACO2_000096" "g.41923373C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527369C>T" "" "pathogenic (dominant)" "" "0000668769" "0" "90" "22" "41923426" "41923426" "subst" "0" "00091" "ACO2_000097" "g.41923426T>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527422T>C" "" "pathogenic (dominant)" "" "0000668770" "0" "90" "22" "41923925" "41923925" "subst" "0" "00091" "ACO2_000098" "g.41923925G>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527921G>C" "" "pathogenic (dominant)" "" "0000668771" "0" "90" "22" "41923946" "41923946" "subst" "0" "00091" "ACO2_000099" "g.41923946G>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527942G>C" "" "pathogenic (dominant)" "" "0000668772" "0" "90" "22" "41924482" "41924482" "subst" "0" "00091" "ACO2_000100" "g.41924482G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41528478G>A" "" "pathogenic (recessive)" "" "0000668773" "0" "90" "22" "41924567" "41924567" "subst" "0" "00091" "ACO2_000101" "g.41924567T>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41528563T>G" "" "pathogenic (dominant)" "" "0000668774" "0" "90" "22" "41924585" "41924585" "subst" "0" "00091" "ACO2_000102" "g.41924585G>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41528581G>C" "" "pathogenic (dominant)" "" "0000668775" "0" "90" "22" "41903896" "41903896" "subst" "0.0000203331" "00091" "ACO2_000103" "g.41903896G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41507892G>A" "" "pathogenic (dominant)" "" "0000668776" "0" "90" "22" "41907934" "41907934" "subst" "0.00000824783" "00091" "ACO2_000104" "g.41907934G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41511930G>A" "" "likely pathogenic (recessive)" "" "0000668777" "0" "90" "22" "41907973" "41907973" "subst" "0" "00091" "ACO2_000105" "g.41907973G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41511969G>A" "" "likely pathogenic (recessive)" "" "0000668778" "0" "90" "22" "41911465" "41911465" "subst" "0" "00091" "ACO2_000106" "g.41911465A>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41515461A>C" "" "likely pathogenic (recessive)" "" "0000668779" "0" "90" "22" "41911535" "41911535" "subst" "0" "00091" "ACO2_000107" "g.41911535C>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41515531C>A" "" "pathogenic (dominant)" "" "0000668780" "0" "90" "22" "41911898" "41911898" "subst" "0" "00091" "ACO2_000108" "g.41911898G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41515894G>A" "" "pathogenic (recessive)" "" "0000668781" "0" "90" "22" "41919208" "41919208" "subst" "0" "00091" "ACO2_000109" "g.41919208G>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41523204G>C" "" "pathogenic (recessive)" "" "0000668782" "0" "90" "22" "41919869" "41919869" "subst" "0" "00091" "ACO2_000110" "g.41919869T>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41523865T>A" "" "pathogenic (recessive)" "" "0000668783" "0" "90" "22" "41919907" "41919907" "subst" "0" "00091" "ACO2_000111" "g.41919907G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41523903G>A" "" "pathogenic (dominant)" "" "0000668784" "0" "90" "22" "41920875" "41920875" "subst" "0" "00091" "ACO2_000112" "g.41920875G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41524871G>A" "" "pathogenic (recessive)" "" "0000668785" "0" "90" "22" "41920928" "41920928" "subst" "0" "00091" "ACO2_000113" "g.41920928A>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41524924A>T" "" "pathogenic (dominant)" "" "0000668786" "0" "90" "22" "41921281" "41921281" "subst" "0.00000812645" "00091" "ACO2_000114" "g.41921281C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41525277C>T" "" "likely pathogenic (recessive)" "" "0000668787" "0" "90" "22" "41923386" "41923386" "subst" "0" "00091" "ACO2_000115" "g.41923386G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527382G>A" "" "pathogenic (recessive)" "" "0000668788" "0" "90" "22" "41923395" "41923395" "subst" "0" "00091" "ACO2_000116" "g.41923395T>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41527391T>G" "" "pathogenic (dominant)" "" "0000668789" "0" "90" "22" "41924027" "41924027" "subst" "0" "00091" "ACO2_000117" "g.41924027G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41528023G>A" "" "pathogenic (dominant)" "" "0000668790" "0" "70" "22" "41924486" "41924487" "del" "0" "00091" "ACO2_000118" "g.41924486_41924487del" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41528482_41528483del" "" "likely pathogenic (recessive)" "" "0000668791" "0" "70" "22" "41924556" "41924556" "subst" "0.0000449743" "00091" "ACO2_000119" "g.41924556C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41528552C>T" "" "pathogenic (recessive)" "" "0000668792" "0" "90" "22" "41911540" "41911540" "subst" "0.0000125351" "00091" "ACO2_000120" "g.41911540G>T" "" "" "" "" "" "SUMMARY record" "" "rs747330606" "0" "" "" "g.41515536G>T" "" "likely pathogenic (dominant)" "" "0000668793" "0" "90" "22" "41907934" "41907934" "subst" "0.000111346" "00091" "ACO2_000121" "g.41907934G>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41511930G>T" "" "likely pathogenic (recessive)" "" "0000668794" "0" "90" "22" "41922398" "41922398" "subst" "0" "00091" "ACO2_000122" "g.41922398G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41526394G>A" "" "likely pathogenic (recessive)" "" "0000668795" "0" "90" "22" "41918876" "41918876" "subst" "0.0000040618" "00091" "ACO2_000123" "g.41918876G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41522872G>A" "" "pathogenic (recessive)" "" "0000668796" "0" "90" "22" "41921313" "41921313" "subst" "0" "00091" "ACO2_000124" "g.41921313G>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.41525309G>C" "" "pathogenic (recessive)" "" "0000693203" "0" "50" "22" "41903986" "41903986" "subst" "0" "01943" "ACO2_000125" "g.41903986C>T" "" "" "" "ACO2(NM_001098.2):c.365C>T (p.S122F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693204" "0" "30" "22" "41922383" "41922383" "subst" "0.000387894" "01943" "ACO2_000091" "g.41922383G>A" "" "" "" "ACO2(NM_001098.2):c.1879G>A (p.G627S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000694190" "1" "99" "22" "41921295" "41921308" "dup" "0" "00091" "ACO2_000126" "g.41921295_41921308dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000694191" "2" "99" "22" "41911805" "41911805" "subst" "0.000588804" "00091" "ACO2_000002" "g.41911805G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000704531" "0" "90" "22" "41923923" "41923923" "del" "0" "01807" "ACO2_000127" "g.41923923del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708845" "0" "55" "22" "41903841" "41903841" "subst" "0.00369014" "00091" "ACO2_000005" "g.41903841C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000708846" "0" "55" "22" "41921348" "41921350" "del" "0" "00091" "ACO2_000128" "g.41921348_41921350del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000712073" "1" "55" "22" "41911805" "41911805" "subst" "0.000588804" "00091" "ACO2_000002" "g.41911805G>C" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "" "0000728193" "0" "30" "22" "41911791" "41911791" "subst" "0.0000203049" "01943" "ACO2_000129" "g.41911791G>A" "" "" "" "ACO2(NM_001098.2):c.705G>A (p.T235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728194" "0" "70" "22" "41923953" "41923953" "subst" "0.000036665" "01943" "ACO2_000028" "g.41923953C>T" "" "" "" "ACO2(NM_001098.2):c.2135C>T (p.P712L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000733000" "0" "70" "22" "41914573" "41914576" "del" "0" "00000" "ACO2_000131" "g.41914573_41914576del" "" "{PMID:Stone 2017:28559085}" "" "1027_1030delAGTG" "" "Germline" "" "" "0" "" "" "g.41518569_41518572del" "" "likely pathogenic" "" "0000733515" "1" "70" "22" "41924487" "41924487" "subst" "0" "00000" "ACO2_000132" "g.41924487T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.41528483T>C" "" "likely pathogenic" "" "0000733885" "2" "70" "22" "41903866" "41903866" "subst" "0.0000893975" "00000" "ACO2_000130" "g.41903866T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.41507862T>C" "" "likely pathogenic" "" "0000790075" "1" "50" "22" "41916241" "41916241" "subst" "0" "00091" "ACO2_000133" "g.41916241G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000809652" "0" "30" "22" "41895813" "41895813" "subst" "0.0000243736" "01943" "ACO2_000134" "g.41895813C>T" "" "" "" "ACO2(NM_001098.2):c.120C>T (p.N40=), ACO2(NM_001098.3):c.120C>T (p.N40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809653" "0" "90" "22" "41903871" "41903871" "subst" "0" "02327" "ACO2_000135" "g.41903871C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809654" "0" "30" "22" "41903960" "41903960" "subst" "0.0000243865" "01943" "ACO2_000136" "g.41903960C>T" "" "" "" "ACO2(NM_001098.2):c.339C>T (p.S113=), ACO2(NM_001098.3):c.339C>T (p.S113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809655" "0" "50" "22" "41914532" "41914532" "subst" "0.0000162504" "01943" "ACO2_000011" "g.41914532C>T" "" "" "" "ACO2(NM_001098.2):c.988C>T (p.P330S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809656" "0" "50" "22" "41919850" "41919850" "subst" "0.000426535" "01943" "ACO2_000137" "g.41919850G>T" "" "" "" "ACO2(NM_001098.2):c.1387G>T (p.G463W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817839" "3" "70" "22" "41903923" "41903923" "subst" "0" "00006" "ACO2_000138" "g.41903923C>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.41507919C>T" "" "likely pathogenic (recessive)" "ACMG" "0000828473" "1" "70" "22" "41922279" "41922279" "subst" "0" "00000" "ACO2_000139" "g.41922279G>A" "" "{PMID:Perea-Romero 2021:34448047}" "" "ACO2, gene that can display both dominant and recessive patterns of inheritance, c.1775G>A, p.Cys592Tyr, compound heterozygous" "" "Germline" "yes" "" "0" "" "" "g.41526275G>A" "" "likely pathogenic" "ACMG" "0000828474" "2" "70" "22" "41924573" "41924573" "subst" "0.0000410526" "00000" "ACO2_000140" "g.41924573C>T" "" "{PMID:Perea-Romero 2021:34448047}" "" "ACO2, gene that can display both dominant and recessive patterns of inheritance, c.2299C>T, p.Arg767Cys, compound heterozygous" "" "Germline" "yes" "" "0" "" "" "g.41528569C>T" "" "likely pathogenic" "ACMG" "0000856187" "0" "50" "22" "41903841" "41903841" "subst" "0.00369014" "02327" "ACO2_000005" "g.41903841C>G" "" "" "" "ACO2(NM_001098.3):c.220C>G (p.L74V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000856188" "0" "30" "22" "41913628" "41913628" "subst" "0.000317218" "01943" "ACO2_000141" "g.41913628C>T" "" "" "" "ACO2(NM_001098.2):c.933C>T (p.G311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856189" "0" "90" "22" "41922401" "41922405" "del" "0" "02327" "ACO2_000143" "g.41922401_41922405del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866870" "0" "30" "22" "41903852" "41903852" "subst" "0.000813392" "01943" "ACO2_000006" "g.41903852C>T" "" "" "" "ACO2(NM_001098.2):c.231C>T (p.P77=), ACO2(NM_001098.3):c.231C>T (p.P77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866871" "0" "30" "22" "41921326" "41921326" "subst" "0" "01943" "ACO2_000142" "g.41921326C>T" "" "" "" "ACO2(NM_001098.2):c.1735C>T (p.L579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866872" "0" "30" "22" "41922473" "41922473" "subst" "0.000337705" "02330" "ACO2_000144" "g.41922473T>C" "" "" "" "ACO2(NM_001098.3):c.1953+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866873" "0" "30" "22" "41923931" "41923931" "subst" "0.000126246" "01943" "ACO2_000145" "g.41923931C>T" "" "" "" "ACO2(NM_001098.2):c.2113C>T (p.L705=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895768" "0" "90" "22" "41895737" "41895738" "del" "0" "02327" "ACO2_000146" "g.41895737_41895738del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895769" "0" "30" "22" "41895813" "41895813" "subst" "0.0000243736" "02330" "ACO2_000134" "g.41895813C>T" "" "" "" "ACO2(NM_001098.2):c.120C>T (p.N40=), ACO2(NM_001098.3):c.120C>T (p.N40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895770" "0" "10" "22" "41903813" "41903813" "subst" "0.332961" "02326" "ACO2_000004" "g.41903813A>C" "" "" "" "ACO2(NM_001098.3):c.192A>C (p.T64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895771" "0" "30" "22" "41903960" "41903960" "subst" "0.0000243865" "02330" "ACO2_000136" "g.41903960C>T" "" "" "" "ACO2(NM_001098.2):c.339C>T (p.S113=), ACO2(NM_001098.3):c.339C>T (p.S113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895772" "0" "50" "22" "41919868" "41919868" "subst" "0.0000284312" "02327" "ACO2_000147" "g.41919868G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895773" "0" "50" "22" "41922452" "41922454" "del" "0" "02330" "ACO2_000148" "g.41922452_41922454del" "" "" "" "ACO2(NM_001098.3):c.1948_1950delTAC (p.Y650del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895774" "0" "30" "22" "41924545" "41924545" "subst" "0.00000407957" "02330" "ACO2_000149" "g.41924545C>T" "" "" "" "ACO2(NM_001098.3):c.2271C>T (p.T757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895775" "0" "50" "22" "41924552" "41924552" "subst" "0.000277814" "02327" "ACO2_000019" "g.41924552G>A" "" "" "" "ACO2(NM_001098.3):c.2278G>A (p.E760K), POLR3H(NM_001018050.4):c.*735C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927186" "0" "90" "22" "41895865" "41895865" "subst" "0.00000406878" "02327" "ACO2_000050" "g.41895865C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927187" "0" "50" "22" "41911891" "41911891" "subst" "0" "02330" "ACO2_000150" "g.41911891G>A" "" "" "" "ACO2(NM_001098.3):c.805G>A (p.G269R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927188" "0" "50" "22" "41918981" "41918981" "subst" "0.0000162557" "02327" "ACO2_000151" "g.41918981G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931302" "0" "50" "22" "41918983" "41918983" "subst" "0" "02327" "ACO2_000152" "g.41918983G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ACO2 ## Count = 359 "{{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}}" "0000116947" "00001969" "50" "719" "0" "719" "0" "c.719G>C" "r.(?)" "p.(Gly240Ala)" "6" "0000247705" "00001969" "10" "72" "0" "72" "0" "c.72A>G" "r.(?)" "p.(Ser24=)" "2" "0000247713" "00001969" "70" "836" "-2" "836" "-2" "c.836-2A>C" "r.spl?" "p.?" "6i" "0000248733" "00001969" "10" "192" "0" "192" "0" "c.192A>C" "r.(?)" "p.(Thr64=)" "3" "0000257170" "00001969" "10" "2346" "0" "2346" "0" "c.*3G>A" "r.(=)" "p.(=)" "18" "0000257171" "00001969" "10" "1296" "18" "1296" "18" "c.1296+18C>T" "r.(=)" "p.(=)" "10i" "0000257172" "00001969" "10" "1581" "0" "1581" "0" "c.1581G>A" "r.(?)" "p.(Pro527=)" "13" "0000257174" "00001969" "15" "220" "0" "220" "0" "c.220C>G" "r.(?)" "p.(Leu74Val)" "3" "0000257176" "00001969" "10" "231" "0" "231" "0" "c.231C>T" "r.(?)" "p.(Pro77=)" "3" "0000257177" "00001969" "10" "282" "0" "282" "0" "c.282C>T" "r.(?)" "p.(Asp94=)" "3" "0000257178" "00001969" "10" "432" "19" "432" "19" "c.432+19T>C" "r.(=)" "p.(=)" "3i" "0000258900" "00001969" "10" "1032" "17" "1032" "17" "c.1032+17C>T" "r.(=)" "p.(=)" "8i" "0000259610" "00001969" "50" "719" "0" "719" "0" "c.719G>C" "r.(?)" "p.(Gly240Ala)" "6" "0000261782" "00001969" "50" "978" "0" "978" "0" "c.978G>T" "r.(?)" "p.(Leu326Phe)" "8" "0000294216" "00001969" "10" "1954" "-12" "1954" "-12" "c.1954-12C>T" "r.(=)" "p.(=)" "15i" "0000294217" "00001969" "30" "2278" "0" "2278" "0" "c.2278G>A" "r.(?)" "p.(Glu760Lys)" "18" "0000294218" "00001969" "10" "2265" "0" "2265" "0" "c.2265C>T" "r.(?)" "p.(Asn755=)" "18" "0000305532" "00001969" "50" "-504" "0" "-504" "0" "c.-504T>C" "r.(?)" "p.(=)" "_1" "0000329056" "00001969" "50" "1276" "0" "1276" "0" "c.1276A>G" "r.(?)" "p.(Thr426Ala)" "10" "0000329058" "00001969" "50" "4500" "0" "4500" "0" "c.*2157T>C" "r.(=)" "p.(=)" "18_" "0000400745" "00001969" "70" "1859" "0" "1859" "0" "c.1859G>A" "r.(?)" "p.(Gly620Asp)" "15" "0000400746" "00001969" "70" "2048" "0" "2048" "0" "c.2048G>T" "r.(?)" "p.(Gly683Val)" "16" "0000464309" "00001969" "70" "2135" "0" "2135" "0" "c.2135C>T" "r.(?)" "p.(Pro712Leu)" "17" "0000464310" "00001969" "70" "1819" "0" "1819" "0" "c.1819C>T" "r.(?)" "p.(Arg607Cys)" "15" "0000465590" "00001969" "70" "336" "0" "336" "0" "c.336C>G" "r.(?)" 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"p.(Leu585del)" "14" "0000668761" "00001969" "90" "1753" "0" "1759" "0" "c.1753_1759del" "r.(?)" "p.(Leu585Argfs*73)" "14" "0000668762" "00001969" "90" "1808" "0" "1808" "0" "c.1808G>C" "r.(?)" "p.(Trp603Ser)" "15" "0000668763" "00001969" "70" "1879" "0" "1879" "0" "c.1879G>A" "r.(?)" "p.(Gly627Ser)" "15" "0000668764" "00001969" "90" "1898" "0" "1898" "0" "c.1898G>A" "r.(?)" "p.(Arg633His)" "15" "0000668765" "00001969" "90" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Gly661Arg)" "16" "0000668766" "00001969" "90" "1995" "0" "1995" "0" "c.1995dup" "r.(?)" "p.(Gly666Argfs*46)" "16" "0000668767" "00001969" "90" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671Trp)" "16" "0000668768" "00001969" "90" "2035" "0" "2035" "0" "c.2035C>T" "r.(?)" "p.(Arg679Cys)" "16" "0000668769" "00001969" "90" "2086" "2" "2086" "2" "c.2086+2T>C" "r.spl?" "p.?" "16i" "0000668770" "00001969" "90" "2107" "0" "2107" "0" "c.2107G>C" "r.(?)" "p.(Gly703Arg)" "17" "0000668771" "00001969" "90" "2128" "0" "2128" "0" "c.2128G>C" "r.(?)" "p.(Ala710Pro)" "17" "0000668772" "00001969" "90" "2209" "-1" "2209" "-1" "c.2209-1G>A" "r.spl?" "p.?" "17i" "0000668773" "00001969" "90" "2293" "0" "2293" "0" "c.2293T>G" "r.(?)" "p.(Trp765Gly)" "18" "0000668774" "00001969" "90" "2311" "0" "2311" "0" "c.2311G>C" "r.(?)" "p.(Ala771Pro)" "18" "0000668775" "00001969" "90" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "3" "0000668776" "00001969" "90" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Val163Met)" "4" "0000668777" "00001969" "90" "525" "1" "525" "1" "c.525+1G>A" "r.spl?" "p.?" "4i" "0000668778" "00001969" "90" "610" "0" "610" "0" "c.610A>C" "r.(?)" "p.(Ile204Leu)" "4" "0000668779" "00001969" "90" "680" "0" "680" "0" "c.680C>A" "r.(?)" "p.(Pro227His)" "4" "0000668780" "00001969" "90" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Gly271Asp)" "6" "0000668781" "00001969" "90" "1297" "-1" "1297" "-1" "c.1297-1G>C" "r.spl?" "p.?" "10i" "0000668782" "00001969" "90" "1406" "0" "1406" "0" "c.1406T>A" "r.(?)" "p.(Val469Asp)" "12" "0000668783" "00001969" "90" "1444" "0" "1444" "0" "c.1444G>A" "r.(?)" "p.(Ala482Thr)" "12" "0000668784" "00001969" "90" "1508" "0" "1508" "0" "c.1508G>A" "r.(?)" "p.(Gly503Glu)" "13" "0000668785" "00001969" "90" "1561" "0" "1561" "0" "c.1561A>T" "r.(?)" "p.(Lys521*)" "13" "0000668786" "00001969" "90" "1690" "0" "1690" "0" "c.1690C>T" "r.(?)" "p.(Arg564Cys)" "14" "0000668787" "00001969" "90" "2048" "0" "2048" "0" "c.2048G>A" "r.(?)" "p.(Gly683Asp)" "16" "0000668788" "00001969" "90" "2057" "0" "2057" "0" "c.2057T>G" "r.(?)" "p.(Ile686Ser)" "16" "0000668789" "00001969" "90" "2208" "1" "2208" "1" "c.2208+1G>A" "r.spl?" "p.?" "17i" "0000668790" "00001969" "70" "2212" "0" "2213" "0" "c.2212_2213del" "r.(?)" "p.(Leu738Glufs*26)" "18" "0000668791" "00001969" "70" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Thr761Met)" "18" "0000668792" "00001969" "90" "684" "1" "684" "1" "c.684+1G>T" "r.spl?" "p.?" "5i" "0000668793" "00001969" "90" "487" "0" "487" "0" "c.487G>T" "r.(?)" "p.(Val163Leu)" "4" "0000668794" "00001969" "90" "1894" "0" "1894" "0" "c.1894G>A" "r.(?)" "p.(Val632Met)" "15" "0000668795" "00001969" "90" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Gly394Glu)" "10" "0000668796" "00001969" "90" "1722" "0" "1722" "0" "c.1722G>C" "r.(?)" "p.(Trp574Cys)" "14" "0000693203" "00001969" "50" "365" "0" "365" "0" "c.365C>T" "r.(?)" "p.(Ser122Phe)" "" "0000693204" "00001969" "30" "1879" "0" "1879" "0" "c.1879G>A" "r.(?)" "p.(Gly627Ser)" "" "0000694190" "00001969" "99" "1704" "0" "1717" "0" "c.1704_1717dup" "r.(?)" "p.(Lys573Argfs*92)" "14" "0000694191" "00001969" "99" "719" "0" "719" "0" "c.719G>C" "r.(?)" "p.(Gly240Ala)" "6" "0000704531" "00001969" "90" "2105" "0" "2105" "0" "c.2105del" "r.(?)" "p.(Gln702ArgfsTer6)" "" "0000708845" "00001969" "55" "220" "0" "220" "0" "c.220C>G" "r.(?)" "p.(Leu74Val)" "3" "0000708846" "00001969" "55" "1757" "0" "1759" "0" "c.1757_1759del" "r.(?)" "p.(Ile586del)" "14" "0000712073" "00001969" "55" "719" "0" "719" "0" "c.719G>C" "r.(?)" "p.(Gly240Ala)" "" "0000728193" "00001969" "30" "705" "0" "705" "0" "c.705G>A" "r.(?)" "p.(Thr235=)" "" "0000728194" "00001969" "70" "2135" "0" "2135" "0" "c.2135C>T" "r.(?)" "p.(Pro712Leu)" "" "0000733000" "00001969" "70" "1029" "0" "1032" "0" "c.1029_1032del" "r.(?)" "p.(Glu344*)" "" "0000733515" "00001969" "70" "2213" "0" "2213" "0" "c.2213T>C" "r.(?)" "p.(Leu738Pro)" "" "0000733885" "00001969" "70" "245" "0" "245" "0" "c.245T>C" "r.(?)" "p.(Ile82Thr)" "" "0000790075" "00001969" "50" "1099" "0" "1099" "0" "c.1099G>A" "r.(?)" "p.(Val367Met)" "9" "0000809652" "00001969" "30" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Asn40=)" "" "0000809653" "00001969" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84*)" "" "0000809654" "00001969" "30" "339" "0" "339" "0" "c.339C>T" "r.(?)" "p.(Ser113=)" "" "0000809655" "00001969" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Pro330Ser)" "" "0000809656" "00001969" "50" "1387" "0" "1387" "0" "c.1387G>T" "r.(?)" "p.(Gly463Trp)" "" "0000817839" "00001969" "70" "302" "0" "302" "0" "c.302C>T" "r.(?)" "p.(Ala101Val)" "" "0000828473" "00001969" "70" "1775" "0" "1775" "0" "c.1775G>A" "r.(?)" "p.(Cys592Tyr)" "" "0000828474" "00001969" "70" "2299" "0" "2299" "0" "c.2299C>T" "r.(?)" "p.(Arg767Cys)" "" "0000856187" "00001969" "50" "220" "0" "220" "0" "c.220C>G" "r.(?)" "p.(Leu74Val)" "" "0000856188" "00001969" "30" "933" "0" "933" "0" "c.933C>T" "r.(?)" "p.(Gly311=)" "" "0000856189" "00001969" "90" "1897" "0" "1901" "0" "c.1897_1901del" "r.(?)" "p.(Arg633Cysfs*11)" "" "0000866870" "00001969" "30" "231" "0" "231" "0" "c.231C>T" "r.(?)" "p.(Pro77=)" "" "0000866871" "00001969" "30" "1735" "0" "1735" "0" "c.1735C>T" "r.(?)" "p.(Leu579=)" "" "0000866872" "00001969" "30" "1953" "16" "1953" "16" "c.1953+16T>C" "r.(=)" "p.(=)" "" "0000866873" "00001969" "30" "2113" "0" "2113" "0" "c.2113C>T" "r.(?)" "p.(Leu705=)" "" "0000895768" "00001969" "90" "44" "0" "45" "0" "c.44_45del" "r.(?)" "p.(Leu15Argfs*23)" "" "0000895769" "00001969" "30" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Asn40=)" "" "0000895770" "00001969" "10" "192" "0" "192" "0" "c.192A>C" "r.(?)" "p.(Thr64=)" "" "0000895771" "00001969" "30" "339" "0" "339" "0" "c.339C>T" "r.(?)" "p.(Ser113=)" "" "0000895772" "00001969" "50" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Val469Ile)" "" "0000895773" "00001969" "50" "1948" "0" "1950" "0" "c.1948_1950del" "r.(?)" "p.(Tyr650del)" "" "0000895774" "00001969" "30" "2271" "0" "2271" "0" "c.2271C>T" "r.(?)" "p.(Thr757=)" "" "0000895775" "00001969" "50" "2278" "0" "2278" "0" "c.2278G>A" "r.(?)" "p.(Glu760Lys)" "" "0000927186" "00001969" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58*)" "" "0000927187" "00001969" "50" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Gly269Arg)" "" "0000927188" "00001969" "50" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Arg429Gln)" "" "0000931302" "00001969" "50" "1288" "0" "1288" "0" "c.1288G>T" "r.(?)" "p.(Asp430Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 163 "{{screeningid}}" "{{variantid}}" "0000073314" "0000116947" "0000177875" "0000400745" "0000177875" "0000400746" "0000227315" "0000464309" "0000227315" "0000464310" "0000227377" "0000465590" "0000227394" "0000465633" "0000227395" "0000465634" "0000227397" "0000465636" "0000227399" "0000465638" "0000227400" "0000465639" "0000227401" "0000465640" "0000227402" "0000465641" "0000227404" "0000465643" "0000227404" "0000465645" "0000227421" "0000465662" "0000227422" "0000465663" "0000227423" "0000466818" "0000227424" "0000466823" "0000227425" "0000466824" "0000227426" "0000466825" "0000227426" "0000466827" "0000227429" "0000466829" "0000227429" "0000466830" "0000227430" "0000466831" "0000227430" "0000466832" "0000227431" "0000466833" "0000227431" "0000466834" "0000227432" "0000466835" "0000227433" "0000466836" "0000249956" "0000579035" "0000249956" "0000579036" "0000277138" "0000631869" "0000277139" "0000631870" "0000277140" "0000631871" "0000277141" "0000631872" "0000277142" "0000631873" "0000277143" "0000631874" "0000277145" "0000631875" "0000277207" "0000631951" "0000277208" "0000631952" "0000277209" "0000631953" "0000277210" "0000631954" "0000277211" "0000631955" "0000277212" "0000631956" "0000277214" "0000631957" "0000277219" "0000631964" "0000277266" "0000632032" "0000277267" "0000632033" "0000277273" "0000632040" "0000277276" "0000632043" "0000277277" "0000632044" "0000277279" "0000632046" "0000277280" "0000632047" "0000277282" "0000632049" "0000277283" "0000632050" "0000277497" "0000632331" "0000277499" "0000632616" "0000277500" "0000632617" "0000277501" "0000632619" "0000277502" "0000632620" "0000286975" "0000642708" "0000287319" "0000643107" "0000287320" "0000643108" "0000287322" "0000643109" "0000287323" "0000643110" "0000287336" "0000643123" "0000287338" "0000643124" "0000287344" "0000643134" "0000287345" "0000643135" "0000287346" "0000643136" "0000287347" "0000643137" "0000287350" "0000643140" "0000287352" "0000643142" "0000287352" "0000643143" "0000287357" "0000643148" "0000287357" "0000643149" "0000287358" "0000643150" "0000287358" "0000643151" "0000288338" "0000644251" "0000288339" "0000644252" "0000288530" "0000644446" "0000288531" "0000644448" "0000288533" "0000644450" "0000289139" "0000645055" "0000289140" "0000645056" "0000289141" "0000645057" "0000289142" "0000645058" "0000289143" "0000645059" "0000289144" "0000645060" "0000289145" "0000645063" "0000289145" "0000645064" "0000289146" "0000645067" "0000289147" "0000645068" "0000289147" "0000645069" "0000289148" "0000645070" "0000289148" "0000645071" "0000290054" "0000646076" "0000290055" "0000646077" "0000290055" "0000646078" "0000290056" "0000646079" "0000290056" "0000646080" "0000290057" "0000646081" "0000290057" "0000646082" "0000290058" "0000646083" "0000290058" "0000646084" "0000290059" "0000646085" "0000290059" "0000646086" "0000290060" "0000646087" "0000290061" "0000646088" "0000290062" "0000646089" "0000290063" "0000646090" "0000290063" "0000646091" "0000290064" "0000646487" "0000290065" "0000646488" "0000290066" "0000646489" "0000290067" "0000646490" "0000290067" "0000646491" "0000290186" "0000646834" "0000290187" "0000646835" "0000290188" "0000646836" "0000290189" "0000646837" "0000290190" "0000646838" "0000290191" "0000646839" "0000290192" "0000646840" "0000290193" "0000646841" "0000290193" "0000646842" "0000290194" "0000646843" "0000290194" "0000646844" "0000290196" "0000646846" "0000290197" "0000646847" "0000290198" "0000646848" "0000290199" "0000646850" "0000290200" "0000646851" "0000290201" "0000646852" "0000290202" "0000646853" "0000290203" "0000646854" "0000290204" "0000646855" "0000290205" "0000646856" "0000290206" "0000646857" "0000290206" "0000646858" "0000290207" "0000646859" "0000294303" "0000650992" "0000294304" "0000650993" "0000303779" "0000667166" "0000303779" "0000667167" "0000303780" "0000667168" "0000303780" "0000667169" "0000304081" "0000667479" "0000304081" "0000667587" "0000312591" "0000694190" "0000312591" "0000694191" "0000321620" "0000704531" "0000325707" "0000708845" "0000325707" "0000708846" "0000328150" "0000712073" "0000334993" "0000733000" "0000335506" "0000733515" "0000335506" "0000733885" "0000377661" "0000790075" "0000389046" "0000817839" "0000396796" "0000828473" "0000396796" "0000828474"