### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNU2-2) # 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}}" "RNU2-2" "RNA, U2 small nuclear 2" "11" "q12.3" "unknown" "NC_000011.9" "UD_136090693808" "" "https://www.LOVD.nl/RNU2-2" "" "1" "10152" "26855" "621238" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-09-30 17:42:32" "00006" "2025-10-09 14:50:07" ## 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}}" "00017968" "RNU2-2" "RNA, U2 small nuclear 2" "001" "NR_002761.3" "" "" "" "" "" "1" "138" "138" "62609233" "62609096" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07184" "DEE119" "encephalopathy, developmental and epileptic, type 119" "AD" "621304" "" "" "" "00006" "2025-09-30 18:03:08" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RNU2-2" "05611" "RNU2-2" "07184" ## Individuals ## Do not remove or alter this header ## ## Count = 201 "{{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}}" "00454914" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG1" "00454915" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG2" "00454916" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier mother" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG3" "00454917" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG4" "00454918" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG5" "00454919" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG6" "00454920" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG7" "00454921" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier mother" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG8" "00454922" "" "" "" "2" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 2 affected brothers, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG9" "00454923" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatM1" "00454924" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatM2" "00454925" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatN1" "00454926" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatS1" "00454927" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier mother" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatS2" "00454928" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatS3" "00467064" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "PatI1" "00467065" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "PatI2" "00467066" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "PatI3" "00467067" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "PatI4" "00467068" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "PatI5" "00467069" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "PatI6" "00467070" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "PatR1" "00467071" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "PatW1" "00467072" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Iceland" "" "0" "" "" "" "PatY1" "00467073" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "PatZ1" "00467083" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "2-Pat1" "00467084" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "2-Pat2" "00467085" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Australia" "" "0" "" "" "jew-Ashkenazi" "2-Pat3" "00467086" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Korea" "" "0" "" "" "Asia" "2-Pat4" "00467087" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Korea" "" "0" "" "" "Asia" "2-Pat5" "00467088" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Korea" "" "0" "" "" "Asia" "2-Pat6" "00467089" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Korea" "" "0" "" "" "Asia" "2-Pat7" "00467090" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat8" "00467091" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat9" "00467092" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat10" "00467093" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat11" "00467094" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat12" "00467095" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat13" "00467096" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "" "" "0" "" "" "Europe" "2-Pat14" "00467097" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat15" "00467098" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat16" "00467099" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat17" "00467100" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat18" "00467101" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat19" "00467102" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat20" "00467103" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat21" "00467104" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat22" "00467105" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat23" "00467106" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat24" "00467107" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat25" "00467108" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat26" "00467109" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "" "" "0" "" "" "Europe" "2-Pat27" "00467110" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamA" "00467111" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamB" "00467112" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamC" "00467113" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamD" "00467114" "" "" "" "2" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamE" "00467115" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamF" "00467116" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamG" "00467117" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamH" "00467118" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamI" "00467119" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamJ" "00467120" "" "" "" "3" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, affected brother/2 sisters, unaffected heterozygous carrier parents" "F;M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamK" "00467121" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamL" "00467122" "" "" "" "3" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier parents" "F;M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamM" "00467123" "" "" "" "2" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, affected brother/sister, unaffected parents" "F;M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamN" "00467124" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamO" "00467125" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamP" "00467126" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamQ" "00467127" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamR" "00467128" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "FamU" "00467129" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamV" "00467130" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "FamW" "00467131" "" "" "" "2" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "FamXPat1" "00467132" "" "" "" "2" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "FamYPat1" "00467133" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamA2" "00467134" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamB2" "00467135" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamC2" "00467136" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamD2" "00467137" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamE2" "00467138" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamF2" "00467139" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamG2" "00467140" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamH2" "00467141" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamI2" "00467142" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamJ2" "00467143" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamK2" "00467144" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamL2" "00467145" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamM2" "00467146" "" "" "00467131" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "sister" "F" "" "" "" "0" "" "" "" "FamXPat2" "00467147" "" "" "00467132" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "sister" "F" "" "" "" "0" "" "" "" "FamYPat2" "00467152" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-1" "00467153" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-2" "00467154" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-3" "00467155" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-4" "00467156" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-5" "00467157" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-6" "00467158" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-7" "00467159" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-8" "00467160" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-9" "00467161" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-10" "00467162" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-11" "00467163" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-12" "00467164" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "" "" "0" "" "" "" "PatSupTab2-13" "00467165" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-14" "00467166" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-15" "00467167" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-16" "00467168" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-17" "00467169" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-18" "00467170" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-19" "00467171" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, affected twins, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-20" "00467172" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-21" "00467173" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-22" "00467174" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-23" "00467175" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-24" "00467176" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-25" "00467177" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-26" "00467178" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-27" "00467179" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-28" "00467180" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-29" "00467181" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-30" "00467182" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-31" "00467183" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-32" "00467184" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-33" "00467185" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-34" "00467186" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-35" "00467187" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-36" "00467188" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-37" "00467189" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-38" "00467190" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-39" "00467191" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-40" "00467192" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-41" "00467193" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-42" "00467194" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-43" "00467195" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-44" "00467196" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-45" "00467197" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-46" "00467198" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-47" "00467199" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-48" "00467200" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-49" "00467201" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-50" "00467202" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-51" "00467203" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-52" "00467204" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-53" "00467205" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-54" "00467206" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-55" "00467207" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-56" "00467208" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-57" "00467209" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-58" "00467210" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-59" "00467211" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-60" "00467212" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-61" "00467213" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-62" "00467214" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-63" "00467215" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-64" "00467216" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-65" "00467217" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "" "" "0" "" "" "" "PatSupTab2-66" "00467218" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-67" "00467219" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-68" "00467220" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-69" "00467221" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-70" "00467222" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-71" "00467223" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-72" "00467224" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-73" "00467225" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-74" "00467226" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-75" "00467227" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-76" "00467228" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-77" "00467229" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-78" "00467230" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-79" "00467231" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-80" "00467232" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-81" "00467233" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-82" "00467234" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-83" "00467235" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-84" "00467236" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-85" "00467237" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-86" "00467238" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-87" "00467239" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-88" "00467240" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-89" "00467241" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-90" "00467242" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-91" "00467243" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-92" "00467244" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-93" "00467245" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-94" "00467246" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-95" "00467247" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-96" "00467248" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-97" "00467249" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-98" "00467250" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-99" "00467251" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-100" "00467252" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-101" "00467253" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-102" "00467254" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-103" "00467255" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-104" "00467256" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-105" "00467257" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-106" "00467258" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-107" "00467259" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, affected fetus, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-108" "00467261" "" "" "" "1" "" "00006" "{PMID:Fan 2025:40968615}, {DOI:Fan 2025:10.1111/cge.70069}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Pat1" "00467262" "" "" "" "1" "" "00006" "{PMID:Fan 2025:40968615}, {DOI:Fan 2025:10.1111/cge.70069}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Pat2" "00467263" "" "" "" "1" "" "00006" "{PMID:Fan 2025:40968615}, {DOI:Fan 2025:10.1111/cge.70069}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "Pat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 201 "{{individualid}}" "{{diseaseid}}" "00454914" "05611" "00454915" "05611" "00454916" "05611" "00454917" "05611" "00454918" "05611" "00454919" "05611" "00454920" "05611" "00454921" "05611" "00454922" "05611" "00454923" "05611" "00454924" "05611" "00454925" "05611" "00454926" "05611" "00454927" "05611" "00454928" "05611" "00467064" "05611" "00467065" "05611" "00467066" "05611" "00467067" "05611" "00467068" "05611" "00467069" "05611" "00467070" "05611" "00467071" "05611" "00467072" "05611" "00467073" "05611" "00467083" "05611" "00467084" "05611" "00467085" "05611" "00467086" "05611" "00467087" "05611" "00467088" "05611" "00467089" "05611" "00467090" "05611" "00467091" "05611" "00467092" "05611" "00467093" "05611" "00467094" "05611" "00467095" "05611" "00467096" "05611" "00467097" "05611" "00467098" "05611" "00467099" "05611" "00467100" "05611" "00467101" "05611" "00467102" "05611" "00467103" "05611" "00467104" "05611" "00467105" "05611" "00467106" "05611" "00467107" "05611" "00467108" "05611" "00467109" "05611" "00467110" "05611" "00467111" "05611" "00467112" "05611" "00467113" "05611" "00467114" "05611" "00467115" "05611" "00467116" "05611" "00467117" "05611" "00467118" "05611" "00467119" "05611" "00467120" "05611" "00467121" "05611" "00467122" "05611" "00467123" "05611" "00467124" "05611" "00467125" "05611" "00467126" "05611" "00467127" "05611" "00467128" "05611" "00467129" "05611" "00467130" "05611" "00467131" "05611" "00467132" "05611" "00467133" "05611" "00467134" "05611" "00467135" "05611" "00467136" "05611" "00467137" "05611" "00467138" "05611" "00467139" "05611" "00467140" "05611" "00467141" "05611" "00467142" "05611" "00467143" "05611" "00467144" "05611" "00467145" "05611" "00467146" "05611" "00467147" "05611" "00467152" "05611" "00467153" "05611" "00467154" "05611" "00467155" "05611" "00467156" "05611" "00467157" "05611" "00467158" "05611" "00467159" "05611" "00467160" "05611" "00467161" "05611" "00467162" "05611" "00467163" "05611" "00467164" "05611" "00467165" "05611" "00467166" "05611" "00467167" "05611" "00467168" "05611" "00467169" "05611" "00467170" "05611" "00467171" "05611" "00467172" "05611" "00467173" "05611" "00467174" "05611" "00467175" "05611" "00467176" "05611" "00467177" "05611" "00467178" "05611" "00467179" "05611" "00467180" "05611" "00467181" "05611" "00467182" "05611" "00467183" "05611" "00467184" "05611" "00467185" "05611" "00467186" "05611" "00467187" "05611" "00467188" "05611" "00467189" "05611" "00467190" "05611" "00467191" "05611" "00467192" "05611" "00467193" "00000" "00467194" "00000" "00467195" "05611" "00467196" "05611" "00467197" "05611" "00467198" "05611" "00467199" "05611" "00467200" "05611" "00467201" "05611" "00467202" "05611" "00467203" "05611" "00467204" "05611" "00467205" "05611" "00467206" "05611" "00467207" "05611" "00467208" "05611" "00467209" "05611" "00467210" "05611" "00467211" "05611" "00467212" "05611" "00467213" "05611" "00467214" "05611" "00467215" "05611" "00467216" "05611" "00467217" "05611" "00467218" "05611" "00467219" "05611" "00467220" "05611" "00467221" "05611" "00467222" "05611" "00467223" "05611" "00467224" "05611" "00467225" "05611" "00467226" "05611" "00467227" "05611" "00467228" "05611" "00467229" "05611" "00467230" "05611" "00467231" "05611" "00467232" "05611" "00467233" "05611" "00467234" "05611" "00467235" "05611" "00467236" "05611" "00467237" "05611" "00467238" "05611" "00467239" "05611" "00467240" "00000" "00467241" "05611" "00467242" "00000" "00467243" "05611" "00467244" "05611" "00467245" "05611" "00467246" "05611" "00467247" "05611" "00467248" "05611" "00467249" "05611" "00467250" "05611" "00467251" "05611" "00467252" "05611" "00467253" "05611" "00467254" "05611" "00467255" "05611" "00467256" "05611" "00467257" "05611" "00467258" "05611" "00467259" "00000" "00467261" "05611" "00467262" "05611" "00467263" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 05611, 07184 ## Count = 201 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000343512" "05611" "00454914" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343513" "05611" "00454915" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343514" "05611" "00454916" "00006" "Unknown" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343515" "05611" "00454917" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343516" "05611" "00454918" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343517" "05611" "00454919" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343518" "05611" "00454920" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343519" "05611" "00454921" "00006" "Unknown" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343520" "05611" "00454922" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343521" "05611" "00454923" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343522" "05611" "00454924" "00006" "Unknown" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343523" "05611" "00454925" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343524" "05611" "00454926" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343525" "05611" "00454927" "00006" "Unknown" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343526" "05611" "00454928" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000352271" "05611" "00467064" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352272" "05611" "00467065" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352273" "05611" "00467066" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352274" "05611" "00467067" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352275" "05611" "00467068" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352276" "05611" "00467069" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352277" "05611" "00467070" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352278" "05611" "00467071" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352279" "05611" "00467072" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352280" "05611" "00467073" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352290" "05611" "00467083" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352291" "05611" "00467084" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352292" "05611" "00467085" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352293" "05611" "00467086" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352294" "05611" "00467087" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352295" "05611" "00467088" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352296" "05611" "00467089" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352297" "05611" "00467090" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352298" "05611" "00467091" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352299" "05611" "00467092" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352300" "05611" "00467093" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352301" "05611" "00467094" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352302" "05611" "00467095" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352303" "05611" "00467096" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352304" "05611" "00467097" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352305" "05611" "00467098" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352306" "05611" "00467099" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352307" "05611" "00467100" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352308" "05611" "00467101" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352309" "05611" "00467102" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352310" "05611" "00467103" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352311" "05611" "00467104" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352312" "05611" "00467105" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352313" "05611" "00467106" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352314" "05611" "00467107" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352315" "05611" "00467108" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352316" "05611" "00467109" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352317" "05611" "00467110" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352318" "05611" "00467111" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352319" "05611" "00467112" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352320" "05611" "00467113" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352321" "05611" "00467114" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352322" "05611" "00467115" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352323" "05611" "00467116" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352324" "05611" "00467117" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352325" "05611" "00467118" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352326" "05611" "00467119" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352327" "05611" "00467120" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352328" "05611" "00467121" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352329" "05611" "00467122" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352330" "05611" "00467123" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352331" "05611" "00467124" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352332" "05611" "00467125" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352333" "05611" "00467126" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352334" "05611" "00467127" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352335" "05611" "00467128" "00006" "Familial, autosomal recessive" "" "see paper; ..., seizures, bilateral tonic-clonic seizure, bilateral tonic-clonic seizure with generalized onset; EEG generalized slow activity; Babinski sign; autism; abnormal repetitive mannerisms; bruxism; recurrent hand flapping; hand clenching; stereotypical body rocking; no speech; global developmental delay; inability to walk; abnormal cerebral white matter morphology; failure to thrive; breathing dysregulation; hyperventilation; generalized hypotonia" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352336" "05611" "00467129" "00006" "Familial, autosomal recessive" "" "see paper; ..., microcephaly; seizures, bilateral tonic-clonic seizure; spasticity; spastic tetraparesis; no speech; global developmental delay; dystonia; inability to walk; hyperreflexia; abnormal cerebral white matter morphology; small basal ganglia; cerebral white matter agenesis; feeding difficulties; scoliosis; hypertonia; generalized hypotonia" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352337" "05611" "00467130" "00006" "Familial, autosomal recessive" "" "see paper; ..., microcephaly; encephalopathy; seizures; sleep abnormality; inappropriate laughter; abnormal repetitive mannerisms; no speech; global developmental delay; dystonia; hypoglycorrhachia; decreased lacrimation; decreased sweating due to autonomic dysfunction; constipation" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352338" "05611" "00467131" "00006" "Familial, autosomal recessive" "" "see paper; ..., encephalopathy; seizures, myoclonic seizure; choreoathetosis; inappropriate laughter; agitation; abnormal repetitive mannerisms; no speech; global developmental delay; delayed gross motor development; inability to walk; hyperreflexia; cerebral cortical atrophy; cerebellar cortical atrophy; abnormal cerebral white matter morphology; failure to thrive; constipation; feeding difficulties; hypertonia" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352339" "05611" "00467132" "00006" "Familial, autosomal recessive" "" "see paper; ..., plagiocephaly; seizures, focal-onset seizure; spasticity; autism; abnormal repetitive mannerisms; stereotypical hand wringing; no speech; global developmental delay; delayed gross motor development; dystonia; broad-based gait; inability to walk; failure to thrive; hypertonia" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352340" "05611" "00467133" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352341" "05611" "00467134" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352342" "05611" "00467135" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352343" "05611" "00467136" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352344" "05611" "00467137" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352345" "05611" "00467138" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352346" "05611" "00467139" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352347" "05611" "00467140" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352348" "05611" "00467141" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352349" "05611" "00467142" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352350" "05611" "00467143" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352351" "05611" "00467144" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352352" "05611" "00467145" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352353" "05611" "00467146" "00006" "Familial, autosomal recessive" "" "see paper; ..., encephalopathy; seizures, myoclonic seizure; inappropriate laughter; agitation; abnormal repetitive mannerisms; stereotypical hand wringing; no speech; global developmental delay; delayed gross motor development; inability to walk; hyperreflexia; hypoplasia corpus callosum; cerebral cortical atrophy; cerebellar cortical atrophy; abnormal cerebral white matter morphology; failure to thrive; constipation; hypertonia" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352354" "05611" "00467147" "00006" "Familial, autosomal recessive" "" "see paper; ..., spasticity; agitation; dystonia; broad-based gait; inability to walk; hypertonia" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352359" "05611" "00467152" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352360" "05611" "00467153" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352361" "05611" "00467154" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352362" "05611" "00467155" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352363" "05611" "00467156" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352364" "05611" "00467157" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352365" "05611" "00467158" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352366" "05611" "00467159" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352367" "05611" "00467160" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352368" "05611" "00467161" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352369" "05611" "00467162" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352370" "05611" "00467163" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352371" "05611" "00467164" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352372" "05611" "00467165" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352373" "05611" "00467166" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352374" "05611" "00467167" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352375" "05611" "00467168" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352376" "05611" "00467169" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352377" "05611" "00467170" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352378" "05611" "00467171" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352379" "05611" "00467172" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352380" "05611" "00467173" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352381" "05611" "00467174" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352382" "05611" "00467175" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352383" "05611" "00467176" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352384" "05611" "00467177" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352385" "05611" "00467178" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352386" "05611" "00467179" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352387" "05611" "00467180" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352388" "05611" "00467181" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352389" "05611" "00467182" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352390" "05611" "00467183" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352391" "05611" "00467184" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352392" "05611" "00467185" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352393" "05611" "00467186" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352394" "05611" "00467187" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352395" "05611" "00467188" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352396" "05611" "00467189" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352397" "05611" "00467190" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352398" "05611" "00467191" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352399" "05611" "00467192" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352400" "00000" "00467193" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "" "unknown (fetus with cerebral malformation)" "0000352401" "00000" "00467194" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance), 14m-hearing impairment, normal developpement" "" "" "" "" "" "" "" "" "hearing impairment, normal developpement" "0000352402" "05611" "00467195" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352403" "05611" "00467196" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352404" "05611" "00467197" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352405" "05611" "00467198" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352406" "05611" "00467199" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352407" "05611" "00467200" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352408" "05611" "00467201" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352409" "05611" "00467202" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352410" "05611" "00467203" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352411" "05611" "00467204" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352412" "05611" "00467205" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352413" "05611" "00467206" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352414" "05611" "00467207" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352415" "05611" "00467208" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352416" "05611" "00467209" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352417" "05611" "00467210" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352418" "05611" "00467211" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352419" "05611" "00467212" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352420" "05611" "00467213" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI3" "neurodevelopmental disorder" "0000352421" "05611" "00467214" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI4" "neurodevelopmental disorder" "0000352422" "05611" "00467215" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI4" "neurodevelopmental disorder" "0000352423" "05611" "00467216" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI3" "neurodevelopmental disorder" "0000352424" "05611" "00467217" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI2" "neurodevelopmental disorder" "0000352425" "05611" "00467218" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI3" "neurodevelopmental disorder" "0000352426" "05611" "00467219" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI4" "neurodevelopmental disorder" "0000352427" "05611" "00467220" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI3" "neurodevelopmental disorder" "0000352428" "05611" "00467221" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI1" "neurodevelopmental disorder" "0000352429" "05611" "00467222" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI2" "neurodevelopmental disorder" "0000352430" "05611" "00467223" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI1" "neurodevelopmental disorder" "0000352431" "05611" "00467224" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI1" "neurodevelopmental disorder" "0000352432" "05611" "00467225" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352433" "05611" "00467226" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352434" "05611" "00467227" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352435" "05611" "00467228" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352436" "05611" "00467229" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352437" "05611" "00467230" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352438" "05611" "00467231" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352439" "05611" "00467232" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352440" "05611" "00467233" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352441" "05611" "00467234" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352442" "05611" "00467235" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352443" "05611" "00467236" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352444" "05611" "00467237" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352445" "05611" "00467238" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352446" "05611" "00467239" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352447" "00000" "00467240" "00006" "Familial, autosomal recessive" "" "see paper; ..., primary ovarian insufficiency" "" "" "" "" "" "" "" "OI11" "primary ovarian insufficiency" "0000352448" "05611" "00467241" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352449" "00000" "00467242" "00006" "Familial, autosomal recessive" "" "see paper; ..., chronic kidney disease, hearing impairment, macrocephaly" "" "" "" "" "" "" "" "" "chronic kidney disease, hearing impairment, macrocephaly" "0000352450" "05611" "00467243" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352451" "05611" "00467244" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352452" "05611" "00467245" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352453" "05611" "00467246" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352454" "05611" "00467247" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352455" "05611" "00467248" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352456" "05611" "00467249" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352457" "05611" "00467250" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352458" "05611" "00467251" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352459" "05611" "00467252" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352460" "05611" "00467253" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI6" "neurodevelopmental disorder" "0000352461" "05611" "00467254" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI6" "neurodevelopmental disorder" "0000352462" "05611" "00467255" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI6" "neurodevelopmental disorder" "0000352463" "05611" "00467256" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OI6" "neurodevelopmental disorder" "0000352464" "05611" "00467257" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352465" "05611" "00467258" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352466" "00000" "00467259" "00006" "Familial, autosomal recessive" "" "see paper; ..., fetus with ascites, megacystis, hepatosplenomegaly, dilated abdomen" "" "" "" "" "" "" "" "" "unknown (fetus with ascites, megacystis, hepatosplenomegaly, dilated abdomen)" "0000352467" "05611" "00467261" "00006" "Isolated (sporadic)" "5m3d" "see paper; ..., global developmental delay, intellectual disability, fine motor delay, seizures, eczema, respiratory infection" "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352468" "05611" "00467262" "00006" "Isolated (sporadic)" "1y20d" "see paper; ..., global developmental delay, ventricular septal defect, hypotonia" "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352469" "05611" "00467263" "00006" "Isolated (sporadic)" "6m11d" "see paper; ..., global developmental delay, hypotonia, gross motor delay; MRI brain symmetric hyperintensity bilateral globus pallidus, slightly widened extracerebral space right frontal lobe" "" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 201 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000456527" "00454914" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456528" "00454915" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456529" "00454916" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456530" "00454917" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456531" "00454918" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456532" "00454919" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456533" "00454920" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456534" "00454921" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456535" "00454922" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456536" "00454923" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456537" "00454924" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456538" "00454925" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456539" "00454926" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456540" "00454927" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456541" "00454928" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468726" "00467064" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468727" "00467065" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468728" "00467066" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468729" "00467067" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468730" "00467068" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468731" "00467069" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468732" "00467070" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468733" "00467071" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468734" "00467072" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468735" "00467073" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468745" "00467083" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468746" "00467084" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468747" "00467085" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468748" "00467086" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468749" "00467087" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468750" "00467088" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468751" "00467089" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468752" "00467090" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468753" "00467091" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468754" "00467092" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468755" "00467093" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468756" "00467094" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468757" "00467095" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468758" "00467096" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468759" "00467097" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468760" "00467098" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468761" "00467099" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468762" "00467100" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468763" "00467101" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468764" "00467102" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468765" "00467103" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468766" "00467104" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468767" "00467105" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468768" "00467106" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468769" "00467107" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468770" "00467108" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468771" "00467109" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468772" "00467110" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468773" "00467111" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468774" "00467112" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468775" "00467113" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468776" "00467114" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468777" "00467115" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468778" "00467116" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468779" "00467117" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468780" "00467118" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468781" "00467119" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468782" "00467120" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468783" "00467121" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468784" "00467122" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468785" "00467123" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468786" "00467124" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468787" "00467125" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468788" "00467126" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468789" "00467127" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468790" "00467128" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468791" "00467129" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468792" "00467130" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468793" "00467131" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468794" "00467132" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468795" "00467133" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468796" "00467134" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468797" "00467135" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468798" "00467136" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468799" "00467137" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468800" "00467138" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468801" "00467139" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468802" "00467140" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468803" "00467141" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468804" "00467142" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468805" "00467143" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468806" "00467144" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468807" "00467145" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468808" "00467146" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468809" "00467147" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468815" "00467152" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468816" "00467153" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468817" "00467154" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468818" "00467155" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468819" "00467156" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468820" "00467157" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468821" "00467158" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468822" "00467159" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468823" "00467160" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468824" "00467161" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468825" "00467162" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468826" "00467163" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468827" "00467164" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468828" "00467165" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468829" "00467166" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468830" "00467167" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468831" "00467168" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468832" "00467169" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468833" "00467170" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468834" "00467171" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468835" "00467172" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468836" "00467173" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468837" "00467174" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468838" "00467175" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468839" "00467176" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468840" "00467177" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468841" "00467178" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468842" "00467179" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468843" "00467180" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468844" "00467181" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468845" "00467182" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468846" "00467183" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468847" "00467184" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468848" "00467185" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468849" "00467186" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468850" "00467187" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468851" "00467188" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468852" "00467189" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468853" "00467190" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468854" "00467191" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468855" "00467192" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468856" "00467193" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468857" "00467194" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468858" "00467195" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468859" "00467196" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468860" "00467197" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468861" "00467198" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468862" "00467199" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468863" "00467200" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468864" "00467201" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468865" "00467202" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468866" "00467203" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468867" "00467204" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468868" "00467205" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468869" "00467206" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468870" "00467207" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468871" "00467208" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468872" "00467209" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468873" "00467210" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468874" "00467211" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468875" "00467212" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468876" "00467213" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468877" "00467214" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468878" "00467215" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468879" "00467216" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468880" "00467217" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468881" "00467218" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468882" "00467219" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468883" "00467220" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468884" "00467221" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468885" "00467222" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468886" "00467223" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468887" "00467224" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468888" "00467225" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468889" "00467226" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468890" "00467227" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468891" "00467228" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468892" "00467229" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468893" "00467230" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468894" "00467231" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468895" "00467232" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468896" "00467233" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468897" "00467234" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468898" "00467235" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468899" "00467236" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468900" "00467237" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468901" "00467238" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468902" "00467239" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468903" "00467240" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468904" "00467241" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468905" "00467242" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468906" "00467243" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468907" "00467244" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468908" "00467245" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468909" "00467246" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468910" "00467247" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468911" "00467248" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468912" "00467249" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468913" "00467250" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468914" "00467251" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468915" "00467252" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468916" "00467253" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468917" "00467254" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468918" "00467255" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468919" "00467256" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468920" "00467257" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468921" "00467258" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468922" "00467259" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468923" "00467261" "1" "00006" "00006" "2025-10-09 14:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468924" "00467262" "1" "00006" "00006" "2025-10-09 14:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468925" "00467263" "1" "00006" "00006" "2025-10-09 14:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 281 "{{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}}" "0001010212" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010213" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010214" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "variant not in mother" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010215" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010216" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010217" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001010218" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001010219" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.35A>G" "variant not in mother" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001010220" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001010221" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010222" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.35A>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841775T>G" "" "pathogenic (dominant)" "" "0001010223" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010224" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010225" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010226" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048656" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048657" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048658" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048659" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048660" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048661" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048662" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048663" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048664" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048665" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048675" "0" "90" "11" "62609279" "62609279" "subst" "0" "00006" "RNU2-2_000120" "g.62609279G>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.3C>A" "" "De novo" "" "" "0" "" "" "g.62841807G>T" "" "pathogenic (dominant)" "" "0001048676" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048677" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048678" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048679" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048680" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048681" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048682" "11" "90" "11" "62609279" "62609279" "subst" "0" "00006" "RNU2-2_000120" "g.62609279G>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.3C>A" "" "Germline" "" "" "0" "" "" "g.62841807G>T" "" "pathogenic (dominant)" "" "0001048683" "0" "90" "11" "62609279" "62609279" "subst" "0" "00006" "RNU2-2_000120" "g.62609279G>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.3C>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841807G>T" "" "pathogenic (dominant)" "" "0001048684" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048685" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048686" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048687" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048688" "0" "90" "11" "62609277" "62609277" "subst" "0" "00006" "RNU2-2_000118" "g.62609277G>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.5C>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841805G>T" "" "pathogenic (dominant)" "" "0001048689" "0" "90" "11" "62609277" "62609277" "subst" "0" "00006" "RNU2-2_000118" "g.62609277G>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.5C>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841805G>T" "" "pathogenic (dominant)" "" "0001048690" "0" "90" "11" "62609274" "62609275" "ins" "0" "00006" "RNU2-2_000116" "g.62609274_62609275insT" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.7_8insA" "" "De novo" "" "" "0" "" "" "g.62841802_62841803insT" "" "pathogenic (dominant)" "" "0001048691" "0" "90" "11" "62609274" "62609275" "ins" "0" "00006" "RNU2-2_000116" "g.62609274_62609275insT" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.7_8insA" "" "De novo" "" "" "0" "" "" "g.62841802_62841803insT" "" "pathogenic (dominant)" "" "0001048692" "21" "90" "11" "62609274" "62609275" "ins" "0" "00006" "RNU2-2_000116" "g.62609274_62609275insT" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.7_8insA" "" "Germline" "" "" "0" "" "" "g.62841802_62841803insT" "" "pathogenic (dominant)" "" "0001048693" "0" "90" "11" "62609274" "62609275" "ins" "0" "00006" "RNU2-2_000116" "g.62609274_62609275insT" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.7_8insA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841802_62841803insT" "" "pathogenic (dominant)" "" "0001048694" "0" "90" "11" "62609274" "62609275" "ins" "0" "00006" "RNU2-2_000116" "g.62609274_62609275insT" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.7_8insA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841802_62841803insT" "" "pathogenic (dominant)" "" "0001048695" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.35A>C" "" "De novo" "" "" "0" "" "" "g.62841775T>G" "" "pathogenic (dominant)" "" "0001048696" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.35A>C" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048697" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.35A>C" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048698" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.35A>C" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048699" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.35A>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048700" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.35A>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048701" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.35A>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048703" "1" "90" "11" "62609261" "62609264" "delins" "0" "00006" "RNU2-2_000110" "g.62609261_62609264delinsCCC" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.18_21delinsGGG" "" "Germline" "" "" "0" "" "" "g.62841789_62841792delinsCCC" "" "pathogenic (recessive)" "" "0001048704" "10" "90" "11" "62609263" "62609263" "subst" "0" "00006" "RNU2-2_000112" "g.62609263C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.19G>A" "" "Germline" "" "" "0" "" "" "g.62841791C>T" "" "pathogenic (recessive)" "" "0001048705" "0" "90" "11" "62609219" "62609219" "subst" "0" "00006" "RNU2-2_000080" "g.62609219C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.63G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841747C>T" "" "pathogenic (recessive)" "" "0001048706" "3" "90" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.20G>A" "" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "pathogenic (recessive)" "" "0001048707" "3" "90" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.20G>A" "" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "pathogenic (recessive)" "" "0001048708" "10" "90" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000083" "g.62609221G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.61C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841749G>A" "" "pathogenic (recessive)" "" "0001048709" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001048710" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001048711" "11" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001048712" "3" "90" "11" "62609218" "62609218" "subst" "0" "00006" "RNU2-2_000077" "g.62609218T>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.64A>G" "" "Germline" "" "" "0" "" "" "g.62841746T>C" "" "pathogenic (recessive)" "" "0001048713" "3" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.104T>C" "" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "pathogenic (recessive)" "" "0001048714" "3" "90" "11" "62609163" "62609174" "del" "0" "00006" "RNU2-2_000052" "g.62609163_62609174del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.116_127del" "" "Germline" "" "" "0" "" "" "g.62841691_62841702del" "" "pathogenic (recessive)" "" "0001048715" "3" "90" "11" "62609165" "62609165" "subst" "0" "00006" "RNU2-2_000053" "g.62609165A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.117T>C" "" "Germline" "" "" "0" "" "" "g.62841693A>G" "" "pathogenic (recessive)" "" "0001048716" "3" "90" "11" "62609155" "62609155" "subst" "0" "00006" "RNU2-2_000051" "g.62609155C>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.127G>C" "" "Germline" "" "" "0" "" "" "g.62841683C>G" "" "pathogenic (recessive)" "" "0001048717" "3" "90" "11" "62609116" "62609116" "subst" "0" "00006" "RNU2-2_000021" "g.62609116C>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.166G>C" "" "Germline" "" "" "0" "" "" "g.62841644C>G" "" "pathogenic (recessive)" "" "0001048718" "3" "90" "11" "62609101" "62609101" "subst" "0" "00006" "RNU2-2_000013" "g.62609101C>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.181G>C" "" "Germline" "" "" "0" "" "" "g.62841629C>G" "" "pathogenic (recessive)" "" "0001048719" "3" "90" "11" "62609099" "62609099" "subst" "0" "00006" "RNU2-2_000010" "g.62609099C>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.183G>C" "" "Germline" "" "" "0" "" "" "g.62841627C>G" "" "pathogenic (recessive)" "" "0001048720" "3" "90" "11" "62609099" "62609099" "subst" "0" "00006" "RNU2-2_000011" "g.62609099C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.183G>A" "" "Germline" "" "" "0" "" "" "g.62841627C>T" "" "pathogenic (recessive)" "" "0001048721" "11" "90" "11" "62609263" "62609263" "subst" "0" "00006" "RNU2-2_000112" "g.62609263C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.19G>A" "" "Germline" "" "" "0" "" "" "g.62841791C>T" "" "pathogenic (recessive)" "" "0001048722" "0" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.104T>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841706A>G" "" "pathogenic (recessive)" "" "0001048723" "11" "90" "11" "62609163" "62609174" "del" "0" "00006" "RNU2-2_000052" "g.62609163_62609174del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.116_127del" "" "Germline" "" "" "0" "" "" "g.62841691_62841702del" "" "pathogenic (recessive)" "" "0001048724" "11" "70" "11" "62609108" "62609125" "dup" "0" "00006" "RNU2-2_000020" "g.62609108_62609125dup" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.159_176dup" "" "Germline" "" "" "0" "" "" "g.62841636_62841653dup" "" "likely pathogenic (recessive)" "" "0001048725" "11" "70" "11" "62609092" "62609100" "del" "0" "00006" "RNU2-2_000008" "g.62609092_62609100del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.182_190del" "" "Germline" "" "" "0" "" "" "g.62841620_62841628del" "" "likely pathogenic (recessive)" "" "0001048726" "1" "70" "11" "62609274" "62609274" "subst" "0" "00006" "RNU2-2_000115" "g.62609274G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.8C>T" "" "Germline" "" "" "0" "" "" "g.62841802G>A" "" "likely pathogenic (recessive)" "" "0001048727" "1" "70" "11" "62609269" "62609269" "subst" "0" "00006" "RNU2-2_000113" "g.62609269G>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.13C>A" "" "Germline" "" "" "0" "" "" "g.62841797G>T" "" "likely pathogenic (recessive)" "" "0001048728" "1" "70" "11" "62609257" "62609257" "subst" "0" "00006" "RNU2-2_000106" "g.62609257C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.25G>A" "" "Germline" "" "" "0" "" "" "g.62841785C>T" "" "likely pathogenic (recessive)" "" "0001048729" "1" "70" "11" "62609254" "62609254" "subst" "0" "00006" "RNU2-2_000104" "g.62609254G>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.28C>G" "" "Germline" "" "" "0" "" "" "g.62841782G>C" "" "likely pathogenic (recessive)" "" "0001048730" "1" "70" "11" "62609243" "62609243" "subst" "0" "00006" "RNU2-2_000097" "g.62609243A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.39T>C" "" "Germline" "" "" "0" "" "" "g.62841771A>G" "" "likely pathogenic (recessive)" "" "0001048731" "1" "70" "11" "62609239" "62609239" "subst" "0" "00006" "RNU2-2_000093" "g.62609239A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.43T>C" "" "Germline" "" "" "0" "" "" "g.62841767A>G" "" "likely pathogenic (recessive)" "" "0001048732" "1" "70" "11" "62609234" "62609234" "subst" "0" "00006" "RNU2-2_000088" "g.62609234T>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.48A>G" "" "Germline" "" "" "0" "" "" "g.62841762T>C" "" "likely pathogenic (recessive)" "" "0001048733" "1" "90" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000083" "g.62609221G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.61C>T" "" "Germline" "" "" "0" "" "" "g.62841749G>A" "" "pathogenic (recessive)" "" "0001048734" "1" "70" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000084" "g.62609221G>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.61C>G" "" "Germline" "" "" "0" "" "" "g.62841749G>C" "" "likely pathogenic (recessive)" "" "0001048735" "1" "70" "11" "62609201" "62609201" "subst" "0" "00006" "RNU2-2_000070" "g.62609201C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.81G>A" "" "Germline" "" "" "0" "" "" "g.62841729C>T" "" "likely pathogenic (recessive)" "" "0001048736" "1" "70" "11" "62609153" "62609153" "subst" "0" "00006" "RNU2-2_000047" "g.62609153A>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.129T>G" "" "Germline" "" "" "0" "" "" "g.62841681A>C" "" "likely pathogenic (recessive)" "" "0001048737" "1" "70" "11" "62609153" "62609153" "subst" "0" "00006" "RNU2-2_000048" "g.62609153A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.129T>C" "" "Germline" "" "" "0" "" "" "g.62841681A>G" "" "likely pathogenic (recessive)" "" "0001048738" "1" "70" "11" "62609103" "62609111" "del" "0" "00006" "RNU2-2_000016" "g.62609103_62609111del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.171_179del" "" "Germline" "" "" "0" "" "" "g.62841631_62841639del" "" "likely pathogenic (recessive)" "" "0001048739" "2" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001048740" "21" "90" "11" "62609230" "62609230" "subst" "0" "00006" "RNU2-2_000085" "g.62609230C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.52G>A" "" "Germline" "" "" "0" "" "" "g.62841758C>T" "" "pathogenic (recessive)" "" "0001048741" "21" "90" "11" "62609263" "62609263" "subst" "0" "00006" "RNU2-2_000112" "g.62609263C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.19G>A" "" "Germline" "" "" "0" "" "" "g.62841791C>T" "" "pathogenic (recessive)" "" "0001048742" "21" "90" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.20G>A" "" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "pathogenic (recessive)" "" "0001048743" "2" "90" "11" "62609163" "62609174" "del" "0" "00006" "RNU2-2_000052" "g.62609163_62609174del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.116_127del" "" "Germline" "" "" "0" "" "" "g.62841691_62841702del" "" "pathogenic (recessive)" "" "0001048744" "2" "90" "11" "62609099" "62609099" "subst" "0" "00006" "RNU2-2_000011" "g.62609099C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.183G>A" "" "Germline" "" "" "0" "" "" "g.62841627C>T" "" "pathogenic (recessive)" "" "0001048745" "21" "50" "11" "62609215" "62609215" "subst" "0" "00006" "RNU2-2_000075" "g.62609215G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.67C>T;183_184insA" "" "Germline" "" "" "0" "" "" "g.62841743G>A" "" "VUS" "" "0001048746" "21" "70" "11" "62609098" "62609099" "ins" "0" "00006" "RNU2-2_000009" "g.62609098_62609099insT" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.67C>T;183_184insA" "" "Germline" "" "" "0" "" "" "g.62841626_62841627insT" "" "likely pathogenic (recessive)" "" "0001048747" "21" "70" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000062" "g.62609178A>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.104T>G" "" "Germline" "" "" "0" "" "" "g.62841706A>C" "" "likely pathogenic (recessive)" "" "0001048748" "21" "70" "11" "62609251" "62609251" "subst" "0" "00006" "RNU2-2_000102" "g.62609251C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.31G>A" "" "Germline" "" "" "0" "" "" "g.62841779C>T" "" "likely pathogenic (recessive)" "" "0001048749" "21" "70" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000065" "g.62609182A>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.100T>G" "" "Germline" "" "" "0" "" "" "g.62841710A>C" "" "likely pathogenic (recessive)" "" "0001048750" "21" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.104T>C" "" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "pathogenic (recessive)" "" "0001048751" "21" "70" "11" "62609134" "62609134" "subst" "0" "00006" "RNU2-2_000036" "g.62609134G>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.148C>A" "" "Germline" "" "" "0" "" "" "g.62841662G>T" "" "likely pathogenic (recessive)" "" "0001048752" "2" "70" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000062" "g.62609178A>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.104T>G" "" "Germline" "" "" "0" "" "" "g.62841706A>C" "" "likely pathogenic (recessive)" "" "0001048753" "2" "70" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000065" "g.62609182A>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.100T>G" "" "Germline" "" "" "0" "" "" "g.62841710A>C" "" "likely pathogenic (recessive)" "" "0001048754" "2" "70" "11" "62609151" "62609151" "subst" "0" "00006" "RNU2-2_000045" "g.62609151C>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.131G>C" "" "Germline" "" "" "0" "" "" "g.62841679C>G" "" "likely pathogenic (recessive)" "" "0001048755" "2" "70" "11" "62609124" "62609124" "subst" "0" "00006" "RNU2-2_000024" "g.62609124C>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.158G>C" "" "Germline" "" "" "0" "" "" "g.62841652C>G" "" "likely pathogenic (recessive)" "" "0001048756" "2" "70" "11" "62609202" "62609203" "ins" "0" "00006" "RNU2-2_000072" "g.62609202_62609203insA" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.79_80insT" "" "Germline" "" "" "0" "" "" "g.62841730_62841731insA" "" "likely pathogenic (recessive)" "" "0001048757" "2" "70" "11" "62609107" "62609107" "subst" "0" "00006" "RNU2-2_000018" "g.62609107C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.175G>A" "" "Germline" "" "" "0" "" "" "g.62841635C>T" "" "likely pathogenic (recessive)" "" "0001048758" "2" "70" "11" "62609176" "62609176" "subst" "0" "00006" "RNU2-2_000060" "g.62609176C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.106G>A" "" "Germline" "" "" "0" "" "" "g.62841704C>T" "" "likely pathogenic (recessive)" "" "0001048759" "2" "70" "11" "62609144" "62609144" "subst" "0" "00006" "RNU2-2_000041" "g.62609144G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.138C>T" "" "Germline" "" "" "0" "" "" "g.62841672G>A" "" "likely pathogenic (recessive)" "" "0001048760" "2" "70" "11" "62609065" "62609096" "del" "0" "00006" "RNU2-2_000006" "g.62609065_62609096del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "Germline" "" "" "0" "" "" "g.62841593_62841624del" "" "likely pathogenic (recessive)" "" "0001048761" "2" "70" "11" "62609130" "62609130" "subst" "0" "00006" "RNU2-2_000032" "g.62609130C>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.152G>T" "" "Germline" "" "" "0" "" "" "g.62841658C>A" "" "likely pathogenic (recessive)" "" "0001048762" "2" "70" "11" "62609127" "62609127" "subst" "0" "00006" "RNU2-2_000028" "g.62609127G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.155C>T" "" "Germline" "" "" "0" "" "" "g.62841655G>A" "" "likely pathogenic (recessive)" "" "0001048763" "2" "70" "11" "62609147" "62609147" "subst" "0" "00006" "RNU2-2_000043" "g.62609147G>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.135C>G" "" "Germline" "" "" "0" "" "" "g.62841675G>C" "" "likely pathogenic (recessive)" "" "0001048764" "2" "70" "11" "62609088" "62609113" "del" "0" "00006" "RNU2-2_000007" "g.62609088_62609113del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "g.62841615_62841640del" "" "Germline" "" "" "0" "" "" "g.62841616_62841641del" "" "likely pathogenic (recessive)" "" "0001048765" "11" "70" "11" "62609108" "62609125" "dup" "0" "00006" "RNU2-2_000020" "g.62609108_62609125dup" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.159_176dup" "" "Germline" "" "" "0" "" "" "g.62841636_62841653dup" "" "likely pathogenic (recessive)" "" "0001048766" "21" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.104T>C" "" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "pathogenic (recessive)" "" "0001048767" "11" "70" "11" "62609092" "62609100" "del" "0" "00006" "RNU2-2_000008" "g.62609092_62609100del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.182_190del" "" "Germline" "" "" "0" "" "" "g.62841620_62841628del" "" "likely pathogenic (recessive)" "" "0001048768" "21" "70" "11" "62609134" "62609134" "subst" "0" "00006" "RNU2-2_000036" "g.62609134G>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.148C>A" "" "Germline" "" "" "0" "" "" "g.62841662G>T" "" "likely pathogenic (recessive)" "" "0001048800" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048801" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048802" "2" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; de novo variant on maternal allele" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048803" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048804" "21" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; de novo variant on maternal allele" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048805" "21" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; de novo variant on maternal allele" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048806" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048807" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048808" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048809" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048810" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048811" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048812" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048813" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048814" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048815" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048816" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048817" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048818" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; somatic variant (blood 0.1 (678/5218 reads), urine 0.20 (1181/5659 reads), buccal 0.25 (574/2267 reads)" "Somatic" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048819" "21" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; de novo variant on maternal allele" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048820" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048821" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048822" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048823" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048824" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048825" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048826" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048827" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048828" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048829" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048830" "0" "70" "11" "62609276" "62609276" "subst" "0" "00006" "RNU2-2_000117" "g.62609276A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.6T>C" "ACMG PS2_supp, PM1, PM2_supp, PM3, PS4_supp; de novo variant on maternal allele" "De novo" "" "" "0" "" "" "g.62841804A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048831" "0" "50" "11" "62609274" "62609275" "ins" "0" "00006" "RNU2-2_000116" "g.62609274_62609275insT" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.7_8insA" "ACMG PS2_supp, PM1, PM2_supp, PS4_supp" "De novo" "" "" "0" "" "" "g.62841802_62841803insT" "" "VUS" "ACMG" "0001048832" "0" "50" "11" "62609274" "62609274" "subst" "0" "00006" "RNU2-2_000115" "g.62609274G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.8C>T" "ACMG PS2_supp, PM1, PM2_supp" "De novo" "" "" "0" "" "" "g.62841802G>A" "" "VUS" "ACMG" "0001048833" "0" "50" "11" "62609261" "62609261" "subst" "0" "00006" "RNU2-2_000109" "g.62609261G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.21C>G" "ACMG PS2_supp, PM1, PM2_supp" "De novo" "" "" "0" "" "" "g.62841789G>C" "" "VUS" "ACMG" "0001048834" "0" "50" "11" "62609244" "62609244" "subst" "0" "00006" "RNU2-2_000098" "g.62609244T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.38A>G" "ACMG PS2_supp, PM1, PM2_supp" "De novo" "" "" "0" "" "" "g.62841772T>C" "" "VUS" "ACMG" "0001048835" "0" "90" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000095" "g.62609242G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>T" "ACMG PS4, PS2_supp, PM1, PM3, PP1; de novo variant on maternal allele" "De novo" "" "" "0" "" "" "g.62841770G>A" "" "pathogenic" "ACMG" "0001048836" "0" "90" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000095" "g.62609242G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>T" "ACMG PS4, PS2_supp, PM1, PM3, PP1" "De novo" "" "" "0" "" "" "g.62841770G>A" "" "pathogenic" "ACMG" "0001048837" "0" "70" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000096" "g.62609242G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>G" "ACMG PS4, PS2_supp, PM1, PP1" "De novo" "" "" "0" "" "" "g.62841770G>C" "" "likely pathogenic" "ACMG" "0001048838" "0" "50" "11" "62609220" "62609220" "subst" "0" "00006" "RNU2-2_000082" "g.62609220A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.62T>G" "ACMG PS2_supp, PM1_supp, PM2_supp" "De novo" "" "" "0" "" "" "g.62841748A>C" "" "VUS" "ACMG" "0001048839" "0" "50" "11" "62609218" "62609219" "ins" "0" "00006" "RNU2-2_000078" "g.62609218_62609219insG" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.63_64insC" "ACMG PS2_supp, PM1_supp, PM2_supp" "De novo" "" "" "0" "" "" "g.62841746_62841747insG" "" "VUS" "ACMG" "0001048840" "0" "50" "11" "62609173" "62609173" "subst" "0" "00006" "RNU2-2_000058" "g.62609173T>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.109A>T" "ACMG PS2_supp, PM2_supp" "De novo" "" "" "0" "" "" "g.62841701T>A" "" "VUS" "ACMG" "0001048841" "0" "50" "11" "62609144" "62609154" "del" "0" "00006" "RNU2-2_000042" "g.62609144_62609154del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.129_139del" "ACMG PM1_supp, PS2_supp, PM2_supp; de novo variant on paternal allele" "De novo" "" "" "0" "" "" "g.62841672_62841682del" "" "VUS" "ACMG" "0001048842" "0" "50" "11" "62609116" "62609140" "del" "0" "00006" "RNU2-2_000022" "g.62609116_62609140del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.143_167del" "ACMG PS2_supp, PM1_supp, PM2_supp; de novo variant on paternal allele" "De novo" "" "" "0" "" "" "g.62841644_62841668del" "" "VUS" "ACMG" "0001048843" "0" "50" "11" "62609132" "62609132" "subst" "0" "00006" "RNU2-2_000034" "g.62609132A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.150T>G" "ACMG PM1_supp, PS2_supp, PM2_supp" "De novo" "" "" "0" "" "" "g.62841660A>C" "" "VUS" "ACMG" "0001048844" "0" "50" "11" "62609277" "62609277" "subst" "0" "00006" "RNU2-2_000118" "g.62609277G>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.5C>A" "ACMG PS2_supp, PM1, PM2_supp" "De novo" "" "" "0" "" "" "g.62841805G>T" "" "VUS" "ACMG" "0001048845" "2" "50" "11" "62609277" "62609277" "subst" "0" "00006" "RNU2-2_000119" "g.62609277G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.5C>T" "ACMG PM1, PM2_supp" "Germline" "" "" "0" "" "" "g.62841805G>A" "" "VUS" "ACMG" "0001048846" "0" "70" "11" "62609276" "62609276" "subst" "0" "00006" "RNU2-2_000117" "g.62609276A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.6T>C" "ACMG PS2_supp, PM1, PM2_supp, PM3, PS4_supp" "De novo" "" "" "0" "" "" "g.62841804A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048847" "0" "50" "11" "62609274" "62609275" "ins" "0" "00006" "RNU2-2_000116" "g.62609274_62609275insT" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.7_8insA" "ACMG PS2_supp, PM1, PM2_supp, PS4_supp" "De novo" "" "" "0" "" "" "g.62841802_62841803insT" "" "VUS" "ACMG" "0001048848" "1" "50" "11" "62609269" "62609269" "subst" "0" "00006" "RNU2-2_000114" "g.62609269G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.13C>T" "ACMG PS2_supp, PM1" "Germline" "" "" "0" "" "" "g.62841797G>A" "" "VUS" "ACMG" "0001048849" "0" "50" "11" "62609269" "62609269" "subst" "0" "00006" "RNU2-2_000114" "g.62609269G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.13C>T" "ACMG PS2_supp, PM1; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841797G>A" "" "VUS" "ACMG" "0001048850" "3" "50" "11" "62609247" "62609265" "dup" "0" "00006" "RNU2-2_000099" "g.62609247_62609265dup" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.17_35dup" "ACMG PM1, PM2_supp, PP1" "Germline" "" "" "0" "" "" "g.62841775_62841793dup" "" "VUS" "ACMG" "0001048851" "2" "70" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.20G>A" "ACMG PS4, PM1" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "likely pathogenic (recessive)" "ACMG" "0001048852" "2" "70" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.20G>A" "ACMG PS4, PM1" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "likely pathogenic (recessive)" "ACMG" "0001048853" "1" "70" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.20G>A" "ACMG PS4, PM1" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "likely pathogenic (recessive)" "ACMG" "0001048854" "2" "70" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.20G>A" "ACMG PS4, PM1" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "likely pathogenic (recessive)" "ACMG" "0001048855" "1" "50" "11" "62609258" "62609258" "subst" "0" "00006" "RNU2-2_000107" "g.62609258T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.24A>G" "ACMG PM1, PM2_supp, PP1" "Germline" "" "" "0" "" "" "g.62841786T>C" "" "VUS" "ACMG" "0001048856" "3" "50" "11" "62609257" "62609257" "subst" "0" "00006" "RNU2-2_000106" "g.62609257C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.25G>A" "ACMG PS4_Moderate, PM1" "Germline" "" "" "0" "" "" "g.62841785C>T" "" "VUS" "ACMG" "0001048857" "3" "50" "11" "62609257" "62609257" "subst" "0" "00006" "RNU2-2_000106" "g.62609257C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.25G>A" "ACMG PS4_Moderate, PM1" "Germline" "" "" "0" "" "" "g.62841785C>T" "" "VUS" "ACMG" "0001048858" "2" "50" "11" "62609257" "62609257" "subst" "0" "00006" "RNU2-2_000106" "g.62609257C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.25G>A" "ACMG PS4_Moderate, PM1" "Germline" "" "" "0" "" "" "g.62841785C>T" "" "VUS" "ACMG" "0001048859" "1" "50" "11" "62609256" "62609256" "subst" "0" "00006" "RNU2-2_000105" "g.62609256T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.26A>G" "ACMG PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841784T>C" "" "VUS" "ACMG" "0001048860" "0" "70" "11" "62609254" "62609254" "subst" "0" "00006" "RNU2-2_000104" "g.62609254G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.28C>G" "ACMG PS4_Moderate, PM1, PM3, PP1; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841782G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048861" "1" "70" "11" "62609254" "62609254" "subst" "0" "00006" "RNU2-2_000104" "g.62609254G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.28C>G" "ACMG PS4_Moderate, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841782G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048862" "3" "50" "11" "62609252" "62609252" "subst" "0" "00006" "RNU2-2_000103" "g.62609252T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.30A>G" "ACMG PM1, PM2_supp" "Germline" "" "" "0" "" "" "g.62841780T>C" "" "VUS" "ACMG" "0001048863" "0" "50" "11" "62609251" "62609251" "subst" "0" "00006" "RNU2-2_000102" "g.62609251C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.31G>A" "ACMG PS2_supp, PM1, PM2_supp" "De novo" "" "" "0" "" "" "g.62841779C>T" "" "VUS" "ACMG" "0001048864" "2" "50" "11" "62609251" "62609251" "subst" "0" "00006" "RNU2-2_000102" "g.62609251C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.31G>A" "ACMG PS2_supp, PM1, PM2_supp" "Germline" "" "" "0" "" "" "g.62841779C>T" "" "VUS" "ACMG" "0001048865" "0" "70" "11" "62609250" "62609250" "subst" "0" "00006" "RNU2-2_000100" "g.62609250A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.32T>G" "ACMG PS2_supp, PM1, PM2_supp, PM3, PS4_supp, PP1" "De novo" "" "" "0" "" "" "g.62841778A>C" "" "likely pathogenic (recessive)" "ACMG" "0001048866" "2" "70" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000096" "g.62609242G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>G" "ACMG PS4, PS2_supp, PM1, PP1" "Germline" "" "" "0" "" "" "g.62841770G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048867" "0" "90" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000095" "g.62609242G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>T" "ACMG PS4, PS2_supp, PM1, PM3, PP1" "De novo" "" "" "0" "" "" "g.62841770G>A" "" "pathogenic (recessive)" "ACMG" "0001048868" "1" "70" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000096" "g.62609242G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>G" "ACMG PS4, PS2_supp, PM1, PP1" "Germline" "" "" "0" "" "" "g.62841770G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048869" "1" "70" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000096" "g.62609242G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>G" "ACMG PS4, PS2_supp, PM1, PP1" "Germline" "" "" "0" "" "" "g.62841770G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048870" "2" "70" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000096" "g.62609242G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>G" "ACMG PS4, PS2_supp, PM1, PP1" "Germline" "" "" "0" "" "" "g.62841770G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048871" "2" "90" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000095" "g.62609242G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>T" "ACMG PS4, PS2_supp, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841770G>A" "" "pathogenic (recessive)" "ACMG" "0001048872" "1" "50" "11" "62609238" "62609238" "subst" "0" "00006" "RNU2-2_000092" "g.62609238A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.44T>C" "ACMG PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841766A>G" "" "VUS" "ACMG" "0001048873" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048874" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048875" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048876" "0" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048877" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048878" "3" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048879" "3" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048880" "0" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048881" "2" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048882" "1" "50" "11" "62609236" "62609236" "subst" "0" "00006" "RNU2-2_000090" "g.62609236A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.46T>G" "ACMG PM2_supp" "Germline" "" "" "0" "" "" "g.62841764A>C" "" "VUS" "ACMG" "0001048883" "1" "50" "11" "62609234" "62609234" "subst" "0" "00006" "RNU2-2_000089" "g.62609234T>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.48A>C" "ACMG PM2_supp, PM1_supp" "Germline" "" "" "0" "" "" "g.62841762T>G" "" "VUS" "ACMG" "0001048884" "3" "70" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000084" "g.62609221G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.61C>G" "ACMG PS4_Moderate, PM1_supp, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841749G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048885" "1" "70" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000084" "g.62609221G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.61C>G" "ACMG PS4_Moderate, PM1_supp, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841749G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048886" "2" "50" "11" "62609218" "62609219" "ins" "0" "00006" "RNU2-2_000079" "g.62609218_62609219insA" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.63_64insT" "ACMG PM1_supp, PP1" "Germline" "" "" "0" "" "" "g.62841746_62841747insA" "" "VUS" "ACMG" "0001048887" "1" "50" "11" "62609202" "62609209" "dup" "0" "00006" "RNU2-2_000073" "g.62609202_62609209dup" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.73_80dup" "ACMG PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841730_62841737dup" "" "VUS" "ACMG" "0001048888" "3" "50" "11" "62609186" "62609186" "subst" "0" "00006" "RNU2-2_000069" "g.62609186A>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.96T>A" "ACMG PM2_supp" "Germline" "" "" "0" "" "" "g.62841714A>T" "" "VUS" "ACMG" "0001048889" "3" "50" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000065" "g.62609182A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.100T>G" "ACMG PS2_supp, PM1, PP1" "Germline" "" "" "0" "" "" "g.62841710A>C" "" "VUS" "ACMG" "0001048890" "2" "50" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000066" "g.62609182A>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.100T>A" "ACMG PM1" "Germline" "" "" "0" "" "" "g.62841710A>T" "" "VUS" "ACMG" "0001048891" "3" "70" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.104T>C" "ACMG PS4_Moderate, PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048892" "3" "70" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000062" "g.62609178A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.104T>G" "ACMG PS4_Moderate, PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841706A>C" "" "likely pathogenic (recessive)" "ACMG" "0001048893" "2" "70" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000062" "g.62609178A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.104T>G" "ACMG PS4_Moderate, PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841706A>C" "" "likely pathogenic (recessive)" "ACMG" "0001048894" "2" "70" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.104T>C" "ACMG PS4_Moderate, PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048895" "1" "50" "11" "62609165" "62609176" "del" "0" "00006" "RNU2-2_000054" "g.62609165_62609176del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.107_118del" "ACMG PS4_Moderate, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841693_62841704del" "" "VUS" "ACMG" "0001048896" "3" "50" "11" "62609165" "62609176" "del" "0" "00006" "RNU2-2_000054" "g.62609165_62609176del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.107_118del" "ACMG PS4_Moderate, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841693_62841704del" "" "VUS" "ACMG" "0001048897" "1" "50" "11" "62609165" "62609176" "del" "0" "00006" "RNU2-2_000054" "g.62609165_62609176del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.107_118del" "ACMG PS4_Moderate, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841693_62841704del" "" "VUS" "ACMG" "0001048898" "1" "50" "11" "62609165" "62609176" "del" "0" "00006" "RNU2-2_000054" "g.62609165_62609176del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.107_118del" "ACMG PS4_Moderate, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841693_62841704del" "" "VUS" "ACMG" "0001048899" "1" "50" "11" "62609163" "62609174" "del" "0" "00006" "RNU2-2_000052" "g.62609163_62609174del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.116_127del" "ACMG PS2_supp" "Germline" "" "" "0" "" "" "g.62841691_62841702del" "" "VUS" "ACMG" "0001048900" "2" "50" "11" "62609163" "62609174" "del" "0" "00006" "RNU2-2_000052" "g.62609163_62609174del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.116_127del" "ACMG PS2_supp" "Germline" "" "" "0" "" "" "g.62841691_62841702del" "" "VUS" "ACMG" "0001048901" "3" "50" "11" "62609154" "62609154" "subst" "0" "00006" "RNU2-2_000049" "g.62609154G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.128C>T" "ACMG PS2_supp, PM1_supp" "Germline" "" "" "0" "" "" "g.62841682G>A" "" "VUS" "ACMG" "0001048902" "3" "50" "11" "62609129" "62609140" "dup" "0" "00006" "RNU2-2_000031" "g.62609129_62609140dup" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.142_153dup" "ACMG PM1_supp, PM2_supp" "Germline" "" "" "0" "" "" "g.62841657_62841668dup" "" "VUS" "ACMG" "0001048903" "0" "50" "11" "62609140" "62609140" "subst" "0" "00006" "RNU2-2_000040" "g.62609140A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.142T>C" "ACMG PM1_supp" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841668A>G" "" "VUS" "ACMG" "0001048904" "2" "50" "11" "62609133" "62609133" "subst" "0" "00006" "RNU2-2_000035" "g.62609133T>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.149A>T" "ACMG PM1_supp, PP1" "Germline" "" "" "0" "" "" "g.62841661T>A" "" "VUS" "ACMG" "0001048905" "3" "50" "11" "62609130" "62609130" "subst" "0" "00006" "RNU2-2_000033" "g.62609130C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.152G>A" "ACMG PM1_supp, PP1" "Germline" "" "" "0" "" "" "g.62841658C>T" "" "VUS" "ACMG" "0001048906" "3" "50" "11" "62609167" "62609167" "subst" "0" "00006" "RNU2-2_000056" "g.62609167C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.[115G>A;155C>G]" "" "Germline" "" "" "0" "" "" "g.62841695C>T" "" "VUS" "" "0001048907" "1" "50" "11" "62609108" "62609108" "subst" "0" "00006" "RNU2-2_000019" "g.62609108T>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.174A>C" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841636T>G" "" "VUS" "ACMG" "0001048908" "1" "50" "11" "62609202" "62609202" "subst" "0" "00006" "RNU2-2_000071" "g.62609202T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.80A>G" "ACMG PS2_supp" "Germline" "" "" "0" "" "" "g.62841730T>C" "" "VUS" "ACMG" "0001048909" "1" "50" "11" "62609173" "62609173" "subst" "0" "00006" "RNU2-2_000059" "g.62609173T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.109A>G" "ACMG PS2_supp, PM1, PM2_supp, PP1" "Germline" "" "" "0" "" "" "g.62841701T>C" "" "VUS" "ACMG" "0001048910" "0" "50" "11" "62609139" "62609139" "subst" "0" "00006" "RNU2-2_000039" "g.62609139G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.143C>G" "ACMG PM1_supp; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841667G>C" "" "VUS" "ACMG" "0001048911" "11" "50" "11" "62609210" "62609218" "dup" "0" "00006" "RNU2-2_000074" "g.62609210_62609218dup" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.64_72dup" "ACMG PM1_supp, PM2_supp" "Germline" "" "" "0" "" "" "g.62841738_62841746dup" "" "VUS" "ACMG" "0001048912" "2" "70" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000067" "g.62609182A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.100T>C" "ACMG PS4_Moderate, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841710A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048913" "1" "50" "11" "62609137" "62609137" "subst" "0" "00006" "RNU2-2_000037" "g.62609137T>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.145A>T" "ACMG PM1_supp, PM2_supp" "Germline" "" "" "0" "" "" "g.62841665T>A" "" "VUS" "ACMG" "0001048914" "2" "50" "11" "62609259" "62609259" "subst" "0" "00006" "RNU2-2_000108" "g.62609259T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.23A>G" "ACMG PM1, PM2_supp" "Germline" "" "" "0" "" "" "g.62841787T>C" "" "VUS" "ACMG" "0001048915" "2" "50" "11" "62609181" "62609181" "subst" "0" "00006" "RNU2-2_000064" "g.62609181A>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.101T>A" "ACMG PM1" "Germline" "" "" "0" "" "" "g.62841709A>T" "" "VUS" "ACMG" "0001048916" "1" "70" "11" "62609254" "62609254" "subst" "0" "00006" "RNU2-2_000104" "g.62609254G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.28C>G" "ACMG PS4_Moderate, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841782G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048917" "1" "50" "11" "62609250" "62609250" "subst" "0" "00006" "RNU2-2_000101" "g.62609250A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.32T>C" "ACMG PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841778A>G" "" "VUS" "ACMG" "0001048918" "2" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048919" "0" "50" "11" "62609137" "62609137" "subst" "0" "00006" "RNU2-2_000038" "g.62609137T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.145A>G" "ACMG PM1_supp, PM3; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841665T>C" "" "VUS" "ACMG" "0001048920" "2" "50" "11" "62609154" "62609154" "subst" "0" "00006" "RNU2-2_000049" "g.62609154G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.128C>T" "ACMG PS2_supp, PM1_supp" "Germline" "" "" "0" "" "" "g.62841682G>A" "" "VUS" "ACMG" "0001048921" "1" "50" "11" "62609120" "62609124" "del" "0" "00006" "RNU2-2_000023" "g.62609120_62609124del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.159_163del" "ACMG PM1_supp, PM2_supp" "Germline" "" "" "0" "" "" "g.62841648_62841652del" "" "VUS" "ACMG" "0001048922" "2" "70" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000067" "g.62609182A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.100T>C" "ACMG PS4_Moderate, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841710A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048923" "2" "70" "11" "62609250" "62609250" "subst" "0" "00006" "RNU2-2_000100" "g.62609250A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.32T>G" "ACMG PS2_supp, PM1, PM2_supp, PM3, PS4_supp, PP1" "Germline" "" "" "0" "" "" "g.62841778A>C" "" "likely pathogenic (recessive)" "ACMG" "0001048924" "2" "90" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000095" "g.62609242G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>T" "ACMG PS4, PS2_supp, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841770G>A" "" "pathogenic (recessive)" "ACMG" "0001048925" "1" "50" "11" "62609107" "62609107" "subst" "0" "00006" "RNU2-2_000018" "g.62609107C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.175G>A" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841635C>T" "" "VUS" "ACMG" "0001048926" "1" "50" "11" "62609101" "62609101" "subst" "0" "00006" "RNU2-2_000013" "g.62609101C>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.181G>C" "ACMG PS2_supp, PM1_supp, PM3" "Germline" "" "" "0" "" "" "g.62841629C>G" "" "VUS" "ACMG" "0001048927" "2" "50" "11" "62609183" "62609183" "subst" "0" "00006" "RNU2-2_000068" "g.62609183T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.99A>G" "ACMG PM1, PM3, BS2" "Germline" "" "" "0" "" "" "g.62841711T>C" "" "VUS" "ACMG" "0001048928" "1" "50" "11" "62609240" "62609240" "subst" "0" "00006" "RNU2-2_000094" "g.62609240C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.42G>A" "ACMG PM1, PM3, PM2_supp" "Germline" "" "" "0" "" "" "g.62841768C>T" "" "VUS" "ACMG" "0001048929" "2" "70" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000084" "g.62609221G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.61C>G" "ACMG PS4_Moderate, PM1_supp, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841749G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048930" "2" "70" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.104T>C" "ACMG PS4_Moderate, PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048931" "0" "50" "11" "62609169" "62609169" "subst" "0" "00006" "RNU2-2_000057" "g.62609169C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.113G>A" "ACMG PM3; variant not in parent 1" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841697C>T" "" "VUS" "ACMG" "0001048932" "1" "50" "11" "62609150" "62609150" "subst" "0" "00006" "RNU2-2_000044" "g.62609150G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.132C>T" "ACMG PM1_supp, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841678G>A" "" "VUS" "ACMG" "0001048933" "1" "50" "11" "62609099" "62609099" "subst" "0" "00006" "RNU2-2_000012" "g.62609099C>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.183G>T" "ACMG PM1_supp, PM2_supp, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841627C>A" "" "VUS" "ACMG" "0001048934" "2" "70" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.[20G>A;49T>C]" "ACMG PS4, PM1" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "likely pathogenic (recessive)" "ACMG" "0001048935" "2" "50" "11" "62609233" "62609233" "subst" "0" "00006" "RNU2-2_000087" "g.62609233A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.[20G>A;49T>C]" "" "Germline" "" "" "0" "" "" "g.62841761A>G" "" "VUS" "" "0001048936" "2" "70" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000067" "g.62609182A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.100T>C" "ACMG PS4_Moderate, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841710A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048937" "2" "50" "11" "62609180" "62609181" "delins" "0" "00006" "RNU2-2_000063" "g.62609180_62609181delinsCT" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.101_102delinsAG" "ACMG PM1, PM3, PM2_supp" "Germline" "" "" "0" "" "" "g.62841708_62841709delinsCT" "" "VUS" "ACMG" "0001048938" "2" "50" "11" "62609154" "62609154" "subst" "0" "00006" "RNU2-2_000050" "g.62609154G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.128C>G" "ACMG PM1_supp, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841682G>C" "" "VUS" "ACMG" "0001048939" "2" "50" "11" "62609153" "62609153" "subst" "0" "00006" "RNU2-2_000047" "g.62609153A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.129T>G" "ACMG PM1_supp, PM2_supp, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841681A>C" "" "VUS" "ACMG" "0001048940" "2" "50" "11" "62609151" "62609151" "subst" "0" "00006" "RNU2-2_000046" "g.62609151C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.131G>A" "ACMG PM1_supp, PM3" "Germline" "" "" "0" "" "" "g.62841679C>T" "" "VUS" "ACMG" "0001048941" "2" "50" "11" "62609219" "62609219" "subst" "0" "00006" "RNU2-2_000081" "g.62609219C>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.63G>C" "ACMG PM2_supp, PM1_supp, PM3" "Germline" "" "" "0" "" "" "g.62841747C>G" "" "VUS" "ACMG" "0001048942" "1" "50" "11" "62609126" "62609138" "del" "0" "00006" "RNU2-2_000027" "g.62609126_62609138del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.144_156del" "ACMG PM1_supp, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841654_62841666del" "" "VUS" "ACMG" "0001048943" "2" "50" "11" "62609101" "62609101" "subst" "0" "00006" "RNU2-2_000014" "g.62609101C>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.181G>T" "ACMG PM1_supp, PM2_supp" "Germline" "" "" "0" "" "" "g.62841629C>A" "" "VUS" "ACMG" "0001048944" "2" "50" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000083" "g.62609221G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.61C>T" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841749G>A" "" "VUS" "ACMG" "0001048945" "2" "50" "11" "62609101" "62609101" "subst" "0" "00006" "RNU2-2_000013" "g.62609101C>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.181G>C" "ACMG PS2_supp, PM1_supp, PM3" "Germline" "" "" "0" "" "" "g.62841629C>G" "" "VUS" "ACMG" "0001048946" "1" "50" "11" "62609216" "62609216" "subst" "0" "00006" "RNU2-2_000076" "g.62609216T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.66A>G" "ACMG PM1_supp, PP1" "Germline" "" "" "0" "" "" "g.62841744T>C" "" "VUS" "ACMG" "0001048947" "2" "70" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000067" "g.62609182A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.100T>C" "ACMG PS4_Moderate, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841710A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048948" "1" "50" "11" "62609102" "62609102" "subst" "0" "00006" "RNU2-2_000015" "g.62609102C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.180G>A" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841630C>T" "" "VUS" "ACMG" "0001048949" "1" "50" "11" "62609125" "62609125" "subst" "0" "00006" "RNU2-2_000025" "g.62609125C>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.157G>C" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841653C>G" "" "VUS" "ACMG" "0001048950" "1" "90" "11" "62607921" "62609235" "del" "0" "00006" "RNU2-2_000005" "g.62607921_62609235del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "del 62840448-62841762 (n.-1_*1176del)" "partial gene deletion" "Germline" "" "" "0" "" "" "g.62840449_62841763del" "" "pathogenic (recessive)" "" "0001048951" "2" "50" "11" "62609166" "62609177" "del" "0" "00006" "RNU2-2_000055" "g.62609166_62609177del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.105_116del" "ACMG PM2_supp" "Germline" "" "" "0" "" "" "g.62841694_62841705del" "" "VUS" "ACMG" "0001048952" "2" "50" "11" "62609128" "62609128" "subst" "0" "00006" "RNU2-2_000030" "g.62609128G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.154C>T" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841656G>A" "" "VUS" "ACMG" "0001048953" "2" "50" "11" "62609125" "62609125" "subst" "0" "00006" "RNU2-2_000026" "g.62609125C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.157G>A" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841653C>T" "" "VUS" "ACMG" "0001048954" "2" "50" "11" "62609232" "62609232" "subst" "0" "00006" "RNU2-2_000086" "g.62609232G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.50C>G" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841760G>C" "" "VUS" "ACMG" "0001048955" "0" "50" "11" "62609099" "62609099" "subst" "0" "00006" "RNU2-2_000011" "g.62609099C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.183G>A" "ACMG PM1_supp; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841627C>T" "" "VUS" "ACMG" "0001048956" "0" "50" "11" "62609202" "62609202" "subst" "0" "00006" "RNU2-2_000071" "g.62609202T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.80A>G" "ACMG PS2_supp" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841730T>C" "" "VUS" "ACMG" "0001048957" "2" "90" "11" "62549272" "63191965" "del" "0" "00006" "RNU2-2_000004" "g.62549272_63191965del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "del 62781800-63424493" "642kb whole gene deletion" "Germline" "" "" "0" "" "" "g.62781800_63424493del" "" "pathogenic (recessive)" "" "0001048958" "2" "50" "11" "62609106" "62609106" "subst" "0" "00006" "RNU2-2_000017" "g.62609106C>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.176G>C" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841634C>G" "" "VUS" "ACMG" "0001048959" "3" "50" "11" "62609127" "62609127" "subst" "0" "00006" "RNU2-2_000029" "g.62609127G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.[115G>A;155C>G]" "ACMG PM1_supp, PM2_supp, PP1" "Germline" "" "" "0" "" "" "g.62841655G>C" "" "VUS" "ACMG" "0001048960" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Fan 2025:40968615}, {DOI:Fan 2025:10.1111/cge.70069}" "" "n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048961" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Fan 2025:40968615}, {DOI:Fan 2025:10.1111/cge.70069}" "" "n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048962" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Fan 2025:40968615}, {DOI:Fan 2025:10.1111/cge.70069}" "" "n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" ## 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 RNU2-2 ## Count = 281 "{{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}}" "0001010212" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010213" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010214" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010215" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010216" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010217" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001010218" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001010219" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001010220" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001010221" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010222" "00017968" "90" "0" "0" "0" "0" "n.-14A>C" "r.(?)" "-" "" "0001010223" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010224" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010225" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010226" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048656" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048657" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048658" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048659" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048660" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048661" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048662" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048663" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048664" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048665" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048675" "00017968" "90" "0" "0" "0" "0" "n.-46C>A" "r.(?)" "-" "" "0001048676" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048677" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048678" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048679" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048680" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048681" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048682" "00017968" "90" "0" "0" "0" "0" "n.-46C>A" "r.(?)" "-" "" "0001048683" "00017968" "90" "0" "0" "0" "0" "n.-46C>A" "r.(?)" "-" "" "0001048684" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048685" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048686" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048687" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048688" "00017968" "90" "0" "0" "0" "0" "n.-44C>A" "r.(?)" "-" "" "0001048689" "00017968" "90" "0" "0" "0" "0" "n.-44C>A" "r.(?)" "-" "" "0001048690" "00017968" "90" "0" "0" "0" "0" "n.-42_-41insA" "r.(?)" "-" "" "0001048691" "00017968" "90" "0" "0" "0" "0" "n.-42_-41insA" "r.(?)" "-" "" "0001048692" "00017968" "90" "0" "0" "0" "0" "n.-42_-41insA" "r.(?)" "-" "" "0001048693" "00017968" "90" "0" "0" "0" "0" "n.-42_-41insA" "r.(?)" "-" "" "0001048694" "00017968" "90" "0" "0" "0" "0" "n.-42_-41insA" "r.(?)" "-" "" "0001048695" "00017968" "90" "0" "0" "0" "0" "n.-14A>C" "r.(?)" "-" "" "0001048696" "00017968" "90" "0" "0" "0" "0" "n.-14A>C" "r.(?)" "-" "" "0001048697" "00017968" "90" "0" "0" "0" "0" "n.-14A>C" "r.(?)" "-" "" "0001048698" "00017968" "90" "0" "0" "0" "0" "n.-14A>C" "r.(?)" 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"-" "" "0001048850" "00017968" "50" "0" "0" "0" "0" "n.-32_-14dup" "r.(?)" "-" "" "0001048851" "00017968" "70" "0" "0" "0" "0" "n.-29G>A" "r.(?)" "-" "" "0001048852" "00017968" "70" "0" "0" "0" "0" "n.-29G>A" "r.(?)" "-" "" "0001048853" "00017968" "70" "0" "0" "0" "0" "n.-29G>A" "r.(?)" "-" "" "0001048854" "00017968" "70" "0" "0" "0" "0" "n.-29G>A" "r.(?)" "-" "" "0001048855" "00017968" "50" "0" "0" "0" "0" "n.-25A>G" "r.(?)" "-" "" "0001048856" "00017968" "50" "0" "0" "0" "0" "n.-24G>A" "r.(?)" "-" "" "0001048857" "00017968" "50" "0" "0" "0" "0" "n.-24G>A" "r.(?)" "-" "" "0001048858" "00017968" "50" "0" "0" "0" "0" "n.-24G>A" "r.(?)" "-" "" "0001048859" "00017968" "50" "0" "0" "0" "0" "n.-23A>G" "r.(?)" "-" "" "0001048860" "00017968" "70" "0" "0" "0" "0" "n.-21C>G" "r.(?)" "-" "" "0001048861" "00017968" "70" "0" "0" "0" "0" "n.-21C>G" "r.(?)" "-" "" "0001048862" "00017968" "50" "0" "0" "0" "0" "n.-19A>G" "r.(?)" "-" "" "0001048863" "00017968" "50" "0" "0" "0" "0" "n.-18G>A" "r.(?)" "-" "" "0001048864" "00017968" "50" "0" "0" "0" "0" "n.-18G>A" "r.(?)" "-" "" "0001048865" "00017968" "70" "0" "0" "0" "0" "n.-17T>G" "r.(?)" "-" "" "0001048866" "00017968" "70" "0" "0" "0" "0" "n.-9C>G" "r.(?)" "-" "" "0001048867" "00017968" "90" "0" "0" "0" "0" "n.-9C>T" "r.(?)" "-" "" "0001048868" "00017968" "70" "0" "0" "0" "0" "n.-9C>G" "r.(?)" "-" "" "0001048869" "00017968" "70" "0" "0" "0" "0" "n.-9C>G" "r.(?)" "-" "" "0001048870" "00017968" "70" "0" "0" "0" "0" "n.-9C>G" "r.(?)" "-" "" "0001048871" "00017968" "90" "0" "0" "0" "0" "n.-9C>T" "r.(?)" "-" "" "0001048872" "00017968" "50" "0" "0" "0" "0" "n.-5T>C" "r.(?)" "-" "" "0001048873" "00017968" "90" "0" "0" "0" "0" "n.-4C>T" "r.(?)" "-" "" "0001048874" "00017968" "90" "0" "0" "0" "0" "n.-4C>T" "r.(?)" "-" "" "0001048875" "00017968" "90" "0" "0" "0" "0" "n.-4C>T" "r.(?)" "-" "" "0001048876" "00017968" "90" "0" "0" "0" "0" "n.-4C>T" "r.(?)" "-" "" "0001048877" "00017968" "90" "0" "0" "0" "0" "n.-4C>T" "r.(?)" "-" "" "0001048878" "00017968" "90" "0" "0" "0" "0" "n.-4C>T" "r.(?)" "-" "" "0001048879" "00017968" "90" "0" "0" "0" "0" "n.-4C>T" "r.(?)" "-" "" "0001048880" "00017968" "90" "0" "0" "0" "0" "n.-4C>T" "r.(?)" "-" "" "0001048881" "00017968" "90" "0" "0" "0" "0" "n.-4C>T" "r.(?)" "-" "" "0001048882" "00017968" "50" "0" "0" "0" "0" "n.-3T>G" "r.(?)" "-" "" "0001048883" "00017968" "50" "0" "0" "0" "0" "n.-1A>C" "r.(?)" "-" "" "0001048884" "00017968" "70" "13" "0" "13" "0" "n.13C>G" "r.(?)" "-" "" "0001048885" "00017968" "70" "13" "0" "13" "0" "n.13C>G" "r.(?)" "-" "" "0001048886" "00017968" "50" "15" "0" "16" "0" "n.15_16insT" "r.(?)" "-" "" "0001048887" "00017968" "50" "25" "0" "32" "0" "n.25_32dup" "r.(?)" "-" "" "0001048888" "00017968" "50" "48" "0" "48" "0" "n.48T>A" "r.(?)" "-" "" "0001048889" "00017968" "50" "52" "0" "52" "0" "n.52T>G" "r.(?)" "-" "" "0001048890" "00017968" "50" "52" "0" "52" "0" "n.52T>A" "r.(?)" "-" "" "0001048891" "00017968" "70" "56" "0" "56" "0" "n.56T>C" "r.(?)" "-" "" "0001048892" "00017968" "70" "56" "0" "56" "0" "n.56T>G" "r.(?)" "-" "" "0001048893" "00017968" "70" "56" "0" "56" "0" "n.56T>G" "r.(?)" "-" "" "0001048894" "00017968" "70" "56" "0" "56" "0" "n.56T>C" "r.(?)" "-" "" "0001048895" "00017968" "50" "58" "0" "69" "0" "n.58_69del" "r.(?)" "-" "" "0001048896" "00017968" "50" "58" "0" "69" "0" "n.58_69del" "r.(?)" "-" "" "0001048897" "00017968" "50" "58" "0" "69" "0" "n.58_69del" "r.(?)" "-" "" "0001048898" "00017968" "50" "58" "0" "69" "0" "n.58_69del" "r.(?)" "-" "" "0001048899" "00017968" "50" "60" "0" "71" "0" "n.60_71del" "r.(?)" "-" "" "0001048900" "00017968" "50" "60" "0" "71" "0" "n.60_71del" "r.(?)" "-" "" "0001048901" "00017968" "50" "80" "0" "80" "0" "n.80C>T" "r.(?)" "-" "" "0001048902" "00017968" "50" "94" "0" "105" "0" "n.94_105dup" "r.(?)" "-" "" "0001048903" "00017968" "50" "94" "0" "94" "0" "n.94T>C" "r.(?)" "-" "" "0001048904" "00017968" "50" "101" "0" "101" "0" "n.101A>T" "r.(?)" "-" "" "0001048905" "00017968" "50" "104" "0" "104" "0" "n.104G>A" "r.(?)" "-" "" "0001048906" "00017968" "50" "67" "0" "67" "0" "n.67G>A" "r.(?)" "-" "" "0001048907" "00017968" "50" "126" "0" "126" "0" "n.126A>C" "r.(?)" "-" "" "0001048908" "00017968" "50" "32" "0" "32" "0" "n.32A>G" "r.(?)" "-" "" "0001048909" "00017968" "50" "61" "0" "61" "0" "n.61A>G" "r.(?)" "-" "" "0001048910" "00017968" "50" "95" "0" "95" "0" "n.95C>G" "r.(?)" "-" "" "0001048911" "00017968" "50" "16" "0" "24" "0" "n.16_24dup" "r.(?)" "-" "" "0001048912" "00017968" "70" "52" "0" "52" "0" "n.52T>C" "r.(?)" "-" "" "0001048913" "00017968" "50" "97" "0" "97" "0" "n.97A>T" "r.(?)" "-" "" "0001048914" "00017968" "50" "0" "0" "0" "0" "n.-26A>G" "r.(?)" "-" "" "0001048915" "00017968" "50" "53" "0" "53" "0" "n.53T>A" "r.(?)" "-" "" "0001048916" "00017968" "70" "0" "0" "0" "0" "n.-21C>G" "r.(?)" "-" "" "0001048917" "00017968" "50" "0" "0" "0" "0" "n.-17T>C" "r.(?)" "-" "" "0001048918" "00017968" "90" "0" "0" "0" "0" "n.-4C>T" "r.(?)" "-" "" "0001048919" "00017968" "50" "97" "0" "97" "0" "n.97A>G" "r.(?)" "-" "" "0001048920" "00017968" "50" "80" "0" "80" "0" "n.80C>T" "r.(?)" "-" "" "0001048921" "00017968" "50" "110" "0" "114" "0" "n.110_114del" "r.(?)" "-" "" "0001048922" "00017968" "70" "52" "0" "52" "0" "n.52T>C" "r.(?)" "-" "" "0001048923" "00017968" "70" "0" "0" "0" "0" "n.-17T>G" "r.(?)" "-" "" "0001048924" "00017968" "90" "0" "0" "0" "0" "n.-9C>T" "r.(?)" "-" "" "0001048925" "00017968" "50" "127" "0" "127" "0" "n.127G>A" "r.(?)" "-" "" "0001048926" "00017968" "50" "133" "0" "133" "0" "n.133G>C" "r.(?)" "-" "" "0001048927" "00017968" "50" "51" "0" "51" "0" "n.51A>G" "r.(?)" "-" "" "0001048928" "00017968" "50" "0" "0" "0" "0" "n.-7G>A" "r.(?)" "-" "" "0001048929" "00017968" "70" "13" "0" "13" "0" "n.13C>G" "r.(?)" "-" "" "0001048930" "00017968" "70" "56" "0" "56" "0" "n.56T>C" "r.(?)" "-" "" "0001048931" "00017968" "50" "65" "0" "65" "0" "n.65G>A" "r.(?)" "-" "" "0001048932" "00017968" "50" "84" "0" "84" "0" "n.84C>T" "r.(?)" "-" "" "0001048933" "00017968" "50" "135" "0" "135" "0" "n.135G>T" "r.(?)" "-" "" "0001048934" "00017968" "70" "0" "0" "0" "0" "n.-29G>A" "r.(?)" "-" "" "0001048935" "00017968" "50" "1" "0" "1" "0" "n.1T>C" "r.(?)" "-" "" "0001048936" "00017968" "70" "52" "0" "52" "0" "n.52T>C" "r.(?)" "-" "" "0001048937" "00017968" "50" "53" "0" "54" "0" "n.53_54delinsAG" "r.(?)" "-" "" "0001048938" "00017968" "50" "80" "0" "80" "0" "n.80C>G" "r.(?)" "-" "" "0001048939" "00017968" "50" "81" "0" "81" "0" "n.81T>G" "r.(?)" "-" "" "0001048940" "00017968" "50" "83" "0" "83" "0" "n.83G>A" "r.(?)" "-" "" "0001048941" "00017968" "50" "15" "0" "15" "0" "n.15G>C" "r.(?)" "-" "" "0001048942" "00017968" "50" "96" "0" "108" "0" "n.96_108del" "r.(?)" "-" "" "0001048943" "00017968" "50" "133" "0" "133" "0" "n.133G>T" "r.(?)" "-" "" "0001048944" "00017968" "50" "13" "0" "13" "0" "n.13C>T" "r.(?)" "-" "" "0001048945" "00017968" "50" "133" "0" "133" "0" "n.133G>C" "r.(?)" "-" "" "0001048946" "00017968" "50" "18" "0" "18" "0" "n.18A>G" "r.(?)" "-" "" "0001048947" "00017968" "70" "52" "0" "52" "0" "n.52T>C" "r.(?)" "-" "" "0001048948" "00017968" "50" "132" "0" "132" "0" "n.132G>A" "r.(?)" "-" "" "0001048949" "00017968" "50" "109" "0" "109" "0" "n.109G>C" "r.(?)" "-" "" "0001048950" "00017968" "90" "0" "0" "0" "0" "n.-1_*1176del" "r.0?" "-" "" "0001048951" "00017968" "50" "57" "0" "68" "0" "n.57_68del" "r.(?)" "-" "" "0001048952" "00017968" "50" "106" "0" "106" "0" "n.106C>T" "r.(?)" "-" "" "0001048953" "00017968" "50" "109" "0" "109" "0" "n.109G>A" "r.(?)" "-" "" "0001048954" "00017968" "50" "2" "0" "2" "0" "n.2C>G" "r.(?)" "-" "" "0001048955" "00017968" "50" "135" "0" "135" "0" "n.135G>A" "r.(?)" "-" "" "0001048956" "00017968" "50" "32" "0" "32" "0" "n.32A>G" "r.(?)" "-" "" "0001048957" "00017968" "90" "0" "0" "0" "0" "n.-582732_*59824del" "r.0" "-" "" "0001048958" "00017968" "50" "128" "0" "128" "0" "n.128G>C" "r.(?)" "-" "" "0001048959" "00017968" "50" "107" "0" "107" "0" "n.107C>G" "r.(?)" "-" "" "0001048960" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048961" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048962" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 281 "{{screeningid}}" "{{variantid}}" "0000456527" "0001010212" "0000456528" "0001010213" "0000456529" "0001010214" "0000456530" "0001010215" "0000456531" "0001010216" "0000456532" "0001010217" "0000456533" "0001010218" "0000456534" "0001010219" "0000456535" "0001010220" "0000456536" "0001010221" "0000456537" "0001010222" "0000456538" "0001010223" "0000456539" "0001010224" "0000456540" "0001010225" "0000456541" "0001010226" "0000468726" "0001048656" "0000468727" "0001048657" "0000468728" "0001048658" "0000468729" "0001048659" "0000468730" "0001048660" "0000468731" "0001048661" "0000468732" "0001048662" "0000468733" "0001048663" "0000468734" "0001048664" "0000468735" "0001048665" "0000468745" "0001048675" "0000468746" "0001048676" "0000468747" "0001048677" "0000468748" "0001048678" "0000468749" "0001048679" "0000468750" "0001048680" "0000468751" "0001048681" "0000468752" "0001048682" "0000468753" 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"0000468891" "0001048939" "0000468892" "0001048877" "0000468892" "0001048940" "0000468893" "0001048878" "0000468894" "0001048879" "0000468895" "0001048880" "0000468895" "0001048941" "0000468896" "0001048881" "0000468896" "0001048942" "0000468897" "0001048882" "0000468897" "0001048943" "0000468898" "0001048883" "0000468898" "0001048944" "0000468899" "0001048884" "0000468900" "0001048885" "0000468900" "0001048945" "0000468901" "0001048886" "0000468901" "0001048946" "0000468902" "0001048887" "0000468902" "0001048947" "0000468903" "0001048888" "0000468904" "0001048889" "0000468905" "0001048890" "0000468905" "0001048948" "0000468906" "0001048891" "0000468907" "0001048892" "0000468908" "0001048893" "0000468908" "0001048949" "0000468909" "0001048894" "0000468909" "0001048950" "0000468910" "0001048895" "0000468910" "0001048951" "0000468911" "0001048896" "0000468912" "0001048897" "0000468912" "0001048952" "0000468913" "0001048898" "0000468913" "0001048953" "0000468914" "0001048899" "0000468914" "0001048954" "0000468915" "0001048900" "0000468915" "0001048955" "0000468916" "0001048901" "0000468917" "0001048902" "0000468918" "0001048903" "0000468918" "0001048956" "0000468919" "0001048904" "0000468919" "0001048957" "0000468920" "0001048905" "0000468921" "0001048906" "0000468921" "0001048959" "0000468922" "0001048907" "0000468922" "0001048958" "0000468923" "0001048960" "0000468924" "0001048961" "0000468925" "0001048962"