### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NF2) # 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}}" "NF2" "neurofibromin 2 (merlin)" "22" "q12.2" "unknown" "NG_009057.1" "UD_132118402626" "" "https://www.LOVD.nl/NF2" "" "1" "7773" "4771" "607379" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/NF2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-01-20 11:03:21" "00000" "2023-07-07 10:10:56" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00014503" "NF2" "transcript variant 1" "003" "NM_000268.3" "" "NP_000259.1" "" "" "" "-443" "5586" "1788" "29999545" "30094589" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00371" "MCAHS1;GPIBD3" "multiple congenital anomalies, hypotonia, seizures syndrome, type 1 (MCAHS-1, glycosylphosphatidylinositol deficiency, type 3 (GPIBD-3))" "AR" "614080" "" "autosomal recessive" "" "00081" "2014-04-29 22:18:09" "00006" "2021-12-10 21:51:32" "00515" "NF" "neurofibromatosis (NF)" "" "" "" "" "" "00006" "2014-08-22 11:35:21" "00006" "2018-08-03 21:34:35" "01159" "NF2" "neurofibromatosis, type 2 (NF-2)" "" "101000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma (RB-1)" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02638" "meningioma" "meningioma, familial, susceptibility to" "AD" "607174" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-12-26 15:18:15" "05389" "SWNTS" "Schwannomatosis (SWNTS)" "" "" "" "" "" "00006" "2018-02-01 14:09:26" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "NF2" "00515" "NF2" "01159" "NF2" "02638" "NF2" "05389" ## Individuals ## Do not remove or alter this header ## ## Count = 131 "{{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}}" "00019965" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "M" "-" "Italy" "" "" "" "" "white" "" "00019966" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "F" "-" "Italy" "" "" "" "" "white" "" "00019967" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "M" "-" "Italy" "" "" "" "" "white" "" "00019968" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "M" "-" "" "" "" "" "" "white" "" "00019969" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "M" "-" "Italy" "" "" "" "" "white" "" "00019970" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "M" "-" "" "" "" "" "" "" "" "00019971" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "F" "-" "" "" "" "" "" "" "" "00019972" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "F" "-" "" "" "" "" "" "" "" "00019973" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "F" "-" "Italy" "" "" "" "" "" "" "00019974" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "" "" "" "" "" "" "" "" "00019975" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "" "" "" "" "" "" "" "" "00019976" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "" "" "" "" "" "" "" "" "00019977" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "M" "" "" "" "" "" "" "" "" "00019978" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "F" "-" "Italy" "" "" "" "" "" "" "00019979" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "M" "" "Italy" "" "" "" "" "" "" "00019980" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "" "" "" "" "" "" "" "" "00019981" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "F" "" "" "" "" "" "" "" "" "00019982" "" "" "" "1" "" "00732" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "F" "" "" "" "" "" "" "" "" "00019989" "" "" "" "1" "" "00697" "" "" "M" "no" "(France)" "" "0" "" "" "" "" "00095753" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095754" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095755" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095758" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095760" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095761" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095762" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095763" "" "" "" "1" "" "00697" "{PMID:Ahronowitz 2007:16983642}" "" "" "" "" "" "0" "" "" "" "" "00095764" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095766" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095767" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095768" "" "" "" "1" "" "00697" "{PMID:Ahronowitz 2007:16983642}" "CpG dinucleotide ; Mosaic" "" "" "" "" "0" "" "" "" "" "00095769" "" "" "" "1" "" "00697" "{PMID:Evans 2005:15635074}" "" "" "" "" "" "0" "" "" "" "" "00095770" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095771" "" "" "" "1" "" "00697" "{PMID:Zemmoura 2014:24357459}" "Skip of exon 9" "" "" "" "" "0" "" "" "" "" "00095774" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095775" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095776" "" "" "" "1" "" "00697" "{PMID:Bourn 1995:7759081}" "" "" "" "" "" "0" "" "" "" "" "00095777" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095778" "" "" "" "1" "" "00697" "{PMID:Ruttledge 1996:8755919}" "" "" "" "" "" "0" "" "" "" "" "00095779" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095780" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095781" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095782" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095783" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095784" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095785" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095786" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095787" "" "" "" "1" "" "00697" "" "Mosaic" "" "" "" "" "0" "" "" "" "" "00095788" "" "" "" "1" "" "00697" "" "Mosaic" "" "" "" "" "0" "" "" "" "" "00095789" "" "" "" "1" "" "00697" "{PMID:Ahronowitz 2007:16983642}" "TC> tandem repeat" "" "" "" "" "0" "" "" "" "" "00095790" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095791" "" "" "" "1" "" "00697" "{PMID:Wallace 2004:15684865}" "Mosaic" "" "" "" "" "0" "" "" "" "" "00095792" "" "" "" "1" "" "00697" "{PMID:Irving 1997:9391673}" "Mosaic" "" "" "" "" "0" "" "" "" "" "00095793" "" "" "" "1" "" "00697" "" "Mosaic" "" "" "" "" "0" "" "" "" "" "00095794" "" "" "" "1" "" "00697" "" "Mosaic" "" "" "" "" "0" "" "" "" "" "00095795" "" "" "" "1" "" "00697" "{PMID:Ahronowitz 2007:16983642}" "CpG dinucleotide ; Mosaic" "" "" "" "" "0" "" "" "" "" "00095796" "" "" "" "1" "" "00697" "{PMID:Ahronowitz 2007:16983642}" "CpG dinucleotide" "" "" "" "" "0" "" "" "" "" "00095797" "" "" "" "1" "" "00697" "{PMID:Ahronowitz 2007:16983642}" "CpG dinucleotide ; Mosaic" "" "" "" "" "0" "" "" "" "" "00095798" "" "" "" "1" "" "00697" "" "First base of exon 12" "" "" "" "" "0" "" "" "" "" "00095799" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095800" "" "" "" "1" "" "00697" "" "Last base of exon 12" "" "" "" "" "0" "" "" "" "" "00095801" "" "" "" "1" "" "00697" "{PMID:Ahronowitz 2007:16983642}" "CpG dinucleotide" "" "" "" "" "0" "" "" "" "" "00095802" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095803" "" "" "" "1" "" "00697" "{PMID:Ahronowitz 2007:16983642}" "" "" "" "" "" "0" "" "" "" "" "00095804" "" "" "" "1" "" "00697" "{PMID:Ahronowitz 2007:16983642}" "" "" "" "" "" "0" "" "" "" "" "00095805" "" "" "" "1" "" "00697" "{PMID:Ahronowitz 2007:16983642}" "" "" "" "" "" "0" "" "" "" "" "00095806" "" "" "" "1" "" "00697" "" "GAAA > tandem repeat" "" "" "" "" "0" "" "" "" "" "00095807" "" "" "" "1" "" "00697" "{PMID:Parry 1996:8751853}, {PMID:Evans 1998:9643284}, {PMID:Wallace 2004:15684865}" "" "" "" "" "" "0" "" "" "" "" "00095808" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095809" "" "" "" "1" "" "00697" "" "Mosaic" "" "" "" "" "0" "" "" "" "" "00095810" "" "" "" "1" "" "00697" "" "Mosaic" "" "" "" "" "0" "" "" "" "" "00095811" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095812" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095813" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095814" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095815" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095816" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095817" "" "" "" "1" "" "00697" "{PMID:Ruttledge 1996:8755919}" "" "" "" "" "" "0" "" "" "" "" "00095818" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095819" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095820" "" "" "" "1" "" "00697" "" "Mosaic" "" "" "" "" "0" "" "" "" "" "00095821" "" "" "" "1" "" "00697" "" "Mosaic" "" "" "" "" "0" "" "" "" "" "00095822" "" "" "" "1" "" "00697" "" "" "" "" "" "" "0" "" "" "" "" "00095823" "" "" "" "1" "" "00697" "{PMID:Wallace 2004:15684865}" "" "" "" "" "" "0" "" "" "" "" "00095824" "" "" "" "1" "" "00697" "{PMID:Ahronowitz 2007:16983642}" "CpG dinucleotide" "" "" "" "" "0" "" "" "" "" "00095826" "" "" "" "1" "" "00697" "{PMID:Ahronowitz 2007:16983642}" "CpG dinucleotide ; Mosaic" "" "" "" "" "0" "" "" "" "" "00095827" "" "" "" "1" "" "00697" "{PMID:Ahronowitz 2007:16983642}" "CpG dinucleotide ; Mosaic" "" "" "" "" "0" "" "" "" "" "00095828" "" "" "" "1" "" "00697" "{PMID:Ahronowitz 2007:16983642}" "CpG dinucleotide ; Mosaic" "" "" "" "" "0" "" "" "" "" "00095829" "" "" "" "1" "" "00697" "{PMID:Ahronowitz 2007:16983642}" "CpG dinucleotide ; Mosaic" "" "" "" "" "0" "" "" "" "" "00095832" "" "" "" "1" "" "00697" "{PMID:Rouleau 1993:8379998}, {PMID:Twist 1994:8162016}" "" "" "" "" "" "0" "" "" "" "" "00095833" "" "" "" "1" "" "00697" "{PMID:Rouleau 1993:8379998}, {PMID:Twist 1994:8162016}" "" "" "" "" "" "0" "" "" "" "" "00132599" "" "" "" "5" "" "00006" "{PMID:DiFrancesco 2014:24667735}, {DOI:DiFrancesco 2014:10.1684/epd.2014.0647}" "3-generation family, 5 affecteds (3F, 2M)" "M" "" "Italy" "" "0" "" "" "South American" "24667735-FamPatIII3" "00132600" "" "" "" "1" "" "00732" "{PMID:Hung G et al 2000:10748301}; {PMID:Wallace AJ et al 2004:15684865}" "" "" "" "" "" "0" "" "" "" "" "00132601" "" "" "" "1" "" "00732" "{PMID:Merel P et al 1995:7535084}" "" "" "" "" "" "0" "" "" "" "" "00132602" "" "" "" "1" "" "00732" "{PMID:Evans DG et al 1998:9643284}" "" "" "" "" "" "0" "" "" "" "" "00132603" "" "" "" "1" "" "00732" "{PMID:Ruttledge MH et al 1996:8755919}" "" "" "" "" "" "0" "" "" "" "" "00132604" "" "" "" "1" "" "00732" "Rouleau GA eta l., 1993; MacCollin M 1994; Kluwe L 1998; Evans DG 1998; Evans 2005; Mautner VF 2002" "" "" "" "" "" "0" "" "" "" "" "00132605" "" "" "" "1" "" "00732" "Wallace AJ 2004; Kluwe L 2002" "" "" "" "" "" "0" "" "" "" "" "00132606" "" "" "" "1" "" "00732" "Rouleau GA 1993; Jacoby LB 1994; Bourn D 1994; Merel P 1995; Parry DM 1996; Jacoby LB 1999; Chen HJ 1998; Harada H 1999; Sestini R 2000; Kluwe L 2003; Evans DG 2005" "" "" "" "" "" "0" "" "" "" "" "00132607" "" "" "" "1" "" "00732" "Bourn D 1995; MacCollin M 1996; Evans DG 1998; Kluwe L 1998; Kluwe L 2000; Lamszus K 2000; Hagel C 2002; Kluwe L 2003;Wallace AJ 2004" "" "" "" "" "" "0" "" "" "" "" "00132608" "" "" "" "1" "" "00732" "Evans DG 1998; Kluwe L 2000; Wallace AJ 2004; Evans DG 2005" "" "" "" "" "" "0" "" "" "" "" "00132609" "" "" "" "1" "" "00732" "Jacoby LB 1994; MacCollin M 1994; Bourn D 1995; Parry DM 1996; Kluwe L 2000; Kluwe L 2003; Aghi M 2006" "" "" "" "" "" "0" "" "" "" "" "00132610" "" "" "" "1" "" "00732" "Jacoby LB 1996; Wellenreuther R 1995" "" "" "" "" "" "0" "" "" "" "" "00132611" "" "" "" "1" "" "00732" "Evans DG 1998; Kluwe L 2000; Wallace AJ 2004; Evans DG 2005" "" "" "" "" "" "0" "" "" "" "" "00132612" "" "" "" "1" "" "00732" "Rouleau GA 1993; Jacoby LB 1994; Bourn D 1994; Merel P 1995; Parry DM 1996; Jacoby LB 1999; Chen HJ 1998; Harada H 1999; Sestini R 2000; Kluwe L 2003; Evans DG 2005" "" "" "" "" "" "0" "" "" "" "" "00132801" "" "" "" "6" "" "00006" "{PMID:de Klein 1998:9466995}" "4-generation family, 6 affecteds (3F, 3M)" "F;M" "no" "Netherlands" "" "0" "" "" "" "09466995-Fam" "00293088" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296393" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00307145" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "no" "Brazil" "" "0" "" "" "" "Patient 21" "00307259" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "F" "" "Brazil" "" "" "" "" "" "Patient 66" "00309686" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00326511" "" "" "" "1" "" "01164" "" "" "M" "?" "" "" "0" "" "" "" "174639" "00374357" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1143" "00382903" "" "" "" "1" "" "01164" "" "For publication Steinke-Lange et al., 2021" "M" "no" "Germany" "" "0" "" "" "" "163925" "00400187" "" "" "" "1" "" "04185" "Sadler et al 2022 (submitted)" "" "F" "" "United States" "" "" "" "" "" "" "00400912" "" "" "" "2" "" "04185" "Sadler et al 2022 (submitted)" "Identified by UAB Medical Genomics Laboratory" "M" "" "United States" "" "" "" "" "" "" "00400913" "" "" "" "2" "" "04185" "Sadler et al 2022 (submitted)" "Identified by UAB Medical Genomics Laboratory" "M" "" "United States" "" "" "" "" "" "" "00400941" "" "" "" "1" "" "04185" "Sadler et al 2022 (submitted)" "Identified by UAB Medical Genomics Laboratory" "M" "" "United States" "" "0" "" "" "" "" "00401525" "" "" "" "2" "" "04185" "Sadler et al 2022 (submitted)" "Identified by UAB Medical Genomics Laboratory; PMID: 28409725" "F" "" "United States" "" "" "" "" "" "" "00401526" "" "" "" "1" "" "04185" "Sadler et al 2022 (Submitted)" "Identified by UAB Medical Genomics Laboratory" "F" "" "United States" "" "0" "" "" "" "" "00401552" "" "" "" "1" "" "04185" "Sadler et al 2022 (submitted)" "Identified by UAB Medical Genomics Laboratory" "M" "" "United States" "" "" "" "" "" "" "00401553" "" "" "" "2" "" "04185" "Sadler et al 2022 (submitted)" "Identified by UAB Medical Genomics Laboratory" "F" "" "United States" "" "" "" "" "" "" "00401554" "" "" "" "1" "" "04185" "Sadler et al 2022 (submitted)" "Identified by UAB Medical Genomics Laboratory; PMID: [23348505]:[32017710]" "?" "" "United States" "" "" "" "" "" "" "00401555" "" "" "" "1" "" "04185" "Sadler et al 2022 (submitted)" "Identified by UAB Medical Genomics Laboratory" "F" "" "United States" "" "" "" "" "" "" "00401682" "" "" "" "4" "" "04185" "Sadler et al. 2022 (submitted)" "Iedntified by the NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine" "F" "" "" "" "" "" "" "" "" "00401683" "" "" "" "1" "" "04185" "Sadler et al. 2022 (submitted)" "Identified by the NW Genomics Laboratory Hub, Manchester Centre for Genomic Medicine" "M" "" "United Kingdom (Great Britain)" "" "" "" "" "" "" "00401684" "" "" "" "1" "" "04185" "Sadler et al. 2022 (submitted)" "Identified by the NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine" "M" "" "United Kingdom (Great Britain)" "" "" "" "" "" "" "00401685" "" "" "" "1" "" "04185" "Sadler et al. 2022 (submitted)" "Identified by the NW Genomics Laboratory Hub, Manchester Centre for Genomic Medicine" "F" "" "" "" "" "" "" "" "" "00416463" "" "" "" "1" "" "02255" "" "" "F" "" "Italy" ">18y" "0" "" "" "African" "NF2_246" "00416497" "" "" "" "1" "" "02255" "" "" "M" "" "Italy" ">23y" "0" "" "" "" "NF2_160" "00416498" "" "" "" "1" "" "02255" "" "" "M" "" "Italy" ">42y" "0" "" "" "" "NF2_366" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 132 "{{individualid}}" "{{diseaseid}}" "00019965" "00371" "00019965" "01159" "00019966" "01159" "00019967" "01159" "00019968" "01159" "00019969" "01159" "00019970" "01159" "00019971" "01159" "00019972" "01159" "00019973" "01159" "00019974" "01159" "00019975" "01159" "00019976" "01159" "00019977" "01159" "00019978" "01159" "00019979" "01159" "00019980" "01159" "00019981" "01159" "00019982" "01159" "00019989" "01159" "00095753" "01159" "00095754" "01159" "00095755" "01159" "00095758" "01159" "00095760" "01159" "00095761" "01159" "00095762" "01159" "00095763" "01159" "00095764" "01159" "00095766" "01159" "00095767" "01159" "00095768" "01159" "00095769" "01159" "00095770" "01159" "00095771" "01159" "00095774" "01159" "00095775" "01159" "00095776" "01159" "00095777" "01159" "00095778" "01159" "00095779" "01159" "00095780" "01159" "00095781" "01159" "00095782" "01159" "00095783" "01159" "00095784" "01159" "00095785" "01159" "00095786" "01159" "00095787" "01159" "00095788" "01159" "00095789" "01159" "00095790" "01159" "00095791" "01159" "00095792" "01159" "00095793" "01159" "00095794" "01159" "00095795" "01159" "00095796" "01159" "00095797" "01159" "00095798" "01159" "00095799" "01159" "00095800" "01159" "00095801" "01159" "00095802" "01159" "00095803" "01159" "00095804" "01159" "00095805" "01159" "00095806" "01159" "00095807" "01159" "00095808" "01159" "00095809" "01159" "00095810" "01159" "00095811" "01159" "00095812" "01159" "00095813" "01159" "00095814" "01159" "00095815" "01159" "00095816" "01159" "00095817" "01159" "00095818" "01159" "00095819" "01159" "00095820" "01159" "00095821" "01159" "00095822" "01159" "00095823" "01159" "00095824" "01159" "00095826" "01159" "00095827" "01159" "00095828" "01159" "00095829" "01159" "00095832" "01159" "00095833" "01159" "00132599" "01159" "00132600" "01159" "00132601" "01159" "00132602" "01159" "00132603" "01159" "00132604" "01159" "00132605" "01159" "00132606" "01159" "00132607" "01159" "00132608" "01159" "00132609" "01159" "00132610" "01159" "00132611" "01159" "00132612" "01159" "00132801" "01159" "00293088" "00198" "00296393" "00198" "00307145" "01544" "00307259" "01544" "00309686" "01159" "00326511" "01159" "00374357" "00198" "00382903" "01159" "00400187" "01159" "00400912" "01159" "00400913" "01159" "00400941" "01159" "00401525" "01159" "00401526" "01159" "00401552" "01159" "00401553" "01159" "00401554" "01159" "00401555" "01159" "00401682" "01159" "00401683" "01159" "00401684" "01159" "00401685" "01159" "00416463" "01159" "00416497" "01159" "00416498" "01159" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00371, 00515, 01159, 01544, 02638, 05389 ## Count = 17 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000017748" "01159" "00019989" "00697" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105379" "01159" "00132599" "00006" "Familial, autosomal dominant" "23y" "see paper; ..." "" "" "status epilepticus" "" "" "" "" "" "" "" "" "0000105564" "01159" "00132801" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000223807" "00198" "00296393" "01164" "Unknown" "" "Cafe-au-lait spot (HP:0000957); Neurofibromas (HP:0001067)" "" "" "" "" "" "" "" "" "" "" "" "0000232950" "01544" "00307145" "03753" "Unknown" "" "Unilateral" "" "00y32m" "HP:0000555" "" "" "" "" "" "" "" "" "0000233063" "01544" "00307259" "03753" "Unknown" "" "Unilateral" "" "00y07m" "HP:0000486" "" "" "" "" "" "" "" "" "0000244978" "01159" "00326511" "01164" "Unknown" "46y" "(+) Neurofibromas,(+) Multiple cafe-au-lait spots" "" "" "" "" "" "" "" "" "" "" "" "0000269567" "00198" "00374357" "00006" "Familial, autosomal dominant" "" "Global developmental delay, failure to gain weight, long face, flared pinna, shallow orbits, nystagmus, cataract and cardiac abnormalities" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "" "0000276759" "01159" "00382903" "01164" "Unknown" "45y" "two schwannomas left lower leg and left foot, scar neuroma right foot; clinical suspicion of schwannomatosis" "" "" "" "" "" "" "" "" "" "" "" "0000294317" "01159" "00401525" "04185" "Familial" "" "Bilateral vestibular schwannoma; schwannoma" "54y" "" "" "" "" "" "" "" "" "" "" "0000294318" "01159" "00401526" "04185" "Unknown" "" "Bilateral vestibular schwannoma" "57y" "" "" "" "" "" "" "" "" "" "" "0000294344" "01159" "00401552" "04185" "Unknown" "" "Bilateral vestibular schwannoma" "32y" "" "" "" "" "" "" "" "" "" "" "0000294345" "01159" "00401554" "04185" "Unknown" "" "Schwannoma" "" "" "" "" "" "" "" "" "" "" "" "0000294346" "01159" "00401555" "04185" "Unknown" "" "Schwannoma" "39y" "" "" "" "" "" "" "" "" "" "" "0000308188" "01159" "00416463" "02255" "Unknown" "18y08m" "HP:0000957\r\nHP:0000365\r\nHP:0001251(mild)" "" "" "" "" "" "" "" "" "" "" "" "0000308217" "01159" "00416497" "02255" "Isolated (sporadic)" "23y11m" "HP:0000957 (1cafè-au-lait spot)\r\nHP:0001067 (n°2 neurofibromas)\r\nHP:0007663 (Reduced visual acuity, dx)\r\nHP:0030430 (n°1 neurinoma) \r\nHP:0000365 (bilateral)" "22y" "23y" "" "" "" "" "" "" "" "" "" "0000308218" "01159" "00416498" "02255" "Isolated (sporadic)" "42y10m" "HP:0000957 (n°2 cafè-au-lait spots)\r\nHP:0001067 (small neurofibromas in the chest and right and left ankle)\r\nHP:0000365 (Hearing loss dx)" "" "42y" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 131 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019959" "00019965" "1" "00732" "00732" "2014-09-23 15:18:14" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000019960" "00019966" "1" "00732" "00732" "2014-09-23 15:25:25" "00006" "2017-10-27 23:24:01" "SEQ-NG-I" "DNA" "blood" "" "0000019961" "00019967" "1" "00732" "00732" "2014-09-23 15:30:18" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000019962" "00019968" "1" "00732" "00732" "2014-09-23 15:44:14" "00006" "2017-10-27 23:24:01" "SEQ-NG-I" "DNA" "blood" "" "0000019963" "00019969" "1" "00732" "00732" "2014-09-23 15:50:41" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000019964" "00019970" "1" "00732" "00732" "2014-09-23 15:57:06" "00006" "2017-10-27 23:24:01" "SEQ-NG-I" "DNA" "blood" "" "0000019965" "00019971" "1" "00732" "00732" "2014-09-23 16:06:24" "" "" "SEQ-NG-I" "DNA" "tumor" "" "0000019966" "00019972" "1" "00732" "00732" "2014-09-23 16:16:03" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000019967" "00019973" "1" "00732" "00732" "2014-09-23 16:20:54" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000019968" "00019974" "1" "00732" "00732" "2014-09-23 16:25:13" "00006" "2017-10-27 23:24:01" "SEQ-NG-I" "DNA" "blood" "" "0000019969" "00019975" "1" "00732" "00732" "2014-09-23 16:27:56" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000019970" "00019976" "1" "00732" "00732" "2014-09-23 16:30:45" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000019971" "00019977" "1" "00732" "00732" "2014-09-23 16:33:19" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000019972" "00019978" "1" "00732" "00732" "2014-09-23 16:37:22" "00006" "2017-10-27 23:24:01" "SEQ" "DNA" "blood" "" "0000019973" "00019979" "1" "00732" "00732" "2014-09-23 16:42:19" "" "" "SEQ" "DNA" "blood" "" "0000019974" "00019980" "1" "00732" "00732" "2014-09-23 16:45:35" "" "" "SEQ" "DNA" "blood" "" "0000019975" "00019981" "1" "00732" "00732" "2014-09-23 16:50:26" "" "" "SEQ" "DNA" "blood" "" "0000019976" "00019982" "1" "00732" "00732" "2014-09-23 16:53:37" "" "" "SEQ" "DNA" "blood" "" "0000019983" "00019989" "1" "00697" "00697" "2014-09-25 11:23:31" "" "" "SEQ" "DNA;RNA" "Blood" "" "0000096153" "00095753" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096154" "00095754" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096155" "00095755" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096158" "00095758" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096160" "00095760" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096161" "00095761" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096162" "00095762" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096163" "00095763" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096164" "00095764" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "saliva" "" "0000096166" "00095766" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096167" "00095767" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096168" "00095768" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood;tumour" "" "0000096169" "00095769" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096170" "00095770" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096171" "00095771" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096174" "00095774" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096175" "00095775" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096176" "00095776" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096177" "00095777" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096178" "00095778" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096179" "00095779" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096180" "00095780" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096181" "00095781" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood;jugal" "" "0000096182" "00095782" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096183" "00095783" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096184" "00095784" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096185" "00095785" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096186" "00095786" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096187" "00095787" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096188" "00095788" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood;tumour" "" "0000096189" "00095789" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096190" "00095790" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096191" "00095791" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood;tumour" "" "0000096192" "00095792" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood;tumour" "" "0000096193" "00095793" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood;tumour" "" "0000096194" "00095794" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood;tumour" "" "0000096195" "00095795" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood;tumour" "" "0000096196" "00095796" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096197" "00095797" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096198" "00095798" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096199" "00095799" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096200" "00095800" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096201" "00095801" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096202" "00095802" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096203" "00095803" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096204" "00095804" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096205" "00095805" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096206" "00095806" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096207" "00095807" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096208" "00095808" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096209" "00095809" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood;tumour" "" "0000096210" "00095810" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood;tumour" "" "0000096211" "00095811" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096212" "00095812" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096213" "00095813" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096214" "00095814" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096215" "00095815" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096216" "00095816" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096217" "00095817" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096218" "00095818" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096219" "00095819" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096220" "00095820" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood;tumour" "" "0000096221" "00095821" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood;tumour" "" "0000096222" "00095822" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096223" "00095823" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096224" "00095824" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096226" "00095826" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood;tumour" "" "0000096227" "00095827" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood;buccal swab;saliva" "" "0000096228" "00095828" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096229" "00095829" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096232" "00095832" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000096233" "00095833" "1" "00697" "00008" "2017-01-18 17:17:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000133432" "00132599" "1" "00006" "00006" "2017-10-27 22:39:53" "" "" "SEQ" "DNA" "" "" "0000133433" "00132600" "1" "00732" "00732" "2014-09-23 15:18:14" "" "" "SEQ" "DNA" "" "" "0000133434" "00132601" "1" "00732" "00732" "2014-09-23 15:25:25" "" "" "SEQ" "DNA" "" "" "0000133435" "00132602" "1" "00732" "00732" "2014-09-23 15:30:18" "" "" "SEQ" "DNA" "" "" "0000133436" "00132603" "1" "00732" "00732" "2014-09-23 15:44:14" "" "" "SEQ" "DNA" "" "" "0000133437" "00132604" "1" "00732" "00732" "2014-09-23 15:57:06" "" "" "SEQ" "DNA" "" "" "0000133438" "00132605" "1" "00732" "00732" "2014-09-23 16:16:03" "" "" "SEQ" "DNA" "" "" "0000133439" "00132606" "1" "00732" "00732" "2014-09-23 16:25:13" "" "" "SEQ" "DNA" "" "" "0000133440" "00132607" "1" "00732" "00732" "2014-09-23 16:27:56" "" "" "SEQ" "DNA" "" "" "0000133441" "00132608" "1" "00732" "00732" "2014-09-23 16:30:45" "" "" "SEQ" "DNA" "" "" "0000133442" "00132609" "1" "00732" "00732" "2014-09-23 16:33:19" "" "" "SEQ" "DNA" "" "" "0000133443" "00132610" "1" "00732" "00732" "2014-09-23 16:45:35" "" "" "SEQ" "DNA" "" "" "0000133444" "00132611" "1" "00732" "00732" "2014-09-23 16:50:26" "" "" "SEQ" "DNA" "" "" "0000133445" "00132612" "1" "00732" "00732" "2014-09-23 16:53:37" "" "" "SEQ" "DNA" "" "" "0000133635" "00132801" "1" "00006" "00006" "2017-11-09 17:01:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000294256" "00293088" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297504" "00296393" "1" "01164" "01164" "2020-04-06 09:48:05" "" "" "SEQ-NG-S" "DNA" "" "" "0000308287" "00307145" "1" "03753" "03753" "2020-08-04 20:52:23" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "" "0000308401" "00307259" "1" "03753" "03753" "2020-08-07 03:41:08" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000310831" "00309686" "1" "01741" "01741" "2020-09-01 13:12:01" "" "" "SEQ" "DNA" "" "" "0000327725" "00326511" "1" "01164" "01164" "2021-01-13 11:44:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000375551" "00374357" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000384120" "00382903" "1" "01164" "01164" "2021-09-13 13:01:59" "" "" "SEQ-NG-I" "DNA" "schwannoma biopsy" "2 independent schwannomas have been analyzed" "0000401430" "00400187" "1" "04185" "04185" "2022-01-25 10:08:09" "" "" "SEQ" "DNA" "Blood" "" "0000402156" "00400912" "1" "04185" "04185" "2022-01-27 10:35:39" "" "" "SEQ" "DNA" "Blood" "" "0000402157" "00400913" "1" "04185" "04185" "2022-01-27 10:46:49" "" "" "SEQ" "DNA" "Blood" "" "0000402185" "00400941" "1" "04185" "04185" "2022-01-27 11:44:05" "" "" "SEQ" "DNA" "Blood" "" "0000402768" "00401525" "1" "04185" "04185" "2022-01-31 16:59:45" "" "" "SEQ" "RNA" "Blood" "" "0000402769" "00401526" "1" "04185" "04185" "2022-01-31 17:17:53" "" "" "SEQ-NG" "DNA" "Blood" "" "0000402795" "00401552" "1" "04185" "04185" "2022-01-31 17:35:41" "" "" "SEQ" "DNA" "Blood" "" "0000402796" "00401553" "1" "04185" "04185" "2022-01-31 17:47:33" "" "" "SEQ" "DNA" "Blood" "" "0000402797" "00401554" "1" "04185" "04185" "2022-01-31 18:35:11" "" "" "SEQ" "DNA" "Blood" "" "0000402798" "00401555" "1" "04185" "04185" "2022-01-31 18:43:37" "" "" "SEQ" "DNA" "Blood" "" "0000402923" "00401682" "1" "04185" "04185" "2022-02-02 11:34:37" "" "" "SEQ" "DNA" "Blood" "" "0000402924" "00401683" "1" "04185" "04185" "2022-02-02 11:40:39" "" "" "SEQ" "DNA" "Blood" "" "0000402925" "00401684" "1" "04185" "04185" "2022-02-02 11:46:19" "" "" "SEQ" "DNA" "Blood" "" "0000402926" "00401685" "1" "04185" "04185" "2022-02-02 11:52:48" "" "" "SEQ" "DNA" "Blood" "" "0000417748" "00416463" "1" "02255" "02255" "2022-08-31 12:28:52" "00006" "2022-09-07 11:32:00" "MLPA" "DNA" "blood" "MLPA_P044_Resnova" "0000417779" "00416497" "1" "02255" "02255" "2022-09-01 14:44:30" "00006" "2022-09-07 12:02:48" "MLPA" "DNA" "blood" "" "0000417780" "00416498" "1" "02255" "02255" "2022-09-01 15:35:40" "00006" "2022-09-07 12:03:09" "MLPA" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 133 "{{screeningid}}" "{{geneid}}" "0000019959" "NF2" "0000019960" "NF2" "0000019961" "NF2" "0000019962" "NF2" "0000019963" "NF2" "0000019964" "NF2" "0000019965" "NF2" "0000019966" "NF2" "0000019967" "NF2" "0000019968" "NF2" "0000019969" "NF2" "0000019970" "NF2" "0000019971" "NF2" "0000019972" "NF2" "0000019973" "NF2" "0000019974" "NF2" "0000019975" "NF2" "0000019976" "NF2" "0000019983" "NF2" "0000096153" "NF2" "0000096154" "NF2" "0000096155" "NF2" "0000096158" "NF2" "0000096160" "NF2" "0000096161" "NF2" "0000096162" "NF2" "0000096163" "NF2" "0000096164" "NF2" "0000096166" "NF2" "0000096167" "NF2" "0000096168" "NF2" "0000096169" "NF2" "0000096170" "NF2" "0000096171" "NF2" "0000096174" "NF2" "0000096175" "NF2" "0000096176" "NF2" "0000096177" "NF2" "0000096178" "NF2" "0000096179" "NF2" "0000096180" "NF2" "0000096181" "NF2" "0000096182" "NF2" "0000096183" "NF2" "0000096184" "NF2" "0000096185" "NF2" "0000096186" "NF2" "0000096187" "NF2" "0000096188" "NF2" "0000096189" "NF2" "0000096190" "NF2" "0000096191" "NF2" "0000096192" "NF2" "0000096193" "NF2" "0000096194" "NF2" "0000096195" "NF2" "0000096196" "NF2" "0000096197" "NF2" "0000096198" "NF2" "0000096199" "NF2" "0000096200" "NF2" "0000096201" "NF2" "0000096202" "NF2" "0000096203" "NF2" "0000096204" "NF2" "0000096205" "NF2" "0000096206" "NF2" "0000096207" "NF2" "0000096208" "NF2" "0000096209" "NF2" "0000096210" "NF2" "0000096211" "NF2" "0000096212" "NF2" "0000096213" "NF2" "0000096214" "NF2" "0000096215" "NF2" "0000096216" "NF2" "0000096217" "NF2" "0000096218" "NF2" "0000096219" "NF2" "0000096220" "NF2" "0000096221" "NF2" "0000096222" "NF2" "0000096223" "NF2" "0000096224" "NF2" "0000096226" "NF2" "0000096227" "NF2" "0000096228" "NF2" "0000096229" "NF2" "0000096232" "NF2" "0000096233" "NF2" "0000133432" "NF2" "0000133433" "NF2" "0000133434" "NF2" "0000133435" "NF2" "0000133436" "NF2" "0000133437" "NF2" "0000133438" "NF2" "0000133439" "NF2" "0000133440" "NF2" "0000133441" "NF2" "0000133442" "NF2" "0000133443" "NF2" "0000133444" "NF2" "0000133445" "NF2" "0000133635" "NF2" "0000308287" "RB1" "0000310831" "NF2" "0000327725" "NF2" "0000375551" "KMT2D" "0000384120" "NF2" "0000401430" "NF2" "0000402156" "NF2" "0000402157" "NF2" "0000402185" "NF2" "0000402768" "NF2" "0000402769" "KRAS" "0000402769" "LZTR1" "0000402769" "NF1" "0000402769" "NF2" "0000402769" "PTPN11" "0000402769" "SMARCB1" "0000402795" "NF2" "0000402796" "NF2" "0000402797" "NF2" "0000402798" "NF2" "0000402923" "NF2" "0000402924" "NF2" "0000402925" "NF2" "0000402926" "NF2" "0000417748" "NF2" "0000417779" "NF2" "0000417780" "NF2" ## 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 = 222 "{{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}}" "0000040476" "0" "79" "22" "30050657" "30050657" "subst" "0" "00732" "NF2_000006" "g.30050657C>A" "0.024 reads" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "" "Somatic" "" "" "0" "" "" "g.29654668C>A" "" "likely pathogenic" "" "0000040477" "0" "79" "22" "30054254" "30054254" "subst" "0" "00732" "NF2_000009" "g.30054254G>T" "0.39 reads" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "" "Somatic" "" "" "0" "" "" "g.29658265G>T" "" "likely pathogenic" "" "0000040478" "0" "79" "22" "30000028" "30000029" "del" "0" "00732" "NF2_000005" "g.30000028_30000029del" "0.19 reads" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "sporadic" "Somatic" "" "" "0" "" "" "g.29604039_29604040del" "" "likely pathogenic" "" "0000040479" "0" "79" "22" "30000039" "30000039" "subst" "0" "00732" "NF2_000004" "g.30000039C>T" "0.54 reads" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "sporadic" "Germline" "" "" "0" "" "" "g.29604050C>T" "" "likely pathogenic" "" "0000040480" "0" "79" "22" "30064352" "30064352" "del" "0" "00732" "NF2_000010" "g.30064352del" "0.50 reads" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "sporadic" "Germline" "" "" "0" "" "" "g.29668363del" "" "likely pathogenic" "" "0000040481" "0" "70" "22" "30050644" "30050644" "subst" "0" "00732" "NF2_000014" "g.30050644A>G" "0.60 reads" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "" "Germline" "" "" "" "" "" "g.29654655A>G" "" "likely pathogenic" "" "0000040482" "0" "79" "22" "30051598" "30051598" "subst" "0" "00732" "NF2_000008" "g.30051598C>T" "0.29 reads" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "" "Somatic" "" "" "0" "" "" "g.29655609C>T" "" "likely pathogenic" "" "0000040483" "0" "70" "22" "30032818" "30032818" "subst" "0" "00732" "NF2_000013" "g.30032818C>T" "0.02 reads" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "" "Somatic" "" "" "" "" "" "g.29636829C>T" "" "likely pathogenic" "" "0000040484" "0" "70" "22" "30032755" "30032758" "delins" "0" "00732" "NF2_000011" "g.30032755_30032758delinsCACACGGGCGGC" "0.145 reads" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "" "Somatic" "" "" "" "" "" "g.29636766_29636769delinsCACACGGGCGGC" "" "likely pathogenic" "" "0000040485" "0" "79" "22" "30032794" "30032794" "subst" "0" "00732" "NF2_000003" "g.30032794C>T" "0.075 reads" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "" "Somatic" "" "" "0" "" "" "g.29636805C>T" "" "likely pathogenic" "" "0000040486" "0" "70" "22" "30051652" "30051652" "subst" "0" "00732" "NF2_000015" "g.30051652C>T" "0.0195 reads" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "" "Somatic" "" "" "" "" "" "g.29655663C>T" "" "likely pathogenic" "" "0000040487" "0" "70" "22" "30051658" "30051658" "subst" "0" "00732" "NF2_000016" "g.30051658C>T" "0.037 reads" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "" "Somatic" "" "" "" "" "" "g.29655669C>T" "" "likely pathogenic" "" "0000040488" "0" "70" "22" "30070880" "30070880" "subst" "0" "00732" "NF2_000017" "g.30070880C>T" "0.087 reads" "{PMID:Contini 2015:26066488}, {DOI:Contini 2015:10.1371/journal.pone.0129099}" "" "" "" "Somatic" "" "" "" "" "" "g.29674891C>T" "" "likely pathogenic" "" "0000040489" "0" "70" "22" "30032786" "30032793" "del" "0" "00732" "NF2_000012" "g.30032786_30032793del" "" "" "" "" "" "Somatic" "" "" "" "" "" "g.29636797_29636804del" "" "likely pathogenic" "" "0000040490" "0" "77" "22" "30050662" "30050662" "subst" "0" "00732" "NF2_000007" "g.30050662C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "g.29654673C>T" "" "likely pathogenic" "" "0000040491" "0" "70" "22" "30000058" "30000058" "dup" "0" "00732" "NF2_000018" "g.30000058dup" "" "" "" "" "" "Somatic" "" "" "" "" "" "g.29604069dup" "" "likely pathogenic" "" "0000040492" "0" "70" "22" "30051658" "30051658" "subst" "0" "00732" "NF2_000016" "g.30051658C>T" "" "" "" "" "" "Somatic" "" "" "" "" "" "g.29655669C>T" "" "likely pathogenic" "" "0000040493" "0" "79" "22" "30032794" "30032794" "subst" "0" "00732" "NF2_000003" "g.30032794C>T" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.29636805C>T" "" "likely pathogenic" "" "0000040501" "0" "99" "22" "30077436" "30077436" "dup" "0" "00697" "NF2_000002" "g.30077436dup" "-" "-" "-" "" "" "Unknown" "?" "" "0" "-" "" "g.29681447dup" "" "pathogenic" "" "0000040502" "0" "99" "22" "30074273" "30074273" "del" "0" "00697" "NF2_000001" "g.30074273del" "" "-" "" "" "NF2 sporadic case" "Unknown" "" "" "0" "" "" "g.29678284del" "" "pathogenic" "" "0000156608" "0" "99" "22" "29999340" "29999891" "del" "0" "00697" "NF2_000070" "g.29999340_29999891del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29603351_29603902del" "" "pathogenic" "" "0000156609" "0" "99" "22" "29999545" "30000102" "del" "0" "00697" "NF2_000071" "g.(?_29999545)_(30000102_30032739)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000156610" "0" "99" "22" "29999545" "30090851" "del" "0" "00697" "NF2_000072" "g.(?_29999545)_(30090851_?)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000156613" "0" "99" "22" "30000100" "30000100" "del" "0" "00697" "NF2_000073" "g.30000100del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29604111del" "" "pathogenic" "" "0000156615" "0" "99" "22" "30032802" "30032802" "del" "0" "00697" "NF2_000020" "g.30032802del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29636813del" "" "pathogenic" "" "0000156616" "0" "99" "22" "30032823" "30032823" "subst" "0" "00697" "NF2_000021" "g.30032823C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29636834C>G" "" "pathogenic" "" "0000156617" "0" "99" "22" "30035064" "30035087" "del" "0" "00697" "NF2_000026" "g.30035064_30035087del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29639075_29639098del" "" "pathogenic" "" "0000156618" "0" "99" "22" "30035195" "30035197" "del" "0" "00697" "NF2_000029" "g.30035195_30035197del" "" "{PMID:Ahronowitz 2007:16983642}" "" "" "" "Unknown" "" "" "0" "" "" "g.29639206_29639208del" "" "pathogenic" "" "0000156619" "0" "99" "22" "30038200" "30038200" "subst" "0" "00697" "NF2_000033" "g.30038200C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29642211C>T" "" "pathogenic" "" "0000156621" "0" "99" "22" "30051598" "30051598" "subst" "0" "00697" "NF2_000008" "g.30051598C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29655609C>T" "" "pathogenic" "" "0000156622" "0" "99" "22" "30051634" "30051634" "dup" "0" "00697" "NF2_000038" "g.30051634dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29655645dup" "" "pathogenic" "" "0000156623" "0" "99" "22" "30051652" "30051652" "subst" "0" "00697" "NF2_000015" "g.30051652C>T" "" "{PMID:Ahronowitz 2007:16983642}" "" "" "CpG dinucleotide ; Mosaic" "De novo" "" "" "0" "" "" "g.29655663C>T" "" "pathogenic" "" "0000156624" "0" "55" "22" "30054191" "30054191" "subst" "0.0000730923" "00697" "NF2_000041" "g.30054191A>G" "" "{PMID:Evans 2005:15635074}" "" "" "" "Unknown" "" "" "0" "" "" "g.29658202A>G" "" "VUS" "" "0000156625" "0" "99" "22" "30057273" "30057274" "del" "0" "00697" "NF2_000044" "g.30057273_30057274del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29661284_29661285del" "" "pathogenic" "" "0000156626" "0" "99" "22" "30060941" "30061009" "del" "0" "00697" "NF2_000046" "g.30060941_30061009del" "" "{PMID:Zemmoura 2014:24357459}" "" "" "Skip of exon 9" "Unknown" "" "" "0" "" "" "g.29664952_29665020del" "" "pathogenic" "" "0000156629" "0" "99" "22" "30067911" "30067911" "subst" "0" "00697" "NF2_000049" "g.30067911G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29671922G>T" "" "pathogenic" "" "0000156630" "0" "99" "22" "30069255" "30069255" "subst" "0" "00697" "NF2_000050" "g.30069255C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29673266C>G" "" "pathogenic" "" "0000156631" "0" "99" "22" "30069256" "30069256" "subst" "0" "00697" "NF2_000051" "g.30069256A>G" "" "{PMID:Bourn 1995:7759081}" "" "" "" "Unknown" "" "" "0" "" "" "g.29673267A>G" "" "pathogenic" "" "0000156632" "0" "99" "22" "30069431" "30069434" "dup" "0" "00697" "NF2_000055" "g.30069431_30069434dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29673442_29673445dup" "" "pathogenic" "" "0000156633" "0" "99" "22" "30070824" "30070824" "subst" "0" "00697" "NF2_000059" "g.30070824G>A" "" "{PMID:Ruttledge 1996:8755919}" "" "" "" "Unknown" "" "" "0" "" "" "g.29674835G>A" "" "pathogenic" "" "0000156634" "0" "99" "22" "30077427" "30077427" "subst" "0" "00697" "NF2_000065" "g.30077427G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29681438G>C" "" "pathogenic" "" "0000156635" "0" "99" "22" "30074275" "30074275" "del" "0" "00697" "NF2_000061" "g.30074275del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29678286del" "" "pathogenic" "" "0000156636" "0" "99" "22" "30077474" "30077474" "subst" "0" "00697" "NF2_000069" "g.30077474G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29681485G>T" "" "pathogenic" "" "0000156637" "0" "99" "22" "29999545" "30090851" "del" "0" "00697" "NF2_000072" "g.(?_29999545)_(30090851_?)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000156638" "0" "99" "22" "29999545" "30090851" "del" "0" "00697" "NF2_000072" "g.(?_29999545)_(30090851_?)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000156639" "0" "99" "22" "29999545" "30090851" "del" "0" "00697" "NF2_000072" "g.(?_29999545)_(30090851_?)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000156640" "0" "99" "22" "30035078" "30090851" "del" "0" "00697" "NF2_000027" "g.(30032866_30035078)_(30090851_?)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000156641" "0" "99" "22" "30054177" "30090851" "del" "0" "00697" "NF2_000040" "g.(30051666_30054177)_(30090851_?)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000156642" "0" "99" "22" "30054228" "30054232" "del" "0" "00697" "NF2_000042" "g.30054228_30054232del" "" "" "" "" "Mosaic" "De novo" "" "" "0" "" "" "g.29658239_29658243del" "" "pathogenic" "" "0000156643" "0" "99" "22" "30062275" "30076247" "dup" "0" "00697" "NF2_000047" "g.30062275_30076247dup" "" "" "" "" "Mosaic" "De novo" "" "" "0" "" "" "g.29666286_29680258dup" "" "pathogenic" "" "0000156644" "0" "99" "22" "30000028" "30000029" "del" "0" "00697" "NF2_000005" "g.30000028_30000029del" "" "{PMID:Ahronowitz 2007:16983642}" "" "" "TC> tandem repeat" "Unknown" "" "" "0" "" "" "g.29604039_29604040del" "" "pathogenic" "" "0000156645" "0" "99" "22" "30032785" "30032791" "delins" "0" "00697" "NF2_000074" "g.30032785_30032791delinsGTGGGG" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29636796_29636802delinsGTGGGG" "" "pathogenic" "" "0000156646" "0" "99" "22" "30035181" "30035181" "subst" "0" "00697" "NF2_000028" "g.30035181C>T" "" "{PMID:Wallace 2004:15684865}" "" "" "Mosaic" "De novo" "" "" "0" "" "" "g.29639192C>T" "" "pathogenic" "" "0000156647" "0" "99" "22" "30035199" "30035199" "subst" "0" "00697" "NF2_000030" "g.30035199C>T" "" "{PMID:Irving 1997:9391673}" "" "" "Mosaic" "De novo" "" "" "0" "" "" "g.29639210C>T" "" "pathogenic" "" "0000156648" "0" "99" "22" "30050688" "30050688" "del" "0" "00697" "NF2_000035" "g.30050688del" "" "" "" "" "Mosaic" "De novo" "" "" "0" "" "" "g.29654699del" "" "pathogenic" "" "0000156649" "0" "99" "22" "30050691" "30050691" "subst" "0" "00697" "NF2_000036" "g.30050691C>T" "" "" "" "" "Mosaic" "De novo" "" "" "0" "" "" "g.29654702C>T" "" "pathogenic" "" "0000156650" "0" "99" "22" "30057302" "30057302" "subst" "0" "00697" "NF2_000045" "g.30057302C>T" "" "{PMID:Ahronowitz 2007:16983642}" "" "" "CpG dinucleotide ; Mosaic" "De novo" "" "" "0" "" "" "g.29661313C>T" "" "pathogenic" "" "0000156651" "0" "99" "22" "30057302" "30057302" "subst" "0" "00697" "NF2_000045" "g.30057302C>T" "" "{PMID:Ahronowitz 2007:16983642}" "" "" "CpG dinucleotide" "Unknown" "" "" "0" "" "" "g.29661313C>T" "" "pathogenic" "" "0000156652" "0" "99" "22" "30067836" "30067836" "subst" "0" "00697" "NF2_000048" "g.30067836C>T" "" "{PMID:Ahronowitz 2007:16983642}" "" "" "CpG dinucleotide ; Mosaic" "De novo" "" "" "0" "" "" "g.29671847C>T" "" "pathogenic" "" "0000156653" "0" "55" "22" "30069258" "30069258" "subst" "0" "00697" "NF2_000053" "g.30069258A>G" "" "" "" "" "First base of exon 12" "Unknown" "" "" "0" "" "" "g.29673269A>G" "" "VUS" "" "0000156654" "0" "55" "22" "30069330" "30069330" "subst" "0" "00697" "NF2_000054" "g.30069330G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29673341G>C" "" "VUS" "" "0000156655" "0" "77" "22" "30069475" "30069475" "subst" "0" "00697" "NF2_000057" "g.30069475G>A" "" "" "" "" "Last base of exon 12" "Unknown" "" "" "0" "" "" "g.29673486G>A" "" "likely pathogenic" "" "0000156656" "0" "99" "22" "30070880" "30070880" "subst" "0" "00697" "NF2_000017" "g.30070880C>T" "" "{PMID:Ahronowitz 2007:16983642}" "" "" "CpG dinucleotide" "Unknown" "" "" "0" "" "" "g.29674891C>T" "" "pathogenic" "" "0000156657" "0" "99" "22" "30070919" "30070923" "del" "0" "00697" "NF2_000060" "g.30070919_30070923del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29674930_29674934del" "" "pathogenic" "" "0000156658" "0" "55" "22" "30074278" "30074278" "subst" "0.000117757" "00697" "NF2_000062" "g.30074278A>G" "" "{PMID:Ahronowitz 2007:16983642}" "" "" "" "Unknown" "" "" "0" "" "" "g.29678289A>G" "" "VUS" "" "0000156659" "0" "55" "22" "30074278" "30074278" "subst" "0.000117757" "00697" "NF2_000062" "g.30074278A>G" "" "{PMID:Ahronowitz 2007:16983642}" "" "" "" "Unknown" "" "" "0" "" "" "g.29678289A>G" "" "VUS" "" "0000156660" "0" "55" "22" "30074288" "30074288" "subst" "0" "00697" "NF2_000063" "g.30074288T>C" "" "{PMID:Ahronowitz 2007:16983642}" "" "" "" "Unknown" "" "" "0" "" "" "g.29678299T>C" "" "VUS" "" "0000156661" "0" "99" "22" "30074308" "30074311" "del" "0" "00697" "NF2_000064" "g.30074308_30074311del" "" "" "" "" "GAAA > tandem repeat" "Unknown" "" "" "0" "" "" "g.29678319_29678322del" "" "pathogenic" "" "0000156662" "0" "99" "22" "30077459" "30077459" "subst" "0" "00697" "NF2_000067" "g.30077459C>T" "" "{PMID:Parry 1996:8751853}, {PMID:Evans 1998:9643284}, {PMID:Wallace 2004:15684865}" "" "" "" "Unknown" "" "" "0" "" "" "g.29681470C>T" "" "pathogenic" "" "0000156663" "0" "99" "22" "30077470" "30077470" "dup" "0" "00697" "NF2_000068" "g.30077470dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29681481dup" "" "pathogenic" "" "0000156664" "1" "99" "22" "30032793" "30032799" "delins" "0" "00697" "NF2_000019" "g.30032793_30032799delinsGGCAC" "" "" "" "" "Mosaic" "De novo" "" "" "0" "" "" "g.29636804_29636810delinsGGCAC" "" "pathogenic" "" "0000156665" "1" "99" "22" "30032848" "30032857" "dup" "0" "00697" "NF2_000022" "g.30032848_30032857dup" "" "" "" "" "Mosaic" "De novo" "" "" "0" "" "" "g.29636859_29636868dup" "" "pathogenic" "" "0000156666" "0" "99" "22" "30057194" "30057328" "dup" "0" "00697" "NF2_000043" "g.30057194_30057328dup" "" "" "" "p.(Asn226_Glu270dup)" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000156667" "0" "99" "22" "30069467" "30069467" "dup" "0" "00697" "NF2_000056" "g.30069467dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29673478dup" "" "pathogenic" "" "0000156668" "0" "99" "22" "30053423" "30066157" "dup" "0" "00697" "NF2_000039" "g.30053423_30066157dup" "" "" "" "p.(Met334fs)" "" "Unknown" "" "" "0" "" "" "g.29657434_29670168dup" "" "pathogenic" "" "0000156669" "0" "99" "22" "30077427" "30094589" "del" "0" "00697" "NF2_000066" "g.(30074313_30077427)_(30094589_?)del" "" "" "" "c.1575-?_1782+?del (p.(Val526Serfs*19))" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000156670" "0" "99" "22" "30069257" "30069257" "subst" "0" "00697" "NF2_000052" "g.30069257G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29673268G>A" "" "pathogenic" "" "0000156671" "0" "55" "22" "30069483" "30069483" "subst" "0.000376578" "00697" "NF2_000058" "g.30069483G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29673494G>T" "" "VUS" "" "0000156672" "0" "99" "22" "30077427" "30077427" "subst" "0" "00697" "NF2_000065" "g.30077427G>C" "" "{PMID:Ruttledge 1996:8755919}" "" "" "" "Unknown" "" "" "0" "" "" "g.29681438G>C" "" "pathogenic" "" "0000156673" "0" "99" "22" "30032866" "30032866" "subst" "0" "00697" "NF2_000023" "g.30032866G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29636877G>A" "" "pathogenic" "" "0000156674" "0" "99" "22" "30034488" "30037237" "del" "0" "00697" "NF2_000025" "g.30034488_30037237del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29638499_29641248del" "" "pathogenic" "" "0000156675" "0" "99" "22" "30035635" "30041669" "del" "0" "00697" "NF2_000031" "g.30035635_30041669del" "" "" "" "" "Mosaic" "De novo" "" "" "0" "" "" "g.29639646_29645680del" "" "pathogenic" "" "0000156676" "0" "99" "22" "30038088" "30040705" "del" "0" "00697" "NF2_000032" "g.30038088_30040705del" "" "" "" "" "Mosaic" "De novo" "" "" "0" "" "" "g.29642099_29644716del" "" "pathogenic" "" "0000156677" "0" "55" "22" "30050620" "30050620" "subst" "0.0000162619" "00697" "NF2_000034" "g.30050620G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29654631G>A" "" "VUS" "" "0000156678" "0" "99" "22" "30050716" "30050716" "subst" "0" "00697" "NF2_000037" "g.30050716T>C" "" "{PMID:Wallace 2004:15684865}" "" "" "" "Unknown" "" "" "0" "" "" "g.29654727T>C" "" "pathogenic" "" "0000156679" "0" "99" "22" "30051652" "30051652" "subst" "0" "00697" "NF2_000015" "g.30051652C>T" "" "{PMID:Ahronowitz 2007:16983642}" "" "" "CpG dinucleotide" "Unknown" "" "" "0" "" "" "g.29655663C>T" "" "pathogenic" "" "0000156681" "0" "99" "22" "30051658" "30051658" "subst" "0" "00697" "NF2_000016" "g.30051658C>T" "" "{PMID:Ahronowitz 2007:16983642}" "" "" "CpG dinucleotide ; Mosaic" "De novo" "" "" "0" "" "" "g.29655669C>T" "" "pathogenic" "" "0000156682" "0" "99" "22" "30051658" "30051658" "subst" "0" "00697" "NF2_000016" "g.30051658C>T" "" "{PMID:Ahronowitz 2007:16983642}" "" "" "CpG dinucleotide ; Mosaic" "De novo" "" "" "0" "" "" "g.29655669C>T" "" "pathogenic" "" "0000156683" "0" "99" "22" "30051658" "30051658" "subst" "0" "00697" "NF2_000016" "g.30051658C>T" "" "{PMID:Ahronowitz 2007:16983642}" "" "" "CpG dinucleotide ; Mosaic" "De novo" "" "" "0" "" "" "g.29655669C>T" "" "pathogenic" "" "0000156684" "0" "99" "22" "30051658" "30051658" "subst" "0" "00697" "NF2_000016" "g.30051658C>T" "" "{PMID:Ahronowitz 2007:16983642}" "" "" "CpG dinucleotide ; Mosaic" "De novo" "" "" "0" "" "" "g.29655669C>T" "" "pathogenic" "" "0000156687" "0" "99" "22" "30032866" "30032866" "subst" "0" "00697" "NF2_000024" "g.30032866G>T" "" "{PMID:Rouleau 1993:8379998}, {PMID:Twist 1994:8162016}" "" "" "" "Unknown" "" "" "0" "" "" "g.29636877G>T" "" "pathogenic" "" "0000156688" "0" "99" "22" "30032866" "30032866" "subst" "0" "00697" "NF2_000024" "g.30032866G>T" "" "{PMID:Rouleau 1993:8379998}, {PMID:Twist 1994:8162016}" "" "" "" "Unknown" "" "" "0" "" "" "g.29636877G>T" "" "pathogenic" "" "0000222645" "21" "90" "22" "30038255" "30038257" "del" "0" "00006" "NF2_000075" "g.30038255_30038257del" "" "{PMID:DiFrancesco 2014:24667735}, {DOI:DiFrancesco 2014:10.1684/epd.2014.0647}" "" "428_430delCTT" "" "Germline" "yes" "" "0" "" "" "g.29642266_29642268del" "" "pathogenic" "" "0000222646" "0" "79" "22" "30050657" "30050657" "subst" "0" "00732" "NF2_000006" "g.30050657C>A" "" "{PMID:Hung G et al 2000:10748301}; {PMID:Wallace AJ et al 2004:15684865}" "" "" "" "Unknown" "" "" "0" "" "" "g.29654668C>A" "" "likely pathogenic" "" "0000222647" "0" "79" "22" "30054254" "30054254" "subst" "0" "00732" "NF2_000009" "g.30054254G>T" "" "{PMID:Merel P et al 1995:7535084}" "" "" "" "Unknown" "" "" "0" "" "" "g.29658265G>T" "" "likely pathogenic" "" "0000222648" "0" "79" "22" "30000028" "30000029" "del" "0" "00732" "NF2_000005" "g.30000028_30000029del" "" "{PMID:Evans DG et al 1998:9643284}" "" "" "" "Unknown" "" "" "0" "" "" "g.29604039_29604040del" "" "likely pathogenic" "" "0000222649" "0" "79" "22" "30000039" "30000039" "subst" "0" "00732" "NF2_000004" "g.30000039C>T" "" "{PMID:Ruttledge MH et al 1996:8755919}" "" "" "" "Unknown" "" "" "0" "" "" "g.29604050C>T" "" "likely pathogenic" "" "0000222650" "0" "70" "22" "30050644" "30050644" "subst" "0" "00732" "NF2_000014" "g.30050644A>G" "" "Rouleau GA eta l., 1993; MacCollin M 1994; Kluwe L 1998; Evans DG 1998; Evans 2005; Mautner VF 2002" "" "" "" "Unknown" "" "" "0" "" "" "g.29654655A>G" "" "likely pathogenic" "" "0000222651" "0" "70" "22" "30032818" "30032818" "subst" "0" "00732" "NF2_000013" "g.30032818C>T" "" "Wallace AJ 2004; Kluwe L 2002" "" "" "" "Unknown" "" "" "0" "" "" "g.29636829C>T" "" "likely pathogenic" "" "0000222652" "0" "79" "22" "30032794" "30032794" "subst" "0" "00732" "NF2_000003" "g.30032794C>T" "" "Rouleau GA 1993; Jacoby LB 1994; Bourn D 1994; Merel P 1995; Parry DM 1996; Jacoby LB et al. 1999; Chen HJ 1998; Harada H 1999; Sestini R 2000; Kluwe L 2003; Evans DG 2005" "" "" "" "Unknown" "" "" "0" "" "" "g.29636805C>T" "" "likely pathogenic" "" "0000222653" "0" "70" "22" "30051652" "30051652" "subst" "0" "00732" "NF2_000015" "g.30051652C>T" "" "Bourn D 1995; MacCollin M 1996; Evans DG 1998; Kluwe L 1998; Kluwe L 2000; Lamszus K 2000; Hagel C 2002; Kluwe L 2003;Wallace AJ 2004" "" "" "" "Unknown" "" "" "0" "" "" "g.29655663C>T" "" "likely pathogenic" "" "0000222654" "0" "70" "22" "30051658" "30051658" "subst" "0" "00732" "NF2_000016" "g.30051658C>T" "" "Evans DG 1998; Kluwe L 2000; Wallace AJ 2004; Evans DG 2005" "" "" "" "Unknown" "" "" "0" "" "" "g.29655669C>T" "" "likely pathogenic" "" "0000222655" "0" "70" "22" "30070880" "30070880" "subst" "0" "00732" "NF2_000017" "g.30070880C>T" "" "Jacoby LB 1994; MacCollin M 1994; Bourn D 1995; Parry DM 1996; Kluwe L 2000; Kluwe L 2003; Aghi M 2006" "" "" "" "Unknown" "" "" "0" "" "" "g.29674891C>T" "" "likely pathogenic" "" "0000222656" "0" "70" "22" "30000058" "30000058" "dup" "0" "00732" "NF2_000018" "g.30000058dup" "" "Jacoby LB 1996; Wellenreuther R 1995" "" "" "" "Unknown" "" "" "0" "" "" "g.29604069dup" "" "likely pathogenic" "" "0000222657" "0" "70" "22" "30051658" "30051658" "subst" "0" "00732" "NF2_000016" "g.30051658C>T" "" "Evans DG 1998; Kluwe L 2000; Wallace AJ 2004; Evans DG 2005" "" "" "" "Unknown" "" "" "0" "" "" "g.29655669C>T" "" "likely pathogenic" "" "0000222658" "0" "79" "22" "30032794" "30032794" "subst" "0" "00732" "NF2_000003" "g.30032794C>T" "" "Rouleau GA 1993; Jacoby LB 1994; Bourn D 1994; Merel P 1995; Parry DM 1996; Jacoby LB et al. 1999; Chen HJ 1998; Harada H 1999; Sestini R 2000; Kluwe L 2003; Evans DG 2005" "" "" "" "Unknown" "" "" "0" "" "" "g.29636805C>T" "" "likely pathogenic" "" "0000222881" "1" "90" "22" "30050946" "30050946" "subst" "0" "00006" "NF2_000076" "g.30050946G>A" "" "{PMID:de Klein 1998:09466995}" "BfaI-;MaeII+" "" "variant hypothesized to create a branchpoint activating a cryptic exon" "Germline" "yes" "" "0" "" "" "g.29654957G>A" "" "pathogenic" "" "0000249270" "0" "10" "22" "30090806" "30090806" "subst" "0" "02325" "NF2_000130" "g.30090806A>C" "" "" "" "NF2(NM_181832.3):c.*90A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29694817A>C" "" "benign" "" "0000252457" "0" "70" "22" "30035070" "30035070" "subst" "0" "02326" "NF2_000084" "g.30035070A>G" "" "" "" "NF2(NM_000268.3):c.241-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29639081A>G" "" "likely pathogenic" "" "0000255495" "0" "90" "22" "30064370" "30064370" "subst" "0" "01943" "NF2_000133" "g.30064370A>T" "" "" "" "NF2(NM_000268.3):c.934A>T (p.K312*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29668381A>T" "" "pathogenic" "" "0000255775" "0" "90" "22" "30038189" "30038189" "subst" "0" "01943" "NF2_000093" "g.30038189A>G" "" "" "" "NF2(NM_000268.3):c.364-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29642200A>G" "" "pathogenic" "" "0000255776" "0" "90" "22" "30070823" "30070823" "subst" "0" "01943" "NF2_000116" "g.30070823A>C" "" "" "" "NF2(NM_000268.3):c.1341-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29674834A>C" "" "pathogenic" "" "0000255777" "0" "90" "22" "30070823" "30070823" "subst" "0" "01943" "NF2_000134" "g.30070823A>G" "" "" "" "NF2(NM_000268.3):c.1341-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29674834A>G" "" "pathogenic" "" "0000255778" "0" "90" "22" "30077593" "30077593" "subst" "0.00000409752" "01943" "NF2_000127" "g.30077593A>T" "" "" "" "NF2(NM_000268.3):c.1737+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29681604A>T" "" "pathogenic" "" "0000256326" "0" "50" "22" "30074278" "30074278" "subst" "0.000117757" "01943" "NF2_000062" "g.30074278A>G" "" "" "" "NF2(NM_000268.3):c.1540A>G (p.M514V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29678289A>G" "" "VUS" "" "0000296460" "0" "90" "22" "30032866" "30032866" "del" "0" "02325" "NF2_000082" "g.30032866del" "" "" "" "NF2(NM_181832.3):c.240delG (p.V81Yfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29636877del" "" "pathogenic" "" "0000296461" "0" "30" "22" "30064307" "30064307" "subst" "0.000504102" "02325" "NF2_000107" "g.30064307C>T" "" "" "" "NF2(NM_000268.3):c.886-15C>T, NF2(NM_181832.3):c.886-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29668318C>T" "" "likely benign" "" "0000298568" "0" "30" "22" "30070871" "30070871" "subst" "0.000105323" "02329" "NF2_000118" "g.30070871G>A" "" "" "" "NF2(NM_000268.3):c.1387G>A (p.E463K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29674882G>A" "" "likely benign" "" "0000298569" "0" "30" "22" "30077551" "30077551" "subst" "0.0000162662" "02329" "NF2_000126" "g.30077551C>T" "" "" "" "NF2(NM_000268.3):c.1698C>T (p.S566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29681562C>T" "" "likely benign" "" "0000298570" "0" "30" "22" "30035220" "30035220" "subst" "0.000255981" "02329" "NF2_000092" "g.30035220C>A" "" "" "" "NF2(NM_000268.3):c.363+19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29639231C>A" "" "likely benign" "" "0000300028" "0" "90" "22" "30035181" "30035181" "subst" "0" "02326" "NF2_000028" "g.30035181C>T" "" "" "" "NF2(NM_000268.3):c.343C>T (p.Q115*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29639192C>T" "" "pathogenic" "" "0000304052" "0" "30" "22" "30067794" "30067794" "subst" "0.00000406451" "01943" "NF2_000108" "g.30067794G>A" "" "" "" "NF2(NM_000268.3):c.1000-21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29671805G>A" "" "likely benign" "" "0000304053" "0" "90" "22" "30067823" "30067823" "del" "0" "01943" "NF2_000109" "g.30067823del" "" "" "" "NF2(NM_000268.3):c.1008delG (p.Q337Sfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29671834del" "" "pathogenic" "" "0000304054" "0" "90" "22" "30067836" "30067836" "subst" "0" "01943" "NF2_000048" "g.30067836C>T" "" "" "" "NF2(NM_000268.3):c.1021C>T (p.R341*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29671847C>T" "" "pathogenic" "" "0000304055" "0" "30" "22" "30067928" "30067928" "subst" "0.000840589" "01943" "NF2_000110" "g.30067928C>T" "" "" "" "NF2(NM_000268.3):c.1113C>T (p.N371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29671939C>T" "" "likely benign" "" "0000304056" "0" "90" "22" "30067934" "30067948" "delins" "0" "01943" "NF2_000111" "g.30067934_30067948delinsCATTTCTGCTTCT" "" "" "" "NF2(NM_000268.3):c.1119_1122+11delACTGATGCGGTCTGAinsCATTTCTGCTTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29671945_29671959delinsCATTTCTGCTTCT" "" "pathogenic" "" "0000304057" "0" "90" "22" "30069330" "30069339" "del" "0" "01943" "NF2_000112" "g.30069330_30069339del" "" "" "" "NF2(NM_000268.3):c.1195_1204delGCCCAGAAGG (p.A399Pfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29673341_29673350del" "" "pathogenic" "" "0000304058" "0" "90" "22" "30032747" "30032747" "subst" "0" "01943" "NF2_000077" "g.30032747G>A" "" "" "" "NF2(NM_000268.3):c.122G>A (p.W41*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29636758G>A" "" "pathogenic" "" "0000304059" "0" "30" "22" "30069392" "30069392" "subst" "0" "01943" "NF2_000113" "g.30069392G>C" "" "" "" "NF2(NM_181832.2):c.1257G>C (p.T419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29673403G>C" "" "likely benign" "" "0000304060" "0" "10" "22" "30069406" "30069406" "subst" "0.0000248597" "01943" "NF2_000114" "g.30069406G>A" "" "" "" "NF2(NM_000268.3):c.1271G>A (p.R424H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29673417G>A" "" "benign" "" "0000304061" "0" "90" "22" "30069469" "30069472" "del" "0" "01943" "NF2_000115" "g.30069469_30069472del" "" "" "" "NF2(NM_000268.3):c.1334_1337delAGAG (p.E445Gfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29673480_29673483del" "" "pathogenic" "" "0000304062" "0" "90" "22" "30070824" "30070824" "subst" "0" "01943" "NF2_000059" "g.30070824G>A" "" "" "" "NF2(NM_000268.3):c.1341-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29674835G>A" "" "pathogenic" "" "0000304063" "0" "50" "22" "30032762" "30032762" "subst" "0" "01943" "NF2_000078" "g.30032762T>G" "" "" "" "NF2(NM_000268.3):c.137T>G (p.L46R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29636773T>G" "" "VUS" "" "0000304064" "0" "90" "22" "30070868" "30070868" "del" "0" "01943" "NF2_000117" "g.30070868del" "" "" "" "NF2(NM_000268.3):c.1384delC (p.R462Afs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29674879del" "" "pathogenic" "" "0000304065" "0" "90" "22" "30070880" "30070880" "subst" "0" "01943" "NF2_000017" "g.30070880C>T" "" "" "" "NF2(NM_000268.3):c.1396C>T (p.R466*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29674891C>T" "" "pathogenic" "" "0000304066" "0" "90" "22" "30070931" "30070931" "subst" "0" "01943" "NF2_000119" "g.30070931G>A" "" "" "" "NF2(NM_000268.3):c.1446+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29674942G>A" "" "pathogenic" "" "0000304067" "0" "90" "22" "30074241" "30074241" "del" "0" "01943" "NF2_000120" "g.30074241del" "" "" "" "NF2(NM_000268.3):c.1503delT (p.I501Mfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29678252del" "" "pathogenic" "" "0000304068" "0" "90" "22" "30032777" "30032777" "del" "0" "01943" "NF2_000079" "g.30032777del" "" "" "" "NF2(NM_000268.3):c.152delG (p.C51Sfs*72)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29636788del" "" "pathogenic" "" "0000304069" "0" "90" "22" "30074290" "30074300" "del" "0" "01943" "NF2_000121" "g.30074290_30074300del" "" "" "" "NF2(NM_000268.3):c.1552_1562delTCCATGGAGAT (p.S518Rfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29678301_29678311del" "" "pathogenic" "" "0000304070" "0" "90" "22" "30077427" "30077427" "subst" "0" "01943" "NF2_000123" "g.30077427G>A" "" "" "" "NF2(NM_000268.3):c.1575-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29681438G>A" "" "pathogenic" "" "0000304071" "0" "50" "22" "30077425" "30077425" "subst" "0" "01943" "NF2_000122" "g.30077425C>A" "" "" "" "NF2(NM_000268.3):c.1575-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29681436C>A" "" "VUS" "" "0000304072" "0" "90" "22" "30077465" "30077465" "subst" "0" "01943" "NF2_000124" "g.30077465C>T" "" "" "" "NF2(NM_000268.3):c.1612C>T (p.Q538*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29681476C>T" "" "pathogenic" "" "0000304073" "0" "50" "22" "30032786" "30032786" "subst" "0" "01943" "NF2_000080" "g.30032786T>C" "" "" "" "NF2(NM_000268.3):c.161T>C (p.L54P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29636797T>C" "" "VUS" "" "0000304074" "0" "50" "22" "30077492" "30077492" "subst" "0.000268044" "01943" "NF2_000125" "g.30077492G>A" "" "" "" "NF2(NM_181832.2):c.1639G>A (p.E547K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29681503G>A" "" "VUS" "" "0000304075" "0" "90" "22" "30032794" "30032794" "subst" "0" "01943" "NF2_000003" "g.30032794C>T" "" "" "" "NF2(NM_000268.3):c.169C>T (p.R57*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29636805C>T" "" "pathogenic" "" "0000304077" "0" "50" "22" "30090776" "30090778" "del" "0" "01943" "NF2_000129" "g.30090776_30090778del" "" "" "" "NF2(NM_000268.3):c.1773_1775delCTT (p.F592del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29694787_29694789del" "" "VUS" "" "0000304078" "0" "50" "22" "30032810" "30032810" "subst" "0" "01943" "NF2_000081" "g.30032810T>C" "" "" "" "NF2(NM_000268.3):c.185T>C (p.F62S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29636821T>C" "" "VUS" "" "0000304079" "0" "90" "22" "30032866" "30032866" "subst" "0" "01943" "NF2_000024" "g.30032866G>T" "" "" "" "NF2(NM_000268.3):c.240+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29636877G>T" "" "pathogenic" "" "0000304080" "0" "50" "22" "30032865" "30032865" "subst" "0" "01943" "NF2_000083" "g.30032865G>C" "" "" "" "NF2(NM_000268.3):c.240G>C (p.K80N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29636876G>C" "" "VUS" "" "0000304081" "0" "90" "22" "30035078" "30035078" "subst" "0" "01943" "NF2_000085" "g.30035078G>A" "" "" "" "NF2(NM_000268.3):c.241-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29639089G>A" "" "pathogenic" "" "0000304082" "0" "90" "22" "30035078" "30035078" "subst" "0" "01943" "NF2_000086" "g.30035078G>T" "" "" "" "NF2(NM_000268.3):c.241-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29639089G>T" "" "pathogenic" "" "0000304083" "0" "90" "22" "30035103" "30035103" "del" "0" "01943" "NF2_000087" "g.30035103del" "" "" "" "NF2(NM_000268.3):c.265delG (p.E89Kfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29639114del" "" "pathogenic" "" "0000304085" "0" "90" "22" "30035141" "30035141" "subst" "0" "01943" "NF2_000089" "g.30035141T>G" "" "" "" "NF2(NM_000268.3):c.303T>G (p.Y101*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29639152T>G" "" "pathogenic" "" "0000304086" "0" "90" "22" "30035145" "30035145" "subst" "0" "01943" "NF2_000090" "g.30035145G>T" "" "" "" "NF2(NM_000268.3):c.307G>T (p.E103*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29639156G>T" "" "pathogenic" "" "0000304087" "0" "30" "22" "30035163" "30035163" "subst" "0.0000487329" "01943" "NF2_000091" "g.30035163C>T" "" "" "" "NF2(NM_000268.3):c.325C>T (p.L109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29639174C>T" "" "likely benign" "" "0000304088" "0" "90" "22" "30038233" "30038233" "subst" "0" "01943" "NF2_000094" "g.30038233G>T" "" "" "" "NF2(NM_000268.3):c.406G>T (p.E136*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29642244G>T" "" "pathogenic" "" "0000304089" "0" "70" "22" "30038249" "30038249" "subst" "0" "01943" "NF2_000095" "g.30038249T>C" "" "" "" "NF2(NM_000268.3):c.422T>C (p.L141P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29642260T>C" "" "likely pathogenic" "" "0000304090" "0" "90" "22" "30038263" "30038266" "del" "0" "01943" "NF2_000096" "g.30038263_30038266del" "" "" "" "NF2(NM_000268.3):c.436_439delGTCC (p.V146Rfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29642274_29642277del" "" "pathogenic" "" "0000304091" "0" "90" "22" "30050657" "30050657" "delins" "0" "01943" "NF2_000097" "g.30050657delinsTG" "" "" "" "NF2(NM_000268.3):c.459delCinsTG (p.D154Gfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29654668delinsTG" "" "pathogenic" "" "0000304092" "0" "90" "22" "30050678" "30050684" "del" "0" "01943" "NF2_000098" "g.30050678_30050684del" "" "" "" "NF2(NM_000268.3):c.480_486delGGGATTT (p.G161Wfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29654689_29654695del" "" "pathogenic" "" "0000304093" "0" "50" "22" "30051614" "30051614" "subst" "0" "01943" "NF2_000099" "g.30051614T>C" "" "" "" "NF2(NM_000268.3):c.548T>C (p.M183T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29655625T>C" "" "VUS" "" "0000304094" "0" "90" "22" "30051627" "30051628" "del" "0" "01943" "NF2_000100" "g.30051627_30051628del" "" "" "" "NF2(NM_000268.3):c.561_562delAA (p.R187Sfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29655638_29655639del" "" "pathogenic" "" "0000304095" "0" "90" "22" "30051652" "30051652" "subst" "0" "01943" "NF2_000015" "g.30051652C>T" "" "" "" "NF2(NM_000268.3):c.586C>T (p.R196*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29655663C>T" "" "pathogenic" "" "0000304096" "0" "90" "22" "30051658" "30051658" "subst" "0" "01943" "NF2_000016" "g.30051658C>T" "" "" "" "NF2(NM_000268.3):c.592C>T (p.R198*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29655669C>T" "" "pathogenic" "" "0000304097" "0" "90" "22" "30054241" "30054241" "subst" "0" "01943" "NF2_000101" "g.30054241C>G" "" "" "" "NF2(NM_000268.3):c.663C>G (p.Y221*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29658252C>G" "" "pathogenic" "" "0000304098" "0" "90" "22" "30054258" "30054258" "subst" "0" "01943" "NF2_000102" "g.30054258G>A" "" "" "" "NF2(NM_000268.3):c.675+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29658269G>A" "" "pathogenic" "" "0000304099" "0" "90" "22" "30057220" "30057220" "dup" "0" "01943" "NF2_000103" "g.30057220dup" "" "" "" "NF2(NM_000268.3):c.702dupT (p.G235Wfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29661231dup" "" "pathogenic" "" "0000304100" "0" "90" "22" "30057312" "30057312" "subst" "0" "01943" "NF2_000104" "g.30057312C>A" "" "" "" "NF2(NM_000268.3):c.794C>A (p.S265*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29661323C>A" "" "pathogenic" "" "0000304101" "0" "90" "22" "30057329" "30057329" "subst" "0" "01943" "NF2_000105" "g.30057329G>T" "" "" "" "NF2(NM_000268.3):c.810+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29661340G>T" "" "pathogenic" "" "0000304102" "0" "90" "22" "30057330" "30057330" "subst" "0" "01943" "NF2_000106" "g.30057330T>C" "" "" "" "NF2(NM_000268.3):c.810+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29661341T>C" "" "pathogenic" "" "0000304103" "0" "10" "22" "30064307" "30064307" "subst" "0.000504102" "01943" "NF2_000107" "g.30064307C>T" "" "" "" "NF2(NM_000268.3):c.886-15C>T, NF2(NM_181832.3):c.886-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29668318C>T" "" "benign" "" "0000337662" "0" "90" "22" "30067938" "30067938" "subst" "0" "02327" "NF2_000132" "g.30067938G>A" "" "" "" "NF2(NM_000268.3):c.1122+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29671949G>A" "" "pathogenic" "" "0000346896" "0" "70" "22" "30038249" "30038249" "subst" "0" "02327" "NF2_000095" "g.30038249T>C" "" "" "" "NF2(NM_000268.3):c.422T>C (p.L141P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29642260T>C" "" "likely pathogenic" "" "0000349987" "0" "90" "22" "30054241" "30054241" "subst" "0" "02327" "NF2_000101" "g.30054241C>G" "" "" "" "NF2(NM_000268.3):c.663C>G (p.Y221*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29658252C>G" "" "pathogenic" "" "0000571742" "0" "90" "22" "30035108" "30035111" "dup" "0" "01943" "NF2_000139" "g.30035108_30035111dup" "" "" "" "NF2(NM_000268.3):c.270_273dupACCA (p.V92Tfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29639119_29639122dup" "" "pathogenic" "" "0000571743" "0" "90" "22" "30051594" "30051595" "del" "0" "01943" "NF2_000140" "g.30051594_30051595del" "" "" "" "NF2(NM_000268.3):c.528_529delGT (p.Y177Sfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29655605_29655606del" "" "pathogenic" "" "0000571744" "0" "90" "22" "30051630" "30051630" "del" "0" "02327" "NF2_000141" "g.30051630del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29655641del" "" "pathogenic" "" "0000571745" "0" "90" "22" "30067938" "30067938" "subst" "0" "01943" "NF2_000132" "g.30067938G>A" "" "" "" "NF2(NM_000268.3):c.1122+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29671949G>A" "" "pathogenic" "" "0000571746" "0" "90" "22" "30070872" "30070872" "del" "0" "01943" "NF2_000142" "g.30070872del" "" "" "" "NF2(NM_000268.3):c.1388delA (p.E463Gfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29674883del" "" "pathogenic" "" "0000571747" "0" "50" "22" "30077438" "30077438" "subst" "0" "02327" "NF2_000143" "g.30077438A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29681449A>G" "" "VUS" "" "0000618553" "0" "90" "22" "30032794" "30032794" "subst" "0" "02327" "NF2_000003" "g.30032794C>T" "" "" "" "NF2(NM_000268.3):c.169C>T (p.R57*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29636805C>T" "" "pathogenic" "" "0000624285" "0" "30" "22" "30070873" "30070873" "subst" "0" "01943" "NF2_000144" "g.30070873G>A" "" "" "" "NF2(NM_181832.2):c.1389G>A (p.E463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29674884G>A" "" "likely benign" "" "0000650945" "1" "30" "22" "30094366" "30094366" "subst" "0" "03575" "NF2_000145" "g.30094366G>A" "9/2783 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs41278851}" "Germline" "" "rs41278851" "0" "" "" "g.29698377G>A" "" "likely benign" "" "0000658924" "0" "70" "22" "30032786" "30032786" "subst" "0" "02327" "NF2_000080" "g.30032786T>C" "" "" "" "NF2(NM_000268.3):c.161T>C (p.L54P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29636797T>C" "" "likely pathogenic" "" "0000660106" "0" "50" "22" "30074207" "30074207" "subst" "0.0000162422" "01164" "NF2_000146" "g.30074207C>T" "" "" "" "" "ACMG grading: PM2" "Germline" "" "rs765100922" "0" "" "" "g.29678218C>T" "" "VUS" "ACMG" "0000675228" "0" "70" "22" "30090765" "30090765" "subst" "0" "03753" "NF2_000148" "g.30090765C>T" "0.031" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000681847" "0" "90" "22" "30038200" "30038200" "subst" "0" "02327" "NF2_000033" "g.30038200C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682763" "0" "70" "22" "30090765" "30090765" "subst" "0" "03753" "NF2_000148" "g.30090765C>T" "0.059" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000685857" "0" "90" "22" "30000067" "30000067" "del" "0" "01741" "NF2_000149" "g.30000067del" "" "" "" "" "evidence of possible 0.20 mosaicismvariant allele in Sanger sequencing" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000711518" "0" "70" "22" "30061054" "30061054" "subst" "0" "01164" "NF2_000150" "g.30061054G>T" "" "" "" "" "ACMG: PVS1, PM2 class 4" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000728101" "0" "90" "22" "30032866" "30032866" "subst" "0" "02327" "NF2_000023" "g.30032866G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728102" "0" "30" "22" "30067928" "30067928" "subst" "0.000840589" "02326" "NF2_000110" "g.30067928C>T" "" "" "" "NF2(NM_000268.3):c.1113C>T (p.N371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787492" "0" "70" "22" "30067836" "30067836" "subst" "0" "00000" "NF2_000048" "g.30067836C>T" "" "0" "" "" "secondary finding" "Germline" "" "" "0" "" "" "g.29671847C>T" "" "likely pathogenic" "" "0000798562" "0" "70" "22" "30051642" "30051642" "del" "0" "01164" "NF2_000153" "g.30051642del" "" "" "" "" "found in schwannoma A; VAF: 40%" "Somatic" "-" "" "0" "" "" "g.29655653del" "" "likely pathogenic (dominant)" "ACMG" "0000798563" "0" "70" "22" "30051652" "30051652" "subst" "0" "01164" "NF2_000015" "g.30051652C>T" "" "" "" "" "found in schwannoma B; VAF: 31%" "Somatic" "-" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000809566" "0" "90" "22" "30035128" "30035128" "del" "0" "02325" "NF2_000151" "g.30035128del" "" "" "" "NF2(NM_000268.4):c.290delT (p.L97Wfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809567" "0" "30" "22" "30050629" "30050629" "subst" "0.000426795" "02327" "NF2_000152" "g.30050629C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000834669" "0" "50" "22" "30000100" "30000100" "subst" "0" "04185" "NF2_000154" "g.30000100A>C" "" "Sadler et al 2022 (submitted)" "" "" "Identified by UAB Medical Genomics Laboratory" "Germline" "" "" "0" "" "" "g.29604111A>C" "" "VUS" "ACGS" "0000836053" "0" "50" "22" "30032816" "30032816" "subst" "0" "04185" "NF2_000155" "g.30032816T>G" "" "Sadler et al 2022 (submitted)" "" "" "Identified by UAB Medical Genomics Laboratory" "Germline" "" "" "" "" "" "g.29636827T>G" "" "VUS" "ACGS" "0000836054" "0" "50" "22" "30054209" "30054209" "subst" "0" "04185" "NF2_000156" "g.30054209G>C" "" "Sadler et al 2022 (submitted)" "" "" "Identified by UAB Medical Genomics Laboratory" "Germline" "" "" "" "" "" "g.29658220G>C" "" "VUS" "ACGS" "0000836105" "0" "50" "22" "30054210" "30054210" "subst" "0" "04185" "NF2_000157" "g.30054210C>A" "" "Sadler et al 2022 (submitted)" "" "" "Identified by UAB Medical Genomics Laboratory; PMID:21383154, 20178741,10327069" "Germline" "" "" "0" "" "" "g.29658221C>A" "" "VUS" "ACGS" "0000837002" "0" "90" "22" "30074270" "30074270" "subst" "0" "04185" "NF2_000163" "g.30074270A>G" "" "Sadler et al 2022 (submitted)" "" "" "Identified by UAB Medical Genomics Laboratory; PMID: 28409725" "Germline" "" "" "" "" "" "g.29678281A>G" "" "likely pathogenic" "ACGS" "0000837028" "0" "50" "22" "30077454" "30077454" "subst" "0" "04185" "NF2_000164" "g.30077454A>C" "" "Sadler et al 2022 (submitted)" "" "" "Identified by UAB Medical Genomics Laboratory" "Germline" "" "" "0" "" "" "g.29681465A>C" "" "VUS" "ACGS" "0000837030" "0" "50" "22" "30077457" "30077457" "subst" "0" "04185" "NF2_000165" "g.30077457T>G" "" "Sadler et al 2022 (submitted)" "" "" "Identified by UAB Medical Genomics Laboratory" "Germline" "" "" "" "" "" "g.29681468T>G" "" "VUS" "ACGS" "0000837031" "0" "50" "22" "30077469" "30077469" "subst" "0" "04185" "NF2_000166" "g.30077469T>C" "" "Sadler et al 2022 (submitted)" "" "" "Identified by UAB Medical Genomics Laboratory" "Germline" "" "" "" "" "" "g.29681480T>C" "" "VUS" "ACGS" "0000837033" "0" "50" "22" "30054201" "30054201" "subst" "0" "04185" "NF2_000159" "g.30054201T>C" "" "Sadler et al 2022 (submitted)" "" "" "Identified by UAB Medical Genomics Laboratory" "Germline" "" "" "" "" "" "g.29658212T>C" "" "VUS" "ACGS" "0000837034" "0" "50" "22" "30074269" "30074269" "subst" "0" "04185" "NF2_000162" "g.30074269G>T" "" "Sadler et a 2022 (submitted)" "" "" "Identified by UAB Medical Genomics Laboratory" "Germline" "" "" "" "" "" "g.29678280G>T" "" "VUS" "ACGS" "0000837223" "0" "50" "22" "30032762" "30032762" "subst" "0" "04185" "NF2_000158" "g.30032762T>A" "" "Sadler et al. 2022 (submitted)" "" "" "Identified by the NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine" "Germline" "" "" "" "" "" "g.29636773T>A" "" "VUS" "ACGS" "0000837224" "0" "50" "22" "30057327" "30057327" "subst" "0" "04185" "NF2_000160" "g.30057327A>T" "" "Sadler et al. 2022 (submitted)" "" "" "Identified by the NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine" "Germline" "" "" "" "" "" "g.29661338A>T" "" "VUS" "ACGS" "0000837225" "0" "50" "22" "30069283" "30069283" "subst" "0" "04185" "NF2_000161" "g.30069283T>C" "" "Sadler et al. 2022 (submitted)" "" "" "Identified by the NW Genomics Laboratory Hub, Manchester Centre for Genomic Medicine" "Germline" "" "" "" "" "" "g.29673294T>C" "" "VUS" "ACGS" "0000837226" "0" "50" "22" "30077495" "30077495" "subst" "0" "04185" "NF2_000167" "g.30077495G>C" "" "Sadler et al. 2022 (submitted)" "" "" "Identified by the NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine" "Germline" "" "" "" "" "" "g.29681506G>C" "" "VUS" "ACGS" "0000866812" "0" "90" "22" "30070932" "30070933" "del" "0" "01943" "NF2_000168" "g.30070932_30070933del" "" "" "" "NF2(NM_000268.3):c.1446+2_1446+3delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000877477" "0" "90" "22" "29951726" "30074211" "del" "0" "02255" "NF2_000169" "g.(?_29951726)_(30074211_?)del" "" "" "" "c.1_491del" "deletion extends from the exon 10 of NIPSNAP1 gene (g.29951726) to exon 14 of the NF2 gene (g.30074211)." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000877508" "1" "90" "22" "29951726" "30125105" "del" "0" "02255" "NF2_000171" "g.(?_29951726)_(30125105_?)del" "" "" "" "c.1_596del" "deletion extends from the exon 10 of NIPSNAP1 gene (g.29951726) to exon 4 of CABP7 gene (g.30125105)." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000877509" "0" "90" "22" "29951726" "30125105" "del" "0" "02255" "NF2_000171" "g.(?_29951726)_(30125105_?)del" "" "" "" "c.1_596del" "deletion extends from the exon 10 of NIPSNAP1 gene (g.29951726) to exon 4 of CABP7 gene (g.30125105)." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000895674" "0" "90" "22" "30051667" "30051667" "subst" "0" "02327" "NF2_000172" "g.30051667T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895675" "0" "90" "22" "30057302" "30057302" "subst" "0" "02327" "NF2_000045" "g.30057302C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915522" "0" "50" "22" "30050695" "30050695" "subst" "0.00000406197" "02327" "NF2_000173" "g.30050695A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927151" "0" "70" "22" "30032865" "30032865" "subst" "0" "02327" "NF2_000174" "g.30032865G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000927152" "0" "90" "22" "30077458" "30077458" "del" "0" "02325" "NF2_000175" "g.30077458del" "" "" "" "NF2(NM_000268.4):c.1605delG (p.Q536Rfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931273" "0" "90" "22" "30051598" "30051598" "subst" "0" "02327" "NF2_000008" "g.30051598C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931274" "0" "90" "22" "30069476" "30069476" "subst" "0" "02325" "NF2_000176" "g.30069476G>A" "" "" "" "NF2(NM_181832.3):c.1340+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NF2 ## Count = 222 "{{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}}" "0000040476" "00014503" "70" "459" "0" "459" "0" "c.459C>A" "r.(?)" "p.(Tyr153*)" "5" "0000040477" "00014503" "70" "675" "1" "675" "1" "c.675+1G>T" "r.spl?" "p.?" "7" "0000040478" "00014503" "70" "41" "0" "42" "0" "c.41_42del" "r.(?)" "p.(Leu14Glnfs*34)" "1" "0000040479" "00014503" "79" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Gln18*)" "1" "0000040480" "00014503" "70" "916" "0" "916" "0" "c.916del" "r.(?)" "p.(Leu306Tyrfs*3)" "10" "0000040481" "00014503" "70" "448" "-2" "448" "-2" "c.448-2A>G" "r.spl?" "p.?" "5" "0000040482" "00014503" "70" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Gln178*)" "6" "0000040483" "00014503" "70" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(Gln65*)" "2" "0000040484" "00014503" "70" "130" "0" "133" "0" "c.130_133delinsCACACGGGCGGC" "r.(?)" "p.(Lys44Hisfs*82)" "2" "0000040485" "00014503" "79" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57*)" "2" "0000040486" "00014503" "70" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196*)" "6" "0000040487" "00014503" "70" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198*)" "6" "0000040488" "00014503" "70" "1396" "0" "1396" "0" "c.1396C>T" "r.(?)" "p.(Arg466*)" "13" "0000040489" "00014503" "70" "161" "0" "168" "0" "c.161_168del" "r.(?)" "p.(Leu54Profs*29)" "2" "0000040490" "00014503" "70" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Pro155Leu)" "5" "0000040491" "00014503" "70" "71" "0" "71" "0" "c.71dup" "r.(?)" "p.(Arg25Glufs*24)" "1" "0000040492" "00014503" "70" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198*)" "6" "0000040493" "00014503" "79" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57*)" "2" "0000040501" "00014503" "99" "1583" "0" "1583" "0" "c.1583dup" "r.(?)" "p.(Tyr528*)" "" "0000040502" "00014503" "99" "1535" "0" "1535" "0" "c.1535del" "r.1535del" "p.Thr512Metfs*3" "14" "0000156608" "00014503" "99" "-648" "0" "-97" "0" "c.-648_-97del" "r.?" "p.?" "_1" "0000156609" "00014503" "99" "-443" "0" "115" "0" "c.-443_(114+1_115-1){0}" "r.(?)" "p.?" "_1_1i" "0000156610" "00014503" "99" "-443" "0" "1848" "0" "c.-443_(*60_?){0}" "r.(?)" "p.?" "_1_17_" "0000156613" "00014503" "99" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Glu38Glyfs*2)" "1" "0000156615" "00014503" "99" "177" "0" "177" "0" "c.177del" "r.(?)" "p.(Trp60Glyfs*63)" "2" "0000156616" "00014503" "99" "198" "0" "198" "0" "c.198C>G" "r.(?)" "p.(Tyr66*)" "2" "0000156617" "00014503" "99" "241" "-15" "249" "0" "c.241-15_249del" "r.spl?" "p.?" "2i_3" "0000156618" "00014503" "99" "357" "0" "359" "0" "c.357_359del" "r.(?)" "p.(Phe119del)" "3" "0000156619" "00014503" "99" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Gln125*)" "4" "0000156621" "00014503" "99" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Gln178*)" "6" "0000156622" "00014503" "99" "568" "0" "568" "0" "c.568dup" "r.(?)" "p.(Ala190Glyfs*13)" "6" "0000156623" "00014503" "99" "586" "0" "586" "0" "c.586C>T" "r.586c>u" "p.Arg196*" "6" "0000156624" "00014503" "55" "613" "0" "613" "0" "c.613A>G" "r.613a>g" "p.Met205Val" "7" "0000156625" "00014503" "99" "755" "0" "756" "0" "c.755_756del" "r.(?)" "p.(Pro252Glnfs*8)" "8" "0000156626" "00014503" "99" "811" "-38" "841" "0" "c.811-38_841del" "r.811_885del" "p.Phe271_Leu295del" "8i_9" "0000156629" "00014503" "99" "1096" "0" "1096" "0" "c.1096G>T" "r.(?)" "p.(Glu366*)" "11" "0000156630" "00014503" "99" "1123" "-3" "1123" "-3" "c.1123-3C>G" "r.spl?" "p.?" "11i" "0000156631" "00014503" "99" "1123" "-2" "1123" "-2" "c.1123-2A>G" "r.spl?" "p.?" "11i" "0000156632" "00014503" "99" "1296" "0" "1299" "0" "c.1296_1299dup" "r.(?)" "p.(Glu434Serfs*10)" "12" "0000156633" "00014503" "99" "1341" "-1" "1341" "-1" "c.1341-1G>A" "r.spl?" "p.?" "12i" "0000156634" "00014503" "99" "1575" "-1" "1575" "-1" "c.1575-1G>C" "r.spl?" "p.?" "14i" "0000156635" "00014503" "99" "1537" "0" "1537" "0" "c.1537del" "r.(?)" "p.(Asp513Thrfs*2)" "14" "0000156636" "00014503" "99" "1621" "0" "1621" "0" "c.1621G>T" "r.(?)" "p.(Glu541*)" "15" "0000156637" "00014503" "99" "-443" "0" "1848" "0" "c.-443_(*60_?){0}" "r.(?)" "p.?" "_1_17_" "0000156638" "00014503" "99" "-443" "0" "1848" "0" "c.-443_(*60_?){0}" "r.(?)" "p.?" "_1_17_" "0000156639" "00014503" "99" "-443" "0" "1848" "0" "c.-443_(*60_?){0}" "r.(?)" "p.?" "_1_17_" "0000156640" "00014503" "99" "241" "-1" "1848" "0" "c.(240+1_241-1)_(*60_?)del" "r.(?)" "p.?" "2i_17_" "0000156641" "00014503" "99" "600" "-1" "1848" "0" "c.(599+1_600-1)_(*60_?)del" "r.(?)" "p.?" "6i_17_" "0000156642" "00014503" "99" "650" "0" "654" "0" "c.650_654del" "r.(?)" "p.(Tyr217Cysfs*9)" "7" "0000156643" "00014503" "99" "885" "1222" "1575" "-1181" "c.885+1222_1575-1181dup" "r.?" "p.?" "9i_14i" "0000156644" "00014503" "99" "41" "0" "42" "0" "c.41_42del" "r.(?)" "p.(Leu14Glnfs*34)" "1" "0000156645" "00014503" "99" "160" "0" "166" "0" "c.160_166delinsGTGGGG" "r.(?)" "p.(Leu54Valfs*69)" "2" "0000156646" "00014503" "99" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Gln115*)" "3" "0000156647" "00014503" "99" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Gln121*)" "3" "0000156648" "00014503" "99" "490" "0" "490" "0" "c.490del" "r.(?)" "p.(Ala164Profs*10)" "5" "0000156649" "00014503" "99" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Gln165*)" "5" "0000156650" "00014503" "99" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262*)" "8" "0000156651" "00014503" "99" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262*)" "8" "0000156652" "00014503" "99" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Arg341*)" "11" "0000156653" "00014503" "55" "1123" "0" "1123" "0" "c.1123A>G" "r.spl?" "p.(Met375Val)" "12" "0000156654" "00014503" "55" "1195" "0" "1195" "0" "c.1195G>C" "r.(?)" "p.(Ala399Pro)" "12" "0000156655" "00014503" "77" "1340" "0" "1340" "0" "c.1340G>A" "r.spl?" "p.(Arg447Lys)" "12" "0000156656" "00014503" "99" "1396" "0" "1396" "0" "c.1396C>T" "r.(?)" "p.(Arg466*)" "13" "0000156657" "00014503" "99" "1435" "0" "1439" "0" "c.1435_1439del" "r.(?)" "p.(Pro479Valfs*14)" "13" "0000156658" "00014503" "55" "1540" "0" "1540" "0" "c.1540A>G" "r.(?)" "p.(Met514Val)" "14" "0000156659" "00014503" "55" "1540" "0" "1540" "0" "c.1540A>G" "r.(?)" "p.(Met514Val)" "14" "0000156660" "00014503" "55" "1550" "0" "1550" "0" "c.1550T>C" "r.(?)" "p.(Leu517Pro)" "14" "0000156661" "00014503" "99" "1570" "0" "1573" "0" "c.1570_1573del" "r.(?)" "p.(Glu524Lysfs*25)" "14" "0000156662" "00014503" "99" "1606" "0" "1606" "0" "c.1606C>T" "r.(?)" "p.(Gln536*)" "15" "0000156663" "00014503" "99" "1617" "0" "1617" "0" "c.1617dup" "r.(?)" "p.(Asn540Glnfs*2)" "15" "0000156664" "00014503" "99" "168" "0" "174" "0" "c.168_174delinsGGCAC" "r.(?)" "p.(Arg57Alafs*28)" "2" "0000156665" "00014503" "99" "223" "0" "232" "0" "c.223_232dup" "r.(?)" "p.(Asp78Alafs*11)" "2" "0000156666" "00014503" "99" "676" "-1" "810" "1" "c.(675+1_676-1)_(810+1_811-1)dup" "r.?" "p.?" "7i_8i" "0000156667" "00014503" "99" "1332" "0" "1332" "0" "c.1332dup" "r.(?)" "p.(Glu445Argfs*50)" "12" "0000156668" "00014503" "99" "600" "-755" "1000" "-1658" "c.600-755_1000-1658dup" "r.?" "p.?" "6i_10i" "0000156669" "00014503" "99" "1575" "0" "5586" "0" "c.(1574+1_1575-1)_*3798{0}" "r.(?)" "p.?" "14i_17_" "0000156670" "00014503" "99" "1123" "-1" "1123" "-1" "c.1123-1G>A" "r.spl?" "p.?" "11i" "0000156671" "00014503" "55" "1340" "8" "1340" "8" "c.1340+8G>T" "r.spl?" "p.(=)" "12i" "0000156672" "00014503" "99" "1575" "-1" "1575" "-1" "c.1575-1G>C" "r.spl?" "p.?" "14i" "0000156673" "00014503" "99" "240" "1" "240" "1" "c.240+1G>A" "r.spl?" "p.?" "2i" "0000156674" "00014503" "99" "241" "-591" "364" "-954" "c.241-591_364-954del" "r.(?)" "p.(Leu82_Val122del)" "2i_3i" "0000156675" "00014503" "99" "363" "434" "447" "3395" "c.363+434_447+3395del" "r.(?)" "p.(Val122_Lys149del)" "3i_4i" "0000156676" "00014503" "99" "364" "-103" "447" "2431" "c.364-103_447+2431del" "r.(?)" "p.(Val122_Lys149del)" "3i_4i" "0000156677" "00014503" "55" "448" "-26" "448" "-26" "c.448-26G>A" "r.spl?" "p.(=)" "4i" "0000156678" "00014503" "99" "516" "2" "516" "2" "c.516+2T>C" "r.spl?" "p.?" "5i" "0000156679" "00014503" "99" "586" "0" "586" "0" "c.586C>T" "r.586c>u" "p.Arg196*" "6" "0000156681" "00014503" "99" "592" "0" "592" "0" "c.592C>T" "r.592c>u" "p.Arg198*" "6" "0000156682" "00014503" "99" "592" "0" "592" "0" "c.592C>T" "r.592c>u" "p.Arg198*" "6" "0000156683" "00014503" "99" "592" "0" "592" "0" "c.592C>T" "r.592c>u" "p.Arg198*" "6" "0000156684" "00014503" "99" "592" "0" "592" "0" "c.592C>T" "r.592c>u" "p.Arg198*" "6" "0000156687" "00014503" "99" "240" "1" "240" "1" "c.240+1G>T" "r.115_240del" "p.Met39_Lys80del" "2i" "0000156688" "00014503" "99" "240" "1" "240" "1" "c.240+1G>T" "r.115_240del" "p.Met39_Lys80del" "2i" "0000222645" "00014503" "90" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Ser143del)" "4" "0000222646" "00014503" "70" "459" "0" "459" "0" "c.459C>A" "r.(?)" "p.(Tyr153*)" "5" "0000222647" "00014503" "70" "675" "1" "675" "1" "c.675+1G>T" "r.spl?" "p.?" "7" "0000222648" "00014503" "70" "41" "0" "42" "0" "c.41_42del" "r.(?)" "p.(Leu14Glnfs*34)" "1" "0000222649" "00014503" "79" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Gln18*)" "1" "0000222650" "00014503" "70" "448" "-2" "448" "-2" "c.448-2A>G" "r.spl?" "p.?" "5" "0000222651" "00014503" "70" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(Gln65*)" "2" "0000222652" "00014503" "79" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57*)" "2" "0000222653" "00014503" "70" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196*)" "6" "0000222654" "00014503" "70" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198*)" "6" "0000222655" "00014503" "70" "1396" "0" "1396" "0" "c.1396C>T" "r.(?)" "p.(Arg466*)" "13" "0000222656" "00014503" "70" "71" "0" "71" "0" "c.71dup" "r.(?)" "p.(Arg25Glufs*24)" "1" "0000222657" "00014503" "70" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198*)" "6" "0000222658" "00014503" "79" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57*)" "2" "0000222881" "00014503" "90" "516" "232" "516" "232" "c.516+232G>A" "r.516_517ins516+250_516+355" "p.Val173Metfs32*" "5i" "0000249270" "00014503" "10" "1803" "0" "1803" "0" "c.*15A>C" "r.(=)" "p.(=)" "" "0000252457" "00014503" "70" "241" "-9" "241" "-9" "c.241-9A>G" "r.(=)" "p.(=)" "" "0000255495" "00014503" "90" "934" "0" "934" "0" "c.934A>T" "r.(?)" "p.(Lys312Ter)" "" "0000255775" "00014503" "90" "364" "-2" "364" "-2" "c.364-2A>G" "r.spl?" "p.?" "" "0000255776" "00014503" "90" "1341" "-2" "1341" "-2" "c.1341-2A>C" "r.spl?" "p.?" "" "0000255777" "00014503" "90" "1341" "-2" "1341" "-2" "c.1341-2A>G" "r.spl?" "p.?" "" "0000255778" "00014503" "90" "1737" "3" "1737" "3" "c.1737+3A>T" "r.spl?" "p.?" "" "0000256326" "00014503" "50" "1540" "0" "1540" "0" "c.1540A>G" "r.(?)" "p.(Met514Val)" "" "0000296460" "00014503" "90" "240" "1" "240" "1" "c.240+1del" "r.spl?" "p.?" "" "0000296461" "00014503" "30" "886" "-15" "886" "-15" "c.886-15C>T" "r.(=)" "p.(=)" "" "0000298568" "00014503" "30" "1387" "0" "1387" "0" "c.1387G>A" "r.(?)" "p.(Glu463Lys)" "" "0000298569" "00014503" "30" "1698" "0" "1698" "0" "c.1698C>T" "r.(?)" "p.(Ser566=)" "" "0000298570" "00014503" "30" "363" "19" "363" "19" "c.363+19C>A" "r.(=)" "p.(=)" "" "0000300028" "00014503" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Gln115Ter)" "" "0000304052" "00014503" "30" "1000" "-21" "1000" "-21" "c.1000-21G>A" "r.(=)" "p.(=)" "" "0000304053" "00014503" "90" "1008" "0" "1008" "0" "c.1008del" "r.(?)" "p.(Gln337SerfsTer9)" "" "0000304054" "00014503" "90" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Arg341Ter)" "" "0000304055" "00014503" "30" "1113" "0" "1113" "0" "c.1113C>T" "r.(?)" "p.(Asn371=)" "" "0000304056" "00014503" "90" "1119" "0" "1122" "11" "c.1119_1122+11delinsCATTTCTGCTTCT" "r.spl?" "p.?" "" "0000304057" "00014503" "90" "1195" "0" "1204" "0" "c.1195_1204del" "r.(?)" "p.(Ala399ProfsTer24)" "" "0000304058" "00014503" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Trp41Ter)" "" "0000304059" "00014503" "30" "1257" "0" "1257" "0" "c.1257G>C" "r.(?)" "p.(Thr419=)" "" "0000304060" "00014503" "10" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Arg424His)" "" "0000304061" "00014503" "90" "1334" "0" "1337" "0" "c.1334_1337del" "r.(?)" "p.(Glu445GlyfsTer9)" "" "0000304062" "00014503" "90" "1341" "-1" "1341" "-1" "c.1341-1G>A" "r.spl?" "p.?" "" "0000304063" "00014503" "50" "137" "0" "137" "0" "c.137T>G" "r.(?)" "p.(Leu46Arg)" "" "0000304064" "00014503" "90" "1384" "0" "1384" "0" "c.1384del" "r.(?)" "p.(Arg462AlafsTer23)" "" "0000304065" "00014503" "90" "1396" "0" "1396" "0" "c.1396C>T" "r.(?)" "p.(Arg466Ter)" "" "0000304066" "00014503" "90" "1446" "1" "1446" "1" "c.1446+1G>A" "r.spl?" "p.?" "" "0000304067" "00014503" "90" "1503" "0" "1503" "0" "c.1503del" "r.(?)" "p.(Ile501MetfsTer14)" "" "0000304068" "00014503" "90" "152" "0" "152" "0" "c.152del" "r.(?)" "p.(Cys51SerfsTer72)" "" "0000304069" "00014503" "90" "1552" "0" "1562" "0" "c.1552_1562del" "r.(?)" "p.(Ser518ArgfsTer20)" "" "0000304070" "00014503" "90" "1575" "-1" "1575" "-1" "c.1575-1G>A" "r.spl?" "p.?" "" "0000304071" "00014503" "50" "1575" "-3" "1575" "-3" "c.1575-3C>A" "r.spl?" "p.?" "" "0000304072" "00014503" "90" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Gln538Ter)" "" "0000304073" "00014503" "50" "161" "0" "161" "0" "c.161T>C" "r.(?)" "p.(Leu54Pro)" "" "0000304074" "00014503" "50" "1639" "0" "1639" "0" "c.1639G>A" "r.(?)" "p.(Glu547Lys)" "" "0000304075" "00014503" "90" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Ter)" "" "0000304077" "00014503" "50" "1773" "0" "1775" "0" "c.1773_1775del" "r.(?)" "p.(Phe592del)" "" "0000304078" "00014503" "50" "185" "0" "185" "0" "c.185T>C" "r.(?)" "p.(Phe62Ser)" "" "0000304079" "00014503" "90" "240" "1" "240" "1" "c.240+1G>T" "r.spl?" "p.?" "" "0000304080" "00014503" "50" "240" "0" "240" "0" "c.240G>C" "r.(?)" "p.(Lys80Asn)" "" "0000304081" "00014503" "90" "241" "-1" "241" "-1" "c.241-1G>A" "r.spl?" "p.?" "" "0000304082" "00014503" "90" "241" "-1" "241" "-1" "c.241-1G>T" "r.spl?" "p.?" "" "0000304083" "00014503" "90" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Glu89LysfsTer34)" "" "0000304085" "00014503" "90" "303" "0" "303" "0" "c.303T>G" "r.(?)" "p.(Tyr101Ter)" "" "0000304086" "00014503" "90" "307" "0" "307" "0" "c.307G>T" "r.(?)" "p.(Glu103Ter)" "" "0000304087" "00014503" "30" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Leu109=)" "" "0000304088" "00014503" "90" "406" "0" "406" "0" "c.406G>T" "r.(?)" "p.(Glu136Ter)" "" "0000304089" "00014503" "70" "422" "0" "422" "0" "c.422T>C" "r.(?)" "p.(Leu141Pro)" "" "0000304090" "00014503" "90" "436" "0" "439" "0" "c.436_439del" "r.(?)" "p.(Val146ArgfsTer27)" "" "0000304091" "00014503" "90" "459" "0" "459" "0" "c.459delinsTG" "r.(?)" "p.(Asp154GlyfsTer49)" "" "0000304092" "00014503" "90" "480" "0" "486" "0" "c.480_486del" "r.(?)" "p.(Gly161TrpfsTer11)" "" "0000304093" "00014503" "50" "548" "0" "548" "0" "c.548T>C" "r.(?)" "p.(Met183Thr)" "" "0000304094" "00014503" "90" "561" "0" "562" "0" "c.561_562del" "r.(?)" "p.(Arg187SerfsTer15)" "" "0000304095" "00014503" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Ter)" "" "0000304096" "00014503" "90" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198Ter)" "" "0000304097" "00014503" "90" "663" "0" "663" "0" "c.663C>G" "r.(?)" "p.(Tyr221Ter)" "" "0000304098" "00014503" "90" "675" "5" "675" "5" "c.675+5G>A" "r.spl?" "p.?" "" "0000304099" "00014503" "90" "702" "0" "702" "0" "c.702dup" "r.(?)" "p.(Gly235TrpfsTer11)" "" "0000304100" "00014503" "90" "794" "0" "794" "0" "c.794C>A" "r.(?)" "p.(Ser265Ter)" "" "0000304101" "00014503" "90" "810" "1" "810" "1" "c.810+1G>T" "r.spl?" "p.?" "" "0000304102" "00014503" "90" "810" "2" "810" "2" "c.810+2T>C" "r.spl?" "p.?" "" "0000304103" "00014503" "10" "886" "-15" "886" "-15" "c.886-15C>T" "r.(=)" "p.(=)" "" "0000337662" "00014503" "90" "1122" "1" "1122" "1" "c.1122+1G>A" "r.spl?" "p.?" "" "0000346896" "00014503" "70" "422" "0" "422" "0" "c.422T>C" "r.(?)" "p.(Leu141Pro)" "" "0000349987" "00014503" "90" "663" "0" "663" "0" "c.663C>G" "r.(?)" "p.(Tyr221Ter)" "" "0000571742" "00014503" "90" "270" "0" "273" "0" "c.270_273dup" "r.(?)" "p.(Val92ThrfsTer13)" "" "0000571743" "00014503" "90" "528" "0" "529" "0" "c.528_529del" "r.(?)" "p.(Tyr177SerfsTer25)" "" "0000571744" "00014503" "90" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Thr189LeufsTer20)" "" "0000571745" "00014503" "90" "1122" "1" "1122" "1" "c.1122+1G>A" "r.spl?" "p.?" "" "0000571746" "00014503" "90" "1388" "0" "1388" "0" "c.1388del" "r.(?)" "p.(Glu463GlyfsTer22)" "" "0000571747" "00014503" "50" "1585" "0" "1585" "0" "c.1585A>G" "r.(?)" "p.(Met529Val)" "" "0000618553" "00014503" "90" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Ter)" "" "0000624285" "00014503" "30" "1389" "0" "1389" "0" "c.1389G>A" "r.(?)" "p.(Glu463=)" "" "0000650945" "00014503" "30" "5363" "0" "5363" "0" "c.*3575G>A" "r.(=)" "p.(=)" "" "0000658924" "00014503" "70" "161" "0" "161" "0" "c.161T>C" "r.(?)" "p.(Leu54Pro)" "" "0000660106" "00014503" "50" "1469" "0" "1469" "0" "c.1469C>T" "r.(?)" "p.(Pro490Leu)" "" "0000675228" "00014503" "70" "1762" "0" "1762" "0" "c.1762C>T" "r.(?)" "p.(Arg588*)" "" "0000681847" "00014503" "90" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Gln125Ter)" "" "0000682763" "00014503" "70" "1762" "0" "1762" "0" "c.1762C>T" "r.(?)" "p.(Arg588*)" "" "0000685857" "00014503" "90" "80" "0" "80" "0" "c.80del" "r.(?)" "p.(Val27Alafs*13)" "" "0000711518" "00014503" "70" "885" "1" "885" "1" "c.885+1G>T" "r.spl?" "p.?" "In9" "0000728101" "00014503" "90" "240" "1" "240" "1" "c.240+1G>A" "r.spl?" "p.?" "" "0000728102" "00014503" "30" "1113" "0" "1113" "0" "c.1113C>T" "r.(?)" "p.(Asn371=)" "" "0000787492" "00014503" "70" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Arg341Ter)" "" "0000798562" "00014503" "70" "576" "0" "576" "0" "c.576del" "r.(?)" "p.(Tyr192*)" "" "0000798563" "00014503" "70" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196*)" "" "0000809566" "00014503" "90" "290" "0" "290" "0" "c.290del" "r.(?)" "p.(Leu97Trpfs*26)" "" "0000809567" "00014503" "30" "448" "-17" "448" "-17" "c.448-17C>T" "r.(=)" "p.(=)" "" "0000834669" "00014503" "50" "113" "0" "113" "0" "c.113A>C" "r.(?)" "p.(Glu38Ala)" "1" "0000836053" "00014503" "50" "191" "0" "191" "0" "c.191T>G" "r.(?)" "p.(Leu64Arg)" "2" "0000836054" "00014503" "50" "631" "0" "631" "0" "c.631G>C" "r.(?)" "p.(Ala211Pro)" "7" "0000836105" "00014503" "50" "632" "0" "632" "0" "c.632C>A" "r.(?)" "p.(Ala211Asp)" "7" "0000837002" "00014503" "90" "1532" "0" "1532" "0" "c.1532A>G" "r.1533_1575del" "p.Asp511Valfs*24" "14" "0000837028" "00014503" "50" "1601" "0" "1601" "0" "c.1601A>C" "r.(?)" "p.(His534Pro)" "15" "0000837030" "00014503" "50" "1604" "0" "1604" "0" "c.1604T>G" "r.(?)" "p.(Leu535Arg)" "15" "0000837031" "00014503" "50" "1616" "0" "1616" "0" "c.1616T>C" "r.(?)" "p.(Leu539Pro)" "15" "0000837033" "00014503" "50" "623" "0" "623" "0" "c.623T>C" "r.(?)" "p.(Leu208Pro)" "7" "0000837034" "00014503" "50" "1531" "0" "1531" "0" "c.1531G>T" "r.(?)" "p.(Asp511Tyr)" "14" "0000837223" "00014503" "50" "137" "0" "137" "0" "c.137T>A" "r.(?)" "p.(Leu46His)" "2" "0000837224" "00014503" "50" "809" "0" "809" "0" "c.809A>T" "r.(?)" "p.(Glu270Val)" "8" "0000837225" "00014503" "50" "1148" "0" "1148" "0" "c.1148T>C" "r.(?)" "p.(Leu383Pro)" "12" "0000837226" "00014503" "50" "1642" "0" "1642" "0" "c.1642G>C" "r.(?)" "p.(Ala548Pro)" "15" "0000866812" "00014503" "90" "1446" "2" "1446" "3" "c.1446+2_1446+3del" "r.spl?" "p.?" "" "0000877477" "00014503" "90" "0" "0" "0" "0" "c.-443_(1473_?){0}" "r.0?" "p.0?" "_1_14i" "0000877508" "00014503" "90" "0" "0" "0" "0" "c.-443_*3798{0}" "r.0" "p.0" "_1_16_" "0000877509" "00014503" "90" "0" "0" "0" "0" "c.-443_*3798{0}" "r.0" "p.0" "_1_16_" "0000895674" "00014503" "90" "599" "2" "599" "2" "c.599+2T>A" "r.spl?" "p.?" "" "0000895675" "00014503" "90" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262*)" "" "0000915522" "00014503" "50" "497" "0" "497" "0" "c.497A>T" "r.(?)" "p.(Glu166Val)" "" "0000927151" "00014503" "70" "240" "0" "240" "0" "c.240G>A" "r.(?)" "p.(Lys80=)" "" "0000927152" "00014503" "90" "1605" "0" "1605" "0" "c.1605del" "r.(?)" "p.(Gln536Argfs*14)" "" "0000931273" "00014503" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Gln178*)" "" "0000931274" "00014503" "90" "1340" "1" "1340" "1" "c.1340+1G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 132 "{{screeningid}}" "{{variantid}}" "0000019959" "0000040476" "0000019960" "0000040477" "0000019961" "0000040478" "0000019962" "0000040479" "0000019963" "0000040480" "0000019964" "0000040481" "0000019965" "0000040482" "0000019966" "0000040483" "0000019967" "0000040484" "0000019968" "0000040485" "0000019969" "0000040486" "0000019970" "0000040487" "0000019971" "0000040488" "0000019972" "0000040489" "0000019973" "0000040490" "0000019974" "0000040491" "0000019975" "0000040492" "0000019976" "0000040493" "0000019983" "0000040502" "0000096153" "0000156608" "0000096154" "0000156609" "0000096155" "0000156610" "0000096158" "0000156613" "0000096160" "0000156615" "0000096161" "0000156616" "0000096162" "0000156617" "0000096163" "0000156618" "0000096164" "0000156619" "0000096166" "0000156621" "0000096167" "0000156622" "0000096168" "0000156623" "0000096169" "0000156624" "0000096170" "0000156625" "0000096171" "0000156626" "0000096174" "0000156629" "0000096175" "0000156630" "0000096176" "0000156631" "0000096177" "0000156632" "0000096178" "0000156633" "0000096179" "0000156634" "0000096180" "0000156635" "0000096181" "0000156636" "0000096182" "0000156637" "0000096183" "0000156638" "0000096184" "0000156639" "0000096185" "0000156640" "0000096186" "0000156641" "0000096187" "0000156642" "0000096188" "0000156643" "0000096189" "0000156644" "0000096190" "0000156645" "0000096191" "0000156646" "0000096192" "0000156647" "0000096193" "0000156648" "0000096194" "0000156649" "0000096195" "0000156650" "0000096196" "0000156651" "0000096197" "0000156652" "0000096198" "0000156653" "0000096199" "0000156654" "0000096200" "0000156655" "0000096201" "0000156656" "0000096202" "0000156657" "0000096203" "0000156658" "0000096204" "0000156659" "0000096205" "0000156660" "0000096206" "0000156661" "0000096207" "0000156662" "0000096208" "0000156663" "0000096209" "0000156664" "0000096210" "0000156665" "0000096211" "0000156666" "0000096212" "0000156667" "0000096213" "0000156668" "0000096214" "0000156669" "0000096215" "0000156670" "0000096216" "0000156671" "0000096217" "0000156672" "0000096218" "0000156673" "0000096219" "0000156674" "0000096220" "0000156675" "0000096221" "0000156676" "0000096222" "0000156677" "0000096223" "0000156678" "0000096224" "0000156679" "0000096226" "0000156681" "0000096227" "0000156682" "0000096228" "0000156683" "0000096229" "0000156684" "0000096232" "0000156687" "0000096233" "0000156688" "0000133432" "0000222645" "0000133433" "0000222646" "0000133434" "0000222647" "0000133435" "0000222648" "0000133436" "0000222649" "0000133437" "0000222650" "0000133438" "0000222651" "0000133439" "0000222652" "0000133440" "0000222653" "0000133441" "0000222654" "0000133442" "0000222655" "0000133443" "0000222656" "0000133444" "0000222657" "0000133445" "0000222658" "0000133635" "0000222881" "0000294256" "0000650945" "0000297504" "0000660106" "0000308287" "0000675228" "0000308401" "0000682763" "0000310831" "0000685857" "0000327725" "0000711518" "0000375551" "0000787492" "0000384120" "0000798562" "0000384120" "0000798563" "0000401430" "0000834669" "0000402156" "0000836053" "0000402157" "0000836054" "0000402185" "0000836105" "0000402768" "0000837002" "0000402769" "0000837028" "0000402795" "0000837030" "0000402796" "0000837031" "0000402797" "0000837033" "0000402798" "0000837034" "0000402923" "0000837223" "0000402924" "0000837224" "0000402925" "0000837225" "0000402926" "0000837226" "0000417748" "0000877477" "0000417779" "0000877509" "0000417780" "0000877508"