### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRRT2) # 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}}" "PRRT2" "proline-rich transmembrane protein 2" "16" "p11.2" "unknown" "NG_032039.1" "UD_132463001038" "" "https://www.LOVD.nl/PRRT2" "" "1" "30500" "112476" "614386" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/PRRT2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-03-29 00:00:00" "00006" "2017-07-04 21:22:11" "00000" "2026-03-02 11:17:03" ## 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}}" "00016952" "PRRT2" "proline-rich transmembrane protein 2" "001" "NM_145239.2" "" "NP_660282.2" "" "" "" "-301" "2266" "1023" "29823409" "29827202" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01295" "DYT10" "dystonia, type 10 (DYT-10)" "AD" "128200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04629" "ICCA" "convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA)" "AD" "602066" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "04630" "BFIS2" "Seizures, benign familial infantile, type 2 (BFIS-2)" "AD" "605751" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "PRRT2" "01295" "PRRT2" "04629" "PRRT2" "04630" ## Individuals ## Do not remove or alter this header ## ## Count = 55 "{{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}}" "00036582" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036583" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036584" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050370" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected mother/child" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050653" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050683" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00107914" "" "" "" "1" "" "00233" "{PMID:Chen 2011:22101681}" "" "" "" "" "" "0" "" "" "" "" "00107915" "" "" "" "1" "" "00233" "{PMID:Chen 2011:22101681}" "" "" "" "" "" "0" "" "" "" "" "00107916" "" "" "" "1" "" "00233" "{PMID:Chen 2011:22101681}" "" "" "" "" "" "0" "" "" "" "" "00107917" "" "" "" "1" "" "00233" "{PMID:Heron 2012:22243967}" "" "" "" "" "" "0" "" "" "" "" "00107918" "" "" "" "1" "" "00233" "{PMID:Heron 2012:22243967}" "" "" "" "" "" "0" "" "" "" "" "00107919" "" "" "" "1" "" "00233" "{PMID:Chen 2011:22101681}" "" "" "" "" "" "0" "" "" "" "" "00107920" "" "" "" "1" "" "00233" "{PMID:Chen 2011:22101681}" "" "" "" "" "" "0" "" "" "" "" "00107921" "" "" "" "1" "" "00233" "{PMID:Brain. 2011:22120146}" "" "" "" "" "" "0" "" "" "" "" "00107922" "" "" "" "1" "" "00233" "{PMID:Li 2012:22131361}" "" "" "" "" "" "0" "" "" "" "" "00107923" "" "" "" "1" "" "00233" "{PMID:Li 2012:22131361}" "" "" "" "" "" "0" "" "" "" "" "00107924" "" "" "" "1" "" "00233" "{PMID:Li 2012:22131361}" "" "" "" "" "" "0" "" "" "" "" "00107925" "" "" "" "1" "" "00233" "{PMID:Li 2012:22131361}" "" "" "" "" "" "0" "" "" "" "" "00107926" "" "" "" "1" "" "00233" "{PMID:Heron 2012:22243967}" "" "" "" "" "" "0" "" "" "" "" "00107927" "" "" "" "1" "" "02078" "{PMID:Schubert 2012:22623405}" "" "" "" "" "" "0" "" "" "" "" "00151965" "" "" "" "1" "" "02376" "" "" "F" "?" "Netherlands" "" "0" "" "" "White" "" "00153034" "" "" "" "1" "" "02376" "" "" "M" "" "Netherlands" "" "0" "" "" "white" "" "00153062" "" "" "" "1" "" "02376" "" "" "F" "" "Netherlands" "" "0" "" "" "white" "" "00153085" "" "" "" "1" "" "02376" "" "" "M" "" "Netherlands" "" "0" "" "" "white" "" "00153086" "" "" "" "1" "" "02376" "" "" "F" "" "Netherlands" "" "0" "" "" "white" "" "00153280" "" "" "" "1" "" "02376" "" "" "F" "" "Netherlands" "" "0" "" "" "white" "" "00153281" "" "" "" "1" "" "02376" "" "" "F" "" "Netherlands" "" "0" "" "" "white" "" "00153283" "" "" "" "1" "" "02376" "" "" "F" "" "Netherlands" "" "0" "" "" "white" "" "00153284" "" "" "" "1" "" "02376" "" "" "M" "" "Netherlands" "" "0" "" "" "white" "" "00153285" "" "" "" "1" "" "02376" "" "" "F" "" "Netherlands" "" "0" "" "" "white" "" "00153286" "" "" "" "1" "" "02376" "" "" "M" "" "Netherlands" "" "0" "" "" "white" "" "00153287" "" "" "" "1" "" "02376" "" "" "F" "" "Netherlands" "" "0" "" "" "white" "" "00207573" "" "" "" "1" "" "03114" "" "" "M" "" "China" "02y" "0" "yes" "carbamazepine" "White" "" "00207574" "" "" "" "2" "" "03114" "" "" "M" "?" "China" "00y04m" "0" "yes" "" "White" "" "00207717" "" "" "" "1" "" "03114" "" "" "F" "" "China" "00y04m" "0" "" "" "" "" "00208756" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00210175" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00245895" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00248141" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00266171" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00289296" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00291439" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295476" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296384" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296548" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296666" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00307811" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410887" "00320243" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "172237" "00331292" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "175351" "00374818" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1403" "00387700" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents once removed" "" "yes" "" "" "0" "" "" "Kurd" "M003" "00390025" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "3" "00408693" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "no" "France" "" "0" "" "" "" "Pat37" "00414251" "" "" "" "1" "" "01164" "" "" "M" "-" "Germany" "" "0" "" "" "" "202498" "00462180" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 51 "{{individualid}}" "{{diseaseid}}" "00036582" "00198" "00036583" "00198" "00036584" "00198" "00050370" "00198" "00050653" "00198" "00050683" "00198" "00107914" "00198" "00107915" "00198" "00107916" "00198" "00107917" "00198" "00107918" "00198" "00107919" "00198" "00107920" "00198" "00107921" "01295" "00107922" "01295" "00107923" "01295" "00107924" "01295" "00107925" "01295" "00107926" "04629" "00107927" "04630" "00151965" "04630" "00153034" "04630" "00153062" "00198" "00153085" "00198" "00153086" "04630" "00153280" "04629" "00153281" "00198" "00153283" "04629" "00153284" "00198" "00153285" "04630" "00153286" "00198" "00153287" "00198" "00207573" "04629" "00207574" "04629" "00207717" "04629" "00289296" "00198" "00291439" "00198" "00295476" "00198" "00296384" "00198" "00296548" "00198" "00296666" "00198" "00307811" "00139" "00307811" "00198" "00320243" "04630" "00331292" "04629" "00374818" "00198" "00387700" "00139" "00390025" "04214" "00408693" "00198" "00414251" "01295" "00462180" "05521" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01295, 04214, 04629, 04630, 05521 ## Count = 43 "{{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}}" "0000036982" "00198" "00050370" "00006" "Unknown" "" "cleft palate, micrognathia, upslanted palpebral fissure, obesity, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000037265" "00198" "00050653" "00006" "Isolated (sporadic)" "" "global developmental delay, specific learning disability, constipation, hypoplasia of dental enamel" "" "" "" "" "" "" "" "" "" "" "" "0000037295" "00198" "00050683" "00006" "Unknown" "" "microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development" "" "" "" "" "" "" "" "" "" "" "" "0000085668" "01295" "00107921" "00233" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085669" "01295" "00107922" "00233" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085670" "01295" "00107923" "00233" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085671" "01295" "00107924" "00233" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085672" "01295" "00107925" "00233" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085673" "04629" "00107926" "00233" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124329" "04630" "00151965" "02376" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000125778" "04630" "00153034" "02376" "Unknown" "" "" "00y05m" "" "" "" "" "" "" "" "" "" "" "0000125795" "00198" "00153062" "02376" "Unknown" "" "unclassified epilepsy, paroxysmal kinesigenic dyskinesia" "" "" "" "" "" "" "" "" "" "" "" "0000125796" "00198" "00153085" "02376" "Unknown" "" "" "" "" "" "" "" "" "" "" "Paroxysmal Kinesigenic Dyskinesia" "" "" "0000125958" "04629" "00153280" "02376" "Unknown" "" "" "" "" "" "" "" "" "" "" "Migraine with aura" "" "" "0000125959" "04630" "00153086" "02376" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hemiplegic migraine" "" "" "0000125960" "00198" "00153281" "02376" "Unknown" "" "" "" "" "" "" "" "" "" "" "Paroxysmal Kinesigenic Dyskinesia" "" "" "0000125963" "04629" "00153283" "02376" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hemiplegic migraine" "" "" "0000125964" "00198" "00153284" "02376" "Unknown" "" "" "" "" "" "" "" "" "" "" "Paroxysmal Kinesigenic Dyskinesia" "" "" "0000125966" "04630" "00153285" "02376" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hemiplegic migraine" "" "" "0000125967" "00198" "00153286" "02376" "Unknown" "" "" "" "" "" "" "" "" "" "" "Paroxysmal Kinesigenic Dyskinesia" "" "" "0000125968" "00198" "00153287" "02376" "Unknown" "" "" "" "" "" "" "" "" "" "" "Paroxysmal Kinesigenic Dyskinesia" "" "" "0000155348" "04629" "00207573" "03114" "Familial, autosomal recessive" "02y" "HP:0001332, HP:0002305, HP:0001250, HP:0002076, HP:0002356, HP:0100660, HP:0002072, HP:0004305, HP:0011157" "02y" "02y" "" "" "" "" "" "" "ICCA" "ICCA" "" "0000155350" "04629" "00207574" "03114" "Familial, autosomal recessive" "01y" "HP:0001332\r\nHP:0002305\r\nHP:0001250\r\nHP:0002356\r\nHP:0100660\r\nHP:0002072\r\nHP:0004305\r\nHP:0011157\r\nHP:0002076" "00y03m" "" "" "" "" "" "" "" "ICCA" "" "" "0000156583" "00198" "00036582" "01164" "Familial" "" "familial hemiplegic migraine" "" "" "" "" "" "" "" "" "" "hemiplegic migraine" "" "0000156584" "00198" "00036583" "01164" "Familial" "" "familial hemiplegic migraine" "" "" "" "" "" "" "" "" "" "hemiplegic migraine" "" "0000156585" "00198" "00036584" "01164" "Unknown" "" "benign early childhood partial epilepsy Watanabe" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000157374" "00198" "00208756" "01164" "Unknown" "" "HP:0002069 (Generalized tonic-clonic seizures); HP:0002121 (Absence seizures)" "" "" "" "" "" "" "" "" "" "" "" "0000158747" "00198" "00210175" "01164" "Unknown" "" "HP:0012638 (Abnormality of nervous system physiology); HP:0001250 (Seizures)" "" "" "" "" "" "" "" "" "" "" "" "0000185731" "00198" "00245895" "01164" "Unknown" "" "HP:0012638 (Abnormality of nervous system physiology); HP:0002197 (Generalized seizures)" "" "" "" "" "" "" "" "" "" "" "" "0000187143" "00198" "00248141" "01164" "Unknown" "" "HP:0002069 (Generalized tonic-clonic seizures); HP:0012638 (Abnormality of nervous system physiology)" "" "" "" "" "" "" "" "" "" "" "" "0000203947" "00198" "00266171" "01164" "Unknown" "" "Paroxysmal dyskinesia (HP:0007166)" "" "" "" "" "" "" "" "" "" "" "" "0000222927" "00198" "00289296" "01164" "Unknown" "" "Seizures (HP:0001250); Abnormality of nervous system physiology (HP:0012638); Macrocephaly (HP:0000256); Abnormality of the skull (HP:0000929)" "" "" "" "" "" "" "" "" "" "" "" "0000223798" "00198" "00296384" "01164" "Unknown" "" "Generalized seizures (HP:0002197)" "" "" "" "" "" "" "" "" "" "" "" "0000223954" "00198" "00296548" "01164" "Unknown" "" "Choreoathetosis (HP:0001266); Involuntary movements (HP:0004305)" "" "" "" "" "" "" "" "" "" "" "" "0000224067" "00198" "00296666" "01164" "Unknown" "" "Infantile spasms (HP:0012469); Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "0000242294" "04630" "00320243" "01164" "Unknown" "" "benign infantile convulsions, with 4 months series of epileptic seizures, child normally developed, interectal EEG normal, family history: mother as an infant also seizures, as an adult isolated seizures" "" "" "" "" "" "" "" "" "" "4 month" "" "0000249495" "04629" "00331292" "01164" "Unknown" "07y" "(+) Paroxysmal dyskinesia,(+) Dyskinesia" "" "" "" "" "" "" "" "" "" "" "" "0000270028" "00198" "00374818" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000281268" "00139" "00387700" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly, epilepsy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000283565" "04214" "00390025" "00000" "Unknown" "11m" "Pale and tilted optic disk associated to hypoplasia, tortuous retinal vessels, non-homogeneous macula" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" "0000300811" "00198" "00408693" "00006" "Unknown" "" "" "15y" "" "" "" "" "" "" "" "DYT10" "movement disorder" "" "0000306096" "01295" "00414251" "01164" "Unknown" "" "Dystonia" "" "" "" "" "" "" "" "" "" "" "" "0000349680" "05521" "00462180" "03544" "Isolated (sporadic)" "" "HP:0001250" "" "" "" "" "" "" "" "" "PKD, BFIS2" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 55 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036652" "00036582" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036653" "00036583" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036654" "00036584" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050315" "00050370" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050598" "00050653" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050628" "00050683" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000108383" "00107914" "1" "00233" "00233" "2012-08-09 16:17:11" "" "" "SEQ" "DNA" "" "" "0000108384" "00107915" "1" "00233" "00233" "2012-08-09 16:17:11" "" "" "SEQ" "DNA" "" "" "0000108385" "00107916" "1" "00233" "00233" "2012-08-09 16:17:11" "" "" "SEQ" "DNA" "" "" "0000108386" "00107917" "1" "00233" "00233" "2012-08-09 16:17:11" "" "" "SEQ" "DNA" "" "" "0000108387" "00107918" "1" "00233" "00233" "2012-08-09 16:17:11" "" "" "SEQ" "DNA" "" "" "0000108388" "00107919" "1" "00233" "00233" "2012-08-09 16:17:11" "" "" "SEQ" "DNA" "" "" "0000108389" "00107920" "1" "00233" "00233" "2012-08-09 16:17:11" "" "" "SEQ" "DNA" "" "" "0000108390" "00107921" "1" "00233" "00233" "2012-08-09 16:17:11" "" "" "SEQ" "DNA" "" "" "0000108391" "00107922" "1" "00233" "00233" "2012-08-09 16:17:11" "" "" "SEQ" "DNA" "" "" "0000108392" "00107923" "1" "00233" "00233" "2012-08-09 16:17:11" "" "" "SEQ" "DNA" "" "" "0000108393" "00107924" "1" "00233" "00233" "2012-08-09 16:17:11" "" "" "SEQ" "DNA" "" "" "0000108394" "00107925" "1" "00233" "00233" "2012-08-09 16:17:11" "" "" "SEQ" "DNA" "" "" "0000108395" "00107926" "1" "00233" "00233" "2012-08-09 16:17:11" "" "" "SEQ" "DNA" "" "" "0000108396" "00107927" "1" "02078" "02078" "2012-05-07 14:55:56" "" "" "SEQ" "DNA" "" "" "0000152822" "00151965" "1" "02376" "02376" "2018-01-29 09:18:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000153924" "00153034" "1" "02376" "02376" "2018-02-11 15:41:45" "00006" "2018-02-12 21:04:13" "SEQ" "DNA" "" "" "0000153947" "00153062" "1" "02376" "02376" "2018-02-11 16:05:48" "" "" "SEQ-NG" "DNA" "" "" "0000153948" "00153085" "1" "02376" "02376" "2018-02-11 16:11:09" "00006" "2018-02-12 21:17:54" "SEQ" "DNA" "" "" "0000153949" "00153086" "1" "02376" "02376" "2018-02-11 16:17:20" "00006" "2018-02-12 21:17:54" "SEQ" "DNA" "" "" "0000154143" "00153280" "1" "02376" "02376" "2018-02-11 16:26:16" "00006" "2018-02-12 21:17:54" "SEQ" "DNA" "" "" "0000154144" "00153281" "1" "02376" "02376" "2018-02-11 16:34:59" "00006" "2018-02-12 21:17:54" "SEQ" "DNA" "" "" "0000154146" "00153283" "1" "02376" "02376" "2018-02-11 16:39:03" "00006" "2018-02-12 21:17:54" "SEQ" "DNA" "" "" "0000154147" "00153284" "1" "02376" "02376" "2018-02-11 16:45:40" "00006" "2018-02-12 21:17:54" "SEQ" "DNA" "" "" "0000154148" "00153285" "1" "02376" "02376" "2018-02-11 16:50:53" "00006" "2018-02-12 21:17:54" "SEQ" "DNA" "" "" "0000154149" "00153286" "1" "02376" "02376" "2018-02-11 16:56:18" "00006" "2018-02-12 21:17:54" "SEQ" "DNA" "" "" "0000154150" "00153287" "1" "02376" "02376" "2018-02-11 16:58:35" "00006" "2018-02-12 21:17:54" "SEQ" "DNA" "" "" "0000208612" "00207573" "1" "03114" "03114" "2018-11-24 04:57:26" "" "" "PCR" "DNA" "" "" "0000208613" "00207574" "1" "03114" "03114" "2018-11-24 15:12:53" "" "" "SEQ" "DNA" "" "" "0000208758" "00207717" "1" "03114" "03114" "2018-11-30 11:54:34" "" "" "SEQ" "DNA" "" "" "0000209805" "00208756" "1" "01164" "01164" "2018-12-14 14:03:32" "" "" "SEQ-NG" "DNA" "" "" "0000211251" "00210175" "1" "01164" "01164" "2018-12-27 15:47:30" "" "" "SEQ-NG" "DNA" "" "" "0000247007" "00245895" "1" "01164" "01164" "2019-07-11 09:52:38" "" "" "SEQ-NG-S" "DNA" "" "" "0000249246" "00248141" "1" "01164" "01164" "2019-07-19 11:43:13" "" "" "SEQ-NG-S" "DNA" "" "" "0000267292" "00266171" "1" "01164" "01164" "2019-10-15 11:11:34" "" "" "SEQ-NG-S" "DNA" "" "" "0000290466" "00289296" "1" "01164" "01164" "2020-03-02 12:27:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000292607" "00291439" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296644" "00295476" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297495" "00296384" "1" "01164" "01164" "2020-04-06 09:47:47" "" "" "SEQ-NG-S" "DNA" "" "" "0000297657" "00296548" "1" "01164" "01164" "2020-04-08 09:57:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000297776" "00296666" "1" "01164" "01164" "2020-04-10 08:43:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000308951" "00307811" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000321429" "00320243" "1" "01164" "01164" "2020-11-25 09:44:10" "" "" "SEQ-NG-I" "DNA" "" "" "0000332521" "00331292" "1" "01164" "01164" "2021-02-11 11:34:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000376012" "00374818" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000388931" "00387700" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000391266" "00390025" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000409955" "00408693" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ" "DNA" "" "clincal WES" "0000415531" "00414251" "1" "01164" "01164" "2022-07-28 11:13:30" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000463812" "00462180" "1" "03544" "03544" "2025-02-01 08:57:30" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{geneid}}" "0000036652" "PRRT2" "0000036653" "PRRT2" "0000036654" "PRRT2" "0000108383" "PRRT2" "0000108384" "PRRT2" "0000108385" "PRRT2" "0000108386" "PRRT2" "0000108387" "PRRT2" "0000108388" "PRRT2" "0000108389" "PRRT2" "0000108390" "PRRT2" "0000108391" "PRRT2" "0000108392" "PRRT2" "0000108393" "PRRT2" "0000108394" "PRRT2" "0000108395" "PRRT2" "0000108396" "PRRT2" "0000152822" "KCNQ2" "0000152822" "KCNQ3" "0000152822" "PRRT2" "0000152822" "SCN2A" "0000152822" "TBC1D24" "0000153924" "PRRT2" "0000153947" "PRRT2" "0000153948" "PRRT2" "0000208612" "PRRT2" "0000208613" "PRRT2" "0000208758" "PRRT2" "0000308951" "PRRT2" "0000321429" "PRRT2" "0000332521" "PRRT2" "0000376012" "PRRT2" "0000388931" "PRRT2" "0000391266" "CLN3" "0000415531" "PRRT2" ## 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 = 146 "{{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}}" "0000063777" "1" "10" "16" "29822676" "29822676" "subst" "0" "01164" "PRRT2_000023" "g.29822676T>C" "" "" "" "" "also found in wild type; c.-368T>C" "Germline" "" "rs8054524" "0" "" "" "g.29811355T>C" "" "benign" "" "0000063778" "1" "10" "16" "29825126" "29825126" "subst" "0.998372" "01164" "PRRT2_000021" "g.29825126T>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs11150573" "0" "" "" "g.29813805T>C" "" "benign" "" "0000063779" "1" "90" "16" "29825024" "29825024" "dup" "0" "01164" "PRRT2_000022" "g.29825024dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.29813703dup" "" "pathogenic" "" "0000079295" "21" "90" "16" "29606538" "30215625" "del" "0" "00006" "FAM57B_000002" "g.29606538_30215625del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "Germline" "" "" "0" "" "" "g.29595217_30204304del" "" "pathogenic" "" "0000079578" "21" "90" "16" "29592782" "30257228" "dup" "0" "00006" "FAM57B_000004" "g.29592782_30257228dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "g.29581461_30245907dup" "" "pathogenic" "" "0000079608" "0" "90" "16" "27183151" "31888684" "dup" "0" "00006" "CLN3_000010" "g.27183151_31888684dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.33 cells" "Somatic" "" "" "0" "" "" "g.27171830_31877363dup" "" "pathogenic" "" "0000174309" "0" "13" "16" "29824787" "29824787" "subst" "0.0182193" "00233" "PRRT2_000005" "g.29824787C>G" "" "{PMID:Chen 2011:22101681}" "" "" "submitted through SIB; {EXP:067010}" "Germline" "" "rs79182085" "0" "" "" "g.29813466C>G" "" "benign" "" "0000174310" "0" "13" "16" "29824814" "29824814" "subst" "0.000916303" "00233" "PRRT2_000006" "g.29824814G>C" "" "{PMID:Chen 2011:22101681}" "" "" "submitted through SIB; {EXP:067011}" "Germline" "" "rs79568162" "0" "" "" "g.29813493G>C" "" "benign" "" "0000174311" "0" "15" "16" "29825015" "29825015" "subst" "0.00148845" "00233" "PRRT2_000007" "g.29825015G>C" "" "{PMID:Chen 2011:22101681}" "" "" "submitted through SIB; {EXP:067012}" "Germline" "" "" "0" "" "" "g.29813694G>C" "" "benign" "" "0000174312" "0" "13" "16" "29825019" "29825019" "subst" "0.000811506" "00233" "PRRT2_000010" "g.29825019C>G" "" "{PMID:Heron 2012:22243967}" "" "" "submitted through SIB; {EXP:067320}" "Germline" "" "rs200926711" "0" "" "" "g.29813698C>G" "" "benign" "" "0000174313" "0" "13" "16" "29825022" "29825022" "subst" "0.00689768" "00233" "PRRT2_000011" "g.29825022C>T" "" "{PMID:Heron 2012:22243967}" "" "" "submitted through SIB; {EXP:067321}" "Germline" "" "rs76335820" "0" "" "" "g.29813701C>T" "" "benign" "" "0000174314" "0" "13" "16" "29825084" "29825084" "subst" "0.000189061" "00233" "PRRT2_000008" "g.29825084G>A" "" "{PMID:Chen 2011:22101681}" "" "" "submitted through SIB; {EXP:067013}" "Germline" "" "rs199556853" "0" "" "" "g.29813763G>A" "" "benign" "" "0000174315" "0" "10" "16" "29825109" "29825109" "subst" "5.86422E-5" "00233" "PRRT2_000009" "g.29825109G>A" "" "{PMID:Chen 2011:22101681}" "" "" "submitted through SIB; {EXP:067014}" "Germline" "" "" "0" "" "" "g.29813788G>A" "" "benign" "" "0000174316" "0" "90" "16" "29825171" "29825171" "subst" "4.06683E-6" "00233" "PRRT2_000014" "g.29825171C>T" "" "{PMID:Brain. 2011:22120146}" "" "" "submitted through SIB; {EXP:067322}" "Germline" "" "" "0" "" "" "g.29813850C>T" "" "pathogenic" "" "0000174317" "0" "90" "16" "29825216" "29825216" "subst" "0" "00233" "PRRT2_000015" "g.29825216T>C" "" "{PMID:Li 2012:22131361}" "" "" "submitted through SIB; {EXP:067323}" "Germline" "" "" "0" "" "" "g.29813895T>C" "" "pathogenic" "" "0000174318" "0" "90" "16" "29825234" "29825234" "subst" "0" "00233" "PRRT2_000016" "g.29825234G>A" "" "{PMID:Li 2012:22131361}" "" "" "submitted through SIB; {EXP:067324}" "Germline" "" "" "0" "" "" "g.29813913G>A" "" "pathogenic" "" "0000174319" "0" "70" "16" "29825687" "29825687" "subst" "4.14917E-6" "00233" "PRRT2_000013" "g.29825687G>A" "" "{PMID:Li 2012:22131361}" "" "" "submitted through SIB; {EXP:067325}" "Germline" "" "" "0" "" "" "g.29814366G>A" "" "likely pathogenic" "" "0000174320" "0" "90" "16" "29825696" "29825696" "subst" "0" "00233" "PRRT2_000017" "g.29825696C>T" "" "{PMID:Li 2012:22131361}" "" "" "submitted through SIB; {EXP:067326}" "Germline" "" "" "0" "" "" "g.29814375C>T" "" "pathogenic" "" "0000174321" "0" "90" "16" "29825724" "29825724" "subst" "0" "00233" "PRRT2_000012" "g.29825724G>A" "" "{PMID:Schubert 2012:22623405}" "" "" "submitted through SIB; {EXP:067327}" "Germline" "" "" "0" "" "" "g.29814403G>A" "" "pathogenic" "" "0000174322" "0" "50" "16" "29824666" "29824666" "del" "0" "02078" "PRRT2_000004" "g.29824666del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.29813345del" "" "VUS" "" "0000174323" "0" "50" "16" "29825004" "29825004" "del" "0" "02078" "PRRT2_000002" "g.29825004del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.29813683del" "" "VUS" "" "0000174324" "0" "50" "16" "29825024" "29825024" "dup" "0" "02078" "PRRT2_000001" "g.29825024dup" "" "" "" "649dupC" "" "Germline" "" "" "0" "" "" "g.29813703dup" "" "VUS" "" "0000174325" "0" "50" "16" "29825742" "29825742" "subst" "0" "02078" "PRRT2_000003" "g.29825742G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.29814421G>A" "" "VUS" "" "0000249621" "0" "90" "16" "29825004" "29825004" "dup" "0" "02325" "PRRT2_000030" "g.29825004dup" "" "" "" "PRRT2(NM_001256443.2):c.629dupC (p.A211Sfs*14), PRRT2(NM_001256443.2):c.630delAinsCA (p.A211Sfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813683dup" "" "pathogenic" "" "0000297390" "0" "30" "16" "29824360" "29824360" "subst" "1.3765E-5" "02325" "PRRT2_000024" "g.29824360C>T" "" "" "" "PRRT2(NM_001256443.2):c.-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813039C>T" "" "likely benign" "" "0000297392" "0" "30" "16" "29825022" "29825022" "subst" "0.00689768" "02325" "PRRT2_000011" "g.29825022C>T" "" "" "" "PRRT2(NM_001256442.1):c.647C>T (p.(Pro216Leu)), PRRT2(NM_001256443.2):c.647C>T (p.P216L), PRRT2(NM_145239.2):c.647C>T (p.P216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813701C>T" "" "likely benign" "" "0000297393" "0" "90" "16" "29825024" "29825024" "del" "0" "02325" "PRRT2_000032" "g.29825024del" "" "" "" "PRRT2(NM_001256443.2):c.649delC (p.R217Efs*12), PRRT2(NM_145239.2):c.649delC (p.R217Efs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813703del" "" "pathogenic" "" "0000297395" "0" "90" "16" "29825024" "29825024" "dup" "0" "02325" "PRRT2_000022" "g.29825024dup" "" "" "" "PRRT2(NM_001256442.1):c.649dup (p.(Arg217Profs*8)), PRRT2(NM_001256443.1):c.649dupC (p.R217Pfs*8), PRRT2(NM_001256443.2):c.649dupC (p.R217Pfs*8), P..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813703dup" "" "pathogenic" "" "0000297396" "0" "30" "16" "29824442" "29824442" "subst" "0.00108206" "02325" "PRRT2_000025" "g.29824442G>A" "" "" "" "PRRT2(NM_001256443.1):c.67G>A (p.E23K), PRRT2(NM_001256443.2):c.67G>A (p.E23K), PRRT2(NM_145239.2):c.67G>A (p.E23K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813121G>A" "" "likely benign" "" "0000297397" "0" "10" "16" "29825126" "29825126" "subst" "0.998372" "02325" "PRRT2_000021" "g.29825126T>C" "" "" "" "PRRT2(NM_001256443.2):c.751T>C (p.L251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813805T>C" "" "benign" "" "0000297398" "0" "30" "16" "29825242" "29825242" "subst" "0" "02325" "PRRT2_000037" "g.29825242T>A" "" "" "" "PRRT2(NM_001256443.2):c.867T>A (p.A289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813921T>A" "" "likely benign" "" "0000301236" "0" "30" "16" "29824600" "29824600" "subst" "0.000110089" "02326" "PRRT2_000026" "g.29824600G>A" "" "" "" "PRRT2(NM_001256443.1):c.225G>A (p.P75=), PRRT2(NM_145239.2):c.225G>A (p.P75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813279G>A" "" "likely benign" "" "0000301237" "0" "30" "16" "29824602" "29824602" "subst" "0" "02326" "PRRT2_000027" "g.29824602C>T" "" "" "" "PRRT2(NM_145239.2):c.227C>T (p.A76V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813281C>T" "" "likely benign" "" "0000301238" "0" "10" "16" "29824787" "29824787" "subst" "0.0182193" "02326" "PRRT2_000005" "g.29824787C>G" "" "" "" "PRRT2(NM_145239.2):c.412C>G (p.P138A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813466C>G" "" "benign" "" "0000301239" "0" "30" "16" "29824835" "29824835" "subst" "0.000236116" "02326" "PRRT2_000028" "g.29824835C>T" "" "" "" "PRRT2(NM_145239.2):c.460C>T (p.P154S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813514C>T" "" "likely benign" "" "0000301240" "0" "30" "16" "29825022" "29825022" "subst" "0.000501054" "02326" "PRRT2_000033" "g.29825022C>A" "" "" "" "PRRT2(NM_145239.2):c.647C>A (p.P216H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813701C>A" "" "likely benign" "" "0000301241" "0" "30" "16" "29825022" "29825022" "subst" "0.000140482" "02326" "PRRT2_000034" "g.29825022C>G" "" "" "" "PRRT2(NM_001256443.2):c.647C>G (p.P216R), PRRT2(NM_145239.2):c.647C>G (p.P216R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813701C>G" "" "likely benign" "" "0000301242" "0" "30" "16" "29825022" "29825022" "subst" "0.00689768" "02326" "PRRT2_000011" "g.29825022C>T" "" "" "" "PRRT2(NM_001256442.1):c.647C>T (p.(Pro216Leu)), PRRT2(NM_001256443.2):c.647C>T (p.P216L), PRRT2(NM_145239.2):c.647C>T (p.P216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813701C>T" "" "likely benign" "" "0000301243" "0" "90" "16" "29825024" "29825024" "subst" "0" "02326" "PRRT2_000035" "g.29825024C>T" "" "" "" "PRRT2(NM_145239.2):c.649C>T (p.R217*), PRRT2(NM_145239.3):c.649C>T (p.R217*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813703C>T" "" "pathogenic" "" "0000301244" "0" "70" "16" "29825745" "29825745" "subst" "0" "02326" "PRRT2_000038" "g.29825745G>A" "" "" "" "PRRT2(NM_145239.2):c.971G>A (p.G324E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29814424G>A" "" "likely pathogenic" "" "0000306500" "0" "50" "16" "29824959" "29824959" "subst" "8.22112E-6" "01943" "PRRT2_000029" "g.29824959G>A" "" "" "" "PRRT2(NM_001256443.1):c.584G>A (p.G195D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813638G>A" "" "VUS" "" "0000306501" "0" "90" "16" "29825024" "29825024" "del" "0" "01943" "PRRT2_000036" "g.29825024del" "" "" "" "PRRT2(NM_001256443.2):c.649delC (p.R217Efs*12), PRRT2(NM_145239.2):c.649delC (p.R217Efs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813703del" "" "pathogenic" "" "0000306502" "0" "90" "16" "29825024" "29825024" "dup" "0" "01943" "PRRT2_000022" "g.29825024dup" "" "" "" "PRRT2(NM_001256442.1):c.649dup (p.(Arg217Profs*8)), PRRT2(NM_001256443.1):c.649dupC (p.R217Pfs*8), PRRT2(NM_001256443.2):c.649dupC (p.R217Pfs*8), P..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813703dup" "" "pathogenic" "" "0000324695" "0" "50" "16" "29818533" "29818538" "del" "0" "01804" "MAZ_000004" "g.29818533_29818538del" "" "" "" "MAZ(NM_001042539.1):c.424_429del (p.(Ala144_Ala145del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29807212_29807217del" "" "VUS" "" "0000336836" "0" "10" "16" "29826365" "29826365" "subst" "0" "02327" "PRRT2_000043" "g.29826365G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29815044G>T" "" "benign" "" "0000337661" "0" "10" "16" "29826014" "29826014" "subst" "0" "02327" "PRRT2_000042" "g.29826014C>A" "" "" "" "PRRT2(NM_145239.2):c.*55C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29814693C>A" "" "benign" "" "0000345899" "0" "30" "16" "29825084" "29825084" "subst" "0.000189061" "02327" "PRRT2_000008" "g.29825084G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813763G>A" "" "likely benign" "" "0000345973" "0" "50" "16" "29825687" "29825687" "subst" "4.14917E-6" "02327" "PRRT2_000013" "g.29825687G>A" "" "" "" "PRRT2(NM_145239.2):c.913G>A (p.(Gly305Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29814366G>A" "" "VUS" "" "0000348281" "0" "30" "16" "29825019" "29825019" "subst" "0.000811506" "02327" "PRRT2_000010" "g.29825019C>G" "" "" "" "PRRT2(NM_001256443.1):c.644C>G (p.P215R), PRRT2(NM_145239.2):c.644C>G (p.P215R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813698C>G" "" "likely benign" "" "0000348282" "0" "50" "16" "29825022" "29825022" "subst" "0.000501054" "02327" "PRRT2_000033" "g.29825022C>A" "" "" "" "PRRT2(NM_145239.2):c.647C>A (p.P216H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813701C>A" "" "VUS" "" "0000348283" "0" "30" "16" "29825022" "29825022" "subst" "0.00689768" "02327" "PRRT2_000011" "g.29825022C>T" "" "" "" "PRRT2(NM_001256442.1):c.647C>T (p.(Pro216Leu)), PRRT2(NM_001256443.2):c.647C>T (p.P216L), PRRT2(NM_145239.2):c.647C>T (p.P216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29813701C>T" "" "likely benign" "" "0000351657" "0" "90" "16" "29825004" "29825004" "dup" "0" "02376" "PRRT2_000030" "g.29825004dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813683dup" "" "pathogenic" "" "0000353207" "0" "90" "16" "29825024" "29825024" "dup" "0" "02376" "PRRT2_000001" "g.29825024dup" "" "" "" "649dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic" "" "0000353268" "0" "90" "16" "29825024" "29825024" "dup" "0" "02376" "PRRT2_000001" "g.29825024dup" "" "" "" "649dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic" "" "0000353269" "0" "90" "16" "29825024" "29825024" "dup" "0" "02376" "PRRT2_000001" "g.29825024dup" "" "" "" "649dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic" "" "0000353270" "0" "90" "16" "29825024" "29825024" "dup" "0" "02376" "PRRT2_000001" "g.29825024dup" "" "" "" "649dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic" "" "0000353605" "0" "90" "16" "29825024" "29825024" "dup" "0" "02376" "PRRT2_000001" "g.29825024dup" "" "" "" "649dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic" "" "0000353606" "0" "90" "16" "29825199" "29825199" "subst" "0" "02376" "PRRT2_000044" "g.29825199C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813878C>T" "" "pathogenic" "" "0000353608" "0" "90" "16" "29825024" "29825024" "dup" "0" "02376" "PRRT2_000001" "g.29825024dup" "" "" "" "649dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic" "" "0000353610" "0" "90" "16" "29825024" "29825024" "dup" "0" "02376" "PRRT2_000001" "g.29825024dup" "" "" "" "649dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic" "" "0000353611" "0" "90" "16" "29825024" "29825024" "dup" "0" "02376" "PRRT2_000001" "g.29825024dup" "" "" "" "649dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic" "" "0000353613" "0" "90" "16" "29825024" "29825024" "dup" "0" "02376" "PRRT2_000001" "g.29825024dup" "" "" "" "649dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic" "" "0000353614" "0" "90" "16" "29825024" "29825024" "dup" "0" "02376" "PRRT2_000001" "g.29825024dup" "" "" "" "649dupC" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.29813703dup" "" "pathogenic" "" "0000438523" "0" "30" "16" "29825084" "29825084" "subst" "0.000189061" "03114" "PRRT2_000008" "g.29825084G>A" "1/13" "" "" "" "" "Germline" "?" "rs199556853" "0" "" "" "g.29813763G>A" "" "likely benign" "" "0000438524" "21" "70" "16" "29824787" "29824787" "subst" "0.0182193" "03114" "PRRT2_000005" "g.29824787C>G" "2/13" "" "" "" "" "Germline" "" "rs79182085" "0" "" "" "g.29813466C>G" "" "likely pathogenic" "" "0000438525" "11" "30" "16" "29825061" "29825061" "subst" "0" "03114" "PRRT2_000045" "g.29825061G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.29813740G>A" "" "likely benign" "" "0000438526" "21" "90" "16" "29825025" "29825045" "del" "0" "03114" "PRRT2_000048" "g.29825025_29825045delinsCAATGGTGCCACCACTGGGTTAA" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.29813704_29813724delinsCAATGGTGCCACCACTGGGTTAA" "" "pathogenic" "" "0000438527" "21" "90" "16" "29825025" "29825045" "del" "0" "03114" "PRRT2_000048" "g.29825025_29825045delinsCAATGGTGCCACCACTGGGTTAA" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.29813704_29813724delinsCAATGGTGCCACCACTGGGTTAA" "" "pathogenic" "" "0000438714" "0" "50" "16" "29825118" "29825118" "subst" "4.11712E-6" "03114" "PRRT2_000046" "g.29825118G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.29813797G>C" "" "VUS" "" "0000440024" "0" "90" "16" "29824968" "29824969" "del" "0" "01164" "PRRT2_000049" "g.29824968_29824969del" "" "" "" "" "ACMG grading: PVS1,PM2,PP1" "Germline" "" "" "0" "" "" "g.29813647_29813648del" "" "pathogenic" "ACMG" "0000442718" "0" "90" "16" "29824889" "29824892" "del" "0" "01164" "PRRT2_000050" "g.29824889_29824892del" "" "" "" "" "ACMG grading: PP1,PP5,PVS1,PM2; reported in Chen 2011. Nat Genet 43: 1252 Yang 2013. BMC Neurol 13: 209; Yang 2014. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 31: 679" "Germline" "" "rs730882065" "0" "" "" "g.29813568_29813571del" "" "pathogenic" "ACMG" "0000499848" "0" "90" "16" "29825024" "29825024" "dup" "0" "01164" "PRRT2_000001" "g.29825024dup" "" "" "" "" "ACMG grading: PVS1,PP5,PP1,PS3" "Germline" "" "rs772994486" "0" "" "" "g.29813703dup" "" "pathogenic" "ACMG" "0000557804" "0" "30" "16" "29818615" "29818615" "subst" "0" "01804" "PRRT2_000051" "g.29818615C>T" "" "" "" "MAZ(NM_001042539.1):c.509C>T (p.(Thr170Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29807294C>T" "" "likely benign" "" "0000557807" "0" "30" "16" "29821438" "29821452" "del" "0" "01804" "PRRT2_000054" "g.29821438_29821452del" "" "" "" "MAZ(NM_001042539.1):c.*46_*60del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29810117_29810131del" "" "likely benign" "" "0000557808" "0" "30" "16" "29824442" "29824442" "subst" "0.00108206" "01943" "PRRT2_000025" "g.29824442G>A" "" "" "" "PRRT2(NM_001256443.1):c.67G>A (p.E23K), PRRT2(NM_001256443.2):c.67G>A (p.E23K), PRRT2(NM_145239.2):c.67G>A (p.E23K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29813121G>A" "" "likely benign" "" "0000557809" "0" "30" "16" "29824442" "29824442" "subst" "0.00108206" "02326" "PRRT2_000025" "g.29824442G>A" "" "" "" "PRRT2(NM_001256443.1):c.67G>A (p.E23K), PRRT2(NM_001256443.2):c.67G>A (p.E23K), PRRT2(NM_145239.2):c.67G>A (p.E23K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29813121G>A" "" "likely benign" "" "0000557810" "0" "90" "16" "29824523" "29824524" "ins" "0" "02327" "MVP_000003" "g.29824523_29824524insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29813202_29813203insT" "" "pathogenic" "" "0000557811" "0" "30" "16" "29824814" "29824814" "subst" "0.000916303" "01804" "PRRT2_000006" "g.29824814G>C" "" "" "" "PRRT2(NM_001256442.1):c.439G>C (p.(Asp147His)), PRRT2(NM_145239.2):c.439G>C (p.D147H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29813493G>C" "" "likely benign" "" "0000557812" "0" "30" "16" "29824939" "29824939" "subst" "0.000902216" "02326" "MVP_000004" "g.29824939G>A" "" "" "" "PRRT2(NM_001256442.1):c.564G>A (p.(Gln188=)), PRRT2(NM_001256443.1):c.564G>A (p.Q188=), PRRT2(NM_145239.2):c.564G>A (p.Q188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29813618G>A" "" "likely benign" "" "0000557813" "0" "50" "16" "29824940" "29824940" "subst" "0" "02327" "MVP_000005" "g.29824940G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29813619G>A" "" "VUS" "" "0000557814" "0" "30" "16" "29825019" "29825019" "subst" "0.000811506" "01943" "PRRT2_000010" "g.29825019C>G" "" "" "" "PRRT2(NM_001256443.1):c.644C>G (p.P215R), PRRT2(NM_145239.2):c.644C>G (p.P215R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29813698C>G" "" "likely benign" "" "0000557815" "0" "50" "16" "29825022" "29825022" "subst" "0.000140482" "02325" "PRRT2_000034" "g.29825022C>G" "" "" "" "PRRT2(NM_001256443.2):c.647C>G (p.P216R), PRRT2(NM_145239.2):c.647C>G (p.P216R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29813701C>G" "" "VUS" "" "0000557816" "0" "30" "16" "29825022" "29825022" "subst" "0.00689768" "01804" "PRRT2_000011" "g.29825022C>T" "" "" "" "PRRT2(NM_001256442.1):c.647C>T (p.(Pro216Leu)), PRRT2(NM_001256443.2):c.647C>T (p.P216L), PRRT2(NM_145239.2):c.647C>T (p.P216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29813701C>T" "" "likely benign" "" "0000557817" "0" "90" "16" "29825024" "29825024" "del" "0" "02326" "PRRT2_000032" "g.29825024del" "" "" "" "PRRT2(NM_001256443.2):c.649delC (p.R217Efs*12), PRRT2(NM_145239.2):c.649delC (p.R217Efs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29813703del" "" "pathogenic" "" "0000557818" "0" "90" "16" "29825024" "29825024" "dup" "0" "02326" "PRRT2_000001" "g.29825024dup" "" "" "" "PRRT2(NM_001256442.1):c.649dup (p.(Arg217Profs*8)), PRRT2(NM_001256443.1):c.649dupC (p.R217Pfs*8), PRRT2(NM_001256443.2):c.649dupC (p.R217Pfs*8), P..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29813703dup" "" "pathogenic" "" "0000557819" "0" "90" "16" "29825025" "29825025" "del" "0" "02325" "MVP_000006" "g.29825025del" "" "" "" "PRRT2(NM_001256443.2):c.650delG (p.R217Qfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29813704del" "" "pathogenic" "" "0000557820" "0" "90" "16" "29825054" "29825054" "subst" "0" "02325" "MVP_000007" "g.29825054C>T" "" "" "" "PRRT2(NM_001256443.2):c.679C>T (p.R227*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29813733C>T" "" "pathogenic" "" "0000557822" "0" "30" "16" "29825640" "29825640" "subst" "0.000719016" "02326" "MVP_000008" "g.29825640C>T" "" "" "" "PRRT2(NM_145239.2):c.880-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29814319C>T" "" "likely benign" "" "0000557823" "0" "90" "16" "29825659" "29825659" "del" "0" "02325" "MVP_000009" "g.29825659del" "" "" "" "PRRT2(NM_001256442.2):c.885delG (p.N296Tfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29814338del" "" "pathogenic" "" "0000557824" "0" "10" "16" "29825920" "29825920" "dup" "0" "01943" "MVP_000010" "g.29825920dup" "" "" "" "PRRT2(NM_001256442.1):c.1146dupC (p.V383Rfs*12), PRRT2(NM_001256442.2):c.1146dup (p.(Val383ArgfsTer12))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29814599dup" "" "benign" "" "0000557825" "0" "10" "16" "29826014" "29826014" "subst" "0" "02326" "PRRT2_000042" "g.29826014C>A" "" "" "" "PRRT2(NM_145239.2):c.*55C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29814693C>A" "" "benign" "" "0000577972" "0" "90" "16" "29825024" "29825024" "dup" "0" "01164" "PRRT2_000001" "g.29825024dup" "" "" "" "" "ACMG grading: PVS1, PS3, PP1, PP5; variant reported in Chen 2001. Nat Genet 43: 1252; Heron 2012. Am J Hum Genet 90: 152; Wu 2014. Parkinsonism Relat Disord 20: 1399; Liu 2016. Neurol Genet 2: 66; Lu 2018. Cold Spring Harb Mol Case Stud 1: 2287" "Germline" "" "rs772994486" "0" "" "" "g.29813703dup" "" "pathogenic" "ACMG" "0000598346" "0" "90" "16" "29825024" "29825024" "dup" "0" "01164" "PRRT2_000001" "g.29825024dup" "" "" "" "" "ACMG grading: PP5, PP1, PVS1, PS3; variant reported in Chen 2001. Nat Genet 43: 1252; Heron 2012. Am J Hum Genet 90: 152; Wu 2014. Parkinsonism Relat Disord 20: 1399; Liu 2016. Neurol Genet 2: 66; Lu 2018. Cold Spring Harb Mol Case Stud 1: 2287" "Germline" "" "rs772994486" "0" "" "" "g.29813703dup" "" "pathogenic" "ACMG" "0000615927" "0" "50" "16" "29824955" "29824955" "subst" "5.7467E-5" "02329" "MVP_000012" "g.29824955G>A" "" "" "" "PRRT2(NM_001256443.2):c.580G>A (p.E194K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29813634G>A" "" "VUS" "" "0000615928" "0" "90" "16" "29825852" "29825853" "del" "0" "01943" "MVP_000013" "g.29825852_29825853del" "" "" "" "PRRT2(NM_001256442.1):c.1078_1079delCC (p.P360Cfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29814531_29814532del" "" "pathogenic" "" "0000623438" "0" "30" "16" "29824600" "29824600" "subst" "0.000110089" "01943" "PRRT2_000026" "g.29824600G>A" "" "" "" "PRRT2(NM_001256443.1):c.225G>A (p.P75=), PRRT2(NM_145239.2):c.225G>A (p.P75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29813279G>A" "" "likely benign" "" "0000647135" "0" "90" "16" "29825024" "29825024" "dup" "0" "01164" "PRRT2_000001" "g.29825024dup" "" "" "" "" "Chen et al. 2001. Nat Genet 43: 1252; Heron et al. 2012. Am J Hum Genet 90: 152; Wu et al. 2014. Parkinsonism Relat Disord 20: 1399; Liu et al. 2016. Neurol Genet 2: 66; Lu et al. 2018. Cold Spring Harb Mol Case Stud 1: 2287" "Germline" "" "rs772994486" "0" "" "" "g.29813703dup" "" "pathogenic" "ACMG" "0000649296" "1" "90" "16" "29825171" "29825171" "subst" "4.06683E-6" "03575" "PRRT2_000014" "g.29825171C>T" "1/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs387907128}" "Germline" "" "rs387907128" "0" "" "" "g.29813850C>T" "" "pathogenic" "" "0000653333" "1" "90" "16" "29824548" "29824548" "del" "0" "03575" "PRRT2_000055" "g.29824548del" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs796052940}" "Germline" "" "rs796052940" "0" "" "" "g.29813227del" "" "pathogenic" "" "0000660097" "0" "70" "16" "29825116" "29825116" "del" "0" "01164" "PRRT2_000057" "g.29825116del" "" "" "" "" "ACMG grading: PVS1,PM2; Occurrence of primarily generalized seizures, cMRI and LP inconspicuous, with Valproat and Keppra currently seizure-free, development appropriate to age (7 month); Cloarec et al. 2012. Neurology 79: 2097" "Germline" "" "" "0" "" "" "g.29813795del" "" "likely pathogenic" "ACMG" "0000660265" "0" "70" "16" "29825620" "29825620" "subst" "0" "01164" "PRRT2_000058" "g.29825620G>A" "" "" "" "" "ACMG grading: PS3,PM2,PP1,PP3; Weber et al. 2016. BMC Med Genet 17: 16" "Germline" "" "" "0" "" "" "g.29814299G>A" "" "likely pathogenic" "ACMG" "0000660439" "0" "50" "16" "29824526" "29824526" "subst" "8.1479E-6" "01164" "PRRT2_000056" "g.29824526G>T" "" "" "" "" "" "Germline" "" "rs751112065" "0" "" "" "g.29813205G>T" "" "VUS" "" "0000683385" "0" "70" "16" "29824904" "29824904" "subst" "0" "00006" "PRRT2_000059" "g.29824904G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813583G>A" "" "likely pathogenic (dominant)" "" "0000692040" "0" "30" "16" "29825015" "29825015" "subst" "0.00148845" "02325" "PRRT2_000007" "g.29825015G>C" "" "" "" "PRRT2(NM_145239.3):c.640G>C (p.A214P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000704272" "0" "70" "16" "29824699" "29824700" "del" "0" "01164" "PRRT2_000060" "g.29824699_29824700del" "" "" "" "" "ACMG: PVS1, PM2" "Germline" "?" "" "0" "" "" "g.29813378_29813379del" "{CV:000280888}" "likely pathogenic (dominant)" "ACMG" "0000725735" "0" "90" "16" "29825024" "29825024" "dup" "0" "02329" "PRRT2_000001" "g.29825024dup" "" "" "" "PRRT2(NM_001256442.1):c.649dup (p.(Arg217Profs*8)), PRRT2(NM_001256443.1):c.649dupC (p.R217Pfs*8), PRRT2(NM_001256443.2):c.649dupC (p.R217Pfs*8), P..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725736" "0" "70" "16" "29825199" "29825199" "subst" "0" "02329" "PRRT2_000044" "g.29825199C>T" "" "" "" "PRRT2(NM_001256443.2):c.824C>T (p.S275F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000729800" "0" "70" "16" "29824918" "29824918" "dup" "0" "01164" "PRRT2_000061" "g.29824918dup" "" "" "" "" "ACMG: PVS1, PM2_sup: class 4" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000787363" "0" "50" "16" "29825728" "29825728" "subst" "0" "00006" "PRRT2_000062" "g.29825728C>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.29814407C>G" "" "VUS" "" "0000807343" "0" "30" "16" "29825022" "29825022" "subst" "0.000140482" "02327" "PRRT2_000034" "g.29825022C>G" "" "" "" "PRRT2(NM_001256443.2):c.647C>G (p.P216R), PRRT2(NM_145239.2):c.647C>G (p.P216R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817724" "3" "90" "16" "29825024" "29825024" "dup" "0" "00006" "PRRT2_000001" "g.29825024dup" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.29813703dup" "" "pathogenic (recessive)" "ACMG" "0000820998" "0" "70" "16" "28100001" "34600000" "del" "0" "00000" "CRYM_000000" "g.28100001_34600000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array, microdeletion in 16p11.2" "zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2" "Unknown" "?" "" "0" "" "" "g.28500001_35300000del" "" "likely pathogenic" "" "0000847171" "0" "90" "16" "29825024" "29825024" "dup" "0" "00006" "PRRT2_000001" "g.29825024dup" "" "{PMID:Thomas 2022:34085946}" "" "c.649dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic" "" "0000854469" "0" "50" "16" "29824383" "29824383" "subst" "0" "02325" "MVP_000016" "g.29824383C>G" "" "" "" "PRRT2(NM_145239.3):c.8C>G (p.A3G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854470" "0" "30" "16" "29824508" "29824508" "subst" "0.000301247" "01943" "MVP_000017" "g.29824508C>T" "" "" "" "PRRT2(NM_001256443.1):c.133C>T (p.P45S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854471" "0" "30" "16" "29824814" "29824814" "subst" "0.000916303" "02326" "PRRT2_000006" "g.29824814G>C" "" "" "" "PRRT2(NM_001256442.1):c.439G>C (p.(Asp147His)), PRRT2(NM_145239.2):c.439G>C (p.D147H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854472" "0" "30" "16" "29825019" "29825019" "subst" "0.000811506" "02326" "PRRT2_000010" "g.29825019C>G" "" "" "" "PRRT2(NM_001256443.1):c.644C>G (p.P215R), PRRT2(NM_145239.2):c.644C>G (p.P215R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864744" "0" "30" "16" "29824546" "29824546" "subst" "3.67248E-5" "01804" "MVP_000018" "g.29824546C>T" "" "" "" "PRRT2(NM_001256442.1):c.171C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864745" "0" "30" "16" "29824939" "29824939" "subst" "0.000902216" "01943" "MVP_000004" "g.29824939G>A" "" "" "" "PRRT2(NM_001256442.1):c.564G>A (p.(Gln188=)), PRRT2(NM_001256443.1):c.564G>A (p.Q188=), PRRT2(NM_145239.2):c.564G>A (p.Q188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864746" "0" "90" "16" "29825024" "29825024" "subst" "0" "02329" "PRRT2_000035" "g.29825024C>T" "" "" "" "PRRT2(NM_145239.2):c.649C>T (p.R217*), PRRT2(NM_145239.3):c.649C>T (p.R217*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864747" "0" "90" "16" "29825024" "29825024" "dup" "0" "01804" "PRRT2_000001" "g.29825024dup" "" "" "" "PRRT2(NM_001256442.1):c.649dup (p.(Arg217Profs*8)), PRRT2(NM_001256443.1):c.649dupC (p.R217Pfs*8), PRRT2(NM_001256443.2):c.649dupC (p.R217Pfs*8), P..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864748" "0" "50" "16" "29825949" "29825949" "subst" "0.000242365" "02325" "MVP_000019" "g.29825949T>C" "" "" "" "PRRT2(NM_001256442.1):c.1175T>C (p.(Val392Ala)), PRRT2(NM_145239.3):c.1013T>C (p.V338A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000873330" "0" "70" "16" "29824896" "29824905" "del" "0" "01164" "PRRT2_000063" "g.29824896_29824905del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "" "" "0" "" "" "g.29813575_29813584del" "" "likely pathogenic (dominant)" "ACMG" "0000892912" "0" "50" "16" "29824599" "29824599" "subst" "5.30465E-5" "02327" "MVP_000020" "g.29824599C>T" "" "" "" "PRRT2(NM_145239.2):c.224C>T (p.(Pro75Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892913" "0" "30" "16" "29824939" "29824939" "subst" "0.000902216" "01804" "MVP_000004" "g.29824939G>A" "" "" "" "PRRT2(NM_001256442.1):c.564G>A (p.(Gln188=)), PRRT2(NM_001256443.1):c.564G>A (p.Q188=), PRRT2(NM_145239.2):c.564G>A (p.Q188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000898081" "0" "90" "16" "29825024" "29825024" "dup" "0" "03779" "PRRT2_000001" "g.29825024dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000914604" "0" "30" "16" "29825949" "29825949" "subst" "0.000242365" "01804" "MVP_000019" "g.29825949T>C" "" "" "" "PRRT2(NM_001256442.1):c.1175T>C (p.(Val392Ala)), PRRT2(NM_145239.3):c.1013T>C (p.V338A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927742" "0" "90" "16" "29825024" "29825024" "dup" "0" "03779" "PRRT2_000001" "g.29825024dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000930588" "0" "30" "16" "29821509" "29821509" "subst" "0" "01804" "PRRT2_000064" "g.29821509G>T" "" "" "" "MAZ(NM_001042539.1):c.*134G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950634" "0" "30" "16" "29821441" "29821449" "del" "0" "01804" "PRRT2_000065" "g.29821441_29821449del" "" "" "" "MAZ(NM_001042539.1):c.*66_*74del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981828" "0" "50" "16" "29824375" "29824376" "del" "0" "01804" "MVP_000021" "g.29824375_29824376del" "" "" "" "PRRT2(NM_145239.3):c.-1_1del (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981829" "0" "50" "16" "29825738" "29825738" "subst" "4.17018E-6" "01804" "MVP_000022" "g.29825738G>T" "" "" "" "PRRT2(NM_001256442.1):c.964G>T (p.(Val322Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981830" "0" "50" "16" "29825769" "29825769" "subst" "0" "02327" "MVP_000023" "g.29825769G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002197" "0" "50" "16" "29818506" "29818506" "subst" "0" "01804" "PRRT2_000066" "g.29818506C>T" "" "" "" "MAZ(NM_002383.3):c.400C>T (p.(Pro134Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002198" "0" "30" "16" "29824599" "29824599" "subst" "5.30465E-5" "01804" "MVP_000020" "g.29824599C>T" "" "" "" "PRRT2(NM_145239.2):c.224C>T (p.(Pro75Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002199" "0" "50" "16" "29824750" "29824750" "subst" "0" "01804" "MVP_000024" "g.29824750G>T" "" "" "" "PRRT2(NM_145239.2):c.375G>T (p.(Arg125Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002200" "0" "30" "16" "29824808" "29824808" "subst" "1.62942E-5" "01804" "MVP_000025" "g.29824808C>T" "" "" "" "PRRT2(NM_145239.2):c.433C>T (p.(Arg145Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002201" "0" "50" "16" "29824978" "29824978" "subst" "4.1683E-6" "01804" "MVP_000026" "g.29824978C>G" "" "" "" "PRRT2(NM_145239.2):c.603C>G (p.(His201Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002202" "0" "50" "16" "29825138" "29825138" "subst" "0" "01804" "MVP_000027" "g.29825138G>A" "" "" "" "PRRT2(NM_145239.2):c.763G>A (p.(Gly255Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001023854" "0" "70" "16" "29824996" "29824996" "dup" "0" "03544" "PRRT2_000067" "g.29824996dup" "" "" "" "" "" "Germline" "?" "rs768603598" "0" "" "" "g.29813675dup" "{CV:1323500}" "pathogenic" "ACMG" "0001026689" "0" "30" "16" "29821438" "29821452" "dup" "0" "02325" "PRRT2_000068" "g.29821438_29821452dup" "" "" "" "MAZ(NM_002383.4):c.1320_1334dupGGCGGCAGCGGCAGC (p.A444_A448dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041030" "0" "90" "16" "29825687" "29825687" "subst" "4.14917E-6" "01804" "PRRT2_000013" "g.29825687G>A" "" "" "" "PRRT2(NM_145239.2):c.913G>A (p.(Gly305Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001055510" "0" "50" "16" "29825657" "29825657" "subst" "2.1384E-5" "01804" "MVP_000029" "g.29825657C>T" "" "" "" "PRRT2(NM_145239.3):c.883C>T (p.(Arg295Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066465" "0" "50" "16" "29824694" "29824694" "subst" "0" "02325" "MVP_000031" "g.29824694G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066466" "0" "50" "16" "29825920" "29825920" "dup" "0" "01804" "MVP_000010" "g.29825920dup" "" "" "" "PRRT2(NM_001256442.1):c.1146dupC (p.V383Rfs*12), PRRT2(NM_001256442.2):c.1146dup (p.(Val383ArgfsTer12))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001068826" "0" "50" "16" "29824548" "29824548" "subst" "0" "03779" "PRRT2_000069" "g.29824548C>G" "" "" "" "" "" "Unknown" "" "rs1567378768" "0" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PRRT2 ## Count = 146 "{{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}}" "0000063777" "00016952" "10" "-1034" "0" "-1034" "0" "c.-1034T>C" "r.(=)" "p.(=)" "" "0000063778" "00016952" "10" "751" "0" "751" "0" "c.751T>C" "r.(=)" "p.(=)" "" "0000063779" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "" "0000079295" "00016952" "00" "-217173" "0" "390688" "0" "c.-217173_*389665del" "r.0?" "p.0?" "" "0000079578" "00016952" "00" "-230928" "0" "432292" "0" "c.-230928_*431269dup" "" "" "" "0000079608" "00016952" "00" "-2640559" "0" "2063748" "0" "c.-2640559_*2062725dup" "" "" "" "0000174309" "00016952" "13" "412" "0" "412" "0" "c.412C>G" "r.(?)" "p.(Pro138Ala)" "" "0000174310" "00016952" "13" "439" "0" "439" "0" "c.439G>C" "r.(?)" "p.(Asp147His)" "" "0000174311" "00016952" "15" "640" "0" "640" "0" "c.640G>C" "r.(?)" "p.(Ala214Pro)" "" "0000174312" "00016952" "13" "644" "0" "644" "0" "c.644C>G" "r.(?)" "p.(Pro215Arg)" "" "0000174313" "00016952" "13" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000174314" "00016952" "13" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Gly237Arg)" "" "0000174315" "00016952" "10" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245His)" "" "0000174316" "00016952" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266Trp)" "" "0000174317" "00016952" "90" "841" "0" "841" "0" "c.841T>C" "r.(?)" "p.(Trp281Arg)" "" "0000174318" "00016952" "90" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Ala287Thr)" "" "0000174319" "00016952" "70" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Gly305Arg)" "" "0000174320" "00016952" "90" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Arg308Cys)" "" "0000174321" "00016952" "90" "950" "0" "950" "0" "c.950G>A" "r.(?)" "p.(Ser317Asn)" "" "0000174322" "00016952" "50" "291" "0" "291" "0" "c.291del" "r.(?)" "p.(Asn98Thrfs*17)" "2" "0000174323" "00016952" "50" "629" "0" "629" "0" "c.629del" "r.(?)" "p.(Pro210Glnfs*19)" "2" "0000174324" "00016952" "50" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "2" "0000174325" "00016952" "50" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Gly323Glu)" "3" "0000249621" "00016952" "90" "629" "0" "629" "0" "c.629dup" "r.(?)" "p.(Ala211SerfsTer14)" "" "0000297390" "00016952" "30" "-16" "0" "-16" "0" "c.-16C>T" "r.(?)" "p.(=)" "" "0000297392" "00016952" "30" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000297393" "00016952" "90" "649" "0" "649" "0" "c.649del" "r.(?)" "p.(Arg217GlufsTer12)" "" "0000297395" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217ProfsTer8)" "" "0000297396" "00016952" "30" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Glu23Lys)" "" "0000297397" "00016952" "10" "751" "0" "751" "0" "c.751=" "r.(=)" "p.(Leu251=)" "" "0000297398" "00016952" "30" "867" "0" "867" "0" "c.867T>A" "r.(?)" "p.(Ala289=)" "" "0000301236" "00016952" "30" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Pro75=)" "" "0000301237" "00016952" "30" "227" "0" "227" "0" "c.227C>T" "r.(?)" "p.(Ala76Val)" "" "0000301238" "00016952" "10" "412" "0" "412" "0" "c.412C>G" "r.(?)" "p.(Pro138Ala)" "" "0000301239" "00016952" "30" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Pro154Ser)" "" "0000301240" "00016952" "30" "647" "0" "647" "0" "c.647C>A" "r.(?)" "p.(Pro216His)" "" "0000301241" "00016952" "30" "647" "0" "647" "0" "c.647C>G" "r.(?)" "p.(Pro216Arg)" "" "0000301242" "00016952" "30" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000301243" "00016952" "90" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Ter)" "" "0000301244" "00016952" "70" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Gly324Glu)" "" "0000306500" "00016952" "50" "584" "0" "584" "0" "c.584G>A" "r.(?)" "p.(Gly195Asp)" "" "0000306501" "00016952" "90" "649" "0" "649" "0" "c.649del" "r.(?)" "p.(Arg217GlufsTer12)" "" "0000306502" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217ProfsTer8)" "" "0000324695" "00016952" "50" "-5177" "0" "-5172" "0" "c.-5177_-5172del" "r.(?)" "p.(=)" "" "0000336836" "00016952" "10" "1429" "0" "1429" "0" "c.*406G>T" "r.(=)" "p.(=)" "" "0000337661" "00016952" "10" "1078" "0" "1078" "0" "c.*55C>A" "r.(=)" "p.(=)" "" "0000345899" "00016952" "30" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Gly237Arg)" "" "0000345973" "00016952" "50" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Gly305Arg)" "" "0000348281" "00016952" "30" "644" "0" "644" "0" "c.644C>G" "r.(?)" "p.(Pro215Arg)" "" "0000348282" "00016952" "50" "647" "0" "647" "0" "c.647C>A" "r.(?)" "p.(Pro216His)" "" "0000348283" "00016952" "30" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000351657" "00016952" "90" "629" "0" "629" "0" "c.629dup" "r.(?)" "p.(Ala211Serfs*14)" "2" "0000353207" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "2" "0000353268" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "2" "0000353269" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "2" "0000353270" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "2" "0000353605" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "2" "0000353606" "00016952" "90" "824" "0" "824" "0" "c.824C>T" "r.(?)" "p.(Ser275Phe*)" "2" "0000353608" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "2" "0000353610" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "2" "0000353611" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "2" "0000353613" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "2" "0000353614" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "2" "0000438523" "00016952" "30" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Gly237Arg)" "2" "0000438524" "00016952" "70" "412" "0" "412" "0" "c.412C>G" "r.(?)" "p.(Pro138Ala)" "2" "0000438525" "00016952" "30" "686" "0" "686" "0" "c.686G>A" "r.(?)" "p.(Arg229Lys)" "2" "0000438526" "00016952" "90" "650" "0" "670" "0" "c.650_670delinsCAATGGTGCCACCACTGGGTTAA" "r.(?)" "p.(Arg217Profs*8)" "" "0000438527" "00016952" "90" "650" "0" "670" "0" "c.650_670delinsCAATGGTGCCACCACTGGGTTAA" "r.(?)" "p.(Arg217Profs*8)" "2" "0000438714" "00016952" "50" "743" "0" "743" "0" "c.743G>C" "r.(?)" "p.(Ser248Thr)" "2" "0000440024" "00016952" "90" "593" "0" "594" "0" "c.593_594del" "r.(?)" "p.Pro198Argfs*26" "" "0000442718" "00016952" "90" "514" "0" "517" "0" "c.514_517del" "r.(?)" "p.Ser172Argfs*3" "" "0000499848" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "" "0000557804" "00016952" "30" "-5095" "0" "-5095" "0" "c.-5095C>T" "r.(?)" "p.(=)" "" "0000557807" "00016952" "30" "-2272" "0" "-2258" "0" "c.-2272_-2258del" "r.(?)" "p.(=)" "" "0000557808" "00016952" "30" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Glu23Lys)" "" "0000557809" "00016952" "30" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Glu23Lys)" "" "0000557810" "00016952" "90" "148" "0" "149" "0" "c.148_149insT" "r.(?)" "p.(Pro50LeufsTer84)" "" "0000557811" "00016952" "30" "439" "0" "439" "0" "c.439G>C" "r.(?)" "p.(Asp147His)" "" "0000557812" "00016952" "30" "564" "0" "564" "0" "c.564G>A" "r.(?)" "p.(Gln188=)" "" "0000557813" "00016952" "50" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Ala189Thr)" "" "0000557814" "00016952" "30" "644" "0" "644" "0" "c.644C>G" "r.(?)" "p.(Pro215Arg)" "" "0000557815" "00016952" "50" "647" "0" "647" "0" "c.647C>G" "r.(?)" "p.(Pro216Arg)" "" "0000557816" "00016952" "30" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000557817" "00016952" "90" "649" "0" "649" "0" "c.649del" "r.(?)" "p.(Arg217GlufsTer12)" "" "0000557818" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217ProfsTer8)" "" "0000557819" "00016952" "90" "650" "0" "650" "0" "c.650del" "r.(?)" "p.(Arg217GlnfsTer12)" "" "0000557820" "00016952" "90" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Arg227Ter)" "" "0000557822" "00016952" "30" "880" "-14" "880" "-14" "c.880-14C>T" "r.(=)" "p.(=)" "" "0000557823" "00016952" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Asn296ThrfsTer17)" "" "0000557824" "00016952" "10" "1013" "-29" "1013" "-29" "c.1013-29dup" "r.(=)" "p.(=)" "" "0000557825" "00016952" "10" "1078" "0" "1078" "0" "c.*55C>A" "r.(=)" "p.(=)" "" "0000577972" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "" "0000598346" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "" "0000615927" "00016952" "50" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Glu194Lys)" "" "0000615928" "00016952" "90" "1012" "66" "1012" "67" "c.1012+66_1012+67del" "r.(=)" "p.(=)" "" "0000623438" "00016952" "30" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Pro75=)" "" "0000647135" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217Profs*8)" "" "0000649296" "00016952" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266Trp)" "" "0000653333" "00016952" "90" "173" "0" "173" "0" "c.173del" "r.(?)" "p.(Pro58Leufs*32)" "" "0000660097" "00016952" "70" "741" "0" "741" "0" "c.741del" "r.(?)" "p.(Ser248Alafs*65)" "" "0000660265" "00016952" "70" "880" "-34" "880" "-34" "c.880-34G>A" "r.(?)" "p.(?)" "" "0000660439" "00016952" "50" "151" "0" "151" "0" "c.151G>T" "r.(?)" "p.(Gly51Cys)" "" "0000683385" "00016952" "70" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Glu177Lys)" "" "0000692040" "00016952" "30" "640" "0" "640" "0" "c.640G>C" "r.(?)" "p.(Ala214Pro)" "" "0000704272" "00016952" "70" "324" "0" "325" "0" "c.324_325del" "r.(?)" "p.(Ser110Glnfs*23)" "2" "0000725735" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217ProfsTer8)" "" "0000725736" "00016952" "70" "824" "0" "824" "0" "c.824C>T" "r.(?)" "p.(Ser275Phe)" "" "0000729800" "00016952" "70" "543" "0" "543" "0" "c.543dup" "r.(?)" "p.(Gly182Trpfs*10)" "" "0000787363" "00016952" "50" "954" "0" "954" "0" "c.954C>G" "r.(?)" "p.(Ile318Met)" "3" "0000807343" "00016952" "30" "647" "0" "647" "0" "c.647C>G" "r.(?)" "p.(Pro216Arg)" "" "0000817724" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217ProfsTer8)" "" "0000820998" "00016952" "70" "-1723709" "0" "4775064" "0" "c.-1723709_*4774041del" "r.0?" "p.0?" "" "0000847171" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217ProfsTer8)" "" "0000854469" "00016952" "50" "8" "0" "8" "0" "c.8C>G" "r.(?)" "p.(Ala3Gly)" "" "0000854470" "00016952" "30" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Pro45Ser)" "" "0000854471" "00016952" "30" "439" "0" "439" "0" "c.439G>C" "r.(?)" "p.(Asp147His)" "" "0000854472" "00016952" "30" "644" "0" "644" "0" "c.644C>G" "r.(?)" "p.(Pro215Arg)" "" "0000864744" "00016952" "30" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(Ala57=)" "" "0000864745" "00016952" "30" "564" "0" "564" "0" "c.564G>A" "r.(?)" "p.(Gln188=)" "" "0000864746" "00016952" "90" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Ter)" "" "0000864747" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217ProfsTer8)" "" "0000864748" "00016952" "50" "1013" "0" "1013" "0" "c.1013T>C" "r.(?)" "p.(Val338Ala)" "" "0000873330" "00016952" "70" "521" "0" "530" "0" "c.521_530del" "r.(?)" "p.(Ser174Lysfs*52)" "" "0000892912" "00016952" "50" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Pro75Leu)" "" "0000892913" "00016952" "30" "564" "0" "564" "0" "c.564G>A" "r.(?)" "p.(Gln188=)" "" "0000898081" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217ProfsTer8)" "" "0000914604" "00016952" "30" "1013" "0" "1013" "0" "c.1013T>C" "r.(?)" "p.(Val338Ala)" "" "0000927742" "00016952" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217ProfsTer8)" "" "0000930588" "00016952" "30" "-2201" "0" "-2201" "0" "c.-2201G>T" "r.(?)" "p.(=)" "" "0000950634" "00016952" "30" "-2269" "0" "-2261" "0" "c.-2269_-2261del" "r.(?)" "p.(=)" "" "0000981828" "00016952" "50" "-1" "0" "1" "0" "c.-1_1del" "r.?" "p.?" "" "0000981829" "00016952" "50" "964" "0" "964" "0" "c.964G>T" "r.(?)" "p.(Val322Leu)" "" "0000981830" "00016952" "50" "995" "0" "995" "0" "c.995G>T" "r.(?)" "p.(Cys332Phe)" "" "0001002197" "00016952" "50" "-5204" "0" "-5204" "0" "c.-5204C>T" "r.(?)" "p.(=)" "" "0001002198" "00016952" "30" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Pro75Leu)" "" "0001002199" "00016952" "50" "375" "0" "375" "0" "c.375G>T" "r.(?)" "p.(Arg125Ser)" "" "0001002200" "00016952" "30" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "" "0001002201" "00016952" "50" "603" "0" "603" "0" "c.603C>G" "r.(?)" "p.(His201Gln)" "" "0001002202" "00016952" "50" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Gly255Arg)" "" "0001023854" "00016952" "70" "621" "0" "621" "0" "c.621dup" "r.(?)" "p.(Ser208Ilefs*17)" "2" "0001026689" "00016952" "30" "-2272" "0" "-2258" "0" "c.-2272_-2258dup" "r.(?)" "p.(=)" "" "0001041030" "00016952" "90" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Gly305Arg)" "" "0001055510" "00016952" "50" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295Trp)" "" "0001066465" "00016952" "50" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Glu107Lys)" "" "0001066466" "00016952" "50" "1013" "-29" "1013" "-29" "c.1013-29dup" "r.(=)" "p.(=)" "" "0001068826" "00016952" "50" "173" "0" "173" "0" "c.173C>G" "r.(?)" "p.(Pro58Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 61 "{{screeningid}}" "{{variantid}}" "0000036652" "0000063777" "0000036653" "0000063778" "0000036654" "0000063779" "0000050315" "0000079295" "0000050598" "0000079578" "0000050628" "0000079608" "0000108383" "0000174309" "0000108384" "0000174310" "0000108385" "0000174311" "0000108386" "0000174312" "0000108387" "0000174313" "0000108388" "0000174314" "0000108389" "0000174315" "0000108390" "0000174316" "0000108391" "0000174317" "0000108392" "0000174318" "0000108393" "0000174319" "0000108394" "0000174320" "0000108395" "0000174321" "0000108396" "0000174322" "0000108396" "0000174323" "0000108396" "0000174324" "0000108396" "0000174325" "0000152822" "0000351657" "0000153924" "0000353207" "0000153947" "0000353268" "0000153948" "0000353269" "0000153949" "0000353270" "0000154143" "0000353605" "0000154144" "0000353606" "0000154146" "0000353608" "0000154147" "0000353610" "0000154148" "0000353611" "0000154149" "0000353613" "0000154150" "0000353614" "0000208612" "0000438523" "0000208612" "0000438524" "0000208612" "0000438525" "0000208612" "0000438526" "0000208613" "0000438527" "0000208758" "0000438714" "0000209805" "0000440024" "0000211251" "0000442718" "0000247007" "0000499848" "0000249246" "0000577972" "0000267292" "0000598346" "0000290466" "0000647135" "0000292607" "0000649296" "0000296644" "0000653333" "0000297495" "0000660097" "0000297657" "0000660265" "0000297776" "0000660439" "0000308951" "0000683385" "0000321429" "0000704272" "0000332521" "0000729800" "0000376012" "0000787363" "0000388931" "0000817724" "0000391266" "0000820998" "0000409955" "0000847171" "0000415531" "0000873330" "0000463812" "0001023854"