### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAB3GAP2) # 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}}" "RAB3GAP2" "RAB3 GTPase activating protein subunit 2 (non-catalytic)" "1" "p36.13-p35.3" "unknown" "NG_015837.2" "UD_132084435909" "" "https://www.LOVD.nl/RAB3GAP2" "" "1" "17168" "25782" "609275" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/RAB3GAP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2023-07-24 14:25:51" "00000" "2025-11-01 13:22:20" ## 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}}" "00000135" "RAB3GAP2" "RAB3 GTPase activating protein subunit 2 (non-catalytic)" "001" "NM_012414.3" "" "NP_036546.2" "" "" "" "-164" "7165" "4182" "220445843" "220321610" "00002" "2012-05-11 13:12:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00094" "WARBM2" "Warburg micro syndrome, type 2 (WARBM2)" "AR" "614225" "" "" "" "00006" "2012-12-10 09:15:31" "00006" "2021-12-10 21:51:32" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "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" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00356" "MCOP" "anoophthalmia/microphthalmia" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2025-11-23 21:29:13" "00560" "MARTS1" "Martsolf syndrome, type 1" "AR" "212720" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-07-24 14:22:05" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05330" "TSC" "tuberous sclerosis" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "00006" "2022-08-19 09:49:37" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05657" "MRKHS" "Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS)" "" "277000" "" "" "" "00006" "2019-09-30 13:16:32" "00006" "2021-12-10 21:51:32" "05922" "WARBM" "Warburg Micro syndrome (WARBM)" "" "" "" "" "" "00006" "2021-04-23 15:32:09" "00006" "2021-12-10 21:51:32" "06982" "microlissencephaly" "microlissencephaly" "" "" "" "" "" "00006" "2022-12-05 13:17:25" "" "" "07015" "MARTS" "Martsolf syndrome" "" "" "" "" "" "00006" "2023-07-24 14:24:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "RAB3GAP2" "00094" "RAB3GAP2" "00139" "RAB3GAP2" "00560" "RAB3GAP2" "07015" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00000019" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00050687" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00095157" "" "" "" "2" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "" "00289724" "" "" "" "172" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304183" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00326972" "" "" "" "1" "" "00006" "{PMID:Chen 2021:33434492}, {DOI:Chen 2021:10.1016/j.ajhg.2020.12.014}" "" "F" "" "China" "" "0" "" "" "Han" "MRK37" "00332121" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F49‐M" "00362872" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Mexico" "" "0" "" "" "" "K43" "00362873" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Gambia" "" "0" "" "" "" "K44" "00362874" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Pakistan" "" "0" "" "" "" "K45" "00362875" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Israel" "" "0" "" "" "Arab, Muslim" "K46" "00362876" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Tunisia" "" "0" "" "" "" "K47" "00362877" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Turkey" "" "0" "" "" "" "K48" "00362878" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Turkey" "" "0" "" "" "" "K49" "00362879" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "K50" "00362880" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Netherlands" "" "0" "" "" "" "K51" "00363164" "" "" "" "3" "" "00006" "{PMID:Aligianis 2006:16532399}" "4-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parent/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "family" "00363165" "" "" "" "1" "" "00006" "{PMID:Borck 2011:20967465}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "Pat1" "00374455" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2690" "00374823" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0527" "00385522" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "17013599" "00390427" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001037" "00427091" "" "" "" "1" "" "00006" "{PMID:Ghosh 2020:31586943}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1673PatIII1" "00435409" "" "" "" "1" "" "01164" "" "" "F" "likely" "? (unknown)" "" "0" "" "" "" "264057" "00445055" "" "" "" "1" "" "00006" "{PMID:Kessel 2021:34169787}" "patient" "" "" "Denmark" "" "0" "" "" "" "WARBM1574" "00467591" "" "" "" "1" "" "04911" "" "" "" "" "China" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 28 "{{individualid}}" "{{diseaseid}}" "00000019" "00138" "00000019" "05330" "00000019" "05378" "00050687" "00198" "00095157" "00198" "00289724" "00198" "00304183" "00198" "00326972" "05657" "00332121" "00356" "00362872" "05922" "00362873" "05922" "00362874" "05922" "00362875" "05922" "00362876" "05922" "00362877" "05922" "00362878" "05922" "00362879" "05922" "00362880" "05922" "00363164" "00560" "00363165" "05922" "00374455" "00198" "00374823" "00198" "00385522" "04214" "00390427" "04214" "00427091" "06982" "00435409" "00560" "00445055" "00296" "00467591" "00560" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00094, 00138, 00139, 00198, 00296, 00356, 00560, 04214, 05330, 05378, 05657, 05922, 06982, 07015 ## Count = 23 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Seizures}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037299" "00198" "00050687" "00006" "Isolated (sporadic)" "" "downslanted palpebral fissures, congenital cataract, specific learning disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000073554" "00198" "00095157" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000245437" "05657" "00326972" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Mayer-Rokitansky-Küster-Hauser type I" "" "0000250312" "00356" "00332121" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndromic microphthalmia" "" "0000258242" "05922" "00362872" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "Martsolf syndrome" "Martsolf syndrome" "" "0000258243" "05922" "00362873" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "Martsolf syndrome" "Martsolf syndrome" "" "0000258244" "05922" "00362874" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "WARMB2" "Warburg micro syndrome" "" "0000258245" "05922" "00362875" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "WARMB2" "Warburg micro syndrome" "" "0000258246" "05922" "00362876" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "WARMB2" "Warburg micro syndrome" "" "0000258247" "05922" "00362877" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "WARMB2" "Warburg micro syndrome" "" "0000258248" "05922" "00362878" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "WARMB2" "Warburg micro syndrome" "" "0000258249" "05922" "00362879" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "WARMB2" "Warburg micro syndrome" "" "0000258250" "05922" "00362880" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "WARMB2" "Warburg micro syndrome" "" "0000258530" "00560" "00363164" "00006" "Familial, autosomal recessive" "" "see paper; ..., no intrauterine growth retardation, postnatal growth retardation; birth OF 34cm; postnatal microcephaly; no seizures; truncal hypotonia; limb spasticity and spastic cerebral palsy; 3y-speech; 3y-walking; congenital cataracts?, microphthalmia; brachycephaly; no distinct dysmorphic features, no maxillary retrusion or pouting lips; hirsutism; female no genital abnormalities/male micropenis, cryptorchidism; large ears; CT brain normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "Martsolf syndrome" "Martsolf syndrome" "" "0000258531" "05922" "00363165" "00006" "Familial, autosomal recessive" "00y21m" "see paper; ..., normal length, normal weight at birth; postnatal microcephaly, postnatal growth retardation; hypotonia; 21m-no limb spasticity; severe developmental delay, severe mental retardation; 21m-no speech; 21m-not walking; congenital cataracts; microphthalmia; no optic atrophy; ERG normal, absent visually evoked potentials; large ears; 21m-no kyphoscoliosis; hypoplastic corpus callosum; abnormal gyration; 21m- no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "WARBM2" "Warburg Micro syndrome" "" "0000269665" "00198" "00374455" "00006" "Familial, autosomal recessive" "" "Bilateral congenital cataract, stiffness on both legs and toe walking" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000270033" "00198" "00374823" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "periventricular white matter cystic changes" "" "0000279317" "04214" "00385522" "00000" "Familial, autosomal recessive" "" "" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "" "congenital cataracts" "" "0000283965" "04214" "00390427" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000318108" "06982" "00427091" "00006" "Familial, autosomal recessive" "11y" "birth full term, weight 2990g, OFC -2SD; weight 20kg, height 125cm, OFC -3SD; no gross motor delay, no fine motor delay, no speech delay, normal social development; neonatal seizures, generalized tonic-clonic seizures (2/w), refractory, EEG multifocal spike/wave; lissencephaly spectrum; cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; no cerebellar atrophy; no brainstem hypoplasia; ventriculomegly; reduced white matter; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; vision fixes/follows; hearing responds to noise; no dysmorphism" "" "" "" "" "" "" "" "" "" "" "" "" "" "NEDMCMS" "microlissencephaly" "" "0000325600" "00560" "00435409" "01164" "Unknown" "01y" "High palate, Retrognathia, Hearing impairment, Cataract, Developmental cataract, Hypotelorism, Synophrys, Single transverse palmar crease, Dystonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000334307" "00296" "00445055" "00006" "Familial, autosomal recessive" "" "bilateral cataract, Warburg micro syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "WRBM2" "cataract" "" "0000352832" "00560" "00467591" "04911" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MARTS1" "Martsolf syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000019" "00000019" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000050632" "00050687" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000095555" "00095157" "1" "00006" "00006" "2017-01-06 15:46:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000290892" "00289724" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305312" "00304183" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000328184" "00326972" "1" "00006" "00006" "2021-01-17 16:45:46" "" "" "arrayCGH" "DNA" "" "" "0000333341" "00332121" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000364100" "00362872" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364101" "00362873" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364102" "00362874" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364103" "00362875" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364104" "00362876" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364105" "00362877" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364106" "00362878" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364107" "00362879" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364108" "00362880" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364392" "00363164" "1" "00006" "00006" "2021-04-24 18:24:17" "" "" "arraySNP;RT-PCR;SEQ" "DNA;RNA" "" "" "0000364393" "00363165" "1" "00006" "00006" "2021-04-24 18:43:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000375649" "00374455" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376017" "00374823" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000386751" "00385522" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "144 genes panel tested" "0000391668" "00390427" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000428411" "00427091" "1" "00006" "00006" "2022-12-05 13:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436889" "00435409" "1" "01164" "01164" "2023-07-24 12:27:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000446625" "00445055" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469255" "00467591" "1" "04911" "04911" "2025-10-23 04:41:47" "04911" "2025-10-27 15:56:07" "PCRlr" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 47 "{{screeningid}}" "{{geneid}}" "0000000019" "AFF2" "0000000019" "ALG12" "0000000019" "ALG6" "0000000019" "B3GLCT" "0000000019" "B4GALT1" "0000000019" "BBS12" "0000000019" "CDK5RAP2" "0000000019" "CENPJ" "0000000019" "CRBN" "0000000019" "DHCR7" "0000000019" "EP300" "0000000019" "IL1RAPL1" "0000000019" "KDM5C" "0000000019" "KRAS" "0000000019" "MCPH1" "0000000019" "MED12" "0000000019" "NSD1" "0000000019" "NUFIP1" "0000000019" "POMT1" "0000000019" "RAB3GAP2" "0000000019" "RAF1" "0000000019" "SATB2" "0000000019" "SCN8A" "0000000019" "SIL1" "0000000019" "TSC1" "0000050632" "RAB3GAP2" "0000095555" "RAB3GAP2" "0000328184" "HNF1B" "0000328184" "LHX1" "0000333341" "RAB3GAP2" "0000364100" "RAB3GAP2" "0000364101" "RAB3GAP2" "0000364102" "RAB3GAP2" "0000364103" "RAB3GAP2" "0000364104" "RAB3GAP2" "0000364105" "RAB3GAP2" "0000364106" "RAB3GAP2" "0000364107" "RAB3GAP2" "0000364108" "RAB3GAP2" "0000364392" "RAB3GAP2" "0000364393" "RAB3GAP2" "0000375649" "RAB3GAP2" "0000376017" "RAB3GAP2" "0000386751" "RAB3GAP2" "0000391668" "USH2A" "0000436889" "RAB3GAP2" "0000469255" "RAB3GAP2" ## 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 = 117 "{{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}}" "0000000135" "3" "50" "1" "220322899" "220322900" "ins" "0" "00002" "RAB3GAP2_000001" "g.220322899_220322900insGTT" "" "{PMID:Almomani 2011:21102627}" "" "c.*866+827insAAC" "" "Germline" "" "" "" "" "" "g.220149557_220149558insGTT" "" "VUS" "" "0000079612" "11" "90" "1" "220364620" "220364620" "subst" "4.12313E-5" "00006" "RAB3GAP2_000002" "g.220364620C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.220191278C>T" "" "pathogenic" "" "0000079699" "21" "90" "1" "220375711" "220375711" "subst" "1.21986E-5" "00006" "RAB3GAP2_000003" "g.220375711C>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.220202369C>G" "" "pathogenic" "" "0000154120" "3" "90" "1" "220357421" "220357421" "subst" "0" "00006" "RAB3GAP2_000004" "g.220357421A>C" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "" "T1955G" "" "Germline" "yes" "" "0" "" "" "g.220184079A>C" "" "pathogenic" "" "0000253735" "0" "10" "1" "220366573" "220366573" "subst" "0" "01943" "RAB3GAP2_000028" "g.220366573A>G" "" "" "" "RAB3GAP2(NM_012414.3):c.1270+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220193231A>G" "" "benign" "" "0000253736" "0" "10" "1" "220369757" "220369757" "del" "0" "01943" "RAB3GAP2_000035" "g.220369757del" "" "" "" "RAB3GAP2(NM_012414.3):c.812-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220196415del" "" "benign" "" "0000253737" "0" "10" "1" "220375728" "220375728" "subst" "0.0388242" "01943" "RAB3GAP2_000037" "g.220375728A>G" "" "" "" "RAB3GAP2(NM_012414.3):c.713-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220202386A>G" "" "benign" "" "0000254190" "0" "30" "1" "220364511" "220364511" "subst" "8.12605E-6" "01943" "RAB3GAP2_000025" "g.220364511A>C" "" "" "" "RAB3GAP2(NM_012414.3):c.1386T>G (p.A462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220191169A>C" "" "likely benign" "" "0000254704" "0" "30" "1" "220340884" "220340884" "subst" "1.62534E-5" "01943" "RAB3GAP2_000016" "g.220340884A>T" "" "" "" "RAB3GAP2(NM_012414.3):c.2940T>A (p.L980=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220167542A>T" "" "likely benign" "" "0000297529" "0" "50" "1" "220363737" "220363737" "subst" "4.06312E-5" "02325" "RAB3GAP2_000023" "g.220363737G>A" "" "" "" "RAB3GAP2(NM_012414.4):c.1613C>T (p.P538L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220190395G>A" "" "VUS" "" "0000297530" "0" "50" "1" "220332732" "220332732" "subst" "8.1363E-6" "02325" "RAB3GAP2_000015" "g.220332732C>T" "" "" "" "RAB3GAP2(NM_012414.4):c.3257G>A (p.R1086Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220159390C>T" "" "VUS" "" "0000299231" "0" "70" "1" "220368511" "220368511" "subst" "0" "02329" "RAB3GAP2_000031" "g.220368511T>C" "" "" "" "RAB3GAP2(NM_012414.4):c.1041-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220195169T>C" "" "likely pathogenic" "" "0000299232" "0" "70" "1" "220366582" "220366582" "subst" "0" "02329" "RAB3GAP2_000029" "g.220366582C>A" "" "" "" "RAB3GAP2(NM_012414.4):c.1270G>T (p.G424W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220193240C>A" "" "likely pathogenic" "" "0000306677" "0" "10" "1" "220368527" "220368527" "subst" "0.0411009" "01943" "RAB3GAP2_000032" "g.220368527T>G" "" "" "" "RAB3GAP2(NM_012414.3):c.1041-18A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220195185T>G" "" "benign" "" "0000306678" "0" "30" "1" "220445571" "220445571" "subst" "0" "01943" "RAB3GAP2_000039" "g.220445571C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.109G>A (p.D37N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220272229C>T" "" "likely benign" "" "0000306679" "0" "50" "1" "220366594" "220366594" "subst" "0.000199266" "01943" "RAB3GAP2_000030" "g.220366594G>A" "" "" "" "RAB3GAP2(NM_012414.3):c.1258C>T (p.R420C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220193252G>A" "" "VUS" "" "0000306680" "0" "30" "1" "220364616" "220364616" "subst" "6.98577E-5" "01943" "RAB3GAP2_000027" "g.220364616G>A" "" "" "" "RAB3GAP2(NM_012414.3):c.1281C>T (p.D427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220191274G>A" "" "likely benign" "" "0000306681" "0" "90" "1" "220364527" "220364536" "del" "0" "01943" "RAB3GAP2_000026" "g.220364527_220364536del" "" "" "" "RAB3GAP2(NM_012414.3):c.1361_1370delATTCTCAGGG (p.N454Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220191185_220191194del" "" "pathogenic" "" "0000306682" "0" "50" "1" "220363463" "220363463" "subst" "0.00010578" "01943" "RAB3GAP2_000022" "g.220363463C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.1657G>A (p.D553N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220190121C>T" "" "VUS" "" "0000306683" "0" "10" "1" "220363411" "220363411" "subst" "0.00263299" "01943" "RAB3GAP2_000020" "g.220363411T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.1709A>G (p.N570S, p.(Asn570Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220190069T>C" "" "benign" "" "0000306684" "0" "30" "1" "220356264" "220356264" "subst" "0.00156495" "01943" "RAB3GAP2_000019" "g.220356264G>C" "" "" "" "RAB3GAP2(NM_012414.3):c.2008C>G (p.L670V, p.(Leu670Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220182922G>C" "" "likely benign" "" "0000306685" "0" "50" "1" "220345286" "220345286" "subst" "5.28219E-5" "01943" "RAB3GAP2_000018" "g.220345286G>A" "" "" "" "RAB3GAP2(NM_012414.3):c.2522C>T (p.A841V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220171944G>A" "" "VUS" "" "0000306686" "0" "10" "1" "220344453" "220344453" "subst" "0.0381173" "01943" "RAB3GAP2_000017" "g.220344453T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.2587A>G (p.T863A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220171111T>C" "" "benign" "" "0000306687" "0" "10" "1" "220331205" "220331205" "subst" "0.0860387" "01943" "RAB3GAP2_000014" "g.220331205C>G" "" "" "" "RAB3GAP2(NM_012414.3):c.3275G>C (p.S1092T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220157863C>G" "" "benign" "" "0000306688" "0" "10" "1" "220331134" "220331134" "subst" "0" "01943" "RAB3GAP2_000013" "g.220331134C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.3336+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220157792C>T" "" "benign" "" "0000306689" "0" "50" "1" "220330767" "220330767" "subst" "4.87714E-5" "01943" "RAB3GAP2_000012" "g.220330767C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.3400G>A (p.V1134M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220157425C>T" "" "VUS" "" "0000306690" "0" "10" "1" "220330672" "220330672" "subst" "0.086695" "01943" "RAB3GAP2_000011" "g.220330672C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.3495G>A (p.L1165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220157330C>T" "" "benign" "" "0000306691" "0" "30" "1" "220326717" "220326717" "subst" "1.21845E-5" "01943" "RAB3GAP2_000010" "g.220326717T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.3677A>G (p.Q1226R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220153375T>C" "" "likely benign" "" "0000306692" "0" "30" "1" "220325114" "220325114" "subst" "1.22088E-5" "01943" "RAB3GAP2_000007" "g.220325114T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.3868-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220151772T>C" "" "likely benign" "" "0000306693" "0" "10" "1" "220325050" "220325050" "subst" "0.000845281" "01943" "RAB3GAP2_000006" "g.220325050C>G" "" "" "" "RAB3GAP2(NM_012414.3):c.3924G>C (p.T1308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220151708C>G" "" "benign" "" "0000306694" "0" "30" "1" "220324715" "220324715" "subst" "0.000762839" "01943" "RAB3GAP2_000005" "g.220324715T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.4060A>G (p.I1354V, p.(Ile1354Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220151373T>C" "" "likely benign" "" "0000306695" "0" "30" "1" "220445634" "220445634" "subst" "0.000111786" "01943" "RAB3GAP2_000040" "g.220445634C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.46G>A (p.A16T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220272292C>T" "" "likely benign" "" "0000306696" "0" "30" "1" "220369614" "220369614" "subst" "0.000223712" "01943" "RAB3GAP2_000034" "g.220369614G>A" "" "" "" "RAB3GAP2(NM_012414.3):c.938C>T (p.T313I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220196272G>A" "" "likely benign" "" "0000306697" "0" "30" "1" "220368728" "220368728" "subst" "0" "01943" "RAB3GAP2_000033" "g.220368728C>G" "" "" "" "RAB3GAP2(NM_012414.3):c.961-9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220195386C>G" "" "likely benign" "" "0000321298" "0" "50" "1" "220324715" "220324715" "subst" "0.000762839" "01804" "RAB3GAP2_000005" "g.220324715T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.4060A>G (p.I1354V, p.(Ile1354Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220151373T>C" "" "VUS" "" "0000321300" "0" "50" "1" "220356264" "220356264" "subst" "0.00156495" "01804" "RAB3GAP2_000019" "g.220356264G>C" "" "" "" "RAB3GAP2(NM_012414.3):c.2008C>G (p.L670V, p.(Leu670Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220182922G>C" "" "VUS" "" "0000321301" "0" "50" "1" "220363460" "220363460" "subst" "8.54332E-5" "01804" "RAB3GAP2_000021" "g.220363460T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.1660A>G (p.M554V, p.(Met554Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220190118T>C" "" "VUS" "" "0000337516" "0" "10" "1" "220368527" "220368527" "subst" "0.0411009" "02327" "RAB3GAP2_000032" "g.220368527T>G" "" "" "" "RAB3GAP2(NM_012414.3):c.1041-18A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220195185T>G" "" "benign" "" "0000337518" "0" "10" "1" "220375728" "220375728" "subst" "0.0388242" "02327" "RAB3GAP2_000037" "g.220375728A>G" "" "" "" "RAB3GAP2(NM_012414.3):c.713-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220202386A>G" "" "benign" "" "0000339674" "0" "10" "1" "220330672" "220330672" "subst" "0.086695" "02327" "RAB3GAP2_000011" "g.220330672C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.3495G>A (p.L1165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220157330C>T" "" "benign" "" "0000339675" "0" "10" "1" "220356184" "220356184" "subst" "0.00913459" "02327" "RAB3GAP2_000043" "g.220356184T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.2088A>G (p.T696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220182842T>C" "" "benign" "" "0000342330" "0" "90" "1" "220379267" "220379267" "subst" "8.14956E-6" "02327" "RAB3GAP2_000046" "g.220379267G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220205925G>A" "" "pathogenic" "" "0000345038" "0" "90" "1" "220340637" "220340637" "subst" "0" "02327" "RAB3GAP2_000042" "g.220340637C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220167295C>A" "" "pathogenic" "" "0000345039" "0" "90" "1" "220338075" "220338075" "subst" "0" "02327" "RAB3GAP2_000041" "g.220338075C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220164733C>A" "" "pathogenic" "" "0000348653" "0" "10" "1" "220331205" "220331205" "subst" "0.0860387" "02327" "RAB3GAP2_000014" "g.220331205C>G" "" "" "" "RAB3GAP2(NM_012414.3):c.3275G>C (p.S1092T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220157863C>G" "" "benign" "" "0000349645" "0" "10" "1" "220344453" "220344453" "subst" "0.0381173" "02327" "RAB3GAP2_000017" "g.220344453T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.2587A>G (p.T863A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220171111T>C" "" "benign" "" "0000349746" "0" "90" "1" "220375661" "220375661" "subst" "0" "02327" "RAB3GAP2_000045" "g.220375661C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220202319C>T" "" "pathogenic" "" "0000350246" "0" "50" "1" "220330767" "220330767" "subst" "4.87714E-5" "02327" "RAB3GAP2_000012" "g.220330767C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.3400G>A (p.V1134M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220157425C>T" "" "VUS" "" "0000505477" "0" "30" "1" "220325008" "220325008" "subst" "0.000576936" "01943" "RAB3GAP2_000047" "g.220325008T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.3966A>G (p.K1322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220151666T>C" "" "likely benign" "" "0000505478" "0" "30" "1" "220326637" "220326637" "subst" "0.000373634" "01943" "RAB3GAP2_000048" "g.220326637G>A" "" "" "" "RAB3GAP2(NM_012414.3):c.3757C>T (p.P1253S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220153295G>A" "" "likely benign" "" "0000505479" "0" "30" "1" "220330777" "220330777" "subst" "0.000483669" "01943" "RAB3GAP2_000049" "g.220330777C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.3390G>A (p.A1130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220157435C>T" "" "likely benign" "" "0000505480" "0" "30" "1" "220335594" "220335594" "subst" "9.35165E-5" "01943" "RAB3GAP2_000050" "g.220335594C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.3171G>A (p.M1057I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220162252C>T" "" "likely benign" "" "0000505481" "0" "50" "1" "220344276" "220344276" "subst" "0" "01943" "RAB3GAP2_000051" "g.220344276G>A" "" "" "" "RAB3GAP2(NM_012414.3):c.2764C>T (p.L922F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220170934G>A" "" "VUS" "" "0000505483" "0" "10" "1" "220356184" "220356184" "subst" "0.00913459" "01943" "RAB3GAP2_000043" "g.220356184T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.2088A>G (p.T696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220182842T>C" "" "benign" "" "0000505484" "0" "30" "1" "220363038" "220363038" "subst" "0.000835591" "01943" "RAB3GAP2_000053" "g.220363038C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.1779+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220189696C>T" "" "likely benign" "" "0000505485" "0" "30" "1" "220363114" "220363114" "subst" "0" "01804" "RAB3GAP2_000054" "g.220363114A>C" "" "" "" "RAB3GAP2(NM_012414.3):c.1715-5T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220189772A>C" "" "likely benign" "" "0000505486" "0" "30" "1" "220363115" "220363115" "subst" "0" "01804" "RAB3GAP2_000055" "g.220363115A>C" "" "" "" "RAB3GAP2(NM_012414.3):c.1715-6T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220189773A>C" "" "likely benign" "" "0000505487" "0" "30" "1" "220363411" "220363411" "subst" "0.00263299" "01804" "RAB3GAP2_000020" "g.220363411T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.1709A>G (p.N570S, p.(Asn570Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220190069T>C" "" "likely benign" "" "0000505488" "0" "30" "1" "220363415" "220363415" "subst" "1.62766E-5" "01943" "RAB3GAP2_000056" "g.220363415G>T" "" "" "" "RAB3GAP2(NM_012414.3):c.1705C>A (p.P569T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220190073G>T" "" "likely benign" "" "0000505489" "0" "30" "1" "220364416" "220364416" "subst" "2.03293E-5" "01943" "RAB3GAP2_000057" "g.220364416T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.1481A>G (p.H494R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220191074T>C" "" "likely benign" "" "0000505491" "0" "90" "1" "220364622" "220364622" "subst" "0" "01943" "RAB3GAP2_000059" "g.220364622G>C" "" "" "" "RAB3GAP2(NM_012414.3):c.1275C>G (p.Y425*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220191280G>C" "" "pathogenic" "" "0000505493" "0" "10" "1" "220368733" "220368733" "subst" "0.00504523" "01943" "RAB3GAP2_000061" "g.220368733C>A" "" "" "" "RAB3GAP2(NM_012414.3):c.961-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220195391C>A" "" "benign" "" "0000505495" "0" "30" "1" "220387231" "220387231" "subst" "0" "01804" "RAB3GAP2_000062" "g.220387231T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.271A>G (p.(Ile91Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220213889T>C" "" "likely benign" "" "0000505496" "0" "90" "1" "220387237" "220387237" "dup" "0" "01943" "RAB3GAP2_000063" "g.220387237dup" "" "" "" "RAB3GAP2(NM_012414.3):c.265dupA (p.M89Nfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220213895dup" "" "pathogenic" "" "0000605193" "0" "50" "1" "220324706" "220324706" "subst" "4.10139E-6" "02325" "RAB3GAP2_000064" "g.220324706T>C" "" "" "" "RAB3GAP2(NM_012414.4):c.4069A>G (p.T1357A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220151364T>C" "" "VUS" "" "0000605194" "0" "30" "1" "220355605" "220355605" "subst" "0.000284456" "01943" "RAB3GAP2_000066" "g.220355605C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.2304G>A (p.L768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220182263C>T" "" "likely benign" "" "0000605195" "0" "90" "1" "220364553" "220364553" "dup" "0" "02327" "RAB3GAP2_000058" "g.220364553dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220191211dup" "" "pathogenic" "" "0000620508" "0" "30" "1" "220344269" "220344269" "subst" "2.03212E-5" "01943" "RAB3GAP2_000065" "g.220344269C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.2771G>A (p.R924K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220170927C>T" "" "likely benign" "" "0000647581" "1" "30" "1" "220344453" "220344453" "subst" "0.0381173" "03575" "RAB3GAP2_000017" "g.220344453T>C" "172/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "172 heterozygous; {DB:CLININrs12045447}" "Germline" "" "rs12045447" "0" "" "" "g.220171111T>C" "" "likely benign" "" "0000669000" "3" "30" "1" "220344453" "220344453" "subst" "0.0381173" "03575" "RAB3GAP2_000017" "g.220344453T>C" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs12045447}" "Germline" "" "rs12045447" "0" "" "" "g.220171111T>C" "" "likely benign" "" "0000675663" "0" "30" "1" "220325047" "220325047" "subst" "0" "01943" "RAB3GAP2_000067" "g.220325047C>A" "" "" "" "RAB3GAP2(NM_012414.3):c.3927G>T (p.G1309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675664" "0" "30" "1" "220355619" "220355619" "subst" "0.00101591" "01943" "RAB3GAP2_000068" "g.220355619G>A" "" "" "" "RAB3GAP2(NM_012414.3):c.2290C>T (p.L764F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675665" "0" "30" "1" "220356104" "220356104" "subst" "0.000460818" "01943" "RAB3GAP2_000069" "g.220356104A>T" "" "" "" "RAB3GAP2(NM_012414.3):c.2168T>A (p.V723E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675666" "0" "50" "1" "220364620" "220364620" "subst" "4.12313E-5" "01943" "RAB3GAP2_000002" "g.220364620C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.1277G>A (p.R426H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688028" "0" "50" "1" "220326591" "220326591" "subst" "4.06114E-6" "01943" "RAB3GAP2_000009" "g.220326591T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.3803A>G (p.D1268G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717175" "0" "70" "1" "220332733" "220332733" "subst" "0" "02329" "RAB3GAP2_000070" "g.220332733G>A" "" "" "" "RAB3GAP2(NM_012414.4):c.3256C>T (p.R1086*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717176" "0" "50" "1" "220355661" "220355661" "subst" "0" "01943" "RAB3GAP2_000071" "g.220355661T>G" "" "" "" "RAB3GAP2(NM_012414.3):c.2248A>C (p.S750R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717177" "0" "50" "1" "220363770" "220363770" "subst" "0.000353518" "02329" "RAB3GAP2_000024" "g.220363770G>A" "" "" "" "RAB3GAP2(NM_012414.3):c.1580C>T (p.P527L), RAB3GAP2(NM_012414.4):c.1580C>T (p.P527L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730912" "3" "90" "1" "220327318" "220327318" "subst" "8.13438E-6" "00000" "RAB3GAP2_000072" "g.220327318G>A" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.220153976G>A" "" "pathogenic (recessive)" "" "0000764854" "3" "90" "1" "220364621" "220364621" "subst" "2.06914E-5" "00006" "RAB3GAP2_000076" "g.220364621G>A" "" "{PMID:Handley 2013:23420520}" "" "" "" "Germline" "" "" "0" "" "" "g.220191279G>A" "" "pathogenic (recessive)" "" "0000764855" "3" "90" "1" "220364621" "220364621" "subst" "2.06914E-5" "00006" "RAB3GAP2_000076" "g.220364621G>A" "" "{PMID:Handley 2013:23420520}" "" "" "" "Germline" "" "" "0" "" "" "g.220191279G>A" "" "pathogenic (recessive)" "" "0000764856" "3" "90" "1" "220384324" "220384324" "dup" "0" "00006" "RAB3GAP2_000078" "g.220384324dup" "" "{PMID:Handley 2013:23420520}" "" "" "" "Germline" "" "" "0" "" "" "g.220210982dup" "" "pathogenic (recessive)" "" "0000764857" "3" "90" "1" "220356091" "220356094" "del" "0" "00006" "RAB3GAP2_000074" "g.220356091_220356094del" "" "{PMID:Handley 2013:23420520}" "" "2178_2181delAAAG" "" "Germline" "" "" "0" "" "" "g.220182749_220182752del" "" "pathogenic (recessive)" "" "0000764858" "3" "90" "1" "220364463" "220364463" "subst" "0" "00006" "RAB3GAP2_000075" "g.220364463C>T" "" "{PMID:Handley 2013:23420520}" "" "" "" "Germline" "" "" "0" "" "" "g.220191121C>T" "" "pathogenic (recessive)" "" "0000764859" "3" "90" "1" "220406174" "220406174" "subst" "0" "00006" "RAB3GAP2_000079" "g.220406174C>T" "" "{PMID:Handley 2013:23420520}" "" "" "" "Germline" "" "" "0" "" "" "g.220232832C>T" "" "pathogenic (recessive)" "" "0000764860" "3" "90" "1" "220383753" "220383753" "subst" "0" "00006" "RAB3GAP2_000077" "g.220383753G>A" "" "{PMID:Handley 2013:23420520}" "" "" "" "Germline" "" "" "0" "" "" "g.220210411G>A" "" "pathogenic (recessive)" "" "0000764861" "3" "90" "1" "220327318" "220327318" "subst" "8.13438E-6" "00006" "RAB3GAP2_000072" "g.220327318G>A" "" "{PMID:Handley 2013:23420520}" "" "" "" "Germline" "" "" "0" "" "" "g.220153976G>A" "" "pathogenic (recessive)" "" "0000764862" "0" "90" "1" "220340637" "220340637" "subst" "0" "00006" "RAB3GAP2_000042" "g.220340637C>A" "" "{PMID:Handley 2013:23420520}" "" "" "" "Germline" "" "" "0" "" "" "g.220167295C>A" "" "pathogenic (recessive)" "" "0000765172" "3" "90" "1" "220338075" "220338075" "subst" "0" "00006" "RAB3GAP2_000041" "g.220338075C>A" "" "{PMID:Aligianis 2006:16532399}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000765173" "3" "90" "1" "220384146" "220384154" "del" "0" "00006" "RAB3GAP2_000073" "g.220384146_220384154del" "" "{PMID:Borck 2011:20967465}" "" "499_507delTTCTACACT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000787000" "3" "70" "1" "220357439" "220357440" "del" "0" "00006" "RAB3GAP2_000080" "g.220357439_220357440del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.1937_1938delAT" "" "Germline" "" "" "0" "" "" "g.220184097_220184098del" "" "likely pathogenic" "" "0000787368" "0" "50" "1" "220359010" "220359010" "subst" "0" "00006" "RAB3GAP2_000081" "g.220359010T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs1369418378" "0" "" "" "g.220185668T>C" "" "VUS" "" "0000799108" "0" "30" "1" "220326692" "220326692" "subst" "0.000109653" "01943" "RAB3GAP2_000082" "g.220326692G>A" "" "" "" "RAB3GAP2(NM_012414.3):c.3702C>T (p.V1234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799109" "0" "50" "1" "220356096" "220356096" "subst" "8.17675E-5" "01943" "RAB3GAP2_000083" "g.220356096T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.2176A>G (p.I726V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799110" "0" "70" "1" "220357439" "220357440" "del" "0" "01943" "RAB3GAP2_000080" "g.220357439_220357440del" "" "" "" "RAB3GAP2(NM_012414.3):c.1937_1938delAT (p.Y646*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799111" "0" "30" "1" "220359065" "220359065" "subst" "8.13948E-6" "01943" "RAB3GAP2_000084" "g.220359065C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.1798G>A (p.A600T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799112" "0" "30" "1" "220363460" "220363460" "subst" "8.54332E-5" "01943" "RAB3GAP2_000021" "g.220363460T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.1660A>G (p.M554V, p.(Met554Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799113" "0" "30" "1" "220363488" "220363488" "subst" "4.07153E-6" "01943" "RAB3GAP2_000085" "g.220363488A>G" "" "" "" "RAB3GAP2(NM_012414.3):c.1632T>C (p.S544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799114" "0" "30" "1" "220366637" "220366637" "subst" "9.35789E-5" "01943" "RAB3GAP2_000086" "g.220366637G>A" "" "" "" "RAB3GAP2(NM_012414.3):c.1215C>T (p.F405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799115" "0" "30" "1" "220387267" "220387267" "subst" "0" "01943" "RAB3GAP2_000087" "g.220387267C>G" "" "" "" "RAB3GAP2(NM_012414.3):c.235G>C (p.V79L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799116" "0" "30" "1" "220445608" "220445608" "subst" "1.65994E-5" "01943" "RAB3GAP2_000088" "g.220445608G>A" "" "" "" "RAB3GAP2(NM_012414.3):c.72C>T (p.H24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000814431" "0" "50" "1" "220324599" "220324602" "del" "0" "00000" "RAB3GAP2_000089" "g.220324599_220324602del" "" "{PMID:Lenassi 2020:31848469}" "" "RAB3GAP2 c.4175_4178del p.(Ser1392TyrfsTer10) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.220151257_220151260del" "" "VUS" "ACMG" "0000821616" "0" "70" "1" "216240159" "222780953" "del" "0" "00000" "USH2A_000000" "g.216240159_222780953del" "" "{PMID:Turro 2020:32581362}" "" "chr1:g.216240159_222780953del" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000848537" "0" "50" "1" "220330704" "220330704" "subst" "0" "02325" "RAB3GAP2_000091" "g.220330704C>T" "" "" "" "RAB3GAP2(NM_012414.4):c.3463G>A (p.V1155M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857287" "0" "30" "1" "220325020" "220325020" "subst" "4.06286E-6" "01943" "RAB3GAP2_000090" "g.220325020G>T" "" "" "" "RAB3GAP2(NM_012414.3):c.3954C>A (p.H1318Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857288" "0" "50" "1" "220366693" "220366693" "subst" "0" "01943" "RAB3GAP2_000092" "g.220366693C>T" "" "" "" "RAB3GAP2(NM_012414.3):c.1159G>A (p.G387S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000906214" "3" "50" "1" "220356253" "220356253" "subst" "4.07087E-6" "00006" "RAB3GAP2_000093" "g.220356253C>G" "" "{PMID:Ghosh 2020:31586943}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000931567" "3" "70" "1" "220355697" "220355697" "subst" "0" "01164" "RAB3GAP2_000094" "g.220355697C>T" "" "" "" "" "ACMG: PVS1, PS4_SUP, PM2_SUP" "Germline" "-" "" "0" "" "" "g.220182355C>T" "VCV000521623.3" "pathogenic (recessive)" "ACMG" "0000954978" "3" "70" "1" "220325709" "220328356" "del" "0" "00006" "RAB3GAP2_000095" "g.220325709_220328356del" "" "{PMID:Kessel 2021:34169787}" "" "c.3556-948_c.3868-594del" "ACMG PSV1, PM2" "Germline" "" "" "0" "" "" "g.220152367_220155014del" "" "likely pathogenic (recessive)" "" "0000973646" "0" "30" "1" "220331135" "220331135" "subst" "0" "01804" "RAB3GAP2_000096" "g.220331135C>G" "" "" "" "RAB3GAP2(NM_012414.4):c.3336+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973647" "0" "30" "1" "220345222" "220345222" "subst" "2.43706E-5" "01804" "RAB3GAP2_000097" "g.220345222C>T" "" "" "" "RAB3GAP2(NM_012414.4):c.2577+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973648" "0" "50" "1" "220364491" "220364491" "subst" "0.000195054" "01804" "RAB3GAP2_000098" "g.220364491G>A" "" "" "" "RAB3GAP2(NM_012414.4):c.1406C>T (p.(Ala469Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024112" "0" "50" "1" "220363770" "220363770" "subst" "0.000353518" "01943" "RAB3GAP2_000024" "g.220363770G>A" "" "" "" "RAB3GAP2(NM_012414.3):c.1580C>T (p.P527L), RAB3GAP2(NM_012414.4):c.1580C>T (p.P527L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045644" "0" "70" "1" "220364621" "220364621" "subst" "2.06914E-5" "02327" "RAB3GAP2_000076" "g.220364621G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001049526" "21" "50" "1" "220387193" "220387193" "subst" "0" "04911" "RAB3GAP2_000099" "g.220387193C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.220213851C>A" "" "VUS" "" "0001050432" "0" "50" "1" "220379266" "220379266" "subst" "4.4824E-5" "01804" "RAB3GAP2_000100" "g.220379266C>T" "" "" "" "RAB3GAP2(NM_012414.4):c.695G>A (p.(Arg232Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050433" "0" "50" "1" "220387293" "220387293" "del" "0" "01804" "RAB3GAP2_000101" "g.220387293del" "" "" "" "RAB3GAP2(NM_012414.4):c.214del (p.(Thr72Leufs*19))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RAB3GAP2 ## Count = 117 "{{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}}" "0000000135" "00000135" "50" "5876" "0" "5877" "0" "c.*1694_*1695insACA" "r.(=)" "p.(=)" "" "0000079612" "00000135" "00" "1277" "0" "1277" "0" "c.1277G>A" "r.(?)" "p.(Arg426His)" "" "0000079699" "00000135" "00" "718" "0" "718" "0" "c.718G>C" "r.(?)" "p.(Ala240Pro)" "" "0000154120" "00000135" "90" "1955" "0" "1955" "0" "c.1955T>G" "r.(?)" "p.(Leu652*)" "" "0000253735" "00000135" "10" "1270" "9" "1270" "9" "c.1270+9T>C" "r.(=)" "p.(=)" "" "0000253736" "00000135" "10" "812" "-6" "812" "-6" "c.812-6del" "r.(=)" "p.(=)" "" "0000253737" "00000135" "10" "713" "-12" "713" "-12" "c.713-12T>C" "r.(=)" "p.(=)" "" "0000254190" "00000135" "30" "1386" "0" "1386" "0" "c.1386T>G" "r.(?)" "p.(Ala462=)" "" "0000254704" "00000135" "30" "2940" "0" "2940" "0" "c.2940T>A" "r.(?)" "p.(Leu980=)" "" "0000297529" "00000135" "50" "1613" "0" "1613" "0" "c.1613C>T" "r.(?)" "p.(Pro538Leu)" "" "0000297530" "00000135" "50" "3257" "0" "3257" "0" "c.3257G>A" "r.(?)" "p.(Arg1086Gln)" "" "0000299231" "00000135" "70" "1041" "-2" "1041" "-2" "c.1041-2A>G" "r.spl?" "p.?" "" "0000299232" "00000135" "70" "1270" "0" "1270" "0" "c.1270G>T" "r.(?)" "p.(Gly424Trp)" "" "0000306677" "00000135" "10" "1041" "-18" "1041" "-18" "c.1041-18A>C" "r.(=)" "p.(=)" "" "0000306678" "00000135" "30" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Asp37Asn)" "" "0000306679" "00000135" "50" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Arg420Cys)" "" "0000306680" "00000135" "30" "1281" "0" "1281" "0" "c.1281C>T" "r.(?)" "p.(Asp427=)" "" "0000306681" "00000135" "90" "1361" "0" "1370" "0" "c.1361_1370del" "r.(?)" "p.(Asn454IlefsTer5)" "" "0000306682" "00000135" "50" "1657" "0" "1657" "0" "c.1657G>A" "r.(?)" "p.(Asp553Asn)" "" "0000306683" "00000135" "10" "1709" "0" "1709" "0" "c.1709A>G" "r.(?)" "p.(Asn570Ser)" "" "0000306684" "00000135" "30" "2008" "0" "2008" "0" "c.2008C>G" "r.(?)" "p.(Leu670Val)" "" "0000306685" "00000135" "50" "2522" "0" "2522" "0" "c.2522C>T" "r.(?)" "p.(Ala841Val)" "" "0000306686" "00000135" "10" "2587" "0" "2587" "0" "c.2587A>G" "r.(?)" "p.(Thr863Ala)" "" "0000306687" "00000135" "10" "3275" "0" "3275" "0" "c.3275G>C" "r.(?)" "p.(Ser1092Thr)" "" "0000306688" "00000135" "10" "3336" "10" "3336" "10" "c.3336+10G>A" "r.(=)" "p.(=)" "" "0000306689" "00000135" "50" "3400" "0" "3400" "0" "c.3400G>A" "r.(?)" "p.(Val1134Met)" "" "0000306690" "00000135" "10" "3495" "0" "3495" "0" "c.3495G>A" "r.(?)" "p.(Leu1165=)" "" "0000306691" "00000135" "30" "3677" "0" "3677" "0" "c.3677A>G" "r.(?)" "p.(Gln1226Arg)" "" "0000306692" "00000135" "30" "3868" "-8" "3868" "-8" "c.3868-8A>G" "r.(=)" "p.(=)" "" "0000306693" "00000135" "10" "3924" "0" "3924" "0" "c.3924G>C" "r.(?)" "p.(Thr1308=)" "" "0000306694" "00000135" "30" "4060" "0" "4060" "0" "c.4060A>G" "r.(?)" "p.(Ile1354Val)" "" "0000306695" "00000135" "30" "46" "0" "46" "0" "c.46G>A" "r.(?)" "p.(Ala16Thr)" "" "0000306696" "00000135" "30" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Thr313Ile)" "" "0000306697" "00000135" "30" "961" "-9" "961" "-9" "c.961-9G>C" "r.(=)" "p.(=)" "" "0000321298" "00000135" "50" "4060" "0" "4060" "0" "c.4060A>G" "r.(?)" "p.(Ile1354Val)" "" "0000321300" "00000135" "50" "2008" "0" "2008" "0" "c.2008C>G" "r.(?)" "p.(Leu670Val)" "" "0000321301" "00000135" "50" "1660" "0" "1660" "0" "c.1660A>G" "r.(?)" "p.(Met554Val)" "" "0000337516" "00000135" "10" "1041" "-18" "1041" "-18" "c.1041-18A>C" "r.(=)" "p.(=)" "" "0000337518" "00000135" "10" "713" "-12" "713" "-12" "c.713-12T>C" "r.(=)" "p.(=)" "" "0000339674" "00000135" "10" "3495" "0" "3495" "0" "c.3495G>A" "r.(?)" "p.(Leu1165=)" "" "0000339675" "00000135" "10" "2088" "0" "2088" "0" "c.2088A>G" "r.(?)" "p.(Thr696=)" "" "0000342330" "00000135" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232Ter)" "" "0000345038" "00000135" "90" "3085" "0" "3085" "0" "c.3085G>T" "r.(?)" "p.(Glu1029Ter)" "" "0000345039" "00000135" "90" "3154" "0" "3154" "0" "c.3154G>T" "r.(?)" "p.(Gly1052Cys)" "" "0000348653" "00000135" "10" "3275" "0" "3275" "0" "c.3275G>C" "r.(?)" "p.(Ser1092Thr)" "" "0000349645" "00000135" "10" "2587" "0" "2587" "0" "c.2587A>G" "r.(?)" "p.(Thr863Ala)" "" "0000349746" "00000135" "90" "768" "0" "768" "0" "c.768G>A" "r.(?)" "p.(Trp256Ter)" "" "0000350246" "00000135" "50" "3400" "0" "3400" "0" "c.3400G>A" "r.(?)" "p.(Val1134Met)" "" "0000505477" "00000135" "30" "3966" "0" "3966" "0" "c.3966A>G" "r.(?)" "p.(Lys1322=)" "" "0000505478" "00000135" "30" "3757" "0" "3757" "0" "c.3757C>T" "r.(?)" "p.(Pro1253Ser)" "" "0000505479" "00000135" "30" "3390" "0" "3390" "0" "c.3390G>A" "r.(?)" "p.(Ala1130=)" "" "0000505480" "00000135" "30" "3171" "0" "3171" "0" "c.3171G>A" "r.(?)" "p.(Met1057Ile)" "" "0000505481" "00000135" "50" "2764" "0" "2764" "0" "c.2764C>T" "r.(?)" "p.(Leu922Phe)" "" "0000505483" "00000135" "10" "2088" "0" "2088" "0" "c.2088A>G" "r.(?)" "p.(Thr696=)" "" "0000505484" "00000135" "30" "1779" "7" "1779" "7" "c.1779+7G>A" "r.(=)" "p.(=)" "" "0000505485" "00000135" "30" "1715" "-5" "1715" "-5" "c.1715-5T>G" "r.spl?" "p.?" "" "0000505486" "00000135" "30" "1715" "-6" "1715" "-6" "c.1715-6T>G" "r.(=)" "p.(=)" "" "0000505487" "00000135" "30" "1709" "0" "1709" "0" "c.1709A>G" "r.(?)" "p.(Asn570Ser)" "" "0000505488" "00000135" "30" "1705" "0" "1705" "0" "c.1705C>A" "r.(?)" "p.(Pro569Thr)" "" "0000505489" "00000135" "30" "1481" "0" "1481" "0" "c.1481A>G" "r.(?)" "p.(His494Arg)" "" "0000505491" "00000135" "90" "1275" "0" "1275" "0" "c.1275C>G" "r.(?)" "p.(Tyr425Ter)" "" "0000505493" "00000135" "10" "961" "-14" "961" "-14" "c.961-14G>T" "r.(=)" "p.(=)" "" "0000505495" "00000135" "30" "271" "0" "271" "0" "c.271A>G" "r.(?)" "p.(Ile91Val)" "" "0000505496" "00000135" "90" "265" "0" "265" "0" "c.265dup" "r.(?)" "p.(Met89AsnfsTer19)" "" "0000605193" "00000135" "50" "4069" "0" "4069" "0" "c.4069A>G" "r.(?)" "p.(Thr1357Ala)" "" "0000605194" "00000135" "30" "2304" "0" "2304" "0" "c.2304G>A" "r.(?)" "p.(Leu768=)" "" "0000605195" "00000135" "90" "1348" "0" "1348" "0" "c.1348dup" "r.(?)" "p.(Ser450PhefsTer36)" "" "0000620508" "00000135" "30" "2771" "0" "2771" "0" "c.2771G>A" "r.(?)" "p.(Arg924Lys)" "" "0000647581" "00000135" "30" "2587" "0" "2587" "0" "c.2587A>G" "r.(?)" "p.(Thr863Ala)" "" "0000669000" "00000135" "30" "2587" "0" "2587" "0" "c.2587A>G" "r.(?)" "p.(Thr863Ala)" "" "0000675663" "00000135" "30" "3927" "0" "3927" "0" "c.3927G>T" "r.(?)" "p.(Gly1309=)" "" "0000675664" "00000135" "30" "2290" "0" "2290" "0" "c.2290C>T" "r.(?)" "p.(Leu764Phe)" "" "0000675665" "00000135" "30" "2168" "0" "2168" "0" "c.2168T>A" "r.(?)" "p.(Val723Glu)" "" "0000675666" "00000135" "50" "1277" "0" "1277" "0" "c.1277G>A" "r.(?)" "p.(Arg426His)" "" "0000688028" "00000135" "50" "3803" "0" "3803" "0" "c.3803A>G" "r.(?)" "p.(Asp1268Gly)" "" "0000717175" "00000135" "70" "3256" "0" "3256" "0" "c.3256C>T" "r.(?)" "p.(Arg1086*)" "" "0000717176" "00000135" "50" "2248" "0" "2248" "0" "c.2248A>C" "r.(?)" "p.(Ser750Arg)" "" "0000717177" "00000135" "50" "1580" "0" "1580" "0" "c.1580C>T" "r.(?)" "p.(Pro527Leu)" "" "0000730912" "00000135" "90" "3637" "0" "3637" "0" "c.3637C>T" "r.(?)" "p.(Arg1213*)" "" "0000764854" "00000135" "90" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Cys)" "14" "0000764855" "00000135" "90" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Cys)" "14" "0000764856" "00000135" "90" "407" "0" "407" "0" "c.407dup" "r.(?)" "p.(Cys137MetfsTer16)" "5" "0000764857" "00000135" "90" "2181" "0" "2184" "0" "c.2181_2184del" "r.(?)" "p.(Lys728Ter)" "20" "0000764858" "00000135" "90" "1434" "0" "1434" "0" "c.1434G>A" "r.(?)" "p.(Trp478Ter)" "14" "0000764859" "00000135" "90" "147" "0" "147" "0" "c.147G>A" "r.(?)" "p.(Trp49Ter)" "2" "0000764860" "00000135" "90" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Arg197Ter)" "7" "0000764861" "00000135" "90" "3637" "0" "3637" "0" "c.3637C>T" "r.(?)" "p.(Arg1213Ter)" "32" "0000764862" "00000135" "90" "3085" "0" "3085" "0" "c.3085G>T" "r.(?)" "p.(Glu1029Ter)" "26" "0000765172" "00000135" "90" "3154" "0" "3154" "0" "c.3154G>T" "r.[3088_3154del,3154g>u]" "p.[Glu1030Alafs*4,Gly1052Cys]" "" "0000765173" "00000135" "90" "499" "0" "507" "0" "c.499_507del" "r.499_507del" "p.Phe167_Thr169del" "" "0000787000" "00000135" "70" "1937" "0" "1938" "0" "c.1937_1938del" "r.(?)" "p.(Tyr646Ter)" "19" "0000787368" "00000135" "50" "1853" "0" "1853" "0" "c.1853A>G" "r.(?)" "p.(Asp618Gly)" "18" "0000799108" "00000135" "30" "3702" "0" "3702" "0" "c.3702C>T" "r.(?)" "p.(Val1234=)" "" "0000799109" "00000135" "50" "2176" "0" "2176" "0" "c.2176A>G" "r.(?)" "p.(Ile726Val)" "" "0000799110" "00000135" "70" "1937" "0" "1938" "0" "c.1937_1938del" "r.(?)" "p.(Tyr646*)" "" "0000799111" "00000135" "30" "1798" "0" "1798" "0" "c.1798G>A" "r.(?)" "p.(Ala600Thr)" "" "0000799112" "00000135" "30" "1660" "0" "1660" "0" "c.1660A>G" "r.(?)" "p.(Met554Val)" "" "0000799113" "00000135" "30" "1632" "0" "1632" "0" "c.1632T>C" "r.(?)" "p.(Ser544=)" "" "0000799114" "00000135" "30" "1215" "0" "1215" "0" "c.1215C>T" "r.(?)" "p.(Phe405=)" "" "0000799115" "00000135" "30" "235" "0" "235" "0" "c.235G>C" "r.(?)" "p.(Val79Leu)" "" "0000799116" "00000135" "30" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(His24=)" "" "0000814431" "00000135" "50" "4175" "0" "4178" "0" "c.4175_4178del" "r.(?)" "p.(Ser1392TyrfsTer10)" "" "0000821616" "00000135" "70" "-164" "-2335110" "7165" "4081451" "c.-2335274_*4084434del" "r.0?" "p.0?" "" "0000848537" "00000135" "50" "3463" "0" "3463" "0" "c.3463G>A" "r.(?)" "p.(Val1155Met)" "" "0000857287" "00000135" "30" "3954" "0" "3954" "0" "c.3954C>A" "r.(?)" "p.(His1318Gln)" "" "0000857288" "00000135" "50" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Gly387Ser)" "" "0000906214" "00000135" "50" "2019" "0" "2019" "0" "c.2019G>C" "r.(?)" "p.(Arg673Ser)" "" "0000931567" "00000135" "70" "2213" "-1" "2213" "-1" "c.2213-1G>A" "r.spl" "p.?" "" "0000954978" "00000135" "70" "3556" "-948" "3868" "-594" "c.3556-948_3868-594del" "r.spl" "p.?" "" "0000973646" "00000135" "30" "3336" "9" "3336" "9" "c.3336+9G>C" "r.(=)" "p.(=)" "" "0000973647" "00000135" "30" "2577" "9" "2577" "9" "c.2577+9G>A" "r.(=)" "p.(=)" "" "0000973648" "00000135" "50" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Ala469Val)" "" "0001024112" "00000135" "50" "1580" "0" "1580" "0" "c.1580C>T" "r.(?)" "p.(Pro527Leu)" "" "0001045644" "00000135" "70" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Cys)" "" "0001049526" "00000135" "50" "304" "5" "304" "5" "c.304+5G>T" "r.spl?" "p.?" "" "0001050432" "00000135" "50" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232Gln)" "" "0001050433" "00000135" "50" "214" "0" "214" "0" "c.214del" "r.(?)" "p.(Thr72Leufs*19)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000000019" "0000000135" "0000050632" "0000079612" "0000050632" "0000079699" "0000095555" "0000154120" "0000290892" "0000647581" "0000305312" "0000669000" "0000328184" "0000000135" "0000333341" "0000730912" "0000364100" "0000764854" "0000364101" "0000764855" "0000364102" "0000764856" "0000364103" "0000764857" "0000364104" "0000764858" "0000364105" "0000764859" "0000364106" "0000764860" "0000364107" "0000764861" "0000364108" "0000764862" "0000364392" "0000765172" "0000364393" "0000765173" "0000375649" "0000787000" "0000376017" "0000787368" "0000386751" "0000814431" "0000391668" "0000821616" "0000428411" "0000906214" "0000436889" "0000931567" "0000446625" "0000954978" "0000469255" "0001049526"