### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HIVEP2) # 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}}" "HIVEP2" "human immunodeficiency virus type I enhancer binding protein 2" "6" "q23-q24" "unknown" "NG_047004.1" "UD_132612538347" "" "https://www.LOVD.nl/HIVEP2" "" "1" "4921" "3097" "143054" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/HIVEP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-26 19:46:56" "00000" "2025-05-05 21:14:00" ## 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}}" "00009418" "HIVEP2" "human immunodeficiency virus type I enhancer binding protein 2" "001" "NM_006734.3" "" "NP_006725.3" "" "" "" "-743" "8981" "7341" "143266338" "143072604" "" "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" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05532" "MRD" "mental retardation, autosomal dominant (MRD, intellectual disability (IDD))" "" "" "" "autosomal dominant" "" "00006" "2018-12-18 09:20:18" "00006" "2018-12-18 09:24:21" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06694" "MRD43" "Mental retardation, autosomal dominant 43" "AD" "616977" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HIVEP2" "06694" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00019907" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" "" "00038503" "" "" "" "1" "" "01291" "{PMID:Srivastava 2016:26153216}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "" "" "0" "" "" "white" "Pat1" "00038504" "" "" "" "1" "" "01291" "{PMID:Srivastava 2016:26153216}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Germany" "" "0" "" "" "" "Pat2" "00038505" "" "" "" "1" "" "01291" "{PMID:Srivastava 2016:26153216}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Germany" "" "0" "" "" "" "Pat3" "00146564" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00334919" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "175865" "00390641" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "186648" "00438335" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat53" "00438572" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0020" "00458255" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00458524" "" "" "" "1" "" "00006" "{PMID:Devanna 2018:30097719}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "Pat1" "00462300" "" "" "" "1" "" "00006" "{PMID:Boissel 2017:29261186}" "analysis 101 stillborn fetuses with severe prenatal anoalies" "" "" "Canada" "0d" "0" "" "" "" "051-039-KUY" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00019907" "00139" "00038503" "00198" "00038504" "00198" "00038505" "00198" "00146564" "00198" "00334919" "05532" "00390641" "05532" "00438335" "04270" "00438572" "06906" "00458255" "05611" "00458524" "00139" "00462300" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04270, 05532, 05611, 06694, 06906 ## Count = 11 "{{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}}" "0000020355" "00139" "00019907" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029029" "00198" "00038503" "01291" "Isolated (sporadic)" "03y" "see paper; ..., intellectual disability, hypotonia, thin corpus callosum, physiological jaundice, left hip dysplasia requiring placement in harness for several months." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000029030" "00198" "00038504" "01291" "Isolated (sporadic)" "00y17m" "see paper; ..., intellectual disability, hypotonia, corpus callosum hypoplasia" "" "" "" "" "" "" "" "" "" "" "" "0000029031" "00198" "00038505" "01291" "Isolated (sporadic)" "21y" "see paper; ..., intellectual disability, hypotonia, slight microcephaly, mild frontal atrophy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000119305" "00198" "00146564" "01807" "Unknown" "" "HP:0001256 (Intellectual disability, mild)" "" "" "" "" "" "" "" "" "" "" "" "0000252690" "05532" "00334919" "01164" "Unknown" "04y" "(+) Behavioral abnormality,(+) Delayed speech and language development,(+) Hyperactivity,(+) Constipation,(+) Attention deficit hyperactivity disorder,(+) Abnormal social behavior; brother also affected, not tested yet" "" "" "" "" "" "" "" "" "" "" "" "0000284177" "05532" "00390641" "01164" "Isolated (sporadic)" "14y" "Thick lower lip vermilion, Flared nostrils, Hyperopic astigmatism, Strabismus, Deeply set eye, Thick eyebrow, Stereotypy, Global developmental delay, Absent speech, Localized hirsutism, Thickened ears, Delayed ability to walk, Recurrent hand flapping" "" "" "" "" "" "" "" "" "" "" "" "0000328239" "04270" "00438335" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0011747 abnormality of the anterior pituitary; HP:0011756 posterior pituitary agenesis; HP:0001263 global developmental delay; HP:0002133 status epilepticus; HP:0012387 bronchitis; HP:0002573 hematochezia; HP:0001903 anemia; HP:0004360 abnormality of acid-base homeostasis; HP:0003073 hypoalbuminemia" "1y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328475" "06906" "00438572" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000346691" "05611" "00458255" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0000271" "" "" "" "" "" "" "" "" "MRD43" "neurodevelopmental disorder" "" "0000349799" "00198" "00462300" "00006" "Unknown" "" "20gw-triventriculomegaly, occipital encephalocele" "" "" "" "" "" "" "" "" "" "cerebral anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019899" "00019907" "1" "00705" "00705" "2014-09-17 09:57:28" "" "" "SEQ" "DNA" "" "" "0000038737" "00038503" "1" "01291" "01291" "2015-05-09 20:24:14" "" "" "SEQ-NG" "DNA" "" "" "0000038738" "00038504" "1" "01291" "01291" "2015-05-09 20:56:09" "" "" "SEQ-NG" "DNA" "" "" "0000038739" "00038505" "1" "01291" "01291" "2015-05-09 21:01:21" "" "" "SEQ-NG" "DNA" "" "" "0000147419" "00146564" "0" "01807" "01807" "2017-12-29 11:40:17" "" "" "SEQ" "DNA" "" "" "0000336149" "00334919" "1" "01164" "01164" "2021-03-02 13:24:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000391882" "00390641" "1" "01164" "01164" "2021-11-11 11:36:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000439817" "00438335" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440054" "00438572" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000459877" "00458255" "1" "03544" "03544" "2024-12-11 09:46:41" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000460146" "00458524" "1" "00006" "00006" "2024-12-16 11:05:56" "00006" "2024-12-16 11:12:36" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000463932" "00462300" "1" "00006" "00006" "2025-02-09 09:45:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000019899" "HIVEP2" "0000038737" "HIVEP2" "0000038738" "HIVEP2" "0000038739" "HIVEP2" "0000336149" "HIVEP2" "0000391882" "HIVEP2" ## 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 = 97 "{{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}}" "0000040384" "0" "30" "6" "143092683" "143092683" "subst" "0" "00705" "HIVEP2_000001" "g.143092683C>T" "" "{PMID:Gilissen 2014:24896178}" "" "" "" "De novo" "" "" "0" "" "" "g.142771546C>T" "" "likely benign" "" "0000066399" "0" "70" "6" "143093049" "143093049" "subst" "0" "01291" "HIVEP2_000004" "g.143093049G>A" "" "{PMID:Srivastava 2016:26153216}" "" "" "" "De novo" "" "" "0" "" "" "g.142771912G>A" "" "likely pathogenic (dominant)" "" "0000066400" "0" "70" "6" "143092320" "143092320" "subst" "0" "01291" "HIVEP2_000003" "g.143092320G>A" "" "{PMID:Srivastava 2016:26153216}" "" "" "" "De novo" "" "" "0" "" "" "g.142771183G>A" "" "likely pathogenic (dominant)" "" "0000066401" "0" "70" "6" "143081688" "143081688" "del" "0" "01291" "HIVEP2_000002" "g.143081688del" "" "{PMID:Srivastava 2016:26153216}" "" "5737delG" "" "De novo" "" "" "0" "" "" "g.142760551del" "" "likely pathogenic (dominant)" "" "0000240216" "0" "90" "6" "143074970" "143074977" "del" "0" "01807" "HIVEP2_000005" "g.143074970_143074977del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.142753833_142753840del" "" "pathogenic" "" "0000248819" "0" "10" "6" "143091263" "143091263" "subst" "0.971832" "02325" "HIVEP2_000008" "g.143091263A>G" "" "" "" "HIVEP2(NM_006734.4):c.4613T>C (p.L1538P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142770126A>G" "" "benign" "" "0000281303" "0" "10" "6" "143091769" "143091769" "subst" "0.158571" "02325" "HIVEP2_000009" "g.143091769G>A" "" "" "" "HIVEP2(NM_006734.4):c.4107C>T (p.V1369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142770632G>A" "" "benign" "" "0000281304" "0" "10" "6" "143090734" "143090734" "subst" "0.159787" "02325" "HIVEP2_000007" "g.143090734T>C" "" "" "" "HIVEP2(NM_006734.4):c.5142A>G (p.G1714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142769597T>C" "" "benign" "" "0000281305" "0" "10" "6" "143074700" "143074700" "subst" "0.685349" "02325" "HIVEP2_000006" "g.143074700T>C" "" "" "" "HIVEP2(NM_006734.4):c.6885A>G (p.P2295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142753563T>C" "" "benign" "" "0000289066" "0" "70" "6" "143092446" "143092446" "del" "0" "01943" "HIVEP2_000010" "g.143092446del" "" "" "" "HIVEP2(NM_006734.3):c.3434delC (p.P1145Rfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142771309del" "" "likely pathogenic" "" "0000346464" "0" "30" "6" "143094705" "143094705" "subst" "4.06141E-6" "02327" "HIVEP2_000016" "g.143094705G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142773568G>A" "" "likely benign" "" "0000346949" "0" "30" "6" "143089636" "143089636" "subst" "8.14286E-6" "02327" "HIVEP2_000014" "g.143089636A>C" "" "" "" "HIVEP2(NM_006734.3):c.5225T>G (p.(Leu1742Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142768499A>C" "" "likely benign" "" "0000349378" "0" "30" "6" "143074596" "143074596" "subst" "0" "02327" "HIVEP2_000012" "g.143074596G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142753459G>T" "" "likely benign" "" "0000527352" "0" "30" "6" "143081533" "143081533" "subst" "0.000296495" "01943" "HIVEP2_000017" "g.143081533T>C" "" "" "" "HIVEP2(NM_006734.3):c.5892A>G (p.G1964=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142760396T>C" "" "likely benign" "" "0000527353" "0" "30" "6" "143081572" "143081572" "subst" "2.4375E-5" "01943" "HIVEP2_000018" "g.143081572G>A" "" "" "" "HIVEP2(NM_006734.3):c.5853C>T (p.G1951=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142760435G>A" "" "likely benign" "" "0000527355" "0" "10" "6" "143086057" "143086057" "subst" "0.00202349" "01943" "HIVEP2_000020" "g.143086057G>A" "" "" "" "HIVEP2(NM_006734.3):c.5397C>T (p.Y1799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142764920G>A" "" "benign" "" "0000527356" "0" "30" "6" "143091047" "143091047" "subst" "8.13015E-6" "01943" "HIVEP2_000021" "g.143091047C>T" "" "" "" "HIVEP2(NM_006734.3):c.4829G>A (p.R1610H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142769910C>T" "" "likely benign" "" "0000527357" "0" "10" "6" "143091736" "143091736" "subst" "0.00176664" "01943" "HIVEP2_000022" "g.143091736G>A" "" "" "" "HIVEP2(NM_006734.3):c.4140C>T (p.T1380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142770599G>A" "" "benign" "" "0000527358" "0" "10" "6" "143092432" "143092432" "subst" "0.00208168" "01943" "HIVEP2_000023" "g.143092432C>G" "" "" "" "HIVEP2(NM_006734.3):c.3444G>C (p.S1148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142771295C>G" "" "benign" "" "0000527359" "0" "70" "6" "143092464" "143092464" "subst" "0" "01943" "HIVEP2_000024" "g.143092464G>A" "" "" "" "HIVEP2(NM_006734.3):c.3412C>T (p.Q1138*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142771327G>A" "" "likely pathogenic" "" "0000527360" "0" "30" "6" "143093092" "143093092" "subst" "0.000320875" "01943" "HIVEP2_000025" "g.143093092G>C" "" "" "" "HIVEP2(NM_006734.3):c.2784C>G (p.S928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142771955G>C" "" "likely benign" "" "0000527363" "0" "30" "6" "143094843" "143094843" "subst" "0.00502921" "02325" "HIVEP2_000028" "g.143094843T>C" "" "" "" "HIVEP2(NM_006734.4):c.1033A>G (p.I345V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142773706T>C" "" "likely benign" "" "0000527364" "0" "50" "6" "143095100" "143095100" "subst" "0.000840841" "01943" "HIVEP2_000029" "g.143095100T>C" "" "" "" "HIVEP2(NM_006734.3):c.776A>G (p.D259G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142773963T>C" "" "VUS" "" "0000527365" "0" "30" "6" "143095564" "143095564" "subst" "0.000324878" "01943" "HIVEP2_000030" "g.143095564T>C" "" "" "" "HIVEP2(NM_006734.3):c.312A>G (p.S104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142774427T>C" "" "likely benign" "" "0000610063" "0" "50" "6" "143091155" "143091155" "subst" "0" "01943" "HIVEP2_000031" "g.143091155G>C" "" "" "" "HIVEP2(NM_006734.3):c.4721C>G (p.T1574R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142770018G>C" "" "VUS" "" "0000610064" "0" "30" "6" "143091222" "143091222" "subst" "0.000438629" "01943" "HIVEP2_000032" "g.143091222G>A" "" "" "" "HIVEP2(NM_006734.3):c.4654C>T (p.P1552S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142770085G>A" "" "likely benign" "" "0000610065" "0" "30" "6" "143091919" "143091919" "subst" "0.000398028" "01943" "HIVEP2_000033" "g.143091919G>C" "" "" "" "HIVEP2(NM_006734.3):c.3957C>G (p.A1319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142770782G>C" "" "likely benign" "" "0000610066" "0" "30" "6" "143093343" "143093343" "subst" "4.06138E-6" "01943" "HIVEP2_000034" "g.143093343G>A" "" "" "" "HIVEP2(NM_006734.3):c.2533C>T (p.P845S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142772206G>A" "" "likely benign" "" "0000610067" "0" "30" "6" "143094273" "143094273" "subst" "0" "01804" "HIVEP2_000035" "g.143094273C>T" "" "" "" "HIVEP2(NM_006734.3):c.1603G>A (p.(Val535Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142773136C>T" "" "likely benign" "" "0000610068" "0" "50" "6" "143094909" "143094909" "subst" "8.12817E-6" "01804" "HIVEP2_000037" "g.143094909T>C" "" "" "" "HIVEP2(NM_006734.3):c.967A>G (p.(Met323Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142773772T>C" "" "VUS" "" "0000610069" "0" "30" "6" "143095618" "143095618" "subst" "0.000471051" "01943" "HIVEP2_000038" "g.143095618C>T" "" "" "" "HIVEP2(NM_006734.3):c.258G>A (p.P86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142774481C>T" "" "likely benign" "" "0000621645" "0" "30" "6" "143094706" "143094706" "subst" "0.000280249" "01943" "HIVEP2_000036" "g.143094706C>T" "" "" "" "HIVEP2(NM_006734.3):c.1170G>A (p.P390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142773569C>T" "" "likely benign" "" "0000655497" "0" "70" "6" "143094663" "143094663" "subst" "0" "02327" "HIVEP2_000039" "g.143094663C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142773526C>T" "" "likely pathogenic" "" "0000677643" "0" "50" "6" "143081004" "143081004" "subst" "4.06273E-6" "01943" "HIVEP2_000040" "g.143081004T>C" "" "" "" "HIVEP2(NM_006734.3):c.6421A>G (p.I2141V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677644" "0" "50" "6" "143081428" "143081428" "subst" "0" "02325" "HIVEP2_000041" "g.143081428C>G" "" "" "" "HIVEP2(NM_006734.4):c.5997G>C (p.Q1999H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677645" "0" "30" "6" "143081568" "143081568" "subst" "0" "01943" "HIVEP2_000042" "g.143081568C>G" "" "" "" "HIVEP2(NM_006734.3):c.5857G>C (p.V1953L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677646" "0" "50" "6" "143093777" "143093777" "subst" "0" "01804" "HIVEP2_000043" "g.143093777T>A" "" "" "" "HIVEP2(NM_006734.3):c.2099A>T (p.(Glu700Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720695" "0" "90" "6" "143081436" "143081436" "subst" "0" "01943" "HIVEP2_000044" "g.143081436C>A" "" "" "" "HIVEP2(NM_006734.3):c.5989G>T (p.E1997*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720696" "0" "50" "6" "143081466" "143081466" "subst" "0" "01943" "HIVEP2_000045" "g.143081466T>A" "" "" "" "HIVEP2(NM_006734.3):c.5959A>T (p.S1987C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720697" "0" "90" "6" "143082639" "143082639" "subst" "0" "02329" "HIVEP2_000019" "g.143082639G>T" "" "" "" "HIVEP2(NM_006734.4):c.5582C>A (p.S1861*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720698" "0" "30" "6" "143091391" "143091391" "subst" "1.62439E-5" "01943" "HIVEP2_000046" "g.143091391C>T" "" "" "" "HIVEP2(NM_006734.3):c.4485G>A (p.L1495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720699" "0" "30" "6" "143093152" "143093152" "subst" "0" "01943" "HIVEP2_000047" "g.143093152G>A" "" "" "" "HIVEP2(NM_006734.3):c.2724C>T (p.S908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720700" "0" "30" "6" "143094568" "143094568" "subst" "0.000231483" "01943" "HIVEP2_000048" "g.143094568A>G" "" "" "" "HIVEP2(NM_006734.3):c.1308T>C (p.N436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720701" "0" "70" "6" "143094681" "143094681" "subst" "0" "02329" "HIVEP2_000011" "g.143094681C>G" "" "" "" "HIVEP2(NM_006734.4):c.1195G>C (p.G399R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720702" "0" "30" "6" "143095472" "143095472" "subst" "0.000349287" "02325" "HIVEP2_000049" "g.143095472G>C" "" "" "" "HIVEP2(NM_006734.4):c.404C>G (p.S135C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000735243" "0" "50" "6" "143080941" "143080943" "del" "0" "01164" "HIVEP2_000050" "g.143080941_143080943del" "" "" "" "" "ACMG: PM4, PM2_SUP, PP3: class 3" "Germline" "?" "" "" "" "" "" "" "VUS (!)" "ACMG" "0000802337" "0" "30" "6" "143074549" "143074549" "subst" "0.00271828" "02325" "HIVEP2_000051" "g.143074549G>A" "" "" "" "HIVEP2(NM_006734.4):c.7036C>T (p.L2346F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802338" "0" "50" "6" "143081591" "143081591" "subst" "0" "02325" "HIVEP2_000052" "g.143081591G>A" "" "" "" "HIVEP2(NM_006734.4):c.5834C>T (p.S1945F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802339" "0" "30" "6" "143085994" "143085994" "subst" "0" "01943" "HIVEP2_000053" "g.143085994G>T" "" "" "" "HIVEP2(NM_006734.3):c.5460C>A (p.T1820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000821949" "0" "90" "6" "143093049" "143093049" "subst" "0" "01164" "HIVEP2_000004" "g.143093049G>A" "" "PMID: 26153216" "" "" "ACMG: PVS1, PS2, PS4_MOD, PM2_SUP" "De novo" "?" "" "" "" "" "" "VCV000224791.12" "pathogenic (dominant)" "ACMG" "0000851092" "0" "50" "6" "143094143" "143094143" "subst" "0" "02327" "HIVEP2_000055" "g.143094143T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860186" "0" "30" "6" "143093697" "143093697" "subst" "3.65559E-5" "02325" "HIVEP2_000054" "g.143093697C>T" "" "" "" "HIVEP2(NM_006734.4):c.2179G>A (p.D727N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860187" "0" "30" "6" "143094536" "143094536" "subst" "6.09127E-5" "01943" "HIVEP2_000056" "g.143094536C>T" "" "" "" "HIVEP2(NM_006734.3):c.1340G>A (p.R447H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887065" "0" "50" "6" "143075073" "143075073" "subst" "0" "02329" "HIVEP2_000057" "g.143075073G>C" "" "" "" "HIVEP2(NM_006734.4):c.6517-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887066" "0" "50" "6" "143091026" "143091026" "subst" "8.12803E-6" "02325" "HIVEP2_000058" "g.143091026C>G" "" "" "" "HIVEP2(NM_006734.4):c.4850G>C (p.G1617A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887067" "0" "50" "6" "143091179" "143091179" "subst" "4.06266E-6" "02325" "HIVEP2_000059" "g.143091179G>A" "" "" "" "HIVEP2(NM_006734.4):c.4697C>T (p.S1566L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887068" "0" "50" "6" "143091389" "143091389" "subst" "4.06101E-6" "02325" "HIVEP2_000060" "g.143091389A>T" "" "" "" "HIVEP2(NM_006734.4):c.4487T>A (p.V1496D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887069" "0" "50" "6" "143092874" "143092874" "subst" "1.21831E-5" "02325" "HIVEP2_000061" "g.143092874C>T" "" "" "" "HIVEP2(NM_006734.4):c.3002G>A (p.G1001E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887070" "0" "90" "6" "143095263" "143095263" "dup" "0" "02327" "HIVEP2_000062" "g.143095263dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887071" "0" "30" "6" "143095682" "143095682" "subst" "0.00220102" "02325" "HIVEP2_000063" "g.143095682C>A" "" "" "" "HIVEP2(NM_006734.4):c.194G>T (p.G65V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912412" "0" "50" "6" "143090933" "143090933" "subst" "0" "02329" "HIVEP2_000064" "g.143090933C>T" "" "" "" "HIVEP2(NM_006734.4):c.4943G>A (p.S1648N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000935946" "0" "70" "6" "143092809" "143092809" "subst" "0" "00006" "HIVEP2_000066" "g.143092809G>A" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.142771672G>A" "" "likely pathogenic (dominant)" "ACMG" "0000936372" "0" "90" "6" "143074714" "143074714" "subst" "0" "00006" "HIVEP2_000065" "g.143074714G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_006734:c.C6871T (Q2291X)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000948664" "0" "30" "6" "143095710" "143095710" "subst" "4.06085E-5" "02325" "HIVEP2_000067" "g.143095710C>T" "" "" "" "HIVEP2(NM_006734.3):c.166G>A (p.(Gly56Arg)), HIVEP2(NM_006734.4):c.166G>A (p.G56R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963849" "0" "50" "6" "143093429" "143093429" "subst" "0" "02325" "HIVEP2_000068" "g.143093429C>T" "" "" "" "HIVEP2(NM_006734.4):c.2447G>A (p.R816K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977010" "0" "50" "6" "143081559" "143081559" "subst" "1.21859E-5" "01804" "HIVEP2_000069" "g.143081559C>T" "" "" "" "HIVEP2(NM_006734.4):c.5866G>A (p.(Gly1956Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977011" "0" "30" "6" "143095616" "143095616" "subst" "0" "01804" "HIVEP2_000070" "g.143095616T>A" "" "" "" "HIVEP2(NM_006734.4):c.260A>T (p.(His87Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995358" "0" "30" "6" "143074362" "143074362" "subst" "2.44075E-5" "01804" "HIVEP2_000071" "g.143074362G>A" "" "" "" "HIVEP2(NM_006734.3):c.7223C>T (p.(Thr2408Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995359" "0" "50" "6" "143074429" "143074429" "subst" "0" "01804" "HIVEP2_000072" "g.143074429G>A" "" "" "" "HIVEP2(NM_006734.3):c.7156C>T (p.(His2386Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995360" "0" "30" "6" "143074827" "143074827" "subst" "4.06375E-6" "01804" "HIVEP2_000073" "g.143074827A>G" "" "" "" "HIVEP2(NM_006734.3):c.6758T>C (p.(Leu2253Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995361" "0" "50" "6" "143080947" "143080947" "subst" "0" "01804" "HIVEP2_000074" "g.143080947G>C" "" "" "" "HIVEP2(NM_006734.3):c.6478C>G (p.(Gln2160Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995362" "0" "30" "6" "143081568" "143081568" "subst" "2.84361E-5" "01804" "HIVEP2_000075" "g.143081568C>T" "" "" "" "HIVEP2(NM_006734.3):c.5857G>A (p.(Val1953Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995363" "0" "50" "6" "143089636" "143089636" "subst" "8.14286E-6" "01804" "HIVEP2_000014" "g.143089636A>C" "" "" "" "HIVEP2(NM_006734.3):c.5225T>G (p.(Leu1742Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995364" "0" "50" "6" "143090937" "143090937" "subst" "0" "01804" "HIVEP2_000076" "g.143090937C>T" "" "" "" "HIVEP2(NM_006734.3):c.4939G>A (p.(Val1647Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995365" "0" "30" "6" "143091240" "143091240" "subst" "2.03062E-5" "01804" "HIVEP2_000077" "g.143091240C>T" "" "" "" "HIVEP2(NM_006734.3):c.4636G>A (p.(Gly1546Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995366" "0" "30" "6" "143091622" "143091622" "subst" "2.43675E-5" "01804" "HIVEP2_000078" "g.143091622T>G" "" "" "" "HIVEP2(NM_006734.3):c.4254A>C (p.(Glu1418Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995367" "0" "50" "6" "143091853" "143091853" "subst" "8.12367E-6" "01804" "HIVEP2_000079" "g.143091853G>C" "" "" "" "HIVEP2(NM_006734.3):c.4023C>G (p.(His1341Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995368" "0" "30" "6" "143092217" "143092217" "subst" "8.12315E-6" "01804" "HIVEP2_000080" "g.143092217G>A" "" "" "" "HIVEP2(NM_006734.3):c.3659C>T (p.(Ala1220Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995369" "0" "30" "6" "143092493" "143092493" "subst" "2.86808E-5" "01804" "HIVEP2_000081" "g.143092493G>A" "" "" "" "HIVEP2(NM_006734.3):c.3383C>T (p.(Pro1128Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995370" "0" "30" "6" "143092682" "143092682" "subst" "0" "01804" "HIVEP2_000082" "g.143092682G>A" "" "" "" "HIVEP2(NM_006734.3):c.3194C>T (p.(Ala1065Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995371" "0" "50" "6" "143093193" "143093193" "subst" "0" "01804" "HIVEP2_000083" "g.143093193C>T" "" "" "" "HIVEP2(NM_006734.3):c.2683G>A (p.(Glu895Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995372" "0" "30" "6" "143093570" "143093570" "subst" "1.21837E-5" "01804" "HIVEP2_000084" "g.143093570C>A" "" "" "" "HIVEP2(NM_006734.3):c.2306G>T (p.(Ser769Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995373" "0" "50" "6" "143093720" "143093720" "subst" "4.06141E-6" "01804" "HIVEP2_000085" "g.143093720G>A" "" "" "" "HIVEP2(NM_006734.3):c.2156C>T (p.(Thr719Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995374" "0" "30" "6" "143094420" "143094420" "subst" "4.46693E-5" "01804" "HIVEP2_000086" "g.143094420C>T" "" "" "" "HIVEP2(NM_006734.3):c.1456G>A (p.(Asp486Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995375" "0" "50" "6" "143095470" "143095470" "subst" "0" "01804" "HIVEP2_000087" "g.143095470C>T" "" "" "" "HIVEP2(NM_006734.3):c.406G>A (p.(Glu136Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995376" "0" "30" "6" "143095664" "143095664" "subst" "0" "01804" "HIVEP2_000088" "g.143095664G>A" "" "" "" "HIVEP2(NM_006734.3):c.212C>T (p.(Ser71Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995377" "0" "30" "6" "143095710" "143095710" "subst" "4.06085E-5" "01804" "HIVEP2_000067" "g.143095710C>T" "" "" "" "HIVEP2(NM_006734.3):c.166G>A (p.(Gly56Arg)), HIVEP2(NM_006734.4):c.166G>A (p.G56R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995378" "0" "50" "6" "143095771" "143095771" "subst" "0" "01804" "HIVEP2_000089" "g.143095771C>G" "" "" "" "HIVEP2(NM_006734.3):c.105G>C (p.(Lys35Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995379" "0" "30" "6" "143095874" "143095874" "subst" "8.1487E-6" "02326" "HIVEP2_000090" "g.143095874A>G" "" "" "" "HIVEP2(NM_006734.3):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001018817" "0" "70" "6" "143094114" "143094114" "subst" "4.06154E-6" "03544" "HIVEP2_000091" "g.143094114G>A" "" "" "" "" "" "De novo" "-" "rs774619626" "0" "" "" "g.142772977G>A" "{CV:3387774}" "likely pathogenic" "ACMG" "0001019118" "0" "50" "6" "143092683" "143092683" "subst" "0" "00006" "HIVEP2_000001" "g.143092683C>T" "" "{PMID:Devanna 2018:30097719}" "" "" "variant not associated with henotype" "De novo" "" "" "0" "" "" "g.142771546C>T" "" "VUS" "" "0001025177" "0" "50" "6" "143092508" "143092508" "subst" "1.22987E-5" "02325" "HIVEP2_000092" "g.143092508G>A" "" "" "" "HIVEP2(NM_006734.4):c.3368C>T (p.P1123L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027552" "0" "90" "6" "143092905" "143092908" "del" "0" "00006" "HIVEP2_000093" "g.143092905_143092908del" "" "{PMID:Boissel 2017:29261186}" "" "" "" "De novo" "" "" "0" "" "" "g.142771768_142771771del" "" "pathogenic (dominant)" "" "0001035503" "0" "30" "6" "143081401" "143081401" "subst" "2.43992E-5" "01804" "HIVEP2_000094" "g.143081401G>C" "" "" "" "HIVEP2(NM_006734.4):c.6024C>G (p.(Asp2008Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035504" "0" "50" "6" "143091798" "143091798" "del" "0" "01804" "HIVEP2_000095" "g.143091798del" "" "" "" "HIVEP2(NM_006734.4):c.4079del (p.(Asn1360Ilefs*14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035505" "0" "30" "6" "143094791" "143094791" "subst" "5.28035E-5" "01804" "HIVEP2_000096" "g.143094791G>A" "" "" "" "HIVEP2(NM_006734.4):c.1085C>T (p.(Ser362Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035506" "0" "30" "6" "143106268" "143106268" "subst" "0" "01804" "HIVEP2_000097" "g.143106268C>T" "" "" "" "HIVEP2(NM_006734.4):c.-527-1516G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 HIVEP2 ## Count = 97 "{{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}}" "0000040384" "00009418" "30" "3193" "0" "3193" "0" "c.3193G>A" "r.(?)" "p.(Ala1065Thr)" "5" "0000066399" "00009418" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943*)" "" "0000066400" "00009418" "70" "3556" "0" "3556" "0" "c.3556C>T" "r.(?)" "p.(Gln1186*)" "" "0000066401" "00009418" "70" "5737" "0" "5737" "0" "c.5737del" "r.(?)" "p.(Asp1913Metfs*15)" "" "0000240216" "00009418" "90" "6609" "0" "6616" "0" "c.6609_6616del" "r.(?)" "p.(Glu2204*)" "" "0000248819" "00009418" "10" "4613" "0" "4613" "0" "c.4613T>C" "r.(?)" "p.(Leu1538Pro)" "" "0000281303" "00009418" "10" "4107" "0" "4107" "0" "c.4107C>T" "r.(?)" "p.(Val1369=)" "" "0000281304" "00009418" "10" "5142" "0" "5142" "0" "c.5142A>G" "r.(?)" "p.(Gly1714=)" "" "0000281305" "00009418" "10" "6885" "0" "6885" "0" "c.6885A>G" "r.(?)" "p.(Pro2295=)" "" "0000289066" "00009418" "70" "3434" "0" "3434" "0" "c.3434del" "r.(?)" "p.(Pro1145ArgfsTer2)" "" "0000346464" "00009418" "30" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(His391Tyr)" "" "0000346949" "00009418" "30" "5225" "0" "5225" "0" "c.5225T>G" "r.(?)" "p.(Leu1742Arg)" "" "0000349378" "00009418" "30" "6989" "0" "6989" "0" "c.6989C>A" "r.(?)" "p.(Thr2330Lys)" "" "0000527352" "00009418" "30" "5892" "0" "5892" "0" "c.5892A>G" "r.(?)" "p.(Gly1964=)" "" "0000527353" "00009418" "30" "5853" "0" "5853" "0" "c.5853C>T" "r.(?)" "p.(Gly1951=)" "" "0000527355" "00009418" "10" "5397" "0" "5397" "0" "c.5397C>T" "r.(?)" "p.(Tyr1799=)" "" "0000527356" "00009418" "30" "4829" "0" "4829" "0" "c.4829G>A" "r.(?)" "p.(Arg1610His)" "" "0000527357" "00009418" "10" "4140" "0" "4140" "0" "c.4140C>T" "r.(?)" "p.(Thr1380=)" "" "0000527358" "00009418" "10" "3444" "0" "3444" "0" "c.3444G>C" "r.(?)" "p.(Ser1148=)" "" "0000527359" "00009418" "70" "3412" "0" "3412" "0" "c.3412C>T" "r.(?)" "p.(Gln1138Ter)" "" "0000527360" "00009418" "30" "2784" "0" "2784" "0" "c.2784C>G" "r.(?)" "p.(Ser928=)" "" "0000527363" "00009418" "30" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.(Ile345Val)" "" "0000527364" "00009418" "50" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Asp259Gly)" "" "0000527365" "00009418" "30" "312" "0" "312" "0" "c.312A>G" "r.(?)" "p.(Ser104=)" "" "0000610063" "00009418" "50" "4721" "0" "4721" "0" "c.4721C>G" "r.(?)" "p.(Thr1574Arg)" "" "0000610064" "00009418" "30" "4654" "0" "4654" "0" "c.4654C>T" "r.(?)" "p.(Pro1552Ser)" "" "0000610065" "00009418" "30" "3957" "0" "3957" "0" "c.3957C>G" "r.(?)" "p.(Ala1319=)" "" "0000610066" "00009418" "30" "2533" "0" "2533" "0" "c.2533C>T" "r.(?)" "p.(Pro845Ser)" "" "0000610067" "00009418" "30" "1603" "0" "1603" "0" "c.1603G>A" "r.(?)" "p.(Val535Ile)" "" "0000610068" "00009418" "50" "967" "0" "967" "0" "c.967A>G" "r.(?)" "p.(Met323Val)" "" "0000610069" "00009418" "30" "258" "0" "258" "0" "c.258G>A" "r.(?)" "p.(Pro86=)" "" "0000621645" "00009418" "30" "1170" "0" "1170" "0" "c.1170G>A" "r.(?)" "p.(Pro390=)" "" "0000655497" "00009418" "70" "1213" "0" "1213" "0" "c.1213G>A" "r.(?)" "p.(Glu405Lys)" "" "0000677643" "00009418" "50" "6421" "0" "6421" "0" "c.6421A>G" "r.(?)" "p.(Ile2141Val)" "" "0000677644" "00009418" "50" "5997" "0" "5997" "0" "c.5997G>C" "r.(?)" "p.(Gln1999His)" "" "0000677645" "00009418" "30" "5857" "0" "5857" "0" "c.5857G>C" "r.(?)" "p.(Val1953Leu)" "" "0000677646" "00009418" "50" "2099" "0" "2099" "0" "c.2099A>T" "r.(?)" "p.(Glu700Val)" "" "0000720695" "00009418" "90" "5989" "0" "5989" "0" "c.5989G>T" "r.(?)" "p.(Glu1997*)" "" "0000720696" "00009418" "50" "5959" "0" "5959" "0" "c.5959A>T" "r.(?)" "p.(Ser1987Cys)" "" "0000720697" "00009418" "90" "5582" "0" "5582" "0" "c.5582C>A" "r.(?)" "p.(Ser1861Ter)" "" "0000720698" "00009418" "30" "4485" "0" "4485" "0" "c.4485G>A" "r.(?)" "p.(Leu1495=)" "" "0000720699" "00009418" "30" "2724" "0" "2724" "0" "c.2724C>T" "r.(?)" "p.(Ser908=)" "" "0000720700" "00009418" "30" "1308" "0" "1308" "0" "c.1308T>C" "r.(?)" "p.(Asn436=)" "" "0000720701" "00009418" "70" "1195" "0" "1195" "0" "c.1195G>C" "r.(?)" "p.(Gly399Arg)" "" "0000720702" "00009418" "30" "404" "0" "404" "0" "c.404C>G" "r.(?)" "p.(Ser135Cys)" "" "0000735243" "00009418" "50" "6482" "0" "6484" "0" "c.6482_6484del" "r.(?)" "p.(Tyr2161del)" "" "0000802337" "00009418" "30" "7036" "0" "7036" "0" "c.7036C>T" "r.(?)" "p.(Leu2346Phe)" "" "0000802338" "00009418" "50" "5834" "0" "5834" "0" "c.5834C>T" "r.(?)" "p.(Ser1945Phe)" "" "0000802339" "00009418" "30" "5460" "0" "5460" "0" "c.5460C>A" "r.(?)" "p.(Thr1820=)" "" "0000821949" "00009418" "90" "2827" "0" "2827" "0" "c.2827C>T" "r.?" "p.(Arg943*)" "" "0000851092" "00009418" "50" "1733" "0" "1733" "0" "c.1733A>T" "r.(?)" "p.(Tyr578Phe)" "" "0000860186" "00009418" "30" "2179" "0" "2179" "0" "c.2179G>A" "r.(?)" "p.(Asp727Asn)" "" "0000860187" "00009418" "30" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447His)" "" "0000887065" "00009418" "50" "6517" "-5" "6517" "-5" "c.6517-5C>G" "r.spl?" "p.?" "" "0000887066" "00009418" "50" "4850" "0" "4850" "0" "c.4850G>C" "r.(?)" "p.(Gly1617Ala)" "" "0000887067" "00009418" "50" "4697" "0" "4697" "0" "c.4697C>T" "r.(?)" "p.(Ser1566Leu)" "" "0000887068" "00009418" "50" "4487" "0" "4487" "0" "c.4487T>A" "r.(?)" "p.(Val1496Asp)" "" "0000887069" "00009418" "50" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Gly1001Glu)" "" "0000887070" "00009418" "90" "618" "0" "618" "0" "c.618dup" "r.(?)" "p.(His207Thrfs*38)" "" "0000887071" "00009418" "30" "194" "0" "194" "0" "c.194G>T" "r.(?)" "p.(Gly65Val)" "" "0000912412" "00009418" "50" "4943" "0" "4943" "0" "c.4943G>A" "r.(?)" "p.(Ser1648Asn)" "" "0000935946" "00009418" "70" "3067" "0" "3067" "0" "c.3067C>T" "r.(?)" "p.(His1023Tyr)" "" "0000936372" "00009418" "90" "6871" "0" "6871" "0" "c.6871C>T" "" "" "" "0000948664" "00009418" "30" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Gly56Arg)" "" "0000963849" "00009418" "50" "2447" "0" "2447" "0" "c.2447G>A" "r.(?)" "p.(Arg816Lys)" "" "0000977010" "00009418" "50" "5866" "0" "5866" "0" "c.5866G>A" "r.(?)" "p.(Gly1956Arg)" "" "0000977011" "00009418" "30" "260" "0" "260" "0" "c.260A>T" "r.(?)" "p.(His87Leu)" "" "0000995358" "00009418" "30" "7223" "0" "7223" "0" "c.7223C>T" "r.(?)" "p.(Thr2408Met)" "" "0000995359" "00009418" "50" "7156" "0" "7156" "0" "c.7156C>T" "r.(?)" "p.(His2386Tyr)" "" "0000995360" "00009418" "30" "6758" "0" "6758" "0" "c.6758T>C" "r.(?)" "p.(Leu2253Ser)" "" "0000995361" "00009418" "50" "6478" "0" "6478" "0" "c.6478C>G" "r.(?)" "p.(Gln2160Glu)" "" "0000995362" "00009418" "30" "5857" "0" "5857" "0" "c.5857G>A" "r.(?)" "p.(Val1953Ile)" "" "0000995363" "00009418" "50" "5225" "0" "5225" "0" "c.5225T>G" "r.(?)" "p.(Leu1742Arg)" "" "0000995364" "00009418" "50" "4939" "0" "4939" "0" "c.4939G>A" "r.(?)" "p.(Val1647Met)" "" "0000995365" "00009418" "30" "4636" "0" "4636" "0" "c.4636G>A" "r.(?)" "p.(Gly1546Ser)" "" "0000995366" "00009418" "30" "4254" "0" "4254" "0" "c.4254A>C" "r.(?)" "p.(Glu1418Asp)" "" "0000995367" "00009418" "50" "4023" "0" "4023" "0" "c.4023C>G" "r.(?)" "p.(His1341Gln)" "" "0000995368" "00009418" "30" "3659" "0" "3659" "0" "c.3659C>T" "r.(?)" "p.(Ala1220Val)" "" "0000995369" "00009418" "30" "3383" "0" "3383" "0" "c.3383C>T" "r.(?)" "p.(Pro1128Leu)" "" "0000995370" "00009418" "30" "3194" "0" "3194" "0" "c.3194C>T" "r.(?)" "p.(Ala1065Val)" "" "0000995371" "00009418" "50" "2683" "0" "2683" "0" "c.2683G>A" "r.(?)" "p.(Glu895Lys)" "" "0000995372" "00009418" "30" "2306" "0" "2306" "0" "c.2306G>T" "r.(?)" "p.(Ser769Ile)" "" "0000995373" "00009418" "50" "2156" "0" "2156" "0" "c.2156C>T" "r.(?)" "p.(Thr719Ile)" "" "0000995374" "00009418" "30" "1456" "0" "1456" "0" "c.1456G>A" "r.(?)" "p.(Asp486Asn)" "" "0000995375" "00009418" "50" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Glu136Lys)" "" "0000995376" "00009418" "30" "212" "0" "212" "0" "c.212C>T" "r.(?)" "p.(Ser71Phe)" "" "0000995377" "00009418" "30" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Gly56Arg)" "" "0000995378" "00009418" "50" "105" "0" "105" "0" "c.105G>C" "r.(?)" "p.(Lys35Asn)" "" "0000995379" "00009418" "30" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.?" "" "0001018817" "00009418" "70" "1762" "0" "1762" "0" "c.1762C>T" "r.(1762C>T)" "p.(Arg588Cys)" "" "0001019118" "00009418" "50" "3193" "0" "3193" "0" "c.3193G>A" "r.(?)" "p.(Ala1065Thr)" "" "0001025177" "00009418" "50" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Pro1123Leu)" "" "0001027552" "00009418" "90" "2968" "0" "2971" "0" "c.2968_2971del" "r.(?)" "p.(Lys990PhefsTer17)" "" "0001035503" "00009418" "30" "6024" "0" "6024" "0" "c.6024C>G" "r.(?)" "p.(Asp2008Glu)" "" "0001035504" "00009418" "50" "4079" "0" "4079" "0" "c.4079del" "r.(?)" "p.(Asn1360Ilefs*14)" "" "0001035505" "00009418" "30" "1085" "0" "1085" "0" "c.1085C>T" "r.(?)" "p.(Ser362Leu)" "" "0001035506" "00009418" "30" "-527" "-1516" "-527" "-1516" "c.-527-1516G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000019899" "0000040384" "0000038737" "0000066399" "0000038738" "0000066400" "0000038739" "0000066401" "0000147419" "0000240216" "0000336149" "0000735243" "0000391882" "0000821949" "0000439817" "0000935946" "0000440054" "0000936372" "0000459877" "0001018817" "0000460146" "0001019118" "0000463932" "0001027552"