### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NRAP) # 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}}" "NRAP" "nebulin-related anchoring protein" "10" "q24-q26" "unknown" "NC_000010.10" "UD_136019098151" "" "https://www.LOVD.nl/NRAP" "" "1" "7988" "4892" "602873" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/NRAP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-01-23 11:44:45" "00000" "2026-01-20 18:57:21" ## 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}}" "00025795" "NRAP" "transcript variant 2" "002" "NM_198060.3" "" "NP_932326.2" "" "" "" "-188" "5344" "5193" "115423829" "115348583" "00006" "2023-01-23 11:52:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00225584" "" "" "" "1" "" "02588" "{PMID:Truszkowska 2017:28611399}" "Proband.\r\nUnaffected brother (35y) is also homozygous for this variant." "M" "no" "Poland" "" "0" "" "see paper" "" "Proband" "00334627" "" "" "" "5" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00430656" "" "" "" "2" "cc_by-nd_4.0;1" "04100" "-" "-" "M" "no" "China" "04y?" "0" "-" "-" "Asia" "12" "00466330" "" "" "" "1" "" "04866" "" "" "M" "?" "Hong Kong" "" "" "" "" "Chinese" "318C" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00225584" "00352" "00334627" "04214" "00430656" "04173" "00466330" "00291" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00291, 00352, 04173, 04214 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000170698" "00352" "00225584" "02588" "Unknown" "26y" "Low-output congestive heart failure (HP:0009805), mitral regurgitation (HP:0001653), severely reduced ejection fraction (HP:0012666), left ventricular hypertrophy (HP:0001712), abnormal mitral valve physiology (HP:0031481), left atrial enlargement (HP:0031295), right atrial enlargement (HP:0030718), ventricular tachycardia (HP:0004756)" "" "" "" "" "" "" "" "" "" "0000321440" "04173" "00430656" "04100" "Unknown" "03y09m" "Echocardiogram showed enlarged left atrium and ventricle, prominent trabecular meshwork and deep intertrabecular recesses, mild mitral valve regurgitation, tricuspid regurgitation, pulmonary hypertension(36mmHg) and reduced cardiac function (Left ventricular ejection fraction (LVEF):35.5%), and the ratio of the thickness of the non-compacted layer to that of the compacted layer was 3.136 at the end of diastole. The ECG revealed sinus tachycardia, ventricular pre-excitation and T wave changes in some leads" "03y06m" "03y09m" "fatigue and shortness of breath" "-" "" "" "" "LVNC" "LVNC" "0000351695" "00291" "00466330" "04866" "Unknown" "6y-15y" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000226663" "00225584" "1" "02588" "02588" "2019-02-18 13:05:12" "" "" "SEQ;Western" "DNA;protein" "blood and buccal swab" "" "0000335856" "00334627" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000432075" "00430656" "1" "04100" "04100" "2023-01-22 13:32:34" "" "" "SEQ-NG" "DNA" "-" "-" "0000467988" "00466330" "1" "04866" "04866" "2025-08-18 09:42:45" "" "" "MS;SEQ-NG-I" "DNA" "blood" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000226663" "NRAP" "0000432075" "NRAP" ## 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 = 60 "{{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}}" "0000251905" "0" "30" "10" "115349462" "115349462" "subst" "0.00356756" "02326" "NRAP_000001" "g.115349462A>T" "" "" "" "NRAP(NM_001261463.1):c.5051T>A (p.L1684Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113589703A>T" "" "likely benign" "" "0000251914" "0" "30" "10" "115364585" "115364585" "subst" "0.00448383" "02326" "NRAP_000011" "g.115364585A>G" "" "" "" "NRAP(NM_001261463.1):c.4010T>C (p.M1337T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113604826A>G" "" "likely benign" "" "0000288926" "0" "30" "10" "115327243" "115327243" "subst" "8.12599E-6" "01943" "HABP2_000002" "g.115327243T>G" "" "" "" "HABP2(NM_004132.4):c.70-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113567484T>G" "" "likely benign" "" "0000288927" "0" "30" "10" "115327273" "115327273" "subst" "0.00416003" "01943" "HABP2_000003" "g.115327273G>T" "" "" "" "HABP2(NM_004132.4):c.95G>T (p.S32I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113567514G>T" "" "likely benign" "" "0000300426" "0" "30" "10" "115380419" "115380419" "subst" "0.00134928" "02326" "NRAP_000008" "g.115380419C>T" "" "" "" "NRAP(NM_001261463.1):c.2818G>A (p.A940T), NRAP(NM_001261463.2):c.2818G>A (p.A940T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113620660C>T" "" "likely benign" "" "0000300427" "0" "30" "10" "115377224" "115377224" "subst" "0.00179583" "02326" "NRAP_000007" "g.115377224T>G" "" "" "" "NRAP(NM_001261463.1):c.2963A>C (p.Q988P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113617465T>G" "" "likely benign" "" "0000300428" "0" "30" "10" "115374621" "115374621" "subst" "0.0050809" "02326" "NRAP_000005" "g.115374621C>T" "" "" "" "NRAP(NM_001261463.1):c.3163G>A (p.A1055T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113614862C>T" "" "likely benign" "" "0000300429" "0" "10" "10" "115372156" "115372156" "subst" "0.0255611" "02326" "NRAP_000004" "g.115372156G>A" "" "" "" "NRAP(NM_001261463.1):c.3335C>T (p.A1112V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113612397G>A" "" "benign" "" "0000300430" "0" "30" "10" "115405713" "115405713" "dup" "0" "02326" "NRAP_000009" "g.115405713dup" "" "" "" "NRAP(NM_001261463.1):c.994-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113645954dup" "" "likely benign" "" "0000304534" "0" "50" "10" "115374648" "115374648" "subst" "1.21875E-5" "01943" "NRAP_000006" "g.115374648C>T" "" "" "" "NRAP(NM_001261463.1):c.3136G>A (p.D1046N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113614889C>T" "" "VUS" "" "0000304535" "0" "50" "10" "115366040" "115366040" "subst" "6.91006E-5" "01943" "NRAP_000003" "g.115366040C>T" "" "" "" "NRAP(NM_001261463.1):c.3704G>A (p.R1235H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113606281C>T" "" "VUS" "" "0000321768" "0" "50" "10" "115357744" "115357744" "subst" "0" "01804" "NRAP_000002" "g.115357744C>G" "" "" "" "NRAP(NM_001261463.1):c.4316G>C (p.(Gly1439Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113597985C>G" "" "VUS" "" "0000459004" "3" "70" "10" "115355414" "115355414" "subst" "0.000316834" "02588" "NRAP_000012" "g.115355414G>A" "" "{PMID:Truszkowska 2017:28611399}" "" "NM_198060.3:4504C>T" "variant possible low-penetrance genetic risk factor for CMD" "Germline" "" "rs201084642" "0" "" "" "g.113595655G>A" "" "association" "" "0000539195" "0" "30" "10" "115337833" "115337833" "subst" "0.00106819" "01943" "HABP2_000004" "g.115337833C>T" "" "" "" "HABP2(NM_004132.4):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113578074C>T" "" "likely benign" "" "0000539196" "0" "50" "10" "115337844" "115337844" "subst" "2.03074E-5" "01943" "HABP2_000005" "g.115337844C>T" "" "" "" "HABP2(NM_004132.4):c.508C>T (p.R170W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113578085C>T" "" "VUS" "" "0000539197" "0" "50" "10" "115338424" "115338424" "subst" "0.00202715" "01804" "HABP2_000006" "g.115338424C>T" "" "" "" "HABP2(NM_001177660.1):c.529C>T (p.(Arg177*)), HABP2(NM_004132.4):c.607C>T (p.R203*), HABP2(NM_004132.5):c.607C>T (p.R203*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113578665C>T" "" "VUS" "" "0000539198" "0" "30" "10" "115338424" "115338424" "subst" "0.00202715" "02325" "HABP2_000006" "g.115338424C>T" "" "" "" "HABP2(NM_001177660.1):c.529C>T (p.(Arg177*)), HABP2(NM_004132.4):c.607C>T (p.R203*), HABP2(NM_004132.5):c.607C>T (p.R203*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113578665C>T" "" "likely benign" "" "0000539199" "0" "30" "10" "115341638" "115341638" "subst" "0" "01943" "HABP2_000007" "g.115341638T>C" "" "" "" "HABP2(NM_004132.4):c.842T>C (p.V281A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113581879T>C" "" "likely benign" "" "0000539200" "0" "30" "10" "115383328" "115383328" "subst" "9.02779E-5" "01943" "HABP2_000008" "g.115383328G>C" "" "" "" "NRAP(NM_001261463.1):c.2417C>G (p.T806S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113623569G>C" "" "likely benign" "" "0000539202" "0" "30" "10" "115401182" "115401182" "subst" "0.00104072" "01804" "HABP2_000010" "g.115401182C>T" "" "" "" "NRAP(NM_001261463.1):c.1265G>A (p.(Gly422Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113641423C>T" "" "likely benign" "" "0000539203" "0" "30" "10" "115405580" "115405580" "subst" "7.20418E-5" "01804" "HABP2_000011" "g.115405580G>A" "" "" "" "NRAP(NM_001261463.1):c.1110+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113645821G>A" "" "likely benign" "" "0000539204" "0" "50" "10" "115405648" "115405648" "subst" "4.91308E-5" "01943" "HABP2_000012" "g.115405648G>A" "" "" "" "NRAP(NM_001261463.1):c.1046C>T (p.S349L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113645889G>A" "" "VUS" "" "0000539205" "0" "10" "10" "115405712" "115405713" "dup" "0" "02326" "HABP2_000013" "g.115405712_115405713dup" "" "" "" "NRAP(NM_001261463.1):c.994-5_994-4dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113645953_113645954dup" "" "benign" "" "0000539208" "0" "10" "10" "115405713" "115405713" "dup" "0" "01943" "NRAP_000009" "g.115405713dup" "" "" "" "NRAP(NM_001261463.1):c.994-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113645954dup" "" "benign" "" "0000612299" "0" "50" "10" "115338424" "115338424" "subst" "0.00202715" "01943" "HABP2_000006" "g.115338424C>T" "" "" "" "HABP2(NM_001177660.1):c.529C>T (p.(Arg177*)), HABP2(NM_004132.4):c.607C>T (p.R203*), HABP2(NM_004132.5):c.607C>T (p.R203*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113578665C>T" "" "VUS" "" "0000612300" "0" "30" "10" "115338453" "115338453" "subst" "8.12176E-6" "01943" "HABP2_000014" "g.115338453G>A" "" "" "" "HABP2(NM_004132.4):c.636G>A (p.Q212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113578694G>A" "" "likely benign" "" "0000678782" "0" "30" "10" "115347999" "115347999" "subst" "0.000383536" "01943" "HABP2_000018" "g.115347999C>T" "" "" "" "HABP2(NM_004132.4):c.1554C>T (p.D518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690648" "0" "30" "10" "115389344" "115389344" "subst" "0.000366285" "02326" "HABP2_000019" "g.115389344C>T" "" "" "" "NRAP(NM_001261463.1):c.2040+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000734768" "0" "30" "10" "115380483" "115380483" "subst" "0" "00000" "NRAP_000013" "g.115380483G>A" "5/25 families" "{PMID:Maranhao 2015:26352687}" "" "NRAP:c.2770-16C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000804305" "0" "30" "10" "115344048" "115344048" "subst" "2.84557E-5" "01943" "HABP2_000020" "g.115344048C>T" "" "" "" "HABP2(NM_004132.4):c.1372+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861833" "0" "30" "10" "115343904" "115343904" "subst" "2.44089E-5" "01943" "HABP2_000021" "g.115343904T>C" "" "" "" "HABP2(NM_004132.4):c.1238-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861834" "0" "10" "10" "115348046" "115348046" "subst" "0.0223482" "01804" "HABP2_000017" "g.115348046G>A" "" "" "" "HABP2(NM_001177660.1):c.1523G>A (p.(Gly508Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889023" "0" "70" "10" "115340386" "115340386" "subst" "0" "02327" "HABP2_000022" "g.115340386T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913224" "0" "10" "10" "115380496" "115380496" "dup" "0" "02325" "HABP2_000023" "g.115380496dup" "" "" "" "NRAP(NM_001261463.2):c.2770-17dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913225" "0" "10" "10" "115389356" "115389356" "subst" "0.31723" "02325" "HABP2_000024" "g.115389356G>A" "" "" "" "NRAP(NM_001261463.2):c.2031C>T (p.L677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913226" "0" "10" "10" "115389366" "115389366" "subst" "0.317404" "02325" "HABP2_000025" "g.115389366G>A" "" "" "" "NRAP(NM_001261463.2):c.2021C>T (p.A674V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913227" "0" "10" "10" "115405615" "115405615" "subst" "0.625393" "02325" "HABP2_000026" "g.115405615T>C" "" "" "" "NRAP(NM_001261463.2):c.1079A>G (p.Q360R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913228" "0" "10" "10" "115405664" "115405664" "subst" "0.624383" "02325" "HABP2_000027" "g.115405664C>T" "" "" "" "NRAP(NM_001261463.2):c.1030G>A (p.A344T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913229" "0" "10" "10" "115411614" "115411614" "subst" "0.898487" "02325" "HABP2_000028" "g.115411614A>G" "" "" "" "NRAP(NM_001261463.2):c.623T>C (p.V208A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913230" "0" "10" "10" "115412686" "115412686" "subst" "0.898358" "02325" "HABP2_000029" "g.115412686G>A" "" "" "" "NRAP(NM_001261463.2):c.570+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913231" "0" "10" "10" "115417289" "115417289" "subst" "0.898245" "02325" "HABP2_000030" "g.115417289G>A" "" "" "" "NRAP(NM_001261463.2):c.300C>T (p.H100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000917410" "3" "70" "10" "115417331" "115417331" "del" "0" "04100" "NRAP_000014" "g.115417331del" "" "" "" "g.6476_6476del" "" "Germline" "yes" "" "0" "" "" "g.113657572del" "" "likely pathogenic" "ACMG" "0000925121" "0" "50" "10" "115370312" "115370312" "subst" "3.25135E-5" "02325" "HABP2_000031" "g.115370312C>T" "" "" "" "NRAP(NM_001261463.2):c.3509G>A (p.R1170Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978904" "0" "50" "10" "115341762" "115341762" "subst" "2.03075E-5" "01804" "HABP2_000032" "g.115341762G>A" "" "" "" "HABP2(NM_004132.5):c.966G>A (p.(Ala322=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978905" "0" "50" "10" "115364648" "115364648" "subst" "5.7026E-5" "02325" "HABP2_000033" "g.115364648C>T" "" "" "" "NRAP(NM_001261463.2):c.3947G>A (p.R1316Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978906" "0" "50" "10" "115405588" "115405588" "subst" "0" "01804" "HABP2_000034" "g.115405588C>G" "" "" "" "NRAP(NM_198060.4):c.1106G>C (p.(Ser369Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998126" "0" "50" "10" "115364565" "115364565" "subst" "0.000101539" "02325" "HABP2_000035" "g.115364565G>T" "" "" "" "NRAP(NM_001261463.2):c.4030C>A (p.L1344I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998127" "0" "50" "10" "115381896" "115381896" "subst" "0.00173101" "02325" "HABP2_000036" "g.115381896A>G" "" "" "" "NRAP(NM_001261463.1):c.2501T>C (p.I834T), NRAP(NM_001261463.2):c.2501T>C (p.I834T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014591" "0" "30" "10" "115380419" "115380419" "subst" "0.00134928" "02325" "NRAP_000008" "g.115380419C>T" "" "" "" "NRAP(NM_001261463.1):c.2818G>A (p.A940T), NRAP(NM_001261463.2):c.2818G>A (p.A940T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025715" "0" "50" "10" "115381746" "115381746" "subst" "4.87393E-5" "02326" "HABP2_000037" "g.115381746C>T" "" "" "" "NRAP(NM_001261463.1):c.2651G>A (p.R884H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025716" "0" "30" "10" "115381896" "115381896" "subst" "0.00173101" "02326" "HABP2_000036" "g.115381896A>G" "" "" "" "NRAP(NM_001261463.1):c.2501T>C (p.I834T), NRAP(NM_001261463.2):c.2501T>C (p.I834T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025717" "0" "50" "10" "115412815" "115412815" "subst" "0" "02326" "HABP2_000038" "g.115412815A>C" "" "" "" "NRAP(NM_001261463.1):c.466-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037732" "0" "50" "10" "115352017" "115352017" "subst" "0" "01804" "HABP2_000040" "g.115352017T>C" "" "" "" "NRAP(NM_198060.4):c.4580A>G (p.(Tyr1527Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046223" "0" "50" "10" "115381624" "115381624" "subst" "0" "02326" "HABP2_000041" "g.115381624T>A" "" "" "" "NRAP(NM_001261463.1):c.2769+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046224" "0" "50" "10" "115389448" "115389448" "subst" "0.000158481" "02325" "HABP2_000042" "g.115389448C>T" "" "" "" "NRAP(NM_001261463.2):c.1939G>A (p.A647T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046225" "0" "70" "10" "115392948" "115392948" "subst" "0" "02326" "HABP2_000043" "g.115392948C>A" "" "" "" "NRAP(NM_001261463.1):c.1528-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046226" "0" "70" "10" "115409794" "115409794" "subst" "0" "02326" "HABP2_000044" "g.115409794A>G" "" "" "" "NRAP(NM_001261463.1):c.888+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001047433" "0" "50" "10" "115349194" "115349194" "subst" "0" "04866" "HABP2_000045" "g.115349194T>C" "1/12 trios" "" "" "" "" "De novo" "-" "" "0" "" "" "g.113589435T>C" "" "VUS" "ACMG" "0001065359" "0" "50" "10" "115345559" "115345559" "del" "0" "02325" "HABP2_000046" "g.115345559del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065360" "0" "30" "10" "115389344" "115389344" "subst" "0.000366285" "02325" "HABP2_000019" "g.115389344C>T" "" "" "" "NRAP(NM_001261463.1):c.2040+3G>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 NRAP ## Count = 60 "{{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}}" "0000251905" "00025795" "30" "5051" "0" "5051" "0" "c.5051T>A" "r.(?)" "p.(Leu1684Gln)" "" "0000251914" "00025795" "30" "4010" "0" "4010" "0" "c.4010T>C" "r.(?)" "p.(Met1337Thr)" "" "0000288926" "00025795" "30" "26684" "0" "26684" "0" "c.*21491A>C" "r.(=)" "p.(=)" "" "0000288927" "00025795" "30" "26654" "0" "26654" "0" "c.*21461C>A" "r.(=)" "p.(=)" "" "0000300426" "00025795" "30" "2818" "0" "2818" "0" "c.2818G>A" "r.(?)" "p.(Ala940Thr)" "" "0000300427" "00025795" "30" "2963" "0" "2963" "0" "c.2963A>C" "r.(?)" "p.(Gln988Pro)" "" "0000300428" "00025795" "30" "3163" "0" "3163" "0" "c.3163G>A" "r.(?)" "p.(Ala1055Thr)" "" "0000300429" "00025795" "10" "3335" "0" "3335" "0" "c.3335C>T" "r.(?)" "p.(Ala1112Val)" "" "0000300430" "00025795" "30" "994" "-4" "994" "-4" "c.994-4dup" "r.spl?" "p.?" "" "0000304534" "00025795" "50" "3136" "0" "3136" "0" "c.3136G>A" "r.(?)" "p.(Asp1046Asn)" "" "0000304535" "00025795" "50" "3704" "0" "3704" "0" "c.3704G>A" "r.(?)" "p.(Arg1235His)" "" "0000321768" "00025795" "50" "4316" "0" "4316" "0" "c.4316G>C" "r.(?)" "p.(Gly1439Ala)" "" "0000459004" "00025795" "70" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502Ter)" "" "0000539195" "00025795" "30" "16094" "0" "16094" "0" "c.*10901G>A" "r.(=)" "p.(=)" "" "0000539196" "00025795" "50" "16083" "0" "16083" "0" "c.*10890G>A" "r.(=)" "p.(=)" "" "0000539197" "00025795" "50" "15503" "0" "15503" "0" "c.*10310G>A" "r.(=)" "p.(=)" "" "0000539198" "00025795" "30" "15503" "0" "15503" "0" "c.*10310G>A" "r.(=)" "p.(=)" "" "0000539199" "00025795" "30" "12289" "0" "12289" "0" "c.*7096A>G" "r.(=)" "p.(=)" "" "0000539200" "00025795" "30" "2417" "0" "2417" "0" "c.2417C>G" "r.(?)" "p.(Thr806Ser)" "" "0000539202" "00025795" "30" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Glu)" "" "0000539203" "00025795" "30" "1110" "4" "1110" "4" "c.1110+4C>T" "r.spl?" "p.?" "" "0000539204" "00025795" "50" "1046" "0" "1046" "0" "c.1046C>T" "r.(?)" "p.(Ser349Leu)" "" "0000539205" "00025795" "10" "994" "-5" "994" "-4" "c.994-5_994-4dup" "r.spl?" "p.?" "" "0000539208" "00025795" "10" "994" "-4" "994" "-4" "c.994-4dup" "r.spl?" "p.?" "" "0000612299" "00025795" "50" "15503" "0" "15503" "0" "c.*10310G>A" "r.(=)" "p.(=)" "" "0000612300" "00025795" "30" "15474" "0" "15474" "0" "c.*10281C>T" "r.(=)" "p.(=)" "" "0000678782" "00025795" "30" "5928" "0" "5928" "0" "c.*735G>A" "r.(=)" "p.(=)" "" "0000690648" "00025795" "30" "2040" "3" "2040" "3" "c.2040+3G>A" "r.spl?" "p.?" "" "0000734768" "00025795" "30" "2770" "-16" "2770" "-16" "c.2770-16C>T" "r.(=)" "p.(=)" "" "0000804305" "00025795" "30" "9879" "0" "9879" "0" "c.*4686G>A" "r.(=)" "p.(=)" "" "0000861833" "00025795" "30" "10023" "0" "10023" "0" "c.*4830A>G" "r.(=)" "p.(=)" "" "0000861834" "00025795" "10" "5881" "0" "5881" "0" "c.*688C>T" "r.(=)" "p.(=)" "" "0000889023" "00025795" "70" "13541" "0" "13541" "0" "c.*8348A>G" "r.(=)" "p.(=)" "" "0000913224" "00025795" "10" "2770" "-17" "2770" "-17" "c.2770-17dup" "r.(=)" "p.(=)" "" "0000913225" "00025795" "10" "2031" "0" "2031" "0" "c.2031C>T" "r.(?)" "p.(Leu677=)" "" "0000913226" "00025795" "10" "2021" "0" "2021" "0" "c.2021C>T" "r.(?)" "p.(Ala674Val)" "" "0000913227" "00025795" "10" "1079" "0" "1079" "0" "c.1079A>G" "r.(?)" "p.(Gln360Arg)" "" "0000913228" "00025795" "10" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Ala344Thr)" "" "0000913229" "00025795" "10" "623" "0" "623" "0" "c.623T>C" "r.(?)" "p.(Val208Ala)" "" "0000913230" "00025795" "10" "570" "8" "570" "8" "c.570+8C>T" "r.(=)" "p.(=)" "" "0000913231" "00025795" "10" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(His100=)" "" "0000917410" "00025795" "70" "259" "0" "259" "0" "c.259del" "r.(?)" "p.(His87Metfs*17)" "4" "0000925121" "00025795" "50" "3509" "0" "3509" "0" "c.3509G>A" "r.(?)" "p.(Arg1170Gln)" "" "0000978904" "00025795" "50" "12165" "0" "12165" "0" "c.*6972C>T" "r.(=)" "p.(=)" "" "0000978905" "00025795" "50" "3947" "0" "3947" "0" "c.3947G>A" "r.(?)" "p.(Arg1316Gln)" "" "0000978906" "00025795" "50" "1106" "0" "1106" "0" "c.1106G>C" "r.(?)" "p.(Ser369Thr)" "" "0000998126" "00025795" "50" "4030" "0" "4030" "0" "c.4030C>A" "r.(?)" "p.(Leu1344Ile)" "" "0000998127" "00025795" "50" "2501" "0" "2501" "0" "c.2501T>C" "r.(?)" "p.(Ile834Thr)" "" "0001014591" "00025795" "30" "2818" "0" "2818" "0" "c.2818G>A" "r.(?)" "p.(Ala940Thr)" "" "0001025715" "00025795" "50" "2651" "0" "2651" "0" "c.2651G>A" "r.(?)" "p.(Arg884His)" "" "0001025716" "00025795" "30" "2501" "0" "2501" "0" "c.2501T>C" "r.(?)" "p.(Ile834Thr)" "" "0001025717" "00025795" "50" "466" "-17" "466" "-17" "c.466-17T>G" "r.(=)" "p.(=)" "" "0001037732" "00025795" "50" "4580" "0" "4580" "0" "c.4580A>G" "r.(?)" "p.(Tyr1527Cys)" "" "0001046223" "00025795" "50" "2769" "4" "2769" "4" "c.2769+4A>T" "r.spl?" "p.?" "" "0001046224" "00025795" "50" "1939" "0" "1939" "0" "c.1939G>A" "r.(?)" "p.(Ala647Thr)" "" "0001046225" "00025795" "70" "1528" "-1" "1528" "-1" "c.1528-1G>T" "r.spl?" "p.?" "" "0001046226" "00025795" "70" "888" "2" "888" "2" "c.888+2T>C" "r.spl?" "p.?" "" "0001047433" "00025795" "50" "5088" "231" "5088" "231" "c.5088+231A>G" "r.(?)" "p.(=)" "" "0001065359" "00025795" "50" "8370" "0" "8370" "0" "c.*3177del" "r.(?)" "p.(=)" "" "0001065360" "00025795" "30" "2040" "3" "2040" "3" "c.2040+3G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000226663" "0000459004" "0000335856" "0000734768" "0000432075" "0000917410" "0000467988" "0001047433"