### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NOP56) # 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}}" "NOP56" "NOP56 ribonucleoprotein" "20" "p13" "unknown" "NC_000020.10" "UD_136071355562" "" "https://www.LOVD.nl/NOP56" "" "1" "15911" "10528" "614154" "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/NOP56_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-05-27 18:37:04" "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}}" "00014690" "NOP56" "NOP56 ribonucleoprotein homolog (yeast), transcript variant 1" "002" "NM_006392.3" "" "NP_006383.2" "" "" "" "-129" "1884" "1785" "2633178" "2639039" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "03561" "SCA36" "ataxia, spinocerebellar, type 36 (SCA-36)" "AD" "614153" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04167" "SCA" "ataxia, spinocerebellar (SCA)" "" "" "" "" "" "00006" "2014-12-24 11:54:32" "00006" "2015-12-08 23:59:30" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NOP56" "03561" "NOP56" "04167" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00450486" "" "" "" "10" "" "00006" "{PMID:Kobayashi 2011:21683323}" "5-generation family, 10 affected (6F, 4M)" "F" "" "Japan" "" "0" "" "" "" "Fam1PatIII6" "00450487" "" "" "" "3" "" "00006" "{PMID:Kobayashi 2011:21683323}" "2-generation family, 3 affected (son, mother, sister)" "M" "" "Japan" "" "0" "" "" "" "Fam2PatII1" "00450488" "" "" "" "5" "" "00006" "{PMID:Kobayashi 2011:21683323}" "3-generation family, 3 affected (5M)" "M" "" "Japan" "" "0" "" "" "" "Fam3PatII3" "00450489" "" "" "" "2" "" "00006" "{PMID:Kobayashi 2011:21683323}" "2-generation family, affected father/daughter" "F" "" "Japan" "" "0" "" "" "" "Fam4PatII1" "00450490" "" "" "" "2" "" "00006" "{PMID:Kobayashi 2011:21683323}" "2-generation family, affected father/daughter" "F" "" "Japan" "" "0" "" "" "" "Fam5PatII1" "00450491" "" "" "" "1" "" "00006" "{PMID:Kobayashi 2011:21683323}" "patient" "M" "" "Japan" "" "0" "" "" "" "SCA#1" "00450492" "" "" "" "1" "" "00006" "{PMID:Kobayashi 2011:21683323}" "patient" "F" "" "Japan" "" "0" "" "" "" "SCA#2" "00450493" "" "" "" "1" "" "00006" "{PMID:Kobayashi 2011:21683323}" "patient" "M" "" "Japan" "" "0" "" "" "" "SCA#3" "00450494" "" "" "" "1" "" "00006" "{PMID:Kobayashi 2011:21683323}" "patient" "M" "" "Japan" "" "0" "" "" "" "SCA#4" "00450495" "" "" "" "1" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Spain" "" "0" "" "" "" "controls" "00450496" "" "" "" "1" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Spain" "" "0" "" "" "" "control" "00450497" "" "" "" "7" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "6-generation family, 7 affected" "F;M" "" "Spain" "" "0" "" "" "Galicia" "Fam1" "00450498" "" "" "" "3" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "6-generation family, 3 affected" "F;M" "" "Spain" "" "0" "" "" "Galicia" "Fam2" "00450499" "" "" "" "1" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "family, several affected" "M" "" "Spain" "" "0" "" "" "Galicia" "Fam4" "00450500" "" "" "" "1" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "family, several affected" "M" "" "Spain" "" "0" "" "" "Galicia" "Fam5" "00450501" "" "" "" "1" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "family, several affected" "M" "" "Spain" "" "0" "" "" "Galicia" "Fam6" "00450502" "" "" "" "1" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "family, several affected" "M" "" "Spain" "" "0" "" "" "Galicia" "Fam7" "00450503" "" "" "" "1" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "family, several affected" "F" "" "Spain" "" "0" "" "" "Galicia" "Fam9" "00450504" "" "" "" "1" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "family, several affected" "M" "" "Spain" "" "0" "" "" "Galicia" "Fam10" "00450505" "" "" "" "31" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Spain" "" "0" "" "" "" "controls" "00450506" "" "" "" "29" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Spain" "" "0" "" "" "" "controls" "00450507" "" "" "" "1" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Spain" "" "0" "" "" "" "controls" "00450508" "" "" "" "34" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Spain" "" "0" "" "" "" "controls" "00450509" "" "" "" "1" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Spain" "" "0" "" "" "" "controls" "00450510" "" "" "" "1" "" "00006" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Spain" "" "0" "" "" "" "controls" "00450511" "" "" "" "2" "" "00006" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "family, 2 affected sibs" "" "" "" "" "0" "" "" "" "F008.1/2" "00450512" "" "" "" "2" "" "00006" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "family, affected son/mother" "" "" "" "" "0" "" "" "" "F049.1/2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00450486" "04167" "00450487" "04167" "00450488" "04167" "00450489" "04167" "00450490" "04167" "00450491" "04167" "00450492" "04167" "00450493" "04167" "00450494" "04167" "00450495" "00000" "00450496" "00000" "00450497" "04167" "00450498" "04167" "00450499" "04167" "00450500" "04167" "00450501" "04167" "00450502" "04167" "00450503" "04167" "00450504" "04167" "00450505" "00000" "00450506" "00000" "00450507" "00000" "00450508" "00000" "00450509" "00000" "00450510" "00000" "00450511" "05356" "00450512" "05356" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 03561, 04167, 05356 ## Count = 19 "{{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}}" "0000339549" "04167" "00450486" "00006" "Familial, autosomal dominant" "68y" "see paper; ..., ataxia, skeletal muscle atrophy, skeletal muscle fsciculation, tongue atrophy/ fasciculation" "52y" "" "" "" "" "" "" "SCA36" "spinocerebellar ataxia" "0000339550" "04167" "00450487" "00006" "Familial, autosomal dominant" "77y" "see paper; ..., ataxia, skeletal muscle atrophy, skeletal muscle fsciculation, tongue atrophy/ fasciculation" "55y" "" "" "" "" "" "" "SCA36" "spinocerebellar ataxia" "0000339551" "04167" "00450488" "00006" "Familial, autosomal dominant" "77y" "see paper; ..., ataxia, skeletal muscle atrophy, skeletal muscle fsciculation, tongue atrophy/ fasciculation" "58y" "" "" "" "" "" "" "SCA36" "spinocerebellar ataxia" "0000339552" "04167" "00450489" "00006" "Familial, autosomal dominant" "61y" "see paper; ..., ataxia, skeletal muscle atrophy, skeletal muscle fsciculation, tongue atrophy/ fasciculation" "48y" "" "" "" "" "" "" "SCA36" "spinocerebellar ataxia" "0000339553" "04167" "00450490" "00006" "Familial, autosomal dominant" "58y" "see paper; ..., ataxia, skeletal muscle atrophy, skeletal muscle fsciculation, tongue atrophy/ fasciculation" "47y" "" "" "" "" "" "" "SCA36" "spinocerebellar ataxia" "0000339554" "04167" "00450491" "00006" "Familial, autosomal dominant" "69y" "see paper; ..., ataxia, skeletal muscle atrophy, skeletal muscle fsciculation, tongue atrophy/ fasciculation" "52y" "" "" "" "" "" "" "SCA36" "spinocerebellar ataxia" "0000339555" "04167" "00450492" "00006" "Familial, autosomal dominant" "53y" "see paper; ..., ataxia, no skeletal muscle atrophy, no skeletal muscle fsciculation, tongue atrophy/ fasciculation" "43y" "" "" "" "" "" "" "SCA36" "spinocerebellar ataxia" "0000339556" "04167" "00450493" "00006" "Familial, autosomal dominant" "60y" "see paper; ..., ataxia, no skeletal muscle atrophy, no skeletal muscle fsciculation, tongue atrophy/ fasciculation" "55y" "" "" "" "" "" "" "SCA36" "spinocerebellar ataxia" "0000339557" "04167" "00450494" "00006" "Familial, autosomal dominant" "81y" "see paper; ..., ataxia, skeletal muscle atrophy, skeletal muscle fsciculation, tongue atrophy/ fasciculation" "57y" "" "" "" "" "" "" "SCA36" "spinocerebellar ataxia" "0000339558" "04167" "00450497" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "SCA36" "Costa da Morte ataxia" "0000339559" "04167" "00450498" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "SCA36" "Costa da Morte ataxia" "0000339560" "04167" "00450499" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "SCA36" "Costa da Morte ataxia" "0000339561" "04167" "00450500" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "SCA36" "Costa da Morte ataxia" "0000339562" "04167" "00450501" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "SCA36" "Costa da Morte ataxia" "0000339563" "04167" "00450502" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "SCA36" "Costa da Morte ataxia" "0000339564" "04167" "00450503" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "SCA36" "Costa da Morte ataxia" "0000339565" "04167" "00450504" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "SCA36" "Costa da Morte ataxia" "0000339566" "05356" "00450511" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "SCA36" "ataxia" "0000339567" "05356" "00450512" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "SCA36" "ataxia" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000452084" "00450486" "1" "00006" "00006" "2024-05-28 19:37:17" "" "" "PCR;SEQ" "DNA" "" "" "0000452085" "00450487" "1" "00006" "00006" "2024-05-28 19:37:17" "" "" "PCR;SEQ" "DNA" "" "" "0000452086" "00450488" "1" "00006" "00006" "2024-05-28 19:37:17" "" "" "PCR;SEQ" "DNA" "" "" "0000452087" "00450489" "1" "00006" "00006" "2024-05-28 19:37:17" "" "" "PCR;SEQ" "DNA" "" "" "0000452088" "00450490" "1" "00006" "00006" "2024-05-28 19:37:17" "" "" "PCR;SEQ" "DNA" "" "" "0000452089" "00450491" "1" "00006" "00006" "2024-05-28 19:37:17" "" "" "PCR;SEQ" "DNA" "" "" "0000452090" "00450492" "1" "00006" "00006" "2024-05-28 19:37:17" "" "" "PCR;SEQ" "DNA" "" "" "0000452091" "00450493" "1" "00006" "00006" "2024-05-28 19:37:17" "" "" "PCR;SEQ" "DNA" "" "" "0000452092" "00450494" "1" "00006" "00006" "2024-05-28 19:37:17" "" "" "PCR;SEQ" "DNA" "" "" "0000452093" "00450495" "1" "00006" "00006" "2024-05-29 08:34:00" "" "" "SEQ" "DNA" "" "" "0000452094" "00450496" "1" "00006" "00006" "2024-05-29 08:36:28" "" "" "SEQ" "DNA" "" "" "0000452095" "00450497" "1" "00006" "00006" "2024-05-29 09:00:57" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000452096" "00450498" "1" "00006" "00006" "2024-05-29 09:00:57" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000452097" "00450499" "1" "00006" "00006" "2024-05-29 09:00:57" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000452098" "00450500" "1" "00006" "00006" "2024-05-29 09:00:57" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000452099" "00450501" "1" "00006" "00006" "2024-05-29 09:00:57" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000452100" "00450502" "1" "00006" "00006" "2024-05-29 09:00:57" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000452101" "00450503" "1" "00006" "00006" "2024-05-29 09:00:57" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000452102" "00450504" "1" "00006" "00006" "2024-05-29 09:00:57" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000452103" "00450505" "1" "00006" "00006" "2024-05-29 09:00:57" "" "" "PCR;SEQ" "DNA" "" "" "0000452104" "00450506" "1" "00006" "00006" "2024-05-29 09:00:57" "" "" "PCR;SEQ" "DNA" "" "" "0000452105" "00450507" "1" "00006" "00006" "2024-05-29 09:00:57" "" "" "PCR;SEQ" "DNA" "" "" "0000452106" "00450508" "1" "00006" "00006" "2024-05-29 09:00:57" "" "" "PCR;SEQ" "DNA" "" "" "0000452107" "00450509" "1" "00006" "00006" "2024-05-29 09:00:57" "" "" "PCR;SEQ" "DNA" "" "" "0000452108" "00450510" "1" "00006" "00006" "2024-05-29 09:00:57" "" "" "PCR;SEQ" "DNA" "" "" "0000452109" "00450511" "1" "00006" "00006" "2024-05-29 09:59:06" "" "" "SEQ-PB" "DNA" "" "" "0000452110" "00450512" "1" "00006" "00006" "2024-05-29 10:04:03" "" "" "SEQ-NG;SEQ-PB" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{geneid}}" "0000452084" "NOP56" "0000452085" "NOP56" "0000452086" "NOP56" "0000452087" "NOP56" "0000452088" "NOP56" "0000452089" "NOP56" "0000452090" "NOP56" "0000452091" "NOP56" "0000452092" "NOP56" "0000452093" "NOP56" "0000452094" "NOP56" "0000452095" "NOP56" "0000452096" "NOP56" "0000452097" "NOP56" "0000452098" "NOP56" "0000452099" "NOP56" "0000452100" "NOP56" "0000452101" "NOP56" "0000452102" "NOP56" "0000452103" "NOP56" "0000452104" "NOP56" "0000452105" "NOP56" "0000452106" "NOP56" "0000452107" "NOP56" "0000452108" "NOP56" ## 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 = 84 "{{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}}" "0000247670" "0" "50" "20" "2641103" "2641103" "subst" "0" "02330" "IDH3B_000002" "g.2641103A>G" "" "" "" "IDH3B(NM_006899.5):c.665T>C (p.M222T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2660457A>G" "" "VUS" "" "0000277810" "0" "10" "20" "2639410" "2639410" "subst" "3.65453E-5" "02330" "IDH3B_000001" "g.2639410G>C" "" "" "" "IDH3B(NM_006899.5):c.1145C>G (p.T382S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2658764G>C" "" "benign" "" "0000277811" "0" "30" "20" "2644558" "2644558" "subst" "0.0027071" "02330" "IDH3B_000008" "g.2644558G>C" "" "" "" "IDH3B(NM_006899.5):c.117+13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2663912G>C" "" "likely benign" "" "0000277812" "0" "10" "20" "2644565" "2644565" "subst" "0.00373999" "02330" "IDH3B_000009" "g.2644565G>T" "" "" "" "IDH3B(NM_006899.5):c.117+6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2663919G>T" "" "benign" "" "0000277813" "0" "10" "20" "2644201" "2644201" "subst" "0" "02330" "IDH3B_000006" "g.2644201G>A" "" "" "" "IDH3B(NM_006899.5):c.228C>T (p.V76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2663555G>A" "" "benign" "" "0000277814" "0" "10" "20" "2644177" "2644177" "subst" "0.000243675" "02330" "IDH3B_000005" "g.2644177G>A" "" "" "" "IDH3B(NM_006899.4):c.252C>T (p.H84=), IDH3B(NM_006899.5):c.252C>T (p.H84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2663531G>A" "" "benign" "" "0000281460" "0" "10" "20" "2644407" "2644407" "subst" "0.69042" "02325" "IDH3B_000007" "g.2644407C>G" "" "" "" "IDH3B(NM_006899.5):c.118-3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2663761C>G" "" "benign" "" "0000289342" "0" "30" "20" "2641481" "2641481" "subst" "4.06121E-6" "01943" "IDH3B_000004" "g.2641481G>A" "" "" "" "IDH3B(NM_006899.4):c.399-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2660835G>A" "" "likely benign" "" "0000289343" "0" "30" "20" "2641132" "2641132" "subst" "0.00436117" "01943" "IDH3B_000003" "g.2641132C>T" "" "" "" "IDH3B(NM_006899.4):c.636G>A (p.K212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2660486C>T" "" "likely benign" "" "0000289344" "0" "30" "20" "2644606" "2644606" "subst" "4.06521E-6" "01943" "IDH3B_000010" "g.2644606T>C" "" "" "" "IDH3B(NM_006899.4):c.82A>G (p.T28A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2663960T>C" "" "likely benign" "" "0000296518" "0" "10" "20" "2633936" "2633936" "subst" "0.828982" "02325" "NOP56_000001" "g.2633936T>C" "" "" "" "NOP56(NM_006392.4):c.105T>C (p.S35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2653290T>C" "" "benign" "" "0000304253" "0" "50" "20" "2638848" "2638848" "subst" "1.7431E-5" "01943" "NOP56_000003" "g.2638848G>A" "" "" "" "NOP56(NM_006392.3):c.1693G>A (p.E565K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2658202G>A" "" "VUS" "" "0000304254" "0" "30" "20" "2636618" "2636618" "subst" "2.43948E-5" "01943" "NOP56_000002" "g.2636618C>G" "" "" "" "NOP56(NM_006392.3):c.948C>G (p.T316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2655972C>G" "" "likely benign" "" "0000569283" "0" "30" "20" "2633312" "2633312" "subst" "0.000125727" "01943" "NOP56_000004" "g.2633312G>A" "" "" "" "NOP56(NM_006392.3):c.3+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2652666G>A" "" "likely benign" "" "0000569284" "0" "10" "20" "2640195" "2640195" "subst" "0.00170553" "02330" "IDH3B_000016" "g.2640195C>T" "" "" "" "IDH3B(NM_006899.5):c.1047G>A (p.V349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2659549C>T" "" "benign" "" "0000569285" "0" "50" "20" "2641221" "2641221" "del" "0" "02330" "IDH3B_000017" "g.2641221del" "" "" "" "IDH3B(NM_006899.5):c.547delA (p.I183Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2660575del" "" "VUS" "" "0000569286" "0" "30" "20" "2644357" "2644357" "subst" "0.000154326" "01943" "IDH3B_000018" "g.2644357C>T" "" "" "" "IDH3B(NM_006899.4):c.165G>A (p.P55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2663711C>T" "" "likely benign" "" "0000569287" "0" "50" "20" "2644652" "2644652" "subst" "2.85449E-5" "02330" "IDH3B_000019" "g.2644652C>T" "" "" "" "IDH3B(NM_006899.4):c.37-1G>A, IDH3B(NM_006899.5):c.37-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2664006C>T" "" "VUS" "" "0000569288" "0" "10" "20" "2644793" "2644793" "subst" "1.23843E-5" "02330" "IDH3B_000020" "g.2644793C>T" "" "" "" "IDH3B(NM_006899.5):c.36+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2664147C>T" "" "benign" "" "0000681576" "0" "70" "20" "2644637" "2644638" "ins" "0" "01943" "IDH3B_000022" "g.2644637_2644638insAA" "" "" "" "IDH3B(NM_006899.4):c.50_51insTT (p.G18Sfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000692948" "0" "30" "20" "2640691" "2640691" "subst" "8.12242E-5" "01943" "IDH3B_000023" "g.2640691G>A" "" "" "" "IDH3B(NM_006899.4):c.900C>T (p.Y300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692949" "0" "50" "20" "2640761" "2640761" "subst" "4.06058E-5" "01943" "IDH3B_000024" "g.2640761A>G" "" "" "" "IDH3B(NM_006899.4):c.830T>C (p.I277T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692950" "0" "50" "20" "2640993" "2640993" "subst" "0" "01943" "IDH3B_000025" "g.2640993C>G" "" "" "" "IDH3B(NM_006899.4):c.684G>C (p.L228F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692951" "0" "90" "20" "2644652" "2644652" "subst" "2.85449E-5" "01943" "IDH3B_000019" "g.2644652C>T" "" "" "" "IDH3B(NM_006899.4):c.37-1G>A, IDH3B(NM_006899.5):c.37-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727634" "0" "50" "20" "2640214" "2640214" "subst" "0" "01943" "IDH3B_000026" "g.2640214C>A" "" "" "" "IDH3B(NM_006899.4):c.1028G>T (p.S343I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809188" "0" "50" "20" "2639418" "2639418" "subst" "0" "01943" "IDH3B_000032" "g.2639418G>C" "" "" "" "IDH3B(NM_006899.4):c.1137C>G (p.H379Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809189" "0" "30" "20" "2644177" "2644177" "subst" "0.000243675" "01943" "IDH3B_000005" "g.2644177G>A" "" "" "" "IDH3B(NM_006899.4):c.252C>T (p.H84=), IDH3B(NM_006899.5):c.252C>T (p.H84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855783" "0" "30" "20" "2639088" "2639088" "subst" "0" "01943" "IDH3B_000034" "g.2639088C>T" "" "" "" "IDH3B(NM_174855.3):c.1152G>A (p.*384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855784" "0" "30" "20" "2644614" "2644614" "subst" "0.000621951" "02330" "IDH3B_000038" "g.2644614C>T" "" "" "" "IDH3B(NM_006899.4):c.74G>A (p.G25D), IDH3B(NM_006899.5):c.74G>A (p.G25D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866403" "0" "30" "20" "2640216" "2640216" "subst" "5.27897E-5" "01943" "IDH3B_000035" "g.2640216G>A" "" "" "" "IDH3B(NM_006899.4):c.1026C>T (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866404" "0" "30" "20" "2644614" "2644614" "subst" "0.000621951" "01943" "IDH3B_000038" "g.2644614C>T" "" "" "" "IDH3B(NM_006899.4):c.74G>A (p.G25D), IDH3B(NM_006899.5):c.74G>A (p.G25D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895248" "0" "30" "20" "2635390" "2635392" "del" "0" "02326" "IDH3B_000039" "g.2635390_2635392del" "" "" "" "NOP56(NM_006392.4):c.371-5_371-3delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895249" "0" "30" "20" "2637427" "2637427" "subst" "0.00184358" "02326" "IDH3B_000040" "g.2637427C>T" "" "" "" "NOP56(NM_006392.4):c.1167C>T (p.P389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895250" "0" "30" "20" "2638730" "2638730" "subst" "0.000463607" "02326" "IDH3B_000041" "g.2638730C>T" "" "" "" "NOP56(NM_006392.4):c.1575C>T (p.T525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000986036" "21" "90" "20" "0" "0" "" "" "00006" "NOP56_000005" "g.2633380_2633403GGCCTG[(1800_2300)]" "" "{PMID:Kobayashi 2011:21683323}" "" "" ">10kb repeat expansion" "Germline" "yes" "rs68063608" "0" "" "" "g.2652734_2652757GGCCTG[(1800_2300)]" "" "pathogenic (dominant)" "" "0000986039" "21" "90" "20" "0" "0" "" "" "00006" "NOP56_000010" "g.2633380_2633403GGCCTG[(2200)]" "" "{PMID:Kobayashi 2011:21683323}" "" "" ">10kb repeat expansion" "Germline" "yes" "rs68063608" "0" "" "" "g.2652734_2652757GGCCTG[(2200)]" "" "pathogenic (dominant)" "" "0000986040" "11" "90" "20" "0" "0" "" "" "00006" "NOP56_000006" "g.2633380_2633403GGCCTG[(2300)]" "" "{PMID:Kobayashi 2011:21683323}" "" "" ">10kb repeat expansion" "Germline" "yes" "rs68063608" "0" "" "" "g.2652734_2652757GGCCTG[(2300)]" "" "pathogenic (dominant)" "" "0000986041" "20" "10" "20" "2633398" "2633403" "del" "0" "00006" "NOP56_000007" "g.2633398_2633403del" "" "{PMID:Kobayashi 2011:21683323}" "" "" "" "Germline" "" "" "0" "" "" "g.2652752_2652757del" "" "benign" "" "0000986042" "10" "10" "20" "2633392" "2633403" "dup" "0" "00006" "NOP56_000008" "g.2633392_2633403dup" "" "{PMID:Kobayashi 2011:21683323}" "" "" "" "Germline" "" "" "0" "" "" "g.2652746_2652757dup" "" "benign" "" "0000986043" "10" "10" "20" "2633392" "2633403" "dup" "0" "00006" "NOP56_000008" "g.2633392_2633403dup" "" "{PMID:Kobayashi 2011:21683323}" "" "" "" "Germline" "" "" "0" "" "" "g.2652746_2652757dup" "" "benign" "" "0000986044" "11" "90" "20" "0" "0" "" "" "00006" "NOP56_000009" "g.2633380_2633403GGCCTG[(2000)]" "" "{PMID:Kobayashi 2011:21683323}" "" "" ">10kb repeat expansion" "Germline" "yes" "rs68063608" "0" "" "" "g.2652734_2652757GGCCTG[(2000)]" "" "pathogenic (dominant)" "" "0000986045" "20" "10" "20" "2633392" "2633403" "dup" "0" "00006" "NOP56_000008" "g.2633392_2633403dup" "" "{PMID:Kobayashi 2011:21683323}" "" "" "" "Germline" "" "" "0" "" "" "g.2652746_2652757dup" "" "benign" "" "0000986046" "21" "90" "20" "0" "0" "" "" "00006" "NOP56_000024" "g.2633380_2633403GGCCTG[(1700)]" "" "{PMID:Kobayashi 2011:21683323}" "" "" ">10kb repeat expansion" "Germline" "yes" "rs68063608" "0" "" "" "g.2652734_2652757GGCCTG[(1700)]" "" "pathogenic (dominant)" "" "0000986047" "20" "10" "20" "2633392" "2633403" "dup" "0" "00006" "NOP56_000008" "g.2633392_2633403dup" "" "{PMID:Kobayashi 2011:21683323}" "" "" "" "Germline" "" "" "0" "" "" "g.2652746_2652757dup" "" "benign" "" "0000986048" "0" "90" "20" "0" "0" "" "" "00006" "NOP56_000010" "g.2633380_2633403GGCCTG[(2200)]" "" "{PMID:Kobayashi 2011:21683323}" "" "" ">10kb repeat expansion" "Germline/De novo (untested)" "" "rs68063608" "0" "" "" "g.2652734_2652757GGCCTG[(2200)]" "" "pathogenic (dominant)" "" "0000986049" "2" "10" "20" "2633398" "2633403" "dup" "0" "00006" "NOP56_000011" "g.2633398_2633403dup" "" "{PMID:Kobayashi 2011:21683323}" "" "" "" "Germline" "" "" "0" "" "" "g.2652752_2652757dup" "" "benign" "" "0000986050" "0" "90" "20" "0" "0" "" "" "00006" "NOP56_000025" "g.2633380_2633403GGCCTG[(1800)]" "" "{PMID:Kobayashi 2011:21683323}" "" "" ">10kb repeat expansion" "Germline/De novo (untested)" "" "rs68063608" "0" "" "" "g.2652734_2652757GGCCTG[(1800)]" "" "pathogenic (dominant)" "" "0000986051" "2" "10" "20" "2633392" "2633403" "dup" "0" "00006" "NOP56_000008" "g.2633392_2633403dup" "" "{PMID:Kobayashi 2011:21683323}" "" "" "" "Germline" "" "" "0" "" "" "g.2652746_2652757dup" "" "benign" "" "0000986052" "0" "90" "20" "0" "0" "" "" "00006" "NOP56_000024" "g.2633380_2633403GGCCTG[(1700)]" "" "{PMID:Kobayashi 2011:21683323}" "" "" ">10kb repeat expansion" "Germline/De novo (untested)" "" "rs68063608" "0" "" "" "g.2652734_2652757GGCCTG[(1700)]" "" "pathogenic (dominant)" "" "0000986053" "2" "10" "20" "2633380" "2633403" "dup" "0" "00006" "NOP56_000012" "g.2633380_2633403dup" "" "{PMID:Kobayashi 2011:21683323}" "" "" "" "Germline" "" "" "0" "" "" "g.2652734_2652757dup" "" "benign" "" "0000986054" "0" "90" "20" "0" "0" "" "" "00006" "NOP56_000010" "g.2633380_2633403GGCCTG[(2200)]" "" "{PMID:Kobayashi 2011:21683323}" "" "" ">10kb repeat expansion" "Germline/De novo (untested)" "" "rs68063608" "0" "" "" "g.2652734_2652757GGCCTG[(2200)]" "" "pathogenic (dominant)" "" "0000986055" "2" "10" "20" "2633398" "2633403" "dup" "0" "00006" "NOP56_000011" "g.2633398_2633403dup" "" "{PMID:Kobayashi 2011:21683323}" "" "" "" "Germline" "" "" "0" "" "" "g.2652752_2652757dup" "" "benign" "" "0000986056" "0" "10" "20" "2633331" "2633336" "dup" "0" "00006" "NOP56_000013" "g.2633331_2633336dup" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "rs28970277" "0" "" "" "g.2652685_2652690dup" "" "benign" "" "0000986057" "0" "10" "20" "2633331" "2633336" "del" "0" "00006" "NOP56_000014" "g.2633331_2633336del" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "rs28970277" "0" "" "" "g.2652685_2652690del" "" "benign" "" "0000986058" "1" "90" "20" "" "" "" "" "00006" "NOP56_000019" "g.2633380_2633403GGCCTG[(650_2000)]" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "repeat size shows instability and anticipation" "Germline" "yes" "" "0" "" "" "g.2652734_2652757GGCCTG[(650_2000)]" "" "pathogenic (dominant)" "" "0000986059" "1" "90" "20" "" "" "" "" "00006" "NOP56_000020" "g.2633380_2633403GGCCTG[(830_1170)]" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "repeat size shows instability and anticipation" "Germline" "yes" "" "0" "" "" "g.2652734_2652757GGCCTG[(830_1170)]" "" "pathogenic (dominant)" "" "0000986060" "1" "90" "20" "" "" "" "" "00006" "NOP56_000021" "g.2633380_2633403GGCCTG[(2500)]" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2652734_2652757GGCCTG[(2500)]" "" "pathogenic (dominant)" "" "0000986061" "1" "90" "20" "" "" "" "" "00006" "NOP56_000009" "g.2633380_2633403GGCCTG[(2000)]" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2652734_2652757GGCCTG[(2000)]" "" "pathogenic (dominant)" "" "0000986062" "1" "90" "20" "" "" "" "" "00006" "NOP56_000009" "g.2633380_2633403GGCCTG[(2000)]" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2652734_2652757GGCCTG[(2000)]" "" "pathogenic (dominant)" "" "0000986063" "1" "90" "20" "" "" "" "" "00006" "NOP56_000022" "g.2633380_2633403GGCCTG[(833)]" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2652734_2652757GGCCTG[(833)]" "" "pathogenic (dominant)" "" "0000986064" "1" "90" "20" "" "" "" "" "00006" "NOP56_000009" "g.2633380_2633403GGCCTG[(2000)]" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2652734_2652757GGCCTG[(2000)]" "" "pathogenic (dominant)" "" "0000986065" "1" "90" "20" "" "" "" "" "00006" "NOP56_000023" "g.2633380_2633403GGCCTG[(1250)]" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2652734_2652757GGCCTG[(1250)]" "" "pathogenic (dominant)" "" "0000986066" "1" "10" "20" "2633331" "2633336" "dup" "0" "00006" "NOP56_000013" "g.2633331_2633336dup" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652685_2652690dup" "" "benign" "" "0000986067" "1" "10" "20" "2633331" "2633336" "dup" "0" "00006" "NOP56_000013" "g.2633331_2633336dup" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652685_2652690dup" "" "benign" "" "0000986068" "1" "10" "20" "2633331" "2633336" "dup" "0" "00006" "NOP56_000013" "g.2633331_2633336dup" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652685_2652690dup" "" "benign" "" "0000986069" "1" "10" "20" "2633331" "2633336" "del" "0" "00006" "NOP56_000014" "g.2633331_2633336del" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652685_2652690del" "" "benign" "" "0000986070" "1" "10" "20" "2633331" "2633336" "dup" "0" "00006" "NOP56_000013" "g.2633331_2633336dup" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652685_2652690dup" "" "benign" "" "0000986071" "1" "10" "20" "2633331" "2633336" "del" "0" "00006" "NOP56_000014" "g.2633331_2633336del" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652685_2652690del" "" "benign" "" "0000986072" "1" "10" "20" "2633380" "2633380" "subst" "0.389747" "00006" "NOP56_000026" "g.2633380G>A" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652734G>A" "" "benign" "" "0000986073" "1" "10" "20" "2633380" "2633380" "subst" "0.389747" "00006" "NOP56_000026" "g.2633380G>A" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652734G>A" "" "benign" "" "0000986074" "1" "10" "20" "2633380" "2633380" "subst" "0.389747" "00006" "NOP56_000026" "g.2633380G>A" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652734G>A" "" "benign" "" "0000986075" "1" "10" "20" "2633380" "2633380" "subst" "0.389747" "00006" "NOP56_000026" "g.2633380G>A" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652734G>A" "" "benign" "" "0000986076" "1" "10" "20" "2633380" "2633380" "subst" "0.389747" "00006" "NOP56_000026" "g.2633380G>A" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652734G>A" "" "benign" "" "0000986077" "1" "10" "20" "2633386" "2633403" "dup" "0" "00006" "NOP56_000015" "g.2633386_2633403dup" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652740_2652757dup" "" "benign" "" "0000986078" "1" "10" "20" "2633386" "2633403" "dup" "0" "00006" "NOP56_000015" "g.2633386_2633403dup" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652740_2652757dup" "" "benign" "" "0000986079" "1" "10" "20" "2633417" "2633422" "del" "0" "00006" "NOP56_000027" "g.2633417_2633422del" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652771_2652776del" "" "benign" "" "0000986080" "1" "10" "20" "2633417" "2633422" "del" "0" "00006" "NOP56_000027" "g.2633417_2633422del" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652771_2652776del" "" "benign" "" "0000986081" "1" "10" "20" "2633417" "2633422" "del" "0" "00006" "NOP56_000027" "g.2633417_2633422del" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652771_2652776del" "" "benign" "" "0000986082" "1" "10" "20" "2633417" "2633422" "del" "0" "00006" "NOP56_000027" "g.2633417_2633422del" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652771_2652776del" "" "benign" "" "0000986083" "1" "10" "20" "2633417" "2633422" "del" "0" "00006" "NOP56_000027" "g.2633417_2633422del" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652771_2652776del" "" "benign" "" "0000986084" "1" "10" "20" "2633403" "2633404" "ins" "0" "00006" "NOP56_000016" "g.2633403_2633404ins2633380_2633403" "" "{PMID:Garcia-Murias 2012:22492559}" "" "" "" "Germline" "" "" "0" "" "" "g.2652757_2652758ins2652734_2652757" "" "benign" "" "0000986086" "1" "90" "20" "0" "0" "" "" "00006" "NOP56_000017" "g.2633380_2633403GGCCTG[(1200_?)]" "" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2652734_2652757GGCCTG[(1200_?)]" "" "pathogenic (dominant)" "" "0000986087" "21" "70" "20" "0" "0" "" "" "00006" "NOP56_000018" "g.2633380_2633403GGCCTG[(34_?)]" "" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "" "" "repeat expansion >34 in mother, >45 in son" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.2652734_2652757GGCCTG[(34_?)]" "" "likely pathogenic (dominant)" "" "0001043293" "0" "30" "20" "2636036" "2636036" "subst" "0.000479149" "01804" "IDH3B_000045" "g.2636036G>A" "" "" "" "NOP56(NM_006392.4):c.635G>A (p.(Arg212His))" "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 NOP56 ## Count = 84 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000247670" "00014690" "50" "3948" "0" "3948" "0" "c.*2163A>G" "r.(=)" "p.(=)" "" "" "0000277810" "00014690" "10" "2255" "0" "2255" "0" "c.*470G>C" "r.(=)" "p.(=)" "" "" "0000277811" "00014690" "30" "7403" "0" "7403" "0" "c.*5618G>C" "r.(=)" "p.(=)" "" "" "0000277812" "00014690" "10" "7410" "0" "7410" "0" "c.*5625G>T" "r.(=)" "p.(=)" "" "" "0000277813" "00014690" "10" "7046" "0" "7046" "0" "c.*5261G>A" "r.(=)" "p.(=)" "" "" "0000277814" "00014690" "10" "7022" "0" "7022" "0" "c.*5237G>A" "r.(=)" "p.(=)" "" "" "0000281460" "00014690" "10" "7252" "0" "7252" "0" "c.*5467C>G" "r.(=)" "p.(=)" "" "" "0000289342" "00014690" "30" "4326" "0" "4326" "0" "c.*2541G>A" "r.(=)" "p.(=)" "" "" "0000289343" "00014690" "30" "3977" "0" "3977" "0" "c.*2192C>T" "r.(=)" "p.(=)" "" "" "0000289344" "00014690" "30" "7451" "0" "7451" "0" "c.*5666T>C" "r.(=)" "p.(=)" "" "" "0000296518" "00014690" "10" "105" "0" "105" "0" "c.105T>C" "r.(?)" "p.(Ser35=)" "" "" "0000304253" "00014690" "50" "1693" "0" "1693" "0" "c.1693G>A" "r.(?)" "p.(Glu565Lys)" "" "" "0000304254" "00014690" "30" "948" "0" "948" "0" "c.948C>G" "r.(?)" "p.(Thr316=)" "" "" "0000569283" "00014690" "30" "3" "3" "3" "3" "c.3+3G>A" "r.spl?" "p.?" "" "" "0000569284" "00014690" "10" "3040" "0" "3040" "0" "c.*1255C>T" "r.(=)" "p.(=)" "" "" "0000569285" "00014690" "50" "4066" "0" "4066" "0" "c.*2281del" "r.(?)" "p.(=)" "" "" "0000569286" "00014690" "30" "7202" "0" "7202" "0" "c.*5417C>T" "r.(=)" "p.(=)" "" "" "0000569287" "00014690" "50" "7497" "0" "7497" "0" "c.*5712C>T" "r.(=)" "p.(=)" "" "" "0000569288" "00014690" "10" "7638" "0" "7638" "0" "c.*5853C>T" "r.(=)" "p.(=)" "" "" "0000681576" "00014690" "70" "7482" "0" "7483" "0" "c.*5697_*5698insAA" "r.(=)" "p.(=)" "" "" "0000692948" "00014690" "30" "3536" "0" "3536" "0" "c.*1751G>A" "r.(=)" "p.(=)" "" "" "0000692949" "00014690" "50" "3606" "0" "3606" "0" "c.*1821A>G" "r.(=)" "p.(=)" "" "" "0000692950" "00014690" "50" "3838" "0" "3838" "0" "c.*2053C>G" "r.(=)" "p.(=)" "" "" "0000692951" "00014690" "90" "7497" "0" "7497" "0" "c.*5712C>T" "r.(=)" "p.(=)" "" "" "0000727634" "00014690" "50" "3059" "0" "3059" "0" "c.*1274C>A" "r.(=)" "p.(=)" "" "" "0000809188" "00014690" "50" "2263" "0" "2263" "0" "c.*478G>C" "r.(=)" "p.(=)" "" "" "0000809189" "00014690" "30" "7022" "0" "7022" "0" "c.*5237G>A" "r.(=)" "p.(=)" "" "" "0000855783" "00014690" "30" "1933" "0" "1933" "0" "c.*148C>T" "r.(=)" "p.(=)" "" "" "0000855784" "00014690" "30" "7459" "0" "7459" "0" "c.*5674C>T" "r.(=)" "p.(=)" "" "" "0000866403" "00014690" "30" "3061" "0" "3061" "0" "c.*1276G>A" "r.(=)" "p.(=)" "" "" "0000866404" "00014690" "30" "7459" "0" "7459" "0" "c.*5674C>T" "r.(=)" "p.(=)" "" "" "0000895248" "00014690" "30" "371" "-5" "371" "-3" "c.371-5_371-3del" "r.spl?" "p.?" "" "" "0000895249" "00014690" "30" "1167" "0" "1167" "0" "c.1167C>T" "r.(?)" "p.(Pro389=)" "" "" "0000895250" "00014690" "30" "1575" "0" "1575" "0" "c.1575C>T" "r.(?)" "p.(Thr525=)" "" "" "0000986036" "00014690" "90" "0" "0" "0" "0" "c.3+71_4-85GGCCTG[(1800_2300)]" "r.?" "p.?" "1i" "" "0000986039" "00014690" "90" "0" "0" "0" "0" "c.3+71_4-85GGCCTG[(2200)]" "r.?" "p.?" "1i" "" "0000986040" "00014690" "90" "0" "0" "0" "0" "c.3+71_4-85GGCCTG[(2300)]" "r.?" "p.?" "1i" "" "0000986041" "00014690" "10" "3" "89" "4" "-85" "c.3+89_4-85del" "r.(=)" "p.(=)" "" "GGCCTG[3]" "0000986042" "00014690" "10" "3" "83" "4" "-85" "c.3+83_4-85dup" "r.(=)" "p.(=)" "" "GGCCTG[6]" "0000986043" "00014690" "10" "3" "83" "4" "-85" "c.3+83_4-85dup" "r.(=)" "p.(=)" "" "GGCCTG[6]" "0000986044" "00014690" "90" "0" "0" "0" "0" "c.3+71_4-85GGCCTG[(2000)]" "r.?" "p.?" "1i" "" "0000986045" "00014690" "10" "3" "83" "4" "-85" "c.3+83_4-85dup" "r.(=)" "p.(=)" "" "GGCCTG[6]" "0000986046" "00014690" "90" "0" "0" "0" "0" "c.3+71_4-85GGCCTG[(1700)]" "r.?" "p.?" "1i" "" "0000986047" "00014690" "10" "3" "83" "4" "-85" "c.3+83_4-85dup" "r.(=)" "p.(=)" "" "GGCCTG[6]" "0000986048" "00014690" "90" "0" "0" "0" "0" "c.3+71_4-85GGCCTG[(2200)]" "r.?" "p.?" "1i" "" "0000986049" "00014690" "10" "3" "89" "4" "-85" "c.3+89_4-85dup" "r.(=)" "p.(=)" "" "GGCCTG[5]" "0000986050" "00014690" "90" "0" "0" "0" "0" "c.3+71_4-85GGCCTG[(1800)]" "r.?" "p.?" "1i" "" "0000986051" "00014690" "10" "3" "83" "4" "-85" "c.3+83_4-85dup" "r.(=)" "p.(=)" "" "GGCCTG[6]" "0000986052" "00014690" "90" "0" "0" "0" "0" "c.3+71_4-85GGCCTG[(1700)]" "r.?" "p.?" "1i" "" "0000986053" "00014690" "10" "3" "71" "4" "-85" "c.3+71_4-85dup" "r.(=)" "p.(=)" "" "GGCCTG[8]" "0000986054" "00014690" "90" "0" "0" "0" "0" "c.3+71_4-85GGCCTG[(2200)]" "r.?" "p.?" "1i" "" "0000986055" "00014690" "10" "3" "89" "4" "-85" "c.3+89_4-85dup" "r.(=)" "p.(=)" "1i" "GGCCTG[5]" "0000986056" "00014690" "10" "3" "22" "3" "27" "c.3+22_3+27dup" "r.(=)" "p.(=)" "1i" "CGGGCG[3]" "0000986057" "00014690" "10" "3" "22" "3" "27" "c.3+22_3+27del" "r.(=)" "p.(=)" "1i" "CGGGCG[1]" "0000986058" "00014690" "90" "" "0" "" "0" "c.3+71_4-85GGCCTG[(650_2000)]" "r.?" "p.?" "1i" "GGCCTG[(650_2000)]" "0000986059" "00014690" "90" "" "0" "" "0" "c.3+71_4-85GGCCTG[(830_1170)]" "r.?" "p.?" "1i" "GGCCTG[(830_1170)]" "0000986060" "00014690" "90" "" "0" "" "0" "c.3+71_4-85GGCCTG[(2500)]" "r.?" "p.?" "1i" "GGCCTG[(2500)]" "0000986061" "00014690" "90" "" "0" "" "0" "c.3+71_4-85GGCCTG[(2000)]" "r.?" "p.?" "1i" "GGCCTG[(2000)]" "0000986062" "00014690" "90" "" "0" "" "0" "c.3+71_4-85GGCCTG[(2000)]" "r.?" "p.?" "1i" "GGCCTG[(2000)]" "0000986063" "00014690" "90" "" "0" "" "0" "c.3+71_4-85GGCCTG[(833)]" "r.?" "p.?" "1i" "GGCCTG[(833)]" "0000986064" "00014690" "90" "" "0" "" "0" "c.3+71_4-85GGCCTG[(2000)]" "r.?" "p.?" "1i" "GGCCTG[(2000)]" "0000986065" "00014690" "90" "" "0" "" "0" "c.3+71_4-85GGCCTG[(1250)]" "r.?" "p.?" "1i" "GGCCTG[(1250)]" "0000986066" "00014690" "10" "3" "22" "3" "27" "c.3+22_3+27dup" "r.?" "p.?" "1i" "ins-AGCCTG-GGCCTG[3]-CGCCTG[2]" "0000986067" "00014690" "10" "3" "22" "3" "27" "c.3+22_3+27dup" "r.?" "p.?" "1i" "ins-GGCCTG[4]-CGCCTG[2]" "0000986068" "00014690" "10" "3" "22" "3" "27" "c.3+22_3+27dup" "r.?" "p.?" "1i" "ins-AGCCTG-GGCCTG[3]-CGCCTG[3]" "0000986069" "00014690" "10" "3" "22" "3" "27" "c.3+22_3+27del" "r.?" "p.?" "1i" "del-AGCCTG-GGCCTG[6]-CGCCTG[2]" "0000986070" "00014690" "10" "3" "22" "3" "27" "c.3+22_3+27dup" "r.?" "p.?" "1i" "ins-AGCCTG-GGCCTG[6]-CGCCTG[2]" "0000986071" "00014690" "10" "3" "22" "3" "27" "c.3+22_3+27del" "r.?" "p.?" "1i" "del-AGCCTG-GGCCTG[7]-CGCCTG[2]" "0000986072" "00014690" "10" "3" "71" "3" "71" "c.3+71G>A" "r.(=)" "r.(=)" "1i" "ins-AGCCTG-GGCCTG[3]-CGCCTG[2]" "0000986073" "00014690" "90" "3" "71" "3" "71" "c.3+71G>A" "r.(=)" "r.(=)" "1i" "ins-AGCCTG-GGCCTG[3]-CGCCTG[3]" "0000986074" "00014690" "90" "3" "71" "3" "71" "c.3+71G>A" "r.(=)" "r.(=)" "1i" "del-AGCCTG-GGCCTG[6]-CGCCTG[2]" "0000986075" "00014690" "90" "3" "71" "3" "71" "c.3+71G>A" "r.(=)" "r.(=)" "1i" "ins-AGCCTG-GGCCTG[6]-CGCCTG[2]" "0000986076" "00014690" "90" "3" "71" "3" "71" "c.3+71G>A" "r.(=)" "r.(=)" "1i" "del-AGCCTG-GGCCTG[7]-CGCCTG[2]" "0000986077" "00014690" "10" "3" "77" "4" "-85" "c.3+77_4-85dup" "r.(=)" "r.(=)" "1i" "del-AGCCTG-GGCCTG[6]-CGCCTG[2]" "0000986078" "00014690" "10" "3" "77" "4" "-85" "c.3+77_4-85dup" "r.(=)" "r.(=)" "1i" "ins-AGCCTG-GGCCTG[6]-CGCCTG[2]" "0000986079" "00014690" "10" "4" "-72" "4" "-67" "c.4-72_4-67del" "r.(=)" "r.(=)" "1i" "ins-AGCCTG-GGCCTG[3]-CGCCTG[2]" "0000986080" "00014690" "10" "4" "-72" "4" "-67" "c.4-72_4-67del" "r.(=)" "r.(=)" "1i" "ins-GGCCTG[4]-CGCCTG[2]" "0000986081" "00014690" "10" "4" "-72" "4" "-67" "c.4-72_4-67del" "r.(=)" "r.(=)" "1i" "del-AGCCTG-GGCCTG[6]-CGCCTG[2]" "0000986082" "00014690" "10" "4" "-72" "4" "-67" "c.4-72_4-67del" "r.(=)" "r.(=)" "1i" "ins-AGCCTG-GGCCTG[6]-CGCCTG[2]" "0000986083" "00014690" "10" "4" "-72" "4" "-67" "c.4-72_4-67del" "r.(=)" "r.(=)" "1i" "del-AGCCTG-GGCCTG[7]-CGCCTG[2]" "0000986084" "00014690" "10" "4" "-85" "4" "-84" "c.4-85_4-84ins_3+71_4-85" "r.(=)" "p.(=)" "1i" "del-AGCCTG-GGCCTG[7]-CGCCTG[2]" "0000986086" "00014690" "90" "0" "0" "0" "0" "c.3+71_4-85GGCCTG[(1200_?)]" "r.?" "p.?" "1i" "GGCCTG[(1200_?)]" "0000986087" "00014690" "70" "0" "0" "0" "0" "c.3+71_4-85GGCCTG[(34_?)]" "r.?" "p.?" "1i" "GGCCTG[(34_?)]" "0001043293" "00014690" "30" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 49 "{{screeningid}}" "{{variantid}}" "0000452084" "0000986036" "0000452084" "0000986043" "0000452085" "0000986039" "0000452085" "0000986042" "0000452086" "0000986040" "0000452086" "0000986041" "0000452087" "0000986044" "0000452087" "0000986045" "0000452088" "0000986046" "0000452088" "0000986047" "0000452089" "0000986048" "0000452089" "0000986049" "0000452090" "0000986050" "0000452090" "0000986051" "0000452091" "0000986052" "0000452091" "0000986053" "0000452092" "0000986054" "0000452092" "0000986055" "0000452093" "0000986056" "0000452094" "0000986057" "0000452095" "0000986058" "0000452096" "0000986059" "0000452097" "0000986060" "0000452098" "0000986061" "0000452099" "0000986062" "0000452100" "0000986063" "0000452101" "0000986064" "0000452102" "0000986065" "0000452103" "0000986066" "0000452103" "0000986072" "0000452103" "0000986079" "0000452104" "0000986067" "0000452104" "0000986080" "0000452105" "0000986068" "0000452105" "0000986073" "0000452106" "0000986069" "0000452106" "0000986074" "0000452106" "0000986077" "0000452106" "0000986081" "0000452107" "0000986070" "0000452107" "0000986075" "0000452107" "0000986078" "0000452107" "0000986082" "0000452108" "0000986071" "0000452108" "0000986076" "0000452108" "0000986083" "0000452108" "0000986084" "0000452109" "0000986086" "0000452110" "0000986087"