### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ANGPT2) # 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}}" "ANGPT2" "angiopoietin 2" "8" "p23" "unknown" "NC_000008.10" "UD_132118907015" "" "https://www.LOVD.nl/ANGPT2" "" "1" "485" "285" "601922" "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/ANGPT2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-29 09:33:00" "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}}" "00025700" "ANGPT2" "transcript variant 2" "002" "NM_001118887.1" "" "NP_001112359.1" "" "" "" "-329" "4938" "1488" "6420784" "6357172" "00006" "2022-03-21 10:00:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "" "" "00050" "hydrops fetalis" "hydrops fetalis" "" "" "" "" "" "00008" "2012-08-30 17:43:12" "00006" "2022-12-29 09:13:22" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05780" "LMPHM" "lymphatic malformation (LMPHM)" "" "" "" "" "" "00006" "2020-07-09 16:12:34" "" "" "06903" "LMPHM10" "lymphatic malformation, type 10" "AD" "619369" "" "" "" "00006" "2022-03-21 10:04:34" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ANGPT2" "00050" "ANGPT2" "05780" "ANGPT2" "06903" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00405714" "" "" "" "4" "" "04271" "{PMID:Smeland 2021:34876502}" "3-generation family, 4 affected fetuses,, unaffected heterozygous carrier parent" "M" "yes" "Norway" "<00y00m00d" "0" "" "" "Asia-C" "FetusIII4" "00405715" "" "" "00405714" "1" "" "04271" "{PMID:Smeland 2021:34876502}" "fetus" "F" "yes" "Norway" "<0d" "0" "" "" "Asia-C" "FetusIII5" "00405716" "" "" "00405714" "1" "" "04271" "{PMID:Smeland 2021:34876502}" "fetus" "M" "yes" "Norway" "<0d" "0" "" "" "Asia-C" "FetusIII7" "00405717" "" "" "00405714" "1" "" "04271" "{PMID:Smeland 2021:34876502}" "fetus" "M" "yes" "Norway" "<0d" "0" "" "" "Asia-C" "FetusIII8" "00405719" "" "" "" "2" "" "00006" "{PMID:Smeland 2021:34876502}" "parents of fetuses III4-III8" "F;M" "" "Norway" "" "0" "" "" "Asia-C" "parents" "00405725" "" "" "" "1" "" "04271" "{PMID:Leppanen 2020:32908006}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Belgium" "" "0" "" "" "" "LE-851-10" "00405726" "" "" "" "2" "" "04271" "{PMID:Leppanen 2020:32908006}" "2-generation family, affected father/daughter" "F;M" "" "Italy" "" "0" "" "" "" "LE-128-10" "00405727" "" "" "" "1" "" "04271" "{PMID:Leppanen 2020:32908006}" "2-generation family, affected son/carrier father" "M" "" "Israel" "" "0" "" "" "" "LE-65-10" "00405728" "" "" "" "3" "" "04271" "{PMID:Leppanen 2020:32908006}" "3-generation family, affected grandfather/father/son" "M" "" "Italy" "" "0" "" "" "" "LE-148-1000" "00405729" "" "" "" "1" "" "04271" "{PMID:Leppanen 2020:32908006}" "2-generation family, affected daughter/carrier mother" "F" "" "Italy" "" "0" "" "" "" "LE-623-10" "00428276" "" "" "" "4" "" "00006" "{PMID:Smeland 2023:34876502}" "3-generation family, 14affected, fetuses (F, 3M) unaffected heterozygous carrier parents/relatives" "M" "yes" "Norway" "<00y00m00d" "0" "" "" "Asia-C" "FamPatIII4" "00428277" "" "" "00428276" "1" "" "00006" "{PMID:Smeland 2023:34876502}" "fetus" "F" "yes" "Norway" "<00y00m00d" "0" "" "" "Asia-C" "FamPatIII5" "00428278" "" "" "00428276" "1" "" "00006" "{PMID:Smeland 2023:34876502}" "fetus" "M" "yes" "Norway" "<00y00m00d" "0" "" "" "Asia-C" "FamPatIII7" "00428279" "" "" "00428276" "1" "" "00006" "{PMID:Smeland 2023:34876502}" "fetus" "M" "yes" "Norway" "<00y00m00d" "0" "" "" "Asia-C" "FamPatIII8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00405714" "00198" "00405715" "00198" "00405716" "00198" "00405717" "00198" "00405719" "00000" "00405725" "05780" "00405726" "05780" "00405727" "05780" "00405728" "05780" "00405729" "05780" "00428276" "00050" "00428277" "00050" "00428278" "00050" "00428279" "00050" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00050, 00198, 05780, 06903 ## Count = 13 "{{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}}" "0000298217" "00198" "00405714" "04271" "Familial, autosomal recessive" "<0d" "severe, progressive hydrops, 24w-intrauterine fetal death; 11w ultra sound normal, no measurement nuchal translucency; 19w+5 last menstrual period; 17w ultra sound screening hydrothorax, ascites, subcutaneous fluid; postmortem examination; Tetralogy of Fallot; 2-week discrepancy estimated due date from last menstrual period and from ultra-sound; no observed increase in number of lymphatic vessels; hydropic placenta, thick (3 cm), oedematous, weight 360 g" "<0d" "" "" "" "" "" "" "" "" "non-immune hydrops fetalis" "" "0000298218" "00198" "00405715" "04271" "Familial, autosomal recessive" "<0d" "severe, progressive hydrops, 27w-intrauterine fetal death; 12w+3 ultra sound nuchal translucency 5.0, cystic hygroma subcutaneous fluid; 16w ultra sound hydrothorax, subcutaneous fluid, cystic hygroma; 26w ascites; postmortem examination; no cardiac anomalies; short long bones, bell-shaped thorax (due to hydrothorax/hypoplastic lungs; no observed increase in number of lymphatic vessels; hydropic placenta, thick (2,9 cm), weight 440 g, abnormal vascular architecture/proliferation vessels" "<0d" "" "" "" "" "" "" "" "" "non-immune hydrops fetalis" "" "0000298219" "00198" "00405716" "04271" "Familial, autosomal recessive" "<0d" "early detected severe hydrops, 14w-termination of pregnancy; 12w+4 ultra sound cystic hygroma, subcutaneous fluid; 14w+4 ultra sound cystic hygroma and hydrothorax; no postmortem examination" "<0d" "" "" "" "" "" "" "" "" "non-immune hydrops fetalis" "" "0000298220" "00198" "00405717" "04271" "Familial, autosomal recessive" "<0d" "early detected severe hydrops, 14w-spontaneous abortion; 11w+0 ultra sound nuchal translucency 3.7, generalised subcutaneous fluid, cystic hygroma; 12w+1 ultra sound nuchal translucency 6-7 mm; no postmortem examination" "<0d" "" "" "" "" "" "" "" "" "non-immune hydrops fetalis" "" "0000298222" "05780" "00405725" "04271" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "LMPHM10" "primary lymphedema" "" "0000298223" "05780" "00405726" "04271" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "LMPHM10" "primary lymphedema" "" "0000298224" "05780" "00405727" "04271" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "LMPHM10" "primary lymphedema" "" "0000298225" "05780" "00405728" "04271" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "LMPHM10" "primary lymphedema" "" "0000298226" "05780" "00405729" "04271" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "LMPHM10" "primary lymphedema" "" "0000319181" "00050" "00428276" "00006" "Familial, autosomal recessive" "<0d" "pregnancy severe, progressive hydrops, 24w-intrauterine fetal death; ultrasound 11w-normal, 19w+5 last menstrual period, 17w-screening hydrothorax, ascites, subcutaneous fluid; postmortem examination tetralogy of Fallot, 2w discrepancy estimated due date from last menstrual period and ultrasound, no observed increase in number of lymphatic vessels, hydropic placenta, thick (3cm), oedematous, weight 360g" "" "" "" "" "" "" "" "" "" "hydrops fetalis" "" "0000319182" "00050" "00428277" "00006" "Familial, autosomal recessive" "<0d" "pregnancy severe, progressive hydrops, 27w-intrauterine fetal death; ultrasound 12w+3-nuchal translucency 5.0, cystic hygroma subcutaneous fluid, 16w-hydrothorax, subcutaneous fluid, cystic hygroma, 26w-ascites; postmortem examination no cardiac abnormalities; short long bones, bell-shaped thorax (due to hydrothorax/hypoplastic lungs); no observed increase in number of lymphatic vessels; hydropic placenta, thick (2.9cm), weight 440g, abnormal vascular architecture/proliferation vessels" "" "" "" "" "" "" "" "" "" "hydrops fetalis" "" "0000319183" "00050" "00428278" "00006" "Familial, autosomal recessive" "<0d" "14w-termination of pregnancy; pregnancy early detected severe hydrops; ultrasound 12w+4-cystic hygroma, subcutaneous fluid, 14w+4 cystic hygroma and hydrothorax" "" "" "" "" "" "" "" "" "" "hydrops fetalis" "" "0000319184" "00050" "00428279" "00006" "Familial, autosomal recessive" "<0d" "14w-spontaneous abortion; pregnancy early detected severe hydrops; ultrasound 11w+0 nuchal translucency 3.7, generalised subcutaneous fluid, cystic hygroma, 12w+1 nuchal translucency 6-7 mm" "" "" "" "" "" "" "" "" "" "hydrops fetalis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000406954" "00405714" "1" "04271" "00006" "2022-03-21 10:19:15" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000406955" "00405715" "1" "04271" "00006" "2022-03-21 10:19:15" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000406956" "00405716" "1" "04271" "00006" "2022-03-21 10:19:15" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000406957" "00405717" "1" "04271" "00006" "2022-03-21 10:19:15" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000406959" "00405719" "1" "00006" "00006" "2022-03-21 12:49:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000406965" "00405725" "1" "04271" "00006" "2022-03-21 14:08:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000406966" "00405726" "1" "04271" "00006" "2022-03-21 14:08:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000406967" "00405727" "1" "04271" "00006" "2022-03-21 14:08:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000406968" "00405728" "1" "04271" "00006" "2022-03-21 14:08:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000406969" "00405729" "1" "04271" "00006" "2022-03-21 14:08:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000429687" "00428276" "1" "00006" "00006" "2022-12-29 09:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429688" "00428277" "1" "00006" "00006" "2022-12-29 09:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429689" "00428278" "1" "00006" "00006" "2022-12-29 09:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429690" "00428279" "1" "00006" "00006" "2022-12-29 09:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000406959" "ANGPT2" "0000406965" "ANGPT2" "0000406966" "ANGPT2" "0000406967" "ANGPT2" "0000406968" "ANGPT2" "0000406969" "ANGPT2" ## 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 = 161 "{{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}}" "0000246697" "0" "10" "8" "6371291" "6371291" "subst" "0.0777568" "02330" "MCPH1_000038" "g.6371291A>G" "" "" "" "ANGPT2(NM_001147.3):c.1107T>C (p.Y369=), MCPH1(NM_024596.5):c.2214+13841A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6513770A>G" "" "benign" "" "0000246732" "0" "10" "8" "6390027" "6390027" "subst" "0.368339" "02330" "MCPH1_000061" "g.6390027A>G" "" "" "" "ANGPT2(NM_001147.3):c.289-19T>C, MCPH1(NM_024596.5):c.2214+32577A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6532506A>G" "" "benign" "" "0000247980" "0" "10" "8" "6302418" "6302418" "subst" "0.998216" "02325" "MCPH1_000024" "g.6302418A>G" "" "" "" "MCPH1(NM_001172574.2):c.1175A>G (p.D392G), MCPH1(NM_024596.4):c.1175A>G (p.D392G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444897A>G" "" "benign" "" "0000253241" "0" "10" "8" "6302418" "6302418" "subst" "0.998216" "01943" "MCPH1_000024" "g.6302418A>G" "" "" "" "MCPH1(NM_001172574.2):c.1175A>G (p.D392G), MCPH1(NM_024596.4):c.1175A>G (p.D392G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444897A>G" "" "benign" "" "0000253728" "0" "10" "8" "6302232" "6302232" "subst" "0.000825861" "01943" "MCPH1_000022" "g.6302232A>G" "" "" "" "MCPH1(NM_001322042.1):c.989A>G (p.Y330C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444711A>G" "" "benign" "" "0000253824" "0" "10" "8" "6266785" "6266785" "subst" "0.0100085" "01943" "MCPH1_000057" "g.6266785A>G" "" "" "" "MCPH1(NM_024596.4):c.23-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6409264A>G" "" "benign" "" "0000254375" "0" "30" "8" "6302469" "6302469" "subst" "0.000235604" "01943" "MCPH1_000060" "g.6302469A>T" "" "" "" "MCPH1(NM_024596.4):c.1226A>T (p.E409V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444948A>T" "" "likely benign" "" "0000254523" "0" "30" "8" "6302033" "6302033" "subst" "0.0100568" "01943" "MCPH1_000018" "g.6302033A>G" "" "" "" "MCPH1(NM_024596.4):c.790A>G (p.I264V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444512A>G" "" "likely benign" "" "0000255032" "0" "30" "8" "6479161" "6479161" "subst" "0.00256729" "01943" "MCPH1_000048" "g.6479161A>G" "" "" "" "MCPH1(NM_024596.4):c.2401A>G (p.S801G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621640A>G" "" "likely benign" "" "0000255893" "0" "50" "8" "6272353" "6272353" "subst" "0.00205923" "01943" "MCPH1_000058" "g.6272353A>G" "" "" "" "MCPH1(NM_024596.4):c.182A>G (p.D61G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6414832A>G" "" "VUS" "" "0000256159" "0" "50" "8" "6302112" "6302112" "subst" "8.12916E-6" "01943" "MCPH1_000059" "g.6302112A>G" "" "" "" "MCPH1(NM_024596.4):c.869A>G (p.K290R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444591A>G" "" "VUS" "" "0000257701" "0" "10" "8" "6389889" "6389889" "subst" "0.333771" "02330" "MCPH1_000042" "g.6389889C>G" "" "" "" "ANGPT2(NM_001147.2):c.408G>C (p.A136=), ANGPT2(NM_001147.3):c.408G>C (p.A136=), MCPH1(NM_024596.5):c.2214+32439C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6532368C>G" "" "benign" "" "0000262447" "0" "10" "8" "6389889" "6389889" "subst" "0.333771" "01943" "MCPH1_000042" "g.6389889C>G" "" "" "" "ANGPT2(NM_001147.2):c.408G>C (p.A136=), ANGPT2(NM_001147.3):c.408G>C (p.A136=), MCPH1(NM_024596.5):c.2214+32439C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6532368C>G" "" "benign" "" "0000279629" "0" "10" "8" "6377433" "6377433" "subst" "0.264392" "02330" "MCPH1_000039" "g.6377433C>T" "" "" "" "ANGPT2(NM_001147.3):c.882G>A (p.T294=), MCPH1(NM_024596.5):c.2214+19983C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6519912C>T" "" "benign" "" "0000279630" "0" "10" "8" "6378763" "6378763" "subst" "0.340975" "02330" "MCPH1_000040" "g.6378763C>T" "" "" "" "ANGPT2(NM_001147.3):c.735G>A (p.Q245=), MCPH1(NM_024596.5):c.2214+21313C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6521242C>T" "" "benign" "" "0000279631" "0" "10" "8" "6378784" "6378784" "subst" "0.0643933" "02330" "MCPH1_000041" "g.6378784C>A" "" "" "" "ANGPT2(NM_001147.3):c.714G>T (p.T238=), MCPH1(NM_024596.5):c.2214+21334C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6521263C>A" "" "benign" "" "0000279632" "0" "10" "8" "6389889" "6389889" "subst" "0.29956" "02330" "MCPH1_000043" "g.6389889C>A" "" "" "" "ANGPT2(NM_001147.3):c.408G>T (p.A136=), MCPH1(NM_024596.5):c.2214+32439C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6532368C>A" "" "benign" "" "0000282416" "0" "10" "8" "6478986" "6478986" "subst" "0.427398" "02325" "MCPH1_000045" "g.6478986C>T" "" "" "" "MCPH1(NM_024596.4):c.2226C>T (p.S742=), MCPH1(NM_024596.5):c.2226C>T (p.S742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621465C>T" "" "benign" "" "0000282417" "0" "10" "8" "6479042" "6479042" "subst" "0.433063" "02325" "MCPH1_000046" "g.6479042C>T" "" "" "" "MCPH1(NM_024596.4):c.2282C>T (p.A761V), MCPH1(NM_024596.5):c.2282C>T (p.A761V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621521C>T" "" "benign" "" "0000282418" "0" "10" "8" "6272399" "6272399" "subst" "0.779479" "02325" "MCPH1_000008" "g.6272399G>T" "" "" "" "MCPH1(NM_001172574.2):c.228G>T (p.V76=), MCPH1(NM_024596.4):c.228G>T (p.V76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6414878G>T" "" "benign" "" "0000282419" "0" "10" "8" "6479178" "6479178" "subst" "0.364537" "02325" "MCPH1_000049" "g.6479178C>A" "" "" "" "MCPH1(NM_024596.4):c.2418C>A (p.A806=), MCPH1(NM_024596.5):c.2418C>A (p.A806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621657C>A" "" "benign" "" "0000282420" "0" "10" "8" "6500544" "6500544" "subst" "0.286029" "02325" "MCPH1_000052" "g.6500544C>T" "" "" "" "MCPH1(NM_024596.4):c.2482C>T (p.P828S), MCPH1(NM_024596.5):c.2482C>T (p.P828S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6643023C>T" "" "benign" "" "0000282421" "0" "10" "8" "6296550" "6296550" "subst" "0.968747" "02325" "MCPH1_000012" "g.6296550G>T" "" "" "" "MCPH1(NM_001172574.2):c.513G>T (p.R171S), MCPH1(NM_024596.4):c.513G>T (p.R171S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6439029G>T" "" "benign" "" "0000282422" "0" "10" "8" "6302154" "6302154" "subst" "0.113344" "02325" "MCPH1_000020" "g.6302154G>T" "" "" "" "MCPH1(NM_001172574.2):c.911G>T (p.R304I), MCPH1(NM_024596.4):c.911G>T (p.R304I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444633G>T" "" "benign" "" "0000282423" "0" "10" "8" "6302183" "6302183" "subst" "0.780863" "02325" "MCPH1_000021" "g.6302183G>C" "" "" "" "MCPH1(NM_001172574.2):c.940G>C (p.D314H), MCPH1(NM_024596.4):c.940G>C (p.D314H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444662G>C" "" "benign" "" "0000291615" "0" "30" "8" "6264179" "6264179" "subst" "1.26419E-5" "01943" "MCPH1_000004" "g.6264179G>C" "" "" "" "MCPH1(NM_024596.4):c.-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6406658G>C" "" "likely benign" "" "0000291616" "0" "30" "8" "6302391" "6302391" "subst" "0" "01943" "MCPH1_000023" "g.6302391C>G" "" "" "" "MCPH1(NM_024596.4):c.1148C>G (p.P383R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444870C>G" "" "likely benign" "" "0000291617" "0" "50" "8" "6272299" "6272299" "subst" "2.43748E-5" "01943" "MCPH1_000007" "g.6272299T>C" "" "" "" "MCPH1(NM_024596.4):c.128T>C (p.F43S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6414778T>C" "" "VUS" "" "0000291618" "0" "30" "8" "6302594" "6302594" "subst" "0.00125121" "01943" "MCPH1_000025" "g.6302594G>A" "" "" "" "MCPH1(NM_024596.4):c.1351G>A (p.E451K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445073G>A" "" "likely benign" "" "0000291619" "0" "30" "8" "6302612" "6302612" "subst" "0.000743443" "01943" "MCPH1_000026" "g.6302612G>A" "" "" "" "MCPH1(NM_024596.4):c.1369G>A (p.E457K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445091G>A" "" "likely benign" "" "0000291620" "0" "10" "8" "6302671" "6302671" "subst" "0.0797795" "01943" "MCPH1_000028" "g.6302671C>T" "" "" "" "MCPH1(NM_024596.4):c.1428C>T (p.F476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445150C>T" "" "benign" "" "0000291621" "0" "30" "8" "6302794" "6302794" "subst" "3.65565E-5" "01943" "MCPH1_000030" "g.6302794C>T" "" "" "" "MCPH1(NM_024596.4):c.1551C>T (p.D517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445273C>T" "" "likely benign" "" "0000291622" "0" "50" "8" "6302922" "6302922" "subst" "0.000121882" "01943" "MCPH1_000032" "g.6302922G>T" "" "" "" "MCPH1(NM_024596.4):c.1679G>T (p.S560I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445401G>T" "" "VUS" "" "0000291623" "0" "10" "8" "6302962" "6302962" "subst" "0.00316682" "01943" "MCPH1_000033" "g.6302962C>T" "" "" "" "MCPH1(NM_024596.4):c.1719C>T (p.S573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445441C>T" "" "benign" "" "0000291624" "0" "30" "8" "6302971" "6302971" "subst" "0.0430136" "01943" "MCPH1_000034" "g.6302971C>T" "" "" "" "MCPH1(NM_024596.4):c.1728C>T (p.G576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445450C>T" "" "likely benign" "" "0000291625" "0" "30" "8" "6303024" "6303024" "subst" "0.000633776" "01943" "MCPH1_000035" "g.6303024C>T" "" "" "" "MCPH1(NM_024596.4):c.1781C>T (p.T594M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445503C>T" "" "likely benign" "" "0000291626" "0" "10" "8" "6303025" "6303025" "subst" "0.262334" "01943" "MCPH1_000001" "g.6303025G>A" "" "" "" "MCPH1(NM_024596.4):c.1782G>A (p.T594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445504G>A" "" "benign" "" "0000291627" "0" "10" "8" "6338306" "6338306" "subst" "0.14928" "01943" "MCPH1_000036" "g.6338306C>A" "" "" "" "MCPH1(NM_024596.4):c.2045C>A (p.T682N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6480785C>A" "" "benign" "" "0000291628" "0" "50" "8" "6357446" "6357446" "subst" "0.00011778" "01943" "MCPH1_000037" "g.6357446C>G" "" "" "" "MCPH1(NM_024596.4):c.2210C>G (p.A737G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6499925C>G" "" "VUS" "" "0000291629" "0" "10" "8" "6478960" "6478960" "subst" "0.24404" "01943" "MCPH1_000044" "g.6478960C>G" "" "" "" "MCPH1(NM_024596.4):c.2215-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621439C>G" "" "benign" "" "0000291630" "0" "10" "8" "6478986" "6478986" "subst" "0.427398" "01943" "MCPH1_000045" "g.6478986C>T" "" "" "" "MCPH1(NM_024596.4):c.2226C>T (p.S742=), MCPH1(NM_024596.5):c.2226C>T (p.S742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621465C>T" "" "benign" "" "0000291631" "0" "10" "8" "6479042" "6479042" "subst" "0.433063" "01943" "MCPH1_000046" "g.6479042C>T" "" "" "" "MCPH1(NM_024596.4):c.2282C>T (p.A761V), MCPH1(NM_024596.5):c.2282C>T (p.A761V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621521C>T" "" "benign" "" "0000291632" "0" "10" "8" "6272399" "6272399" "subst" "0.779479" "01943" "MCPH1_000008" "g.6272399G>T" "" "" "" "MCPH1(NM_001172574.2):c.228G>T (p.V76=), MCPH1(NM_024596.4):c.228G>T (p.V76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6414878G>T" "" "benign" "" "0000291633" "0" "10" "8" "6266774" "6266774" "subst" "0.250248" "01943" "MCPH1_000005" "g.6266774G>A" "" "" "" "MCPH1(NM_024596.4):c.23-26G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6409253G>A" "" "benign" "" "0000291634" "0" "10" "8" "6479160" "6479160" "subst" "0.00623527" "01943" "MCPH1_000047" "g.6479160C>T" "" "" "" "MCPH1(NM_024596.4):c.2400C>T (p.Y800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621639C>T" "" "benign" "" "0000291635" "0" "10" "8" "6479178" "6479178" "subst" "0.364537" "01943" "MCPH1_000049" "g.6479178C>A" "" "" "" "MCPH1(NM_024596.4):c.2418C>A (p.A806=), MCPH1(NM_024596.5):c.2418C>A (p.A806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621657C>A" "" "benign" "" "0000291636" "0" "70" "8" "6479205" "6479205" "subst" "0" "01943" "MCPH1_000050" "g.6479205G>A" "" "" "" "MCPH1(NM_024596.4):c.2445G>A (p.W815*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621684G>A" "" "likely pathogenic" "" "0000291637" "0" "10" "8" "6500501" "6500501" "subst" "0.00208616" "01943" "MCPH1_000051" "g.6500501C>T" "" "" "" "MCPH1(NM_024596.4):c.2453-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6642980C>T" "" "benign" "" "0000291638" "0" "10" "8" "6500544" "6500544" "subst" "0.286029" "01943" "MCPH1_000052" "g.6500544C>T" "" "" "" "MCPH1(NM_024596.4):c.2482C>T (p.P828S), MCPH1(NM_024596.5):c.2482C>T (p.P828S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6643023C>T" "" "benign" "" "0000291639" "0" "30" "8" "6289091" "6289091" "subst" "0.000540253" "01943" "MCPH1_000009" "g.6289091G>C" "" "" "" "MCPH1(NM_024596.4):c.305G>C (p.S102T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6431570G>C" "" "likely benign" "" "0000291640" "0" "30" "8" "6293680" "6293680" "subst" "0.00126966" "01943" "MCPH1_000010" "g.6293680C>T" "" "" "" "MCPH1(NM_024596.4):c.433C>T (p.L145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6436159C>T" "" "likely benign" "" "0000291641" "0" "10" "8" "6296550" "6296550" "subst" "0.968747" "01943" "MCPH1_000012" "g.6296550G>T" "" "" "" "MCPH1(NM_001172574.2):c.513G>T (p.R171S), MCPH1(NM_024596.4):c.513G>T (p.R171S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6439029G>T" "" "benign" "" "0000291642" "0" "70" "8" "6296618" "6296618" "subst" "0" "01943" "MCPH1_000013" "g.6296618G>A" "" "" "" "MCPH1(NM_001322042.1):c.580+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6439097G>A" "" "likely pathogenic" "" "0000291643" "0" "10" "8" "6299559" "6299559" "subst" "0.0100469" "01943" "MCPH1_000014" "g.6299559C>A" "" "" "" "MCPH1(NM_024596.4):c.581-29C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6442038C>A" "" "benign" "" "0000291644" "0" "10" "8" "6299641" "6299641" "subst" "0.00365747" "01943" "MCPH1_000016" "g.6299641G>A" "" "" "" "MCPH1(NM_001172574.1):c.634G>A (p.(Ala212Thr)), MCPH1(NM_024596.4):c.634G>A (p.A212T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6442120G>A" "" "benign" "" "0000291645" "0" "10" "8" "6299654" "6299654" "subst" "0.00258099" "01943" "MCPH1_000017" "g.6299654T>C" "" "" "" "MCPH1(NM_024596.4):c.647T>C (p.I216T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6442133T>C" "" "benign" "" "0000291646" "0" "50" "8" "6266866" "6266866" "subst" "8.12249E-6" "01943" "MCPH1_000006" "g.6266866C>T" "" "" "" "MCPH1(NM_024596.4):c.89C>T (p.T30I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6409345C>T" "" "VUS" "" "0000291647" "0" "10" "8" "6302154" "6302154" "subst" "0.113344" "01943" "MCPH1_000020" "g.6302154G>T" "" "" "" "MCPH1(NM_001172574.2):c.911G>T (p.R304I), MCPH1(NM_024596.4):c.911G>T (p.R304I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444633G>T" "" "benign" "" "0000291648" "0" "10" "8" "6302183" "6302183" "subst" "0.780863" "01943" "MCPH1_000021" "g.6302183G>C" "" "" "" "MCPH1(NM_001172574.2):c.940G>C (p.D314H), MCPH1(NM_024596.4):c.940G>C (p.D314H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444662G>C" "" "benign" "" "0000332000" "0" "50" "8" "6296482" "6296482" "subst" "0.000272624" "01804" "MCPH1_000011" "g.6296482G>A" "" "" "" "MCPH1(NM_001172574.1):c.445G>A (p.(Val149Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6438961G>A" "" "VUS" "" "0000332001" "0" "50" "8" "6299617" "6299617" "subst" "1.62525E-5" "01804" "MCPH1_000015" "g.6299617A>G" "" "" "" "MCPH1(NM_001172574.1):c.610A>G (p.(Asn204Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6442096A>G" "" "VUS" "" "0000332004" "0" "30" "8" "6302646" "6302646" "subst" "0.00052812" "01804" "MCPH1_000027" "g.6302646C>A" "" "" "" "MCPH1(NM_001172574.1):c.1403C>A (p.(Thr468Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445125C>A" "" "likely benign" "" "0000340342" "0" "10" "8" "6302671" "6302671" "subst" "0.0797795" "02327" "MCPH1_000028" "g.6302671C>T" "" "" "" "MCPH1(NM_024596.4):c.1428C>T (p.F476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445150C>T" "" "benign" "" "0000340345" "0" "10" "8" "6302962" "6302962" "subst" "0.00316682" "02327" "MCPH1_000033" "g.6302962C>T" "" "" "" "MCPH1(NM_024596.4):c.1719C>T (p.S573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445441C>T" "" "benign" "" "0000340346" "0" "10" "8" "6302971" "6302971" "subst" "0.0430136" "02327" "MCPH1_000034" "g.6302971C>T" "" "" "" "MCPH1(NM_024596.4):c.1728C>T (p.G576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445450C>T" "" "benign" "" "0000340348" "0" "10" "8" "6303025" "6303025" "subst" "0.262334" "02327" "MCPH1_000001" "g.6303025G>A" "" "" "" "MCPH1(NM_024596.4):c.1782G>A (p.T594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445504G>A" "" "benign" "" "0000340356" "0" "10" "8" "6479178" "6479178" "subst" "0.364537" "02327" "MCPH1_000049" "g.6479178C>A" "" "" "" "MCPH1(NM_024596.4):c.2418C>A (p.A806=), MCPH1(NM_024596.5):c.2418C>A (p.A806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621657C>A" "" "benign" "" "0000340972" "0" "10" "8" "6478986" "6478986" "subst" "0.427398" "02327" "MCPH1_000045" "g.6478986C>T" "" "" "" "MCPH1(NM_024596.4):c.2226C>T (p.S742=), MCPH1(NM_024596.5):c.2226C>T (p.S742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621465C>T" "" "benign" "" "0000341266" "0" "10" "8" "6299641" "6299641" "subst" "0.00365747" "02327" "MCPH1_000016" "g.6299641G>A" "" "" "" "MCPH1(NM_001172574.1):c.634G>A (p.(Ala212Thr)), MCPH1(NM_024596.4):c.634G>A (p.A212T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6442120G>A" "" "benign" "" "0000341587" "0" "10" "8" "6479042" "6479042" "subst" "0.433063" "02327" "MCPH1_000046" "g.6479042C>T" "" "" "" "MCPH1(NM_024596.4):c.2282C>T (p.A761V), MCPH1(NM_024596.5):c.2282C>T (p.A761V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621521C>T" "" "benign" "" "0000342586" "0" "10" "8" "6302154" "6302154" "subst" "0.113344" "02327" "MCPH1_000020" "g.6302154G>T" "" "" "" "MCPH1(NM_001172574.2):c.911G>T (p.R304I), MCPH1(NM_024596.4):c.911G>T (p.R304I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444633G>T" "" "benign" "" "0000344055" "0" "10" "8" "6302183" "6302183" "subst" "0.780863" "02327" "MCPH1_000021" "g.6302183G>C" "" "" "" "MCPH1(NM_001172574.2):c.940G>C (p.D314H), MCPH1(NM_024596.4):c.940G>C (p.D314H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444662G>C" "" "benign" "" "0000344081" "0" "10" "8" "6302418" "6302418" "subst" "0.998216" "02327" "MCPH1_000024" "g.6302418A>G" "" "" "" "MCPH1(NM_001172574.2):c.1175A>G (p.D392G), MCPH1(NM_024596.4):c.1175A>G (p.D392G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444897A>G" "" "benign" "" "0000348347" "0" "10" "8" "6302106" "6302106" "subst" "0.026837" "02327" "MCPH1_000055" "g.6302106C>A" "" "" "" "MCPH1(NM_024596.4):c.863C>A (p.P288H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444585C>A" "" "benign" "" "0000348586" "0" "10" "8" "6500544" "6500544" "subst" "0.286029" "02327" "MCPH1_000052" "g.6500544C>T" "" "" "" "MCPH1(NM_024596.4):c.2482C>T (p.P828S), MCPH1(NM_024596.5):c.2482C>T (p.P828S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6643023C>T" "" "benign" "" "0000349177" "0" "10" "8" "6479161" "6479161" "subst" "0.00256729" "02327" "MCPH1_000048" "g.6479161A>G" "" "" "" "MCPH1(NM_024596.4):c.2401A>G (p.S801G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621640A>G" "" "benign" "" "0000349604" "0" "10" "8" "6338306" "6338306" "subst" "0.14928" "02327" "MCPH1_000036" "g.6338306C>A" "" "" "" "MCPH1(NM_024596.4):c.2045C>A (p.T682N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6480785C>A" "" "benign" "" "0000349833" "0" "90" "8" "6272350" "6272350" "subst" "0" "02327" "MCPH1_000053" "g.6272350G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6414829G>A" "" "pathogenic" "" "0000350658" "0" "10" "8" "6272399" "6272399" "subst" "0.779479" "02327" "MCPH1_000008" "g.6272399G>T" "" "" "" "MCPH1(NM_001172574.2):c.228G>T (p.V76=), MCPH1(NM_024596.4):c.228G>T (p.V76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6414878G>T" "" "benign" "" "0000351319" "0" "10" "8" "6478956" "6478956" "subst" "0.446477" "02327" "MCPH1_000056" "g.6478956A>G" "" "" "" "MCPH1(NM_024596.4):c.2215-19A>G, MCPH1(NM_024596.5):c.2215-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621435A>G" "" "benign" "" "0000351320" "0" "10" "8" "6478960" "6478960" "subst" "0.24404" "02327" "MCPH1_000044" "g.6478960C>G" "" "" "" "MCPH1(NM_024596.4):c.2215-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621439C>G" "" "benign" "" "0000535203" "0" "30" "8" "6296514" "6296514" "subst" "0.00306666" "01943" "ANGPT2_000001" "g.6296514A>T" "" "" "" "MCPH1(NM_024596.4):c.477A>T (p.S159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6438993A>T" "" "likely benign" "" "0000535204" "0" "30" "8" "6299641" "6299641" "subst" "0.00365747" "01804" "MCPH1_000016" "g.6299641G>A" "" "" "" "MCPH1(NM_001172574.1):c.634G>A (p.(Ala212Thr)), MCPH1(NM_024596.4):c.634G>A (p.A212T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6442120G>A" "" "likely benign" "" "0000535205" "0" "30" "8" "6302026" "6302026" "subst" "0.000771893" "01943" "ANGPT2_000002" "g.6302026T>A" "" "" "" "MCPH1(NM_024596.4):c.783T>A (p.D261E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444505T>A" "" "likely benign" "" "0000535206" "0" "10" "8" "6302106" "6302106" "subst" "0.026837" "01943" "MCPH1_000055" "g.6302106C>A" "" "" "" "MCPH1(NM_024596.4):c.863C>A (p.P288H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444585C>A" "" "benign" "" "0000535208" "0" "30" "8" "6302151" "6302151" "subst" "0" "01804" "ANGPT2_000003" "g.6302151A>G" "" "" "" "MCPH1(NM_001172574.1):c.908A>G (p.(Gln303Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444630A>G" "" "likely benign" "" "0000535209" "0" "30" "8" "6302295" "6302295" "subst" "0.000138375" "01804" "ANGPT2_000004" "g.6302295G>T" "" "" "" "MCPH1(NM_001172574.1):c.1052G>T (p.(Ser351Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444774G>T" "" "likely benign" "" "0000535210" "0" "30" "8" "6302308" "6302308" "subst" "3.66345E-5" "01943" "ANGPT2_000005" "g.6302308G>T" "" "" "" "MCPH1(NM_001322042.1):c.1065G>T (p.K355N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444787G>T" "" "likely benign" "" "0000535211" "0" "30" "8" "6302431" "6302431" "subst" "7.72119E-5" "01943" "ANGPT2_000006" "g.6302431C>A" "" "" "" "MCPH1(NM_001322042.1):c.1188C>A (p.H396Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444910C>A" "" "likely benign" "" "0000535212" "0" "30" "8" "6302592" "6302592" "subst" "0.000316859" "01804" "ANGPT2_000007" "g.6302592A>C" "" "" "" "MCPH1(NM_001172574.1):c.1349A>C (p.(Lys450Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445071A>C" "" "likely benign" "" "0000535213" "0" "30" "8" "6302673" "6302673" "subst" "8.12612E-6" "01804" "ANGPT2_000008" "g.6302673C>T" "" "" "" "MCPH1(NM_001172574.1):c.1430C>T (p.(Thr477Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445152C>T" "" "likely benign" "" "0000535214" "0" "30" "8" "6302706" "6302706" "subst" "4.06296E-6" "01943" "ANGPT2_000009" "g.6302706G>A" "" "" "" "MCPH1(NM_024596.4):c.1463G>A (p.G488E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445185G>A" "" "likely benign" "" "0000535215" "0" "30" "8" "6302720" "6302720" "subst" "1.2189E-5" "01943" "ANGPT2_000010" "g.6302720C>T" "" "" "" "MCPH1(NM_024596.4):c.1477C>T (p.R493C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445199C>T" "" "likely benign" "" "0000535216" "0" "30" "8" "6302736" "6302736" "subst" "4.06286E-6" "01943" "ANGPT2_000011" "g.6302736G>C" "" "" "" "MCPH1(NM_001322042.1):c.1493G>C (p.C498S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445215G>C" "" "likely benign" "" "0000535217" "0" "30" "8" "6302832" "6302832" "subst" "0.000251785" "01943" "ANGPT2_000012" "g.6302832A>T" "" "" "" "MCPH1(NM_024596.4):c.1589A>T (p.E530V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445311A>T" "" "likely benign" "" "0000535218" "0" "30" "8" "6303022" "6303022" "subst" "3.29364E-5" "01943" "ANGPT2_000013" "g.6303022G>C" "" "" "" "MCPH1(NM_024596.4):c.1779G>C (p.E593D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445501G>C" "" "likely benign" "" "0000535220" "0" "30" "8" "6303028" "6303028" "subst" "0.000378278" "01943" "ANGPT2_000014" "g.6303028T>C" "" "" "" "MCPH1(NM_001322042.1):c.1785T>C (p.S595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445507T>C" "" "likely benign" "" "0000535221" "0" "50" "8" "6338248" "6338248" "subst" "8.12222E-6" "01804" "ANGPT2_000015" "g.6338248G>A" "" "" "" "MCPH1(NM_024596.3):c.1987G>A (p.(Val663Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6480727G>A" "" "VUS" "" "0000535222" "0" "30" "8" "6338284" "6338284" "subst" "4.06091E-6" "01804" "ANGPT2_000016" "g.6338284A>G" "" "" "" "MCPH1(NM_024596.3):c.2023A>G (p.(Ile675Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6480763A>G" "" "likely benign" "" "0000535223" "0" "90" "8" "6357381" "6357381" "subst" "0.00012184" "01943" "ANGPT2_000017" "g.6357381G>A" "" "" "" "MCPH1(NM_001322042.1):c.2145G>A (p.W715*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6499860G>A" "" "pathogenic" "" "0000535224" "0" "50" "8" "6357416" "6357416" "subst" "0.000982829" "01943" "ANGPT2_000018" "g.6357416C>T" "" "" "" "MCPH1(NM_024596.4):c.2180C>T (p.P727L), MCPH1(NM_024596.5):c.2180C>T (p.(Pro727Leu), p.P727L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6499895C>T" "" "VUS" "" "0000535228" "0" "10" "8" "6478956" "6478956" "subst" "0.446477" "01943" "MCPH1_000056" "g.6478956A>G" "" "" "" "MCPH1(NM_024596.4):c.2215-19A>G, MCPH1(NM_024596.5):c.2215-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621435A>G" "" "benign" "" "0000535229" "0" "10" "8" "6478956" "6478956" "subst" "0.446477" "02325" "MCPH1_000056" "g.6478956A>G" "" "" "" "MCPH1(NM_024596.4):c.2215-19A>G, MCPH1(NM_024596.5):c.2215-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621435A>G" "" "benign" "" "0000535230" "0" "90" "8" "6478981" "6478981" "subst" "4.88691E-5" "02327" "ANGPT2_000020" "g.6478981C>T" "" "" "" "MCPH1(NM_024596.4):c.2221C>T (p.R741*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621460C>T" "" "pathogenic" "" "0000535231" "0" "30" "8" "6478987" "6478987" "subst" "4.88305E-5" "01804" "ANGPT2_000021" "g.6478987G>A" "" "" "" "MCPH1(NM_024596.3):c.2227G>A (p.(Glu743Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621466G>A" "" "likely benign" "" "0000535232" "0" "50" "8" "6479054" "6479054" "subst" "0.000276209" "01943" "ANGPT2_000022" "g.6479054C>G" "" "" "" "MCPH1(NM_024596.4):c.2294C>G (p.S765W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621533C>G" "" "VUS" "" "0000535233" "0" "50" "8" "6479152" "6479152" "subst" "0" "01804" "ANGPT2_000023" "g.6479152G>T" "" "" "" "MCPH1(NM_024596.3):c.2392G>T (p.(Gly798Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621631G>T" "" "VUS" "" "0000535234" "0" "30" "8" "6479155" "6479155" "subst" "0.000219375" "02325" "ANGPT2_000024" "g.6479155C>T" "" "" "" "MCPH1(NM_024596.5):c.2395C>T (p.(Pro799Ser), p.P799S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621634C>T" "" "likely benign" "" "0000611693" "0" "30" "8" "6301939" "6301939" "subst" "0" "01943" "ANGPT2_000025" "g.6301939C>T" "" "" "" "MCPH1(NM_024596.4):c.696C>T (p.H232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444418C>T" "" "likely benign" "" "0000611694" "0" "30" "8" "6302304" "6302304" "subst" "0.000130228" "01943" "ANGPT2_000026" "g.6302304T>C" "" "" "" "MCPH1(NM_024596.4):c.1061T>C (p.V354A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444783T>C" "" "likely benign" "" "0000611695" "0" "30" "8" "6302479" "6302479" "subst" "0.000304643" "01943" "ANGPT2_000027" "g.6302479T>C" "" "" "" "MCPH1(NM_024596.4):c.1236T>C (p.Y412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444958T>C" "" "likely benign" "" "0000611696" "0" "30" "8" "6479191" "6479191" "subst" "0" "01943" "ANGPT2_000028" "g.6479191C>T" "" "" "" "MCPH1(NM_024596.4):c.2431C>T (p.L811=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621670C>T" "" "likely benign" "" "0000678421" "0" "50" "8" "6478982" "6478982" "subst" "3.66387E-5" "01943" "ANGPT2_000029" "g.6478982G>A" "" "" "" "MCPH1(NM_001322042.1):c.2222G>A (p.R741Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690314" "0" "50" "8" "6335137" "6335137" "subst" "8.12902E-6" "02325" "ANGPT2_000030" "g.6335137C>G" "" "" "" "MCPH1(NM_024596.5):c.1958C>G (p.T653R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722070" "0" "30" "8" "6289081" "6289081" "subst" "4.07216E-6" "01943" "ANGPT2_000031" "g.6289081C>T" "" "" "" "MCPH1(NM_001322042.1):c.295C>T (p.H99Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722071" "0" "90" "8" "6293674" "6293674" "dup" "0" "02329" "MCPH1_000003" "g.6293674dup" "" "" "" "MCPH1(NM_001322042.2):c.427dupA (p.T143Nfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803722" "0" "90" "8" "6299632" "6299633" "del" "0" "02329" "ANGPT2_000032" "g.6299632_6299633del" "" "" "" "MCPH1(NM_001322042.2):c.625_626delCT (p.L209Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803723" "0" "30" "8" "6303069" "6303069" "subst" "4.58543E-6" "01943" "MCPH1_000063" "g.6303069G>C" "" "" "" "MCPH1(NM_001322045.1):c.1724G>C (p.S575T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803724" "0" "30" "8" "6500549" "6500549" "subst" "0.000227565" "01943" "MCPH1_000064" "g.6500549A>C" "" "" "" "MCPH1(NM_024596.4):c.2487A>C (p.E829D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000843375" "3" "90" "8" "6385085" "6385085" "subst" "0" "04271" "ANGPT2_000033" "g.6385085T>C" "" "{PMID:Smeland 2021:34876502}" "" "NM_001147.2:c.557A>G" "" "Germline" "" "" "0" "" "" "g.6527564T>C" "" "pathogenic (recessive)" "" "0000843376" "3" "90" "8" "6385085" "6385085" "subst" "0" "04271" "ANGPT2_000033" "g.6385085T>C" "" "{PMID:Smeland 2021:34876502}" "" "NM_001147.2:c.557A>G" "" "Germline" "" "" "0" "" "" "g.6527564T>C" "" "pathogenic (recessive)" "" "0000843377" "3" "90" "8" "6385085" "6385085" "subst" "0" "04271" "ANGPT2_000033" "g.6385085T>C" "" "{PMID:Smeland 2021:34876502}" "" "NM_001147.2:c.557A>G" "" "Germline" "" "" "0" "" "" "g.6527564T>C" "" "pathogenic (recessive)" "" "0000843378" "3" "90" "8" "6385085" "6385085" "subst" "0" "04271" "ANGPT2_000033" "g.6385085T>C" "" "{PMID:Smeland 2021:34876502}" "" "NM_001147.2:c.557A>G" "" "Germline" "" "" "0" "" "" "g.6527564T>C" "" "pathogenic (recessive)" "" "0000843381" "1" "90" "8" "6385085" "6385085" "subst" "0" "00006" "ANGPT2_000033" "g.6385085T>C" "" "{PMID:Smeland 2021:34876502}" "" "" "" "Germline" "" "" "0" "" "" "g.6527564T>C" "" "pathogenic (recessive)" "" "0000843382" "2" "10" "8" "6377433" "6377433" "subst" "0.264392" "00006" "MCPH1_000039" "g.6377433C>T" "" "{PMID:Smeland 2021:34876502}" "" "NM_001147.2:c.882G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000843394" "0" "90" "8" "6357172" "6420784" "del" "0" "04271" "ANGPT2_000034" "g.(?_6357172)_(6420784_?)del" "" "{PMID:Leppanen 2020:32908006}" "" "deletion ANGPT2" "" "De novo" "" "" "0" "" "" "g.(?_6499651)_(6563263_?)del" "" "pathogenic (recessive)" "" "0000843395" "11" "90" "8" "6377419" "6377419" "subst" "0.000190916" "04271" "ANGPT2_000038" "g.6377419G>A" "" "{PMID:Leppanen 2020:32908006}" "" "NM_001147.2:c.896C>T" "" "Germline" "" "" "0" "" "" "g.6519898G>A" "" "pathogenic (recessive)" "" "0000843396" "11" "90" "8" "6377403" "6377403" "subst" "0.000243704" "04271" "ANGPT2_000037" "g.6377403A>T" "" "{PMID:Leppanen 2020:32908006}" "" "NM_001147.2:c.912T>A" "" "Germline" "" "" "0" "" "" "g.6519882A>T" "" "pathogenic (recessive)" "" "0000843397" "11" "90" "8" "6366479" "6366479" "subst" "0" "04271" "ANGPT2_000036" "g.6366479C>G" "" "{PMID:Leppanen 2020:32908006}" "" "NM_001147.2:c.1304G>C" "" "Germline" "" "" "0" "" "" "g.6508958C>G" "" "pathogenic (recessive)" "" "0000843398" "21" "90" "8" "6360638" "6360638" "subst" "0" "04271" "ANGPT2_000035" "g.6360638C>T" "" "{PMID:Leppanen 2020:32908006}" "" "NM_001147.2:c.1475G>A" "" "Germline" "" "" "0" "" "" "g.6503117C>T" "" "pathogenic (recessive)" "" "0000851984" "0" "50" "8" "6266835" "6266835" "subst" "2.03059E-5" "01943" "ANGPT2_000039" "g.6266835G>A" "" "" "" "MCPH1(NM_001322042.1):c.58G>A (p.G20R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888430" "0" "50" "8" "6357416" "6357416" "subst" "0.000982829" "02325" "ANGPT2_000018" "g.6357416C>T" "" "" "" "MCPH1(NM_024596.4):c.2180C>T (p.P727L), MCPH1(NM_024596.5):c.2180C>T (p.(Pro727Leu), p.P727L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888431" "0" "50" "8" "6357438" "6357438" "subst" "0.000560456" "02325" "ANGPT2_000040" "g.6357438C>A" "" "" "" "MCPH1(NM_024596.5):c.2202C>A (p.F734L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888432" "0" "50" "8" "6360653" "6360653" "subst" "0" "02330" "ANGPT2_000041" "g.6360653G>T" "" "" "" "ANGPT2(NM_001147.3):c.1460C>A (p.T487K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888433" "0" "10" "8" "6371303" "6371303" "subst" "0.0508134" "02330" "ANGPT2_000042" "g.6371303A>G" "" "" "" "ANGPT2(NM_001147.3):c.1095T>C (p.N365=), MCPH1(NM_001322042.2):c.2214+13853A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888434" "0" "10" "8" "6378691" "6378691" "subst" "0.0539869" "02330" "ANGPT2_000043" "g.6378691A>G" "" "" "" "ANGPT2(NM_001147.3):c.799+8T>C, MCPH1(NM_001322042.2):c.2214+21241A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000909285" "3" "90" "8" "6385085" "6385085" "subst" "0" "00006" "ANGPT2_000033" "g.6385085T>C" "" "{PMID:Smeland 2023:34876502}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6527564T>C" "" "pathogenic (recessive)" "" "0000909286" "3" "90" "8" "6385085" "6385085" "subst" "0" "00006" "ANGPT2_000033" "g.6385085T>C" "" "{PMID:Smeland 2023:34876502}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6527564T>C" "" "pathogenic (recessive)" "" "0000909287" "3" "90" "8" "6385085" "6385085" "subst" "0" "00006" "ANGPT2_000033" "g.6385085T>C" "" "{PMID:Smeland 2023:34876502}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6527564T>C" "" "pathogenic (recessive)" "" "0000909288" "3" "90" "8" "6385085" "6385085" "subst" "0" "00006" "ANGPT2_000033" "g.6385085T>C" "" "{PMID:Smeland 2023:34876502}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6527564T>C" "" "pathogenic (recessive)" "" "0000909289" "3" "30" "8" "6377433" "6377433" "subst" "0.264392" "00006" "MCPH1_000039" "g.6377433C>T" "" "{PMID:Smeland 2023:34876502}" "" "" "" "Germline" "" "" "0" "" "" "g.6519912C>T" "" "likely benign" "" "0000909290" "3" "30" "8" "6377433" "6377433" "subst" "0.264392" "00006" "MCPH1_000039" "g.6377433C>T" "" "{PMID:Smeland 2023:34876502}" "" "" "" "Germline" "" "" "0" "" "" "g.6519912C>T" "" "likely benign" "" "0000909291" "3" "30" "8" "6377433" "6377433" "subst" "0.264392" "00006" "MCPH1_000039" "g.6377433C>T" "" "{PMID:Smeland 2023:34876502}" "" "" "" "Germline" "" "" "0" "" "" "g.6519912C>T" "" "likely benign" "" "0000909292" "3" "30" "8" "6377433" "6377433" "subst" "0.264392" "00006" "MCPH1_000039" "g.6377433C>T" "" "{PMID:Smeland 2023:34876502}" "" "" "" "Germline" "" "" "0" "" "" "g.6519912C>T" "" "likely benign" "" "0000912979" "0" "10" "8" "6371240" "6371240" "subst" "0.00141701" "02330" "ANGPT2_000044" "g.6371240C>G" "" "" "" "ANGPT2(NM_001147.3):c.1158G>C (p.L386F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912980" "0" "50" "8" "6478981" "6478981" "subst" "4.88691E-5" "02326" "ANGPT2_000020" "g.6478981C>T" "" "" "" "MCPH1(NM_024596.4):c.2221C>T (p.R741*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978261" "0" "30" "8" "6372233" "6372233" "subst" "0.00138073" "01804" "ANGPT2_000045" "g.6372233C>T" "" "" "" "ANGPT2(NM_001118887.2):c.994G>A (p.(Val332Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978262" "0" "30" "8" "6479155" "6479155" "subst" "0.000219375" "01804" "ANGPT2_000024" "g.6479155C>T" "" "" "" "MCPH1(NM_024596.5):c.2395C>T (p.(Pro799Ser), p.P799S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997288" "0" "30" "8" "6264195" "6264195" "subst" "0" "01804" "ANGPT2_000046" "g.6264195G>T" "" "" "" "MCPH1(NM_024596.3):c.7G>T (p.(Ala3Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997289" "0" "30" "8" "6302633" "6302633" "subst" "0.00031284" "01804" "ANGPT2_000047" "g.6302633G>A" "" "" "" "MCPH1(NM_024596.3):c.1390G>A (p.(Val464Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997290" "0" "30" "8" "6377403" "6377403" "subst" "0.000243704" "01804" "ANGPT2_000037" "g.6377403A>T" "" "" "" "MCPH1(NM_024596.3):c.2214+19953A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997291" "0" "30" "8" "6378728" "6378728" "subst" "0.000312871" "02330" "ANGPT2_000048" "g.6378728T>A" "" "" "" "ANGPT2(NM_001147.3):c.770A>T (p.N257I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997292" "0" "50" "8" "6420296" "6420296" "subst" "1.62427E-5" "02330" "ANGPT2_000049" "g.6420296G>A" "" "" "" "ANGPT2(NM_001147.3):c.160C>T (p.R54C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997293" "0" "50" "8" "6420445" "6420445" "subst" "4.12698E-6" "01804" "ANGPT2_000050" "g.6420445A>G" "" "" "" "ANGPT2(NM_001147.2):c.11T>C (p.(Ile4Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997294" "0" "90" "8" "6479122" "6479122" "subst" "2.03077E-5" "01804" "ANGPT2_000051" "g.6479122C>T" "" "" "" "MCPH1(NM_024596.3):c.2362C>T (p.(Gln788*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037020" "0" "50" "8" "6338338" "6338338" "subst" "0.000134021" "01804" "ANGPT2_000052" "g.6338338C>T" "" "" "" "MCPH1(NM_024596.5):c.2077C>T (p.(Arg693Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037021" "0" "50" "8" "6338339" "6338339" "subst" "3.65533E-5" "01804" "ANGPT2_000053" "g.6338339G>A" "" "" "" "MCPH1(NM_024596.5):c.2078G>A (p.(Arg693His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037022" "0" "50" "8" "6338354" "6338354" "subst" "0" "01804" "ANGPT2_000054" "g.6338354T>G" "" "" "" "MCPH1(NM_024596.5):c.2093T>G (p.(Leu698Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037023" "0" "50" "8" "6338387" "6338387" "subst" "0" "01804" "ANGPT2_000055" "g.6338387C>T" "" "" "" "MCPH1(NM_024596.5):c.2126C>T (p.(Ser709Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037024" "0" "50" "8" "6357416" "6357416" "subst" "0.000982829" "01804" "ANGPT2_000018" "g.6357416C>T" "" "" "" "MCPH1(NM_024596.4):c.2180C>T (p.P727L), MCPH1(NM_024596.5):c.2180C>T (p.(Pro727Leu), p.P727L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037026" "0" "30" "8" "6482463" "6482463" "subst" "0" "01804" "ANGPT2_000056" "g.6482463C>G" "" "" "" "MCPH1(NM_001322042.2):c.2499C>G (p.(Ile833Met))" "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 ANGPT2 ## Count = 161 "{{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}}" "0000246697" "00025700" "10" "1104" "0" "1104" "0" "c.1104T>C" "r.(?)" "p.(Tyr368=)" "" "0000246732" "00025700" "10" "289" "-19" "289" "-19" "c.289-19T>C" "r.(=)" "p.(=)" "" "0000247980" "00025700" "10" "59692" "0" "59692" "0" "c.*58204T>C" "r.(=)" "p.(=)" "" "0000253241" "00025700" "10" "59692" "0" "59692" "0" "c.*58204T>C" "r.(=)" "p.(=)" "" "0000253728" "00025700" "10" "59878" "0" "59878" "0" "c.*58390T>C" "r.(=)" "p.(=)" "" "0000253824" "00025700" "10" "95325" "0" "95325" "0" "c.*93837T>C" "r.(=)" "p.(=)" "" "0000254375" "00025700" "30" "59641" "0" "59641" "0" "c.*58153T>A" "r.(=)" "p.(=)" "" "0000254523" "00025700" "30" "60077" "0" "60077" "0" "c.*58589T>C" "r.(=)" "p.(=)" "" "0000255032" "00025700" "30" "-58706" "0" "-58706" "0" "c.-58706T>C" "r.(?)" "p.(=)" "" "0000255893" "00025700" "50" "89757" "0" "89757" "0" "c.*88269T>C" "r.(=)" "p.(=)" "" "0000256159" "00025700" "50" "59998" "0" "59998" "0" "c.*58510T>C" "r.(=)" "p.(=)" "" "0000257701" "00025700" "10" "408" "0" "408" "0" "c.408G>C" "r.(?)" "p.(Ala136=)" "" "0000262447" "00025700" "10" "408" "0" "408" "0" "c.408G>C" "r.(?)" "p.(Ala136=)" "" "0000279629" "00025700" "10" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Thr293=)" "" "0000279630" "00025700" "10" "735" "0" "735" "0" "c.735G>A" "r.(?)" "p.(Gln245=)" "" "0000279631" "00025700" "10" "714" "0" "714" "0" "c.714G>T" "r.(?)" "p.(Thr238=)" "" "0000279632" "00025700" "10" "408" "0" "408" "0" "c.408G>T" "r.(?)" "p.(Ala136=)" "" "0000282416" "00025700" "10" "-58531" "0" "-58531" "0" "c.-58531G>A" "r.(?)" "p.(=)" "" "0000282417" "00025700" "10" "-58587" "0" "-58587" "0" "c.-58587G>A" "r.(?)" "p.(=)" "" "0000282418" "00025700" "10" "89711" "0" "89711" "0" "c.*88223C>A" "r.(=)" "p.(=)" "" "0000282419" "00025700" "10" "-58723" "0" "-58723" "0" "c.-58723G>T" "r.(?)" "p.(=)" "" "0000282420" "00025700" "10" "-80089" "0" "-80089" "0" "c.-80089G>A" "r.(?)" "p.(=)" "" "0000282421" "00025700" "10" "65560" "0" "65560" "0" "c.*64072C>A" "r.(=)" "p.(=)" "" "0000282422" "00025700" "10" "59956" "0" "59956" "0" "c.*58468C>A" "r.(=)" "p.(=)" "" "0000282423" "00025700" "10" "59927" "0" "59927" "0" "c.*58439C>G" "r.(=)" "p.(=)" "" "0000291615" "00025700" "30" "97931" "0" "97931" "0" "c.*96443C>G" "r.(=)" "p.(=)" "" "0000291616" "00025700" "30" "59719" "0" "59719" "0" "c.*58231G>C" "r.(=)" "p.(=)" "" "0000291617" "00025700" "50" "89811" "0" "89811" "0" "c.*88323A>G" "r.(=)" "p.(=)" "" "0000291618" "00025700" "30" "59516" "0" "59516" "0" "c.*58028C>T" "r.(=)" "p.(=)" "" "0000291619" "00025700" "30" "59498" "0" "59498" "0" "c.*58010C>T" "r.(=)" "p.(=)" "" "0000291620" "00025700" "10" "59439" "0" "59439" "0" "c.*57951G>A" "r.(=)" "p.(=)" "" "0000291621" "00025700" "30" "59316" "0" "59316" "0" "c.*57828G>A" "r.(=)" "p.(=)" "" "0000291622" "00025700" "50" "59188" "0" "59188" "0" "c.*57700C>A" "r.(=)" "p.(=)" "" "0000291623" "00025700" "10" "59148" "0" "59148" "0" "c.*57660G>A" "r.(=)" "p.(=)" "" "0000291624" "00025700" "30" "59139" "0" "59139" "0" "c.*57651G>A" "r.(=)" "p.(=)" "" "0000291625" "00025700" "30" "59086" "0" "59086" "0" "c.*57598G>A" "r.(=)" "p.(=)" "" "0000291626" "00025700" "10" "59085" "0" "59085" "0" "c.*57597C>T" "r.(=)" "p.(=)" "" "0000291627" "00025700" "10" "23804" "0" "23804" "0" "c.*22316G>T" "r.(=)" "p.(=)" "" "0000291628" "00025700" "50" "4664" "0" "4664" "0" "c.*3176G>C" "r.(=)" "p.(=)" "" "0000291629" "00025700" "10" "-58505" "0" "-58505" "0" "c.-58505G>C" "r.(?)" "p.(=)" "" "0000291630" "00025700" "10" "-58531" "0" "-58531" "0" "c.-58531G>A" "r.(?)" "p.(=)" "" "0000291631" "00025700" "10" "-58587" "0" "-58587" "0" "c.-58587G>A" "r.(?)" "p.(=)" "" "0000291632" "00025700" "10" "89711" "0" "89711" "0" "c.*88223C>A" "r.(=)" "p.(=)" "" "0000291633" "00025700" "10" "95336" "0" "95336" "0" "c.*93848C>T" "r.(=)" "p.(=)" "" "0000291634" "00025700" "10" "-58705" "0" "-58705" "0" "c.-58705G>A" "r.(?)" "p.(=)" "" "0000291635" "00025700" "10" "-58723" "0" "-58723" "0" "c.-58723G>T" "r.(?)" "p.(=)" "" "0000291636" "00025700" "70" "-58750" "0" "-58750" "0" "c.-58750C>T" "r.(?)" "p.(=)" "" "0000291637" "00025700" "10" "-80046" "0" "-80046" "0" "c.-80046G>A" "r.(?)" "p.(=)" "" "0000291638" "00025700" "10" "-80089" "0" "-80089" "0" "c.-80089G>A" "r.(?)" 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"" "0000843381" "00025700" "90" "557" "0" "557" "0" "c.557A>G" "r.0" "p.0" "" "0000843382" "00025700" "10" "879" "0" "879" "0" "c.879G>A" "r.897g>a" "p.Thr294=" "" "0000843394" "00025700" "90" "" "0" "" "0" "c.-329_*3450{0}" "r.0" "p.0" "" "0000843395" "00025700" "90" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Thr298Met)" "" "0000843396" "00025700" "90" "909" "0" "909" "0" "c.909T>A" "r.(?)" "p.(Asn303Lys)" "" "0000843397" "00025700" "90" "1301" "0" "1301" "0" "c.1301G>C" "r.(?)" "p.(Cys434Ser)" "" "0000843398" "00025700" "90" "1472" "0" "1472" "0" "c.1472G>A" "r.(?)" "p.(Arg491Gln)" "" "0000851984" "00025700" "50" "95275" "0" "95275" "0" "c.*93787C>T" "r.(=)" "p.(=)" "" "0000888430" "00025700" "50" "4694" "0" "4694" "0" "c.*3206G>A" "r.(=)" "p.(=)" "" "0000888431" "00025700" "50" "4672" "0" "4672" "0" "c.*3184G>T" "r.(=)" "p.(=)" "" "0000888432" "00025700" "50" "1457" "0" "1457" "0" "c.1457C>A" "r.(?)" "p.(Thr486Lys)" "" "0000888433" "00025700" "10" "1092" "0" "1092" "0" "c.1092T>C" "r.(?)" "p.(Asn364=)" "" "0000888434" "00025700" "10" "799" "8" "799" "8" "c.799+8T>C" "r.(=)" "p.(=)" "" "0000909285" "00025700" "90" "557" "0" "557" "0" "c.557A>G" "r.[0,557_566del]" "p.[0,Asp186Valdelfs*3]" "" "0000909286" "00025700" "90" "557" "0" "557" "0" "c.557A>G" "r.[0,557_566del]" "p.[0,Asp186Valdelfs*3]" "" "0000909287" "00025700" "90" "557" "0" "557" "0" "c.557A>G" "r.[0,557_566del]" "p.[0,Asp186Valdelfs*3]" "" "0000909288" "00025700" "90" "557" "0" "557" "0" "c.557A>G" "r.[0,557_566del]" "p.[0,Asp186Valdelfs*3]" "" "0000909289" "00025700" "30" "879" "0" "879" "0" "c.879G>A" "-" "-" "" "0000909290" "00025700" "30" "879" "0" "879" "0" "c.879G>A" "-" "-" "" "0000909291" "00025700" "30" "879" "0" "879" "0" "c.879G>A" "-" "-" "" "0000909292" "00025700" "30" "879" "0" "879" "0" "c.879G>A" "-" "-" "" "0000912979" "00025700" "10" "1155" "0" "1155" "0" "c.1155G>C" "r.(?)" "p.(Leu385Phe)" "" "0000912980" "00025700" "50" "-58526" "0" "-58526" "0" "c.-58526G>A" "r.(?)" "p.(=)" "" "0000978261" "00025700" "30" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Val332Ile)" "" "0000978262" "00025700" "30" "-58700" "0" "-58700" "0" "c.-58700G>A" "r.(?)" "p.(=)" "" "0000997288" "00025700" "30" "97915" "0" "97915" "0" "c.*96427C>A" "r.(=)" "p.(=)" "" "0000997289" "00025700" "30" "59477" "0" "59477" "0" "c.*57989C>T" "r.(=)" "p.(=)" "" "0000997290" "00025700" "30" "909" "0" "909" "0" "c.909T>A" "r.(?)" "p.(Asn303Lys)" "" "0000997291" "00025700" "30" "770" "0" "770" "0" "c.770A>T" "r.(?)" "p.(Asn257Ile)" "" "0000997292" "00025700" "50" "160" "0" "160" "0" "c.160C>T" "r.(?)" "p.(Arg54Cys)" "" "0000997293" "00025700" "50" "11" "0" "11" "0" "c.11T>C" "r.(?)" "p.(Ile4Thr)" "" "0000997294" "00025700" "90" "-58667" "0" "-58667" "0" "c.-58667G>A" "r.(?)" 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"p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000406954" "0000843375" "0000406955" "0000843376" "0000406956" "0000843377" "0000406957" "0000843378" "0000406959" "0000843381" "0000406959" "0000843382" "0000406965" "0000843394" "0000406966" "0000843395" "0000406967" "0000843396" "0000406968" "0000843397" "0000406969" "0000843398" "0000429687" "0000909285" "0000429687" "0000909289" "0000429688" "0000909286" "0000429688" "0000909290" "0000429689" "0000909287" "0000429689" "0000909291" "0000429690" "0000909288" "0000429690" "0000909292"