### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AMPD2) # 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}}" "AMPD2" "adenosine monophosphate deaminase 2" "1" "p13.3" "unknown" "NC_000001.10" "UD_134712113433" "" "https://www.LOVD.nl/AMPD2" "" "1" "469" "271" "102771" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/AMPD2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-01-06 15:24:57" "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}}" "00002443" "AMPD2" "transcript variant 4" "001" "NM_001257360.1" "" "NP_001244289.1" "" "" "" "-566" "3543" "2640" "110162435" "110174677" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04049" "SPG63" "paraplegia, spastic, type 63, autosomal recessive (SPG-63)" "AR" "615686" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04090" "PCH9" "hypoplasia, pontocerebellar, type 9 (PCH-9)" "AR" "615809" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05331" "PCH" "hypoplasia, pontocerebellar (PCH)" "AD;AR" "" "cerebellum" "" "non-degenerative form of pontocerebellar hypoplasia" "00001" "2017-09-25 12:19:57" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AMPD2" "04049" "AMPD2" "04090" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00095149" "" "" "" "2" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "6-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents" "F;M" "yes" "" "" "0" "" "" "" "" "00133645" "" "" "" "1" "" "01428" "" "" "M" "yes" "Turkey" "00y13m" "0" "" "" "" "" "00133661" "" "" "" "1" "" "01428" "" "" "M" "yes" "Sri Lanka" "" "0" "" "" "" "" "00133662" "" "" "" "2" "" "01428" "" "two-generation family with 2 affecteds (sister and brother)" "F" "no" "" "" "0" "" "" "" "" "00133663" "" "" "" "2" "" "01428" "" "two-generation family with two affected brothers, healthy non-consanguineous parents" "M" "no" "" "" "0" "" "" "" "" "00133664" "" "" "" "1" "" "01428" "" "" "M" "yes" "India" "" "0" "" "" "" "" "00133665" "" "" "" "1" "" "01428" "" "" "" "" "" "" "0" "" "" "" "" "00164821" "" "" "" "1" "" "01796" "{PMID:Marsh 2017:28168832}" "" "M" "yes" "" "02y" "0" "" "" "Middle Eastern" "II-1" "00164822" "" "" "" "1" "" "01796" "{PMID:Marsh 2015:27066553}" "Five affected offspring (2M:3F) from a consanguineous union" "" "yes" "" "" "0" "" "" "Middle Eastern" "" "00164823" "" "" "" "1" "" "01796" "{PMID:Vanderver 2016:27159321}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "LD_0673.0A" "00164824" "" "" "" "1" "" "01796" "{PMID:Severino 2017:28972112}" "" "F" "no" "" "03y" "0" "" "" "" "" "00164825" "" "" "" "1" "" "01796" "{PMID:Accogli 2017:28815207}" "The probands are 2 girls (IV:1, aged 9 years and IV:3 aged 8 years) and 1\r\nboy (IV:2, aged 7 years) born to first-cousin parents from the Middle East" "" "yes" "" "" "0" "" "" "Middle Eastern" "" "00164826" "" "" "" "1" "" "01796" "{PMID:Akizu 2013:23911318}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "PCH/CCH‐1298‐4‐2" "00164827" "" "" "" "1" "" "01796" "{PMID:Akizu 2013:23911318}" "" "F" "yes" "Turkey" "" "0" "" "" "" "PCH‐1022‐3‐2" "00164828" "" "" "" "2" "" "01796" "{PMID:Akizu 2013:23911318}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "PCH‐1631‐3‐1 and PCH‐1631‐3‐2" "00164829" "" "" "" "2" "" "01796" "{PMID:Akizu 2013:23911318}" "" "F" "yes" "Egypt" "" "0" "" "" "" "PCH‐1236‐3‐2 and PCH‐1236‐3‐3" "00164830" "" "" "" "1" "" "01796" "{PMID:Akizu 2013:23911318}" "" "M" "yes" "Egypt" "" "0" "" "" "" "PCH‐1391‐5‐4" "00307146" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00361577" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "13DG0104" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00095149" "00198" "00133645" "04090" "00133661" "04090" "00133662" "04090" "00133663" "04090" "00133664" "04090" "00133665" "04090" "00164821" "04090" "00164822" "04090" "00164823" "05331" "00164824" "04090" "00164825" "04090" "00164826" "04090" "00164827" "04090" "00164828" "04090" "00164829" "04090" "00164830" "04090" "00307146" "00198" "00361577" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04049, 04090, 05331 ## Count = 20 "{{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}}" "0000073546" "00198" "00095149" "00006" "Familial, autosomal recessive" "" "see paper; …, spastic paraplegia" "" "" "" "" "" "" "" "" "" "" "" "0000106395" "04090" "00133645" "01428" "Familial, autosomal recessive" "" "Sleep disturbance (HP:0002360), postprandial hyperglycemia (HP:0011998), gastroesophageal reflux (HP:0002020)" "" "" "" "" "" "" "" "" "" "" "" "0000106411" "04090" "00133662" "01428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106412" "04090" "00133663" "01428" "Familial, autosomal recessive" "" "Postnatal microcephaly (HP:0005484), cerebellar hypoplasia (HP:0001321), hypoplasia of the pons (HP:0012110), abnormality of brainstem morphology (HP:0002363), motor delay (HP:0001270), muscular hypotonia of the trunk (HP:0008936),intellectual disability (HP:0001249), opisthotonus (HP:0002179), \r\nAplasia/Hypoplasia of the corpus callosum (HP:0007370), visual impairment (HP:0000505)" "" "" "" "" "" "" "" "" "" "" "" "0000106413" "04090" "00133664" "01428" "Familial, autosomal recessive" "" "Microcephaly (HP:0000252), cerebellar hypoplasia (HP:0001321), hypoplasia of the pons (HP:0012110), hypoplasia of the corpus callosum (HP:0007370), hypoplasia of the brainstem (HP:0007362), motor delay (HP:0001270), intellectual disability, profound (HP:0002187), spasticity (HP:0001257), tonic seizures (HP:0011167)" "" "" "" "" "" "" "" "" "" "" "" "0000106414" "04090" "00133665" "01428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000115942" "04090" "00133645" "01428" "Familial, autosomal recessive" "" "Postnatal microcephaly (HP:0005484), cerebellar hypoplasia (HP:0001321), hypoplasia of the pons (HP:0012110), partial agenesis of the corpus callosum (HP:0001338), abnormality of brainstem morphology (HP:0002363), motor delay (HP:0001270), muscular hypotonia of the trunk (HP:0008936), apnea (HP:0002104), intellectual disability, profound (HP:0002187), spasticity (HP:0001257)" "" "" "" "" "" "" "" "" "" "" "" "0000115943" "04090" "00133661" "01428" "Familial, autosomal recessive" "" "Microcephaly (HP:0000252), cerebellar hypoplasia (HP:0001321), hypoplasia of the pons (HP:0012110), \r\naplasia/Hypoplasia of the corpus callosum (HP:0007370), abnormality of brainstem morphology (HP:0002363), motor delay (HP:0001270), muscular hypotonia of the trunk (HP:0008936), intellectual disability (HP:0001249), spasticity (HP:0001257)" "" "" "" "" "" "" "" "" "" "" "" "0000129836" "04090" "00164821" "01796" "Familial, autosomal recessive" "" "Cognitive milestones: Severely delayed\r\nOFC: 43 (-5.4 SD)\r\nCerebellum: Hypoplasia\r\nPons: Hypoplasia\r\nBrainstem: “Figure 8”\r\nCorpus callosum: Complete ACC" "" "" "" "" "" "" "" "" "PCH9" "" "" "0000129837" "04090" "00164822" "01796" "Familial, autosomal recessive" "" "Cognitive milestones: Severely delayed\r\nOFC: -3.6 (-4.6 SD)\r\nCerebellum: Hypoplasia\r\nPons: Mild hypoplasia\r\nBrainstem: “Figure 8” + Hypoplasia\r\nCorpus callosum: Complete ACC" "" "" "" "" "" "" "" "" "PCH9" "" "" "0000129838" "05331" "00164823" "01796" "Familial, autosomal recessive" "" "Cognitive milestones: Absent\r\nOFC: Microcephaly\r\nCerebellum: Hypoplasia\r\nPons: Hypoplasia\r\nBrainstem: Hypoplasia\r\nCorpus callosum: Abnormal" "" "" "" "" "" "" "" "" "PCH9" "Spastic paraplegia 63" "" "0000129839" "04090" "00164824" "01796" "Familial" "" "Cognitive milestones: Delayed\r\nOFC: Microcephaly\r\nCerebellum: Hypoplasia\r\nPons: Hypoplasia\r\nBrainstem: “Figure 8”\r\nCorpus callosum: Complete ACC" "" "" "" "" "" "" "" "" "PCH9" "" "" "0000129840" "04090" "00164825" "01796" "Familial, autosomal recessive" "" "Cognitive milestones: Delayed\r\nOFC: Microcephaly\r\nCerebellum: Hypoplasia\r\nPons: Hypoplasia\r\nBrainstem: “Figure 8”\r\nCorpus callosum: Hypoplasia" "" "" "" "" "" "" "" "" "PCH9" "" "" "0000129841" "04090" "00164826" "01796" "Familial, autosomal recessive" "" "Cognitive milestones: Delayed\r\nOFC: ‐5 (‐6 SD)\r\nCerebellum: Hypoplasia\r\nPons: Hypoplasia\r\nBrainstem: “Figure 8”\r\nCorpus callosum: Severe hypoplasia" "" "" "" "" "" "" "" "" "PCH9" "" "" "0000129842" "04090" "00164827" "01796" "Familial, autosomal recessive" "" "Cognitive milestones: Absent\r\nOFC: -7 (‐8 SD)\r\nCerebellum: Hypoplasia\r\nPons: Hypoplasia\r\nBrainstem: “Figure 8” \r\nCorpus callosum: Severe hypoplasia" "" "" "" "" "" "" "" "" "PCH9" "" "" "0000129843" "04090" "00164828" "01796" "Familial, autosomal recessive" "" "Cognitive milestones: Absent\r\nOFC: ‐6.5 (‐7.5 SD)\r\nCerebellum: Hypoplasia\r\nPons: Hypoplasia\r\nBrainstem: “Figure 8”\r\nCorpus callosum: Severe hypoplasia" "" "" "" "" "" "" "" "" "PCH9" "" "" "0000129844" "04090" "00164829" "01796" "Familial, autosomal recessive" "" "Cognitive milestones: Absent\r\nOFC: -6.5 (‐7.5 SD)\r\nCerebellum: Hypoplasia\r\nPons: Hypoplasia\r\nBrainstem: “Figure 8”\r\nCorpus callosum: Severe hypoplasia" "" "" "" "" "" "" "" "" "PCH9" "" "" "0000129845" "04090" "00164830" "01796" "Familial, autosomal recessive" "" "Cognitive milestones: Absent\r\nOFC: ‐5\r\nCerebellum: Hypoplasia\r\nPons: Hypoplasia\r\nBrainstem: “Figure 8”\r\nCorpus callosum: Severe hypoplasia" "" "" "" "" "" "" "" "" "PCH9" "" "" "0000232951" "00198" "00307146" "01164" "Unknown" "" "Leukodystrophy (HP:0002415); CNS hypomyelination (HP:0003429)" "" "" "" "" "" "" "" "" "" "" "" "0000256982" "00139" "00361577" "00006" "Familial, autosomal recessive" "12y" "not syndromic; global developmental delay, seizures, pontocerebellar hypoplasia" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000095547" "00095149" "1" "00006" "00006" "2017-01-06 15:46:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000134482" "00133645" "1" "01428" "01428" "2017-11-15 21:49:06" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000134499" "00133661" "1" "01428" "01428" "2017-11-16 14:15:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000134500" "00133662" "1" "01428" "01428" "2017-11-16 14:21:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000134501" "00133663" "1" "01428" "01428" "2017-11-16 15:03:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000134502" "00133664" "1" "01428" "01428" "2017-11-16 19:45:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000134503" "00133665" "1" "01428" "01428" "2017-11-16 19:53:16" "" "" "SEQ" "DNA" "blood" "" "0000165687" "00164821" "1" "01796" "01796" "2018-06-17 23:22:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000165688" "00164822" "1" "01796" "01796" "2018-06-17 23:32:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000165689" "00164823" "1" "01796" "01796" "2018-06-17 23:43:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000165690" "00164824" "1" "01796" "01796" "2018-06-17 23:54:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000165691" "00164825" "1" "01796" "01796" "2018-06-18 00:07:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000165692" "00164826" "1" "01796" "01796" "2018-06-18 00:15:13" "" "" "SEQ-NG-I" "DNA" "" "" "0000165693" "00164827" "1" "01796" "01796" "2018-06-18 00:36:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000165694" "00164828" "1" "01796" "01796" "2018-06-18 00:43:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000165695" "00164829" "1" "01796" "01796" "2018-06-18 00:48:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000165696" "00164830" "1" "01796" "01796" "2018-06-18 00:58:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000308288" "00307146" "1" "01164" "01164" "2020-08-05 09:10:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000362805" "00361577" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000095547" "AMPD2" "0000362805" "AMPD2" ## 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 = 48 "{{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}}" "0000154117" "3" "90" "1" "110167990" "110167990" "del" "0" "00006" "AMPD2_000001" "g.110167990del" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}, {OMIM102771:0001}" "" "110167989CT>C" "" "Germline" "yes" "" "0" "" "" "g.109625368del" "" "pathogenic" "" "0000224484" "3" "70" "1" "110170886" "110170898" "dup" "0" "01428" "AMPD2_000002" "g.110170886_110170898dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.109628264_109628276dup" "" "likely pathogenic" "" "0000224501" "3" "70" "1" "110171343" "110171343" "subst" "0" "01428" "AMPD2_000003" "g.110171343G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.109628721G>A" "" "likely pathogenic" "" "0000224502" "21" "50" "1" "110170416" "110170416" "subst" "4.06266E-6" "01428" "AMPD2_000004" "g.110170416G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.109627794G>C" "" "VUS" "" "0000224503" "11" "50" "1" "110170515" "110170515" "subst" "0" "01428" "AMPD2_000005" "g.110170515A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.109627893A>G" "" "VUS" "" "0000224504" "21" "70" "1" "110169038" "110169038" "subst" "1.67792E-5" "01428" "AMPD2_000006" "g.110169038G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.109626416G>T" "" "likely pathogenic" "" "0000224505" "11" "70" "1" "110173662" "110173662" "subst" "4.06573E-6" "01428" "AMPD2_000007" "g.110173662G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.109631040G>A" "" "likely pathogenic" "" "0000224506" "3" "50" "1" "110170415" "110170415" "subst" "1.21897E-5" "01428" "AMPD2_000008" "g.110170415C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.109627793C>T" "" "VUS" "" "0000224507" "3" "50" "1" "110172521" "110172521" "subst" "8.23011E-6" "01428" "AMPD2_000009" "g.110172521G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.109629899G>A" "" "VUS" "" "0000245489" "0" "10" "1" "110169957" "110169957" "subst" "0.744818" "02330" "AMPD2_000011" "g.110169957A>G" "" "" "" "AMPD2(NM_001257360.1):c.1022+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109627335A>G" "" "benign" "" "0000257690" "0" "10" "1" "110173775" "110173775" "subst" "0.140464" "02330" "AMPD2_000015" "g.110173775G>T" "" "" "" "AMPD2(NM_001257360.1):c.*1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109631153G>T" "" "benign" "" "0000257691" "0" "10" "1" "110170728" "110170728" "subst" "0.0199813" "02330" "AMPD2_000012" "g.110170728G>A" "" "" "" "AMPD2(NM_001257360.1):c.1266G>A (p.S422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109628106G>A" "" "benign" "" "0000257692" "0" "10" "1" "110170896" "110170896" "subst" "0.735784" "02330" "AMPD2_000013" "g.110170896T>C" "" "" "" "AMPD2(NM_001257360.1):c.1434T>C (p.H478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109628274T>C" "" "benign" "" "0000257693" "0" "30" "1" "110171803" "110171803" "subst" "1.21874E-5" "02330" "AMPD2_000014" "g.110171803C>T" "" "" "" "AMPD2(NM_001257360.1):c.1806C>T (p.F602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109629181C>T" "" "likely benign" "" "0000257694" "0" "70" "1" "110168794" "110168794" "del" "0" "02330" "AMPD2_000010" "g.110168794del" "" "" "" "AMPD2(NM_001257360.1):c.528delC (p.D176Efs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109626172del" "" "likely pathogenic" "" "0000343246" "0" "90" "1" "110172109" "110172109" "subst" "2.03649E-5" "02327" "AMPD2_000018" "g.110172109G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109629487G>A" "" "pathogenic" "" "0000347903" "0" "90" "1" "110173396" "110173397" "ins" "0" "02327" "AMPD2_000019" "g.110173396_110173397insATGA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109630774_109630775insATGA" "" "pathogenic" "" "0000349002" "0" "70" "1" "110170727" "110170727" "subst" "0" "02327" "AMPD2_000017" "g.110170727C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109628105C>T" "" "likely pathogenic" "" "0000350834" "0" "70" "1" "110169051" "110169051" "subst" "0" "02327" "AMPD2_000016" "g.110169051T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109626429T>G" "" "likely pathogenic" "" "0000369423" "3" "90" "1" "110169405" "110169405" "subst" "4.06888E-6" "01796" "AMPD2_000020" "g.110169405C>T" "" "{PMID:Marsh 2017:28168832}" "" "" "" "Germline" "yes" "" "0" "" "" "g.109626783C>T" "" "pathogenic" "" "0000369424" "3" "90" "1" "110172965" "110172965" "subst" "0" "01796" "AMPD2_000021" "g.110172965C>G" "" "{PMID:Marsh 2015:27066553}" "" "" "" "Germline" "yes" "" "0" "" "" "g.109630343C>G" "" "pathogenic" "" "0000369425" "3" "70" "1" "110173662" "110173662" "subst" "4.06573E-6" "01796" "AMPD2_000007" "g.110173662G>A" "" "{PMID:Vanderver 2016:27159321}" "" "" "" "Germline" "yes" "" "0" "" "" "g.109631040G>A" "" "likely pathogenic" "" "0000369426" "0" "70" "1" "110171359" "110171359" "subst" "0" "01796" "AMPD2_000023" "g.110171359C>T" "" "{PMID:Severino 2017:28972112}" "" "" "compound heterozygous with c.1112+1G>A" "Germline" "" "" "0" "" "" "g.109628737C>T" "" "likely pathogenic" "" "0000369427" "0" "70" "1" "110170141" "110170141" "subst" "0" "01796" "AMPD2_000022" "g.110170141G>A" "" "{PMID:Severino 2017:28972112}" "" "" "compound heterozygous with c.1664C>T" "Germline" "" "" "0" "" "" "g.109627519G>A" "" "likely pathogenic" "" "0000369428" "3" "70" "1" "110168394" "110168394" "del" "0" "01796" "AMPD2_000024" "g.110168394del" "" "{PMID:Accogli 2017:28815207}" "" "c.495delG (p.R165fs*21)" "" "Germline" "yes" "" "0" "" "" "g.109625772del" "" "likely pathogenic" "" "0000369429" "3" "90" "1" "110170075" "110170075" "subst" "0" "01796" "AMPD2_000025" "g.110170075C>A" "" "{PMID:Akizu 2013:23911318}" "" "" "" "Germline" "yes" "" "0" "" "" "g.109627453C>A" "" "pathogenic" "" "0000369430" "0" "90" "1" "110171349" "110171349" "del" "0" "01796" "AMPD2_000026" "g.110171349del" "" "{PMID:Akizu 2013:23911318}" "" "1652delG (Asp552Thrfs*66)" "" "Germline" "yes" "" "0" "" "" "g.109628727del" "" "pathogenic" "" "0000369431" "3" "90" "1" "110172109" "110172109" "subst" "2.03649E-5" "01796" "AMPD2_000018" "g.110172109G>A" "" "{PMID:Akizu 2013:23911318}" "" "" "" "Germline" "yes" "" "0" "" "" "g.109629487G>A" "" "pathogenic" "" "0000369432" "3" "90" "1" "110173317" "110173317" "subst" "0" "01796" "AMPD2_000027" "g.110173317G>C" "" "{PMID:Akizu 2013:23911318}" "" "" "" "Germline" "yes" "" "0" "" "" "g.109630695G>C" "" "pathogenic" "" "0000369433" "3" "90" "1" "110173362" "110173362" "subst" "0" "01796" "AMPD2_000028" "g.110173362G>T" "" "{PMID:Akizu 2013:23911318}" "" "" "" "Germline" "yes" "" "0" "" "" "g.109630740G>T" "" "pathogenic" "" "0000502408" "0" "70" "1" "110169405" "110169405" "subst" "4.06888E-6" "01943" "AMPD2_000020" "g.110169405C>T" "" "" "" "AMPD2(NM_001257360.1):c.751C>T (p.R251W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109626783C>T" "" "likely pathogenic" "" "0000502410" "0" "30" "1" "110171985" "110171985" "subst" "4.06085E-6" "01804" "AMPD2_000032" "g.110171985C>T" "" "" "" "AMPD2(NM_001257360.1):c.1897C>T (p.(Pro633Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109629363C>T" "" "likely benign" "" "0000620326" "0" "30" "1" "110172980" "110172980" "subst" "2.84262E-5" "01943" "AMPD2_000033" "g.110172980C>T" "" "" "" "AMPD2(NM_001257360.1):c.2271C>T (p.L757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109630358C>T" "" "likely benign" "" "0000653578" "0" "30" "1" "110171966" "110171966" "subst" "0.000844732" "01943" "AMPD2_000034" "g.110171966C>T" "" "" "" "AMPD2(NM_001257360.1):c.1878C>T (p.S626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109629344C>T" "" "likely benign" "" "0000675233" "3" "50" "1" "110171334" "110171334" "subst" "0" "01164" "AMPD2_000035" "g.110171334T>C" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000675393" "0" "30" "1" "110163746" "110163746" "subst" "0.000766799" "01943" "AMPD2_000036" "g.110163746C>G" "" "" "" "AMPD2(NM_001308170.1):c.17C>G (p.A6G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675394" "0" "30" "1" "110173771" "110173771" "subst" "0.000590325" "01943" "AMPD2_000037" "g.110173771A>G" "" "" "" "AMPD2(NM_001257360.1):c.2637A>G (p.Q879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716665" "0" "30" "1" "110171120" "110171120" "subst" "0.00271546" "01943" "AMPD2_000038" "g.110171120A>G" "" "" "" "AMPD2(NM_001257360.1):c.1569+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763179" "3" "70" "1" "110171314" "110171314" "subst" "0" "00006" "AMPD2_000039" "g.110171314G>A" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PM1, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.109628692G>A" "" "likely pathogenic" "ACMG" "0000798649" "0" "90" "1" "110169446" "110169446" "del" "0" "02325" "AMPD2_000040" "g.110169446del" "" "" "" "AMPD2(NM_001368809.2):c.630delC (p.T211Pfs*98)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798650" "0" "30" "1" "110172478" "110172478" "subst" "0" "01943" "AMPD2_000041" "g.110172478C>T" "" "" "" "AMPD2(NM_001257360.1):c.2085C>T (p.H695=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798651" "0" "30" "1" "110172863" "110172863" "subst" "0.000472763" "01943" "AMPD2_000042" "g.110172863C>T" "" "" "" "AMPD2(NM_001257360.1):c.2154C>T (p.V718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848225" "0" "30" "1" "110172863" "110172863" "subst" "0.000472763" "02326" "AMPD2_000042" "g.110172863C>T" "" "" "" "AMPD2(NM_001257360.1):c.2154C>T (p.V718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973165" "0" "30" "1" "110168281" "110168281" "dup" "0" "01804" "AMPD2_000043" "g.110168281dup" "" "" "" "AMPD2(NM_001368809.2):c.223-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973166" "0" "50" "1" "110169524" "110169524" "subst" "0.000446293" "01804" "AMPD2_000044" "g.110169524T>G" "" "" "" "AMPD2(NM_001368809.2):c.708T>G (p.(Pro236=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031040" "0" "50" "1" "110163805" "110163805" "subst" "0.000155619" "01804" "AMPD2_000045" "g.110163805C>T" "" "" "" "AMPD2(NM_001368809.2):c.8C>T (p.(Ser3Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031041" "0" "50" "1" "110167952" "110167952" "subst" "0" "01804" "AMPD2_000046" "g.110167952C>G" "" "" "" "AMPD2(NM_001368809.2):c.119C>G (p.(Pro40Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031042" "0" "50" "1" "110169369" "110169369" "subst" "0" "01804" "AMPD2_000047" "g.110169369G>C" "" "" "" "AMPD2(NM_001368809.2):c.553G>C (p.(Asp185His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes AMPD2 ## Count = 48 "{{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}}" "0000154117" "00002443" "90" "319" "0" "319" "0" "c.319del" "r.(?)" "p.(Cys107Alafs*80)" "3" "0000224484" "00002443" "70" "1424" "0" "1436" "0" "c.1424_1436dup" "r.(?)" "p.(Asp480Glyfs*13)" "11" "0000224501" "00002443" "50" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Glu550Lys)" "13" "0000224502" "00002443" "50" "1133" "0" "1133" "0" "c.1133G>C" "r.(?)" "p.(Arg378Pro)" "10" "0000224503" "00002443" "50" "1232" "0" "1232" "0" "c.1232A>G" "r.(?)" "p.(Asn411Ser)" "10" "0000224504" "00002443" "50" "682" "0" "682" "0" "c.682G>T" "r.(?)" "p.(Glu228*)" "6" "0000224505" "00002443" "70" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Arg843His)" "19" "0000224506" "00002443" "50" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Arg378Trp)" "10" "0000224507" "00002443" "50" "2128" "0" "2128" "0" "c.2128G>A" "r.(?)" "p.(Gly710Arg)" "16" "0000245489" "00002443" "10" "1022" "19" "1022" "19" "c.1022+19A>G" "r.(=)" "p.(=)" "" "0000257690" "00002443" "10" "2641" "0" "2641" "0" "c.*1G>T" "r.(=)" "p.(=)" "" "0000257691" "00002443" "10" "1266" "0" "1266" "0" "c.1266G>A" "r.(?)" "p.(Ser422=)" "" "0000257692" "00002443" "10" "1434" "0" "1434" "0" "c.1434T>C" "r.(?)" "p.(His478=)" "" "0000257693" "00002443" "30" "1806" "0" "1806" "0" "c.1806C>T" "r.(?)" "p.(Phe602=)" "" "0000257694" "00002443" "70" "528" "0" "528" "0" "c.528del" "r.(?)" "p.(Asp176GlufsTer11)" "" "0000343246" "00002443" "90" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Arg674His)" "" "0000347903" "00002443" "90" "2411" "0" "2412" "0" "c.2411_2412insATGA" "r.(?)" "p.(Met804IlefsTer2)" "" "0000349002" "00002443" "70" "1265" "0" "1265" "0" "c.1265C>T" "r.(?)" "p.(Ser422Leu)" "" "0000350834" "00002443" "70" "693" "2" "693" "2" "c.693+2T>G" "r.spl?" "p.?" "" "0000369423" "00002443" "90" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251Trp)" "6" "0000369424" "00002443" "90" "2256" "0" "2256" "0" "c.2256C>G" "r.(?)" "p.(Tyr752*)" "16" "0000369425" "00002443" "70" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Arg843His)" "17" "0000369426" "00002443" "70" "1664" "0" "1664" "0" "c.1664C>T" "r.(?)" "p.(Ala555Val)" "12" "0000369427" "00002443" "70" "1112" "1" "1112" "1" "c.1112+1G>A" "r.spl" "p.?" "4i" "0000369428" "00002443" "70" "495" "0" "495" "0" "c.495del" "r.(?)" "p.(Gln166Argfs*21)" "3" "0000369429" "00002443" "90" "1047" "0" "1047" "0" "c.1047C>A" "r.(?)" "p.(Tyr349*)" "8" "0000369430" "00002443" "90" "1654" "0" "1654" "0" "c.1654del" "r.(?)" "p.(Asp552Thrfs*67)" "12" "0000369431" "00002443" "90" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Arg674His)" "14" "0000369432" "00002443" "90" "2332" "0" "2332" "0" "c.2332G>C" "r.(?)" "p.(Glu778Gln)" "17" "0000369433" "00002443" "90" "2377" "0" "2377" "0" "c.2377G>T" "r.(?)" "p.(Asp793Tyr)" "17" "0000502408" "00002443" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251Trp)" "" "0000502410" "00002443" "30" "1897" "0" "1897" "0" "c.1897C>T" "r.(?)" "p.(Pro633Ser)" "" "0000620326" "00002443" "30" "2271" "0" "2271" "0" "c.2271C>T" "r.(?)" "p.(Leu757=)" "" "0000653578" "00002443" "30" "1878" "0" "1878" "0" "c.1878C>T" "r.(?)" "p.(Ser626=)" "" "0000675233" "00002443" "50" "1639" "0" "1639" "0" "c.1639T>C" "r.(?)" "p.(Ser547Pro)" "" "0000675393" "00002443" "30" "111" "0" "111" "0" "c.111C>G" "r.(?)" "p.(Gly37=)" "" "0000675394" "00002443" "30" "2637" "0" "2637" "0" "c.2637A>G" "r.(?)" "p.(Gln879=)" "" "0000716665" "00002443" "30" "1569" "3" "1569" "3" "c.1569+3A>G" "r.spl?" "p.?" "" "0000763179" "00002443" "70" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Arg540Gln)" "" "0000798649" "00002443" "90" "792" "0" "792" "0" "c.792del" "r.(?)" "p.(Thr265Profs*98)" "" "0000798650" "00002443" "30" "2085" "0" "2085" "0" "c.2085C>T" "r.(?)" "p.(His695=)" "" "0000798651" "00002443" "30" "2154" "0" "2154" "0" "c.2154C>T" "r.(?)" "p.(Val718=)" "" "0000848225" "00002443" "30" "2154" "0" "2154" "0" "c.2154C>T" "r.(?)" "p.(Val718=)" "" "0000973165" "00002443" "30" "385" "-3" "385" "-3" "c.385-3dup" "r.spl?" "p.?" "" "0000973166" "00002443" "50" "870" "0" "870" "0" "c.870T>G" "r.(?)" "p.(Pro290=)" "" "0001031040" "00002443" "50" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Ser57Phe)" "" "0001031041" "00002443" "50" "281" "0" "281" "0" "c.281C>G" "r.(?)" "p.(Pro94Arg)" "" "0001031042" "00002443" "50" "715" "0" "715" "0" "c.715G>C" "r.(?)" "p.(Asp239His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000095547" "0000154117" "0000134482" "0000224484" "0000134499" "0000224501" "0000134500" "0000224502" "0000134500" "0000224503" "0000134501" "0000224504" "0000134501" "0000224505" "0000134502" "0000224506" "0000134503" "0000224507" "0000165687" "0000369423" "0000165688" "0000369424" "0000165689" "0000369425" "0000165690" "0000369426" "0000165690" "0000369427" "0000165691" "0000369428" "0000165692" "0000369429" "0000165693" "0000369430" "0000165694" "0000369431" "0000165695" "0000369432" "0000165696" "0000369433" "0000308288" "0000675233" "0000362805" "0000763179"