### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDE10A) # 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}}" "PDE10A" "phosphodiesterase 10A" "6" "q26" "unknown" "NG_031878.2" "UD_136019298404" "" "http://www.LOVD.nl/PDE10A" "" "1" "8772" "10846" "610652" "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/PDE10A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-18 12:32:56" "00000" "2024-08-28 13:16:32" ## 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}}" "00015894" "PDE10A" "transcript variant 1" "001" "NM_001130690.2" "" "NP_001124162.1" "" "" "" "-87" "8108" "2370" "166075588" "165740776" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05190" "IOLOD" "dyskinesia, limb and orofacial, infantile-onset (IOLOD)" "AR" "616921" "" "" "" "00006" "2016-10-11 08:48:18" "00006" "2021-12-10 21:51:32" "05191" "ADSD2" "degeneration, striatal, autosomal dominant, type 2 (ADSD2)" "AD" "616922" "" "" "" "00006" "2016-10-11 08:50:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PDE10A" "05190" "PDE10A" "05191" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00065109" "" "" "" "1" "" "01606" "{PMID:Mencacci 2016:27058447}, {DOI:Mencacci 2016:10.1016/j.ajhg.2016.02.015}" "" "M" "" "(Netherlands)" ">11y" "0" "" "" "European" "27058447 induvidual 1" "00065110" "" "" "" "1" "" "01606" "{PMID:Mencacci 2016:27058447}, {DOI:Mencacci 2016:10.1016/j.ajhg.2016.02.015}" "" "F" "" "(United Kingdom (Great Britain))" ">22y" "0" "" "" "European" "27058447 induvidual 2" "00065113" "" "" "" "1" "" "01606" "{PMID:Mencacci 2016:27058447}, {DOI:Mencacci 2016:10.1016/j.ajhg.2016.02.015}" "" "F" "" "(United Kingdom (Great Britain))" ">60y" "0" "" "" "European" "27058447 induvidual 3" "00065117" "" "" "" "5" "" "01606" "{PMID:Diggle 2016:27058446}, {DOI:Diggle 2016:10.1016/j.ajhg.2016.03.015}" "2 generation family, 5 affecteds, unaffected heterozygous carrier parents, Fam1PatV1" "F" "yes" "Pakistan" ">17y" "0" "" "" "" "27058446-Fam1PatV1" "00065118" "" "" "00065117" "1" "" "01606" "{PMID:Diggle 2016:27058446}, {DOI:Diggle 2016:10.1016/j.ajhg.2016.03.015}" "Fam1PatV2" "F" "yes" "Pakistan" ">16y" "0" "" "" "" "27058446-Fam1PatV2" "00065119" "" "" "00065117" "1" "" "01606" "{PMID:Diggle 2016:27058446}, {DOI:Diggle 2016:10.1016/j.ajhg.2016.03.015}" "Fam1PatV3" "F" "yes" "Pakistan" ">13y" "0" "" "" "" "27058446-Fam1PatV3" "00065120" "" "" "00065117" "1" "" "01606" "{PMID:Diggle 2016:27058446}, {DOI:Diggle 2016:10.1016/j.ajhg.2016.03.015}" "Fam1PatV4" "M" "yes" "Pakistan" ">02y" "0" "" "" "" "27058446-Fam1PatV4" "00065121" "" "" "" "2" "" "01606" "{PMID:Diggle 2016:27058446}, {DOI:Diggle 2016:10.1016/j.ajhg.2016.03.015}" "2 generation family, affected sister/brother, unaffected heterozygous carrier parents, Fam2PatIV1" "M" "yes" "Finland" ">10y" "0" "" "" "" "27058446-Fam2PatIV1" "00065122" "" "" "00065121" "1" "" "01606" "{PMID:Diggle 2016:27058446}, {DOI:Diggle 2016:10.1016/j.ajhg.2016.03.015}" "Fam2PatIV2" "M" "yes" "Finland" ">09y" "0" "" "" "" "27058446-Fam2PatIV2" "00065255" "" "" "" "1" "" "01604" "{PMID:Niccolò 2016:27058447}, {DOI:Niccolò 2016:10.1016/j.ajhg.2016.02.015}" "2 generation family, 1 affected, unaffected non-carrier parents" "M" "" "" ">11y" "0" "" "" "Dutch" "" "00065285" "" "" "" "1" "" "01604" "{PMID:Niccolò 2016:27058447}, {DOI:Niccolò 2016:10.1016/j.ajhg.2016.02.015}" "2 generation family, 1 affected, unaffected non-carrier parents" "F" "" "" ">22y" "0" "" "" "British" "" "00065286" "" "" "" "1" "" "01604" "{PMID:Niccolò 2016:27058447}, {DOI:Niccolò 2016:10.1016/j.ajhg.2016.02.015}" "2 generation family, 1 affected, unaffected non-carrier sibs, parents deceased" "F" "" "" ">60y" "0" "" "" "British" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00065109" "05191" "00065110" "05191" "00065113" "05191" "00065117" "05190" "00065118" "05190" "00065119" "05190" "00065120" "05190" "00065121" "05190" "00065122" "05190" "00065255" "05191" "00065285" "05191" "00065286" "05191" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05190, 05191 ## Count = 12 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000060992" "05191" "00065109" "01606" "Isolated (sporadic)" "11y" "no neural developmental delay (-HP:0001263), no Cognitive impairment (-HP:0100543), Bilateral striatal swelling (HP:0010994), Bilateral striatal hyperintensities (HP:0010994), No bilateral striatal atrophy (-HP:0010994), restriction of diffusion" ">05y" "" "" "" "" "" "" "" "" "0000060993" "05191" "00065110" "01606" "Isolated (sporadic)" "22y" "no neural developmental delay (-HP:0001263), no Cognitive impairment (-HP:0100543), Bilateral striatal hyperintensities (HP:0010994), No bilateral striatal swelling (-HP:0010994), No restriction of diffusion, Bilateral striatal atrophy (HP:0010994), Anxiety (HP:0000739)" ">08y" "" "" "" "" "" "" "" "" "0000060994" "05191" "00065113" "01606" "Isolated (sporadic)" "60y" "no neural developmental delay (-HP:0001263), no Cognitive impairment (-HP:0100543), Bilateral striatal hyperintensities (HP:0010994), No bilateral striatal swelling (-HP:0010994), Bilateral striatal atrophy (HP:0010994), adult-onset parkinsonism (HP:0001300)" ">05y" "" "" "" "" "" "" "" "" "0000060995" "05190" "00065117" "01606" "Familial, autosomal recessive" "17y" "muscular hypotonia of the trunk (HP:0008936), dyskinesia of the limbs and trunk (HP:0100660), chorea (HP:0002072), ballismus (HP:0100248), orolingual dyskinesia(HP:0002310), drooling (HP:0002307), dysarthria (HP_0001260), no cognitive developmental delay (-HP_0001263)" "00y04m" "" "" "" "" "" "" "" "" "0000060996" "05190" "00065120" "01606" "Familial, autosomal recessive" "02y" "muscular hypotonia of the trunk (HP:0008936), dyskinesia of the limbs and trunk (HP:0100660), chorea (HP:0002072), ballismus (HP:0100248), orolingual dyskinesia(HP:0002310), drooling (HP:0002307), dysarthria (HP_0001260), no cognitive developmental delay (-HP_0001263)" "00y02m" "" "" "" "" "" "" "" "" "0000060997" "05190" "00065119" "01606" "Familial, autosomal recessive" "13y" "muscular hypotonia of the trunk (HP:0008936), dyskinesia of the limbs and trunk (HP:0100660), chorea (HP:0002072), ballismus (HP:0100248), orolingual dyskinesia(HP:0002310), drooling (HP:0002307), dysarthria (HP_0001260), no cognitive developmental delay (-HP_0001263)" "00y03m" "" "" "" "" "" "" "" "" "0000060998" "05190" "00065118" "01606" "Familial, autosomal recessive" "16y" "muscular hypotonia of the trunk (HP:0008936), dyskinesia of the limbs and trunk (HP:0100660), chorea (HP:0002072), ballismus (HP:0100248), orolingual dyskinesia(HP:0002310), drooling (HP:0002307), dysarthria (HP_0001260), no cognitive developmental delay (-HP_0001263)" "00y06m" "" "" "" "" "" "" "" "" "0000060999" "05190" "00065121" "01606" "Familial, autosomal recessive" "10y" "dyskinesia (HP:0100660), Myoclonus (HP:0001336), Chorea (HP:0002072), Dystonia (HP:0001332), Dysarthria (HP:0001260), Muscular hypotonia of the trunk (HP:0008936), developmental delay (HP:0001263)," "00y04m" "" "" "" "" "" "" "" "" "0000061000" "05190" "00065122" "01606" "Familial, autosomal recessive" "09y" "dyskinesia (HP:0100660), Myoclonus (HP:0001336), Chorea (HP:0002072), Dystonia (HP:0001332), Dysarthria (HP:0001260), Muscular hypotonia of the trunk (HP:0008936), developmental delay (HP:0001263), feeds via a gastrostomy tube (HP:0011968), focal epilepsy (HP:0001250)" "00y04m" "" "" "" "" "" "" "" "" "0000061001" "05191" "00065255" "01604" "Isolated (sporadic)" "11y" "no developmental millestones (-HP:?), no cognition abnormality (HP:0100543), chorea (HP:0002072), bilateral striatal hyperintensities (HP:?), bilateral striatal swelling (HP:?), restriction of diffusion (HP:?), no bilateral striatal atrophy (-HP:?)" "05y" "" "" "" "" "" "" "" "" "0000061002" "05191" "00065285" "01604" "Isolated (sporadic)" "22y" "no developmental millestones (-HP:?), no cognition abnormality (HP:0100543), chorea (HP:0002072), anxiety (HP:0000739), bilateral striatal hyperintensities (HP:?), no bilateral striatal swelling (-HP:?), no restriction of diffusion (-HP:?), bilateral striatal atrophy (HP:?)" "08y" "" "" "" "" "" "" "" "" "0000061003" "05191" "00065286" "01604" "Isolated (sporadic)" "60y" "no developmental millestones (-HP:?), no cognition abnormality (HP:0100543), chorea (HP:0002072), adult-onset parkinsonism (OMIM:612953), bilateral striatal hyperintensities (HP:?), no bilateral striatal swelling (-HP:?), bilateral striatal atrophy (HP:?)" "05y" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065260" "00065109" "1" "01606" "01606" "2016-05-18 13:57:23" "" "" "SEQ" "DNA" "peripheral lymphocytes" "" "0000065262" "00065110" "1" "01606" "01606" "2016-05-18 14:15:59" "" "" "SEQ" "DNA" "peripheral lymphocytes" "" "0000065264" "00065113" "1" "01606" "01606" "2016-05-18 14:28:57" "01606" "2016-05-19 10:08:02" "SEQ" "DNA" "peripheral lymphocytes" "" "0000065268" "00065117" "1" "01606" "01606" "2016-05-18 15:45:17" "" "" "arraySNP;SEQ" "DNA" "" "" "0000065269" "00065118" "1" "01606" "01606" "2016-05-19 10:02:25" "" "" "arraySNP;SEQ" "DNA" "" "" "0000065270" "00065119" "1" "01606" "01606" "2016-05-19 10:12:43" "" "" "arraySNP;SEQ" "DNA" "" "" "0000065271" "00065120" "1" "01606" "01606" "2016-05-19 10:23:33" "" "" "arraySNP;SEQ" "DNA" "" "" "0000065272" "00065121" "1" "01606" "01606" "2016-05-19 10:55:44" "" "" "SEQ" "DNA" "" "" "0000065273" "00065122" "1" "01606" "01606" "2016-05-19 11:01:43" "" "" "SEQ" "DNA" "" "" "0000065436" "00065255" "1" "01604" "01604" "2016-05-26 14:24:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000065437" "00065285" "1" "01604" "01604" "2016-05-26 14:32:03" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000065439" "00065286" "1" "01604" "01604" "2016-05-26 14:39:46" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000065260" "PDE10A" "0000065262" "PDE10A" "0000065264" "PDE10A" "0000065268" "PDE10A" "0000065269" "PDE10A" "0000065270" "PDE10A" "0000065271" "PDE10A" "0000065272" "PDE10A" "0000065273" "PDE10A" "0000065436" "PDE10A" "0000065437" "PDE10A" "0000065439" "PDE10A" ## 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 = 23 "{{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}}" "0000096929" "0" "90" "6" "165829768" "165829768" "subst" "0" "01606" "PDE10A_000003" "g.165829768A>G" "" "{PMID:Mencacci 2016:27058447}, {DOI:Mencacci et al.:10.1016/j.ajhg.2016.02.015}" "" "" "" "De novo" "" "" "" "" "" "g.165416280A>G" "" "pathogenic" "" "0000096931" "0" "90" "6" "165832223" "165832223" "subst" "0" "01606" "PDE10A_000004" "g.165832223A>G" "" "{PMID:Mencacci 2016:27058447}, {DOI:Mencacci et al.:10.1016/j.ajhg.2016.02.015}" "" "" "" "De novo" "" "" "" "" "" "g.165418735A>G" "" "pathogenic" "" "0000096932" "0" "90" "6" "165832223" "165832223" "subst" "0" "01606" "PDE10A_000004" "g.165832223A>G" "" "{PMID:Mencacci 2016:27058447}, {DOI:Mencacci et al.:10.1016/j.ajhg.2016.02.015}" "" "" "" "De novo" "" "" "" "" "" "g.165418735A>G" "" "pathogenic" "" "0000096937" "3" "90" "6" "165863756" "165863756" "subst" "4.09236E-6" "01606" "PDE10A_000002" "g.165863756T>C" "" "{PMID:Diggle 2016:27058446}, {DOI:Diggle 2016:10.1016/j.ajhg.2016.03.015}" "" "" "" "Germline" "" "" "" "" "" "g.165450268T>C" "" "pathogenic" "" "0000096938" "3" "90" "6" "165863756" "165863756" "subst" "4.09236E-6" "01606" "PDE10A_000002" "g.165863756T>C" "" "{PMID:Diggle 2016:27058446}, {DOI:Diggle 2016:10.1016/j.ajhg.2016.03.015}" "" "" "" "Germline" "" "" "" "" "" "g.165450268T>C" "" "pathogenic" "" "0000096939" "3" "90" "6" "165863756" "165863756" "subst" "4.09236E-6" "01606" "PDE10A_000002" "g.165863756T>C" "" "{PMID:Diggle 2016:27058446}, {DOI:Diggle 2016:10.1016/j.ajhg.2016.03.015}" "" "" "" "Germline" "" "" "" "" "" "g.165450268T>C" "" "pathogenic" "" "0000096940" "3" "90" "6" "165863756" "165863756" "subst" "4.09236E-6" "01606" "PDE10A_000002" "g.165863756T>C" "" "{PMID:Diggle 2016:27058446}, {DOI:Diggle 2016:10.1016/j.ajhg.2016.03.015}" "" "" "" "Germline" "" "" "" "" "" "g.165450268T>C" "" "pathogenic" "" "0000096941" "3" "90" "6" "165863730" "165863730" "subst" "0" "01606" "PDE10A_000001" "g.165863730C>G" "" "{PMID:Diggle 2016:27058446}, {DOI:Diggle 2016:10.1016/j.ajhg.2016.03.015}" "" "" "" "Germline" "" "" "" "" "" "g.165450242C>G" "" "pathogenic" "" "0000096942" "3" "90" "6" "165863730" "165863730" "subst" "0" "01606" "PDE10A_000001" "g.165863730C>G" "" "{PMID:Diggle 2016:27058446}, {DOI:Diggle 2016:10.1016/j.ajhg.2016.03.015}" "" "" "" "Germline" "" "" "" "" "" "g.165450242C>G" "" "pathogenic" "" "0000097124" "1" "90" "6" "165829768" "165829768" "subst" "0" "01604" "PDE10A_000003" "g.165829768A>G" "" "{PMID:Niccolò 2016:27058447}, {DOI:Niccolò 2016:10.1016/j.ajhg.2016.02.015}" "" "" "" "De novo" "" "" "" "" "" "g.165416280A>G" "" "pathogenic" "" "0000097125" "1" "90" "6" "165832223" "165832223" "subst" "0" "01604" "PDE10A_000004" "g.165832223A>G" "" "{PMID:Niccolò 2016:27058447}, {DOI:Niccolò 2016:10.1016/j.ajhg.2016.02.015}" "" "" "" "De novo" "" "" "" "" "" "g.165418735A>G" "" "pathogenic" "" "0000097126" "1" "90" "6" "165832223" "165832223" "subst" "0" "01604" "PDE10A_000004" "g.165832223A>G" "" "{PMID:Niccolò 2016:27058447}, {DOI:Niccolò 2016:10.1016/j.ajhg.2016.02.015}" "" "" "" "De novo" "" "" "" "" "" "g.165418735A>G" "" "pathogenic" "" "0000305322" "0" "30" "6" "165792715" "165792715" "subst" "5.71023E-5" "01943" "PDE10A_000005" "g.165792715G>A" "" "" "" "PDE10A(NM_006661.3):c.1923C>T (p.T641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165379226G>A" "" "likely benign" "" "0000527981" "0" "10" "6" "165749644" "165749644" "subst" "0.001706" "01943" "PDE10A_000007" "g.165749644G>C" "" "" "" "PDE10A(NM_006661.3):c.2205C>G (p.L735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165336155G>C" "" "benign" "" "0000527982" "0" "30" "6" "165846455" "165846455" "subst" "4.90064E-5" "01943" "PDE10A_000008" "g.165846455G>C" "" "" "" "PDE10A(NM_006661.3):c.663+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165432967G>C" "" "likely benign" "" "0000527983" "0" "30" "6" "165846536" "165846536" "subst" "7.31042E-5" "01943" "PDE10A_000009" "g.165846536T>C" "" "" "" "PDE10A(NM_006661.3):c.589A>G (p.I197V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165433048T>C" "" "likely benign" "" "0000527984" "0" "50" "6" "165848858" "165848858" "subst" "0.000362021" "01943" "PDE10A_000010" "g.165848858C>G" "" "" "" "PDE10A(NM_006661.3):c.374G>C (p.C125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165435370C>G" "" "VUS" "" "0000610220" "0" "30" "6" "165895838" "165895838" "del" "0" "01804" "PDE10A_000011" "g.165895838del" "" "" "" "PDE10A(NM_001130690.2):c.197-7del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165482350del" "" "likely benign" "" "0000720806" "0" "50" "6" "165895829" "165895829" "subst" "0" "02329" "PDE10A_000012" "g.165895829C>T" "" "" "" "PDE10A(NM_006661.4):c.169G>A (p.E57K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802444" "0" "30" "6" "165844970" "165844970" "dup" "0" "01943" "PDE10A_000013" "g.165844970dup" "" "" "" "PDE10A(NM_006661.3):c.664-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802445" "0" "30" "6" "165848730" "165848730" "subst" "8.15687E-6" "01943" "PDE10A_000014" "g.165848730G>T" "" "" "" "PDE10A(NM_006661.3):c.502C>A (p.L168I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802446" "0" "30" "6" "165848781" "165848781" "subst" "4.06144E-5" "01943" "PDE10A_000015" "g.165848781C>T" "" "" "" "PDE10A(NM_006661.3):c.451G>A (p.V151I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995547" "0" "50" "6" "165842157" "165842157" "subst" "0" "01804" "PDE10A_000016" "g.165842157C>T" "" "" "" "PDE10A(NM_001130690.2):c.844G>A (p.(Glu282Lys))" "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 PDE10A ## Count = 23 "{{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}}" "0000096929" "00015894" "90" "1000" "0" "1000" "0" "c.1000T>C" "r.(?)" "p.(Phe334Leu)" "12" "0000096931" "00015894" "90" "898" "0" "898" "0" "c.898T>C" "r.(?)" "p.(Phe300Leu)" "11" "0000096932" "00015894" "90" "898" "0" "898" "0" "c.898T>C" "r.(?)" "p.(Phe300Leu)" "11" "0000096937" "00015894" "90" "320" "0" "320" "0" "c.320A>G" "r.(?)" "p.(Tyr107Cys)" "4" "0000096938" "00015894" "90" "320" "0" "320" "0" "c.320A>G" "r.(?)" "p.(Tyr107Cys)" "4" "0000096939" "00015894" "90" "320" "0" "320" "0" "c.320A>G" "r.(?)" "p.(Tyr107Cys)" "4" "0000096940" "00015894" "90" "320" "0" "320" "0" "c.320A>G" "r.(?)" "p.(Tyr107Cys)" "4" "0000096941" "00015894" "90" "346" "0" "346" "0" "c.346G>C" "r.(?)" "p.(Ala116Pro)" "4" "0000096942" "00015894" "90" "346" "0" "346" "0" "c.346G>C" "r.(?)" "p.(Ala116Pro)" "4" "0000097124" "00015894" "90" "1000" "0" "1000" "0" "c.1000T>C" "r.(?)" "p.(Phe334Leu)" "12" "0000097125" "00015894" "90" "898" "0" "898" "0" "c.898T>C" "r.(?)" "p.(Phe300Leu)" "11" "0000097126" "00015894" "90" "898" "0" "898" "0" "c.898T>C" "r.(?)" "p.(Phe300Leu)" "11" "0000305322" "00015894" "30" "1953" "0" "1953" "0" "c.1953C>T" "r.(?)" "p.(Thr651=)" "" "0000527981" "00015894" "10" "2235" "0" "2235" "0" "c.2235C>G" "r.(?)" "p.(Leu745=)" "" "0000527982" "00015894" "30" "693" "7" "693" "7" "c.693+7C>G" "r.(=)" "p.(=)" "" "0000527983" "00015894" "30" "619" "0" "619" "0" "c.619A>G" "r.(?)" "p.(Ile207Val)" "" "0000527984" "00015894" "50" "404" "0" "404" "0" "c.404G>C" "r.(?)" "p.(Cys135Ser)" "" "0000610220" "00015894" "30" "197" "-7" "197" "-7" "c.197-7del" "r.(=)" "p.(=)" "" "0000720806" "00015894" "50" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Glu67Lys)" "" "0000802444" "00015894" "30" "694" "-3" "694" "-3" "c.694-3dup" "r.spl?" "p.?" "" "0000802445" "00015894" "30" "532" "0" "532" "0" "c.532C>A" "r.(?)" "p.(Leu178Ile)" "" "0000802446" "00015894" "30" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Val161Ile)" "" "0000995547" "00015894" "50" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Glu282Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000065260" "0000096929" "0000065262" "0000096931" "0000065264" "0000096932" "0000065268" "0000096937" "0000065269" "0000096938" "0000065270" "0000096939" "0000065271" "0000096940" "0000065272" "0000096941" "0000065273" "0000096942" "0000065436" "0000097124" "0000065437" "0000097125" "0000065439" "0000097126"