### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP9A) # 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}}" "ATP9A" "ATPase, class II, type 9A" "20" "q13.2" "unknown" "NC_000020.10" "UD_132464766558" "" "https://www.LOVD.nl/ATP9A" "" "1" "13540" "10079" "609126" "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/ATP9A_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-06-27 16:11:46" "00000" "2025-11-01 13:22:20" ## 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}}" "00025714" "ATP9A" "mRNA" "000" "NM_006045.3" "" "NP_006036.1" "" "" "" "-21" "7841" "3144" "50384929" "50213053" "00006" "2022-06-27 16:09:34" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07086" "NEDGBA" "neurodevelopmental disorder with poor growth and behavioral abnormalities" "AR" "620242" "" "" "" "00006" "2024-05-28 15:50:54" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ATP9A" "05611" "ATP9A" "07086" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00412326" "" "" "" "2" "" "00006" "{PMID:Vogt 2022:34379057}" "2-generation family, 2 affected brothers" "M" "yes" "Syria" "" "0" "" "" "" "FamAPatII1" "00412327" "" "" "00412326" "1" "" "00006" "{PMID:Vogt 2022:34379057}" "brother" "M" "yes" "Syria" "" "0" "" "" "" "FamAPatII2" "00412328" "" "" "" "1" "" "00006" "{PMID:Vogt 2022:34379057}" "" "M" "yes" "Turkey" "" "0" "" "" "" "FamBPatII1" "00449869" "" "" "" "1" "" "04653" "" "" "F" "" "" "" "" "" "" "" "" "00450473" "" "" "" "1" "" "02184" "" "" "F" "" "Spain" "" "" "" "" "" "" "00450474" "" "" "" "1" "" "02184" "" "" "M" "no" "France" "" "" "" "" "" "" "00450475" "" "" "" "1" "" "02184" "" "" "F" "" "Belgium" "" "" "" "" "" "" "00450476" "" "" "" "1" "" "02184" "" "" "" "" "Belgium" "" "" "" "" "" "" "00450477" "" "" "" "1" "" "02184" "" "" "F" "yes" "France" "" "" "" "" "" "" "00450478" "" "" "" "1" "" "02184" "" "" "M" "" "France" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00412326" "05611" "00412327" "05611" "00412328" "05611" "00449869" "00212" "00450473" "00198" "00450474" "00198" "00450475" "00198" "00450476" "00198" "00450477" "00198" "00450478" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00212, 01157, 05611, 07086 ## Count = 11 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000304331" "05611" "00412326" "00006" "Familial, autosomal recessive" "12y3m" "see paper; ..., length 125 cm (−3.71 SD), weight 26.3 kg (−2.95 SD), OFC 49.5 cm (−3.10 SD); motor delay (HP:0001270); speech delay (HP:0000750); fine motor impairment (HP:0007010); mild intellectul disability (HP:0001256); hyperactivity (HP:0000752); short attention span (HP:0000736); sleep disturbance (HP:0002360); postnatal microcephaly (HP:0005484); smooth philtrum (HP:0000319); thin upper lip vermilion (HP:0000219); strabismus (HP:0000486); 2–3 toe cutaneous syndactyly (HP:0005709); no high palate (-HP:0000218); no hypoplasia of the cerebellar vermis (-HP:0006817); no hypoplasia of the corpus callosum (-HP:0002079); no delayed myelination (-HP:0012448); nausea and vomiting (HP:0002017); gastro-oesophageal reflux (HP:0002020); failure to thrive (HP:0001508)" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000304332" "05611" "00412327" "00006" "Familial, autosomal recessive" "4y5m" "see paper; ..., birth 38w+1, weight 3492 g (0.36 SD), length 56 cm (2.08 SD), OFC 34.5 cm (−0.33 SD); length 101 cm (−1.66 SD), weight 13.8 kg (−2.50 SD), OFC 48 cm (−2.33 SD); motor delay (HP:0001270); speech delay (HP:0000750); fine motor impairment (HP:0007010); mild intellectul disability (HP:0001256); no hyperactivity (-HP:0000752); short attention span (HP:0000736); no sleep disturbance (-HP:0002360); postnatal microcephaly (HP:0005484); smooth philtrum (HP:0000319); thin upper lip vermilion (HP:0000219); no strabismus (-HP:0000486); no 2–3 toe cutaneous syndactyly (-HP:0005709); no high palate (-HP:0000218); nausea and vomiting (HP:0002017); gastro-oesophageal reflux (HP:0002020); failure to thrive (HP:0001508)" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000304333" "05611" "00412328" "00006" "Familial, autosomal recessive" "9y7m" "see paper; ..., birth 41w+2, weight 3570 g (−0.41 SD), length 50 cm (−1.37 SD), OFC 34 cm (−1.47 SD); length 121 cm (−3.10 SD), weight 19.6 kg (−4.01 SD), OFC 48 cm (−3.58 SD); motor delay (HP:0001270); speech delay (HP:0000750); fine motor impairment (HP:0007010); severe intellectul disability (HP:0010864); no hyperactivity (-HP:0000752); short attention span (HP:0000736); sleep disturbance (HP:0002360); postnatal microcephaly (HP:0005484); smooth philtrum (HP:0000319); thin upper lip vermilion (HP:0000219); no strabismus (-HP:0000486); 2–3 toe cutaneous syndactyly (HP:0005709); high palate (HP:0000218); hypoplasia of the cerebellar vermis (HP:0006817); hypoplasia of the corpus callosum (HP:0002079); delayed myelination (HP:0012448); nausea and vomiting (HP:0002017); gastro-oesophageal reflux (HP:0002020); failure to thrive (HP:0001508)" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000339016" "00212" "00449869" "04653" "Isolated (sporadic)" "" "Short stature, Psychomotor delay, Intellectual deficiency, moderate, Attention deficit hyperactivity disorder, Sleep abnormality, Microcephaly" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder with poor growth and behavioral abnormalities" "" "" "0000339533" "00198" "00450473" "02184" "Isolated (sporadic)" "" "" "" "" "developmental delay" "" "" "" "" "" "" "" "" "0000339536" "00198" "00450474" "02184" "Isolated (sporadic)" "" "" "" "" "developmental delay" "" "" "" "" "" "" "developmental delay" "" "0000339537" "00198" "00450475" "02184" "Isolated (sporadic)" "" "" "" "" "developmental delay" "" "" "" "" "" "" "developmental delay" "" "0000339538" "00198" "00450476" "02184" "Isolated (sporadic)" "" "" "" "" "developmental delay" "" "" "" "" "" "" "developmental delay" "" "0000339539" "00198" "00450477" "02184" "Isolated (sporadic)" "" "" "" "" "developmental delay" "" "" "" "" "" "" "developmental delay" "" "0000339540" "00198" "00450478" "02184" "Isolated (sporadic)" "" "" "" "" "developmental delay" "" "" "" "" "" "" "developmental delay" "" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000413598" "00412326" "1" "00006" "00006" "2022-06-27 16:46:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000413599" "00412327" "1" "00006" "00006" "2022-06-27 16:46:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000413600" "00412328" "1" "00006" "00006" "2022-06-27 16:46:36" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000451465" "00449869" "1" "04653" "04653" "2024-05-21 16:22:07" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000452069" "00450473" "1" "02184" "02184" "2024-05-28 13:25:46" "" "" "SEQ-NG" "DNA" "" "" "0000452071" "00450474" "1" "02184" "02184" "2024-05-28 13:37:51" "" "" "SEQ-NG" "DNA" "" "" "0000452072" "00450475" "1" "02184" "02184" "2024-05-28 13:40:29" "" "" "SEQ-NG" "DNA" "" "" "0000452073" "00450476" "1" "02184" "02184" "2024-05-28 13:43:37" "" "" "SEQ-NG" "DNA" "" "" "0000452074" "00450477" "1" "02184" "02184" "2024-05-28 13:46:37" "" "" "SEQ-NG" "DNA" "" "" "0000452075" "00450478" "1" "02184" "02184" "2024-05-28 13:49:48" "" "" "SEQ-NG" "DNA" "" "" "0000452076" "00450473" "1" "02184" "02184" "2024-05-28 13:59:01" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000452069" "ATP9A" "0000452071" "ATP9A" "0000452072" "ATP9A" "0000452073" "ATP9A" "0000452074" "ATP9A" "0000452075" "ATP9A" "0000452076" "ATP9A" ## 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 = 28 "{{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}}" "0000005975" "3" "50" "20" "50250524" "50250524" "subst" "0" "00037" "ATP9A_000001" "g.50250524C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51633985C>T" "" "VUS" "" "0000871107" "3" "90" "20" "50292679" "50292679" "subst" "0" "00006" "ATP9A_000006" "g.50292679G>A" "" "{PMID:Vogt 2022:34379057}" "" "" "" "Germline" "" "" "0" "" "" "g.51676140G>A" "" "pathogenic (recessive)" "" "0000871108" "3" "90" "20" "50292679" "50292679" "subst" "0" "00006" "ATP9A_000006" "g.50292679G>A" "" "{PMID:Vogt 2022:34379057}" "" "" "" "Germline" "" "" "0" "" "" "g.51676140G>A" "" "pathogenic (recessive)" "" "0000871109" "3" "90" "20" "50310546" "50310546" "subst" "0" "00006" "ATP9A_000007" "g.50310546C>T" "" "{PMID:Vogt 2022:34379057}" "" "" "" "Germline" "" "" "0" "" "" "g.51694007C>T" "" "pathogenic (recessive)" "" "0000915401" "0" "50" "20" "50235204" "50235204" "subst" "0" "02325" "ATP9A_000008" "g.50235204C>T" "" "" "" "ATP9A(NM_006045.3):c.2347G>A (p.V783I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983838" "0" "50" "20" "50230239" "50230239" "subst" "0" "01804" "ATP9A_000009" "g.50230239T>C" "" "" "" "ATP9A(NM_006045.3):c.2548A>G (p.(Ser850Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983839" "0" "30" "20" "50241724" "50241724" "subst" "1.667E-5" "01804" "ATP9A_000010" "g.50241724G>A" "" "" "" "ATP9A(NM_006045.3):c.2016+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983840" "0" "50" "20" "50241846" "50241846" "subst" "0" "01804" "ATP9A_000011" "g.50241846G>A" "" "" "" "ATP9A(NM_006045.3):c.1901C>T (p.(Thr634Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983841" "0" "50" "20" "50310554" "50310554" "subst" "0" "01804" "ATP9A_000012" "g.50310554G>A" "" "" "" "ATP9A(NM_006045.3):c.635C>T (p.(Thr212Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985364" "0" "70" "20" "50245540" "50245540" "subst" "0" "04653" "ATP9A_000013" "g.50245540G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.51629001G>C" "" "likely pathogenic (recessive)" "ACMG" "0000985365" "0" "70" "20" "50236424" "50243511" "del" "0" "04653" "ATP9A_000014" "g.50236424_50243511del" "" "" "" "1761+8_*83326del" "" "De novo" "" "" "0" "" "" "g.51619885_51626972del" "" "likely pathogenic (recessive)" "other" "0000986022" "0" "70" "20" "50329508" "50329508" "subst" "0" "02184" "ATP9A_000016" "g.50329508G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.51712969G>A" "" "likely pathogenic" "ACMG" "0000986023" "0" "70" "20" "50287656" "50287656" "subst" "0" "02184" "ATP9A_000017" "g.50287656G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.51671117G>C" "" "likely pathogenic" "ACMG" "0000986024" "0" "70" "20" "50286631" "50286631" "subst" "0" "02184" "ATP9A_000018" "g.50286631C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.51670092C>G" "" "likely pathogenic" "ACMG" "0000986025" "0" "70" "20" "50273602" "50273602" "subst" "0" "02184" "ATP9A_000019" "g.50273602T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.51657063T>C" "" "likely pathogenic" "" "0000986026" "0" "70" "20" "50255895" "50255895" "subst" "0" "02184" "ATP9A_000020" "g.50255895C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.51639356C>G" "" "likely pathogenic" "ACMG" "0000986027" "0" "70" "20" "50235561" "50235561" "subst" "0" "02184" "ATP9A_000021" "g.50235561G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.51619022G>C" "" "likely pathogenic" "ACMG" "0000986028" "0" "70" "20" "50225101" "50225101" "subst" "0" "02184" "ATP9A_000015" "g.50225101C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51608562C>A" "" "likely pathogenic" "ACMG" "0001005462" "0" "70" "20" "50230372" "50230372" "subst" "0" "01804" "ATP9A_000022" "g.50230372C>T" "" "" "" "ATP9A(NM_006045.1):c.2416-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043413" "0" "30" "20" "50230208" "50230208" "subst" "2.46099E-5" "01804" "ATP9A_000023" "g.50230208C>G" "" "" "" "ATP9A(NM_006045.3):c.2571+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043414" "0" "50" "20" "50235570" "50235570" "subst" "4.06428E-6" "01804" "ATP9A_000024" "g.50235570C>T" "" "" "" "ATP9A(NM_006045.3):c.2128G>A (p.(Gly710Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043415" "0" "30" "20" "50235591" "50235591" "subst" "0" "01804" "ATP9A_000025" "g.50235591G>A" "" "" "" "ATP9A(NM_006045.3):c.2116-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043416" "0" "30" "20" "50287802" "50287802" "subst" "0" "01804" "ATP9A_000026" "g.50287802C>T" "" "" "" "ATP9A(NM_006045.3):c.1038-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043417" "0" "50" "20" "50307342" "50307342" "subst" "2.43657E-5" "01804" "ATP9A_000027" "g.50307342C>T" "" "" "" "ATP9A(NM_006045.3):c.659G>A (p.(Arg220Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043418" "0" "50" "20" "50346470" "50346470" "subst" "0" "01804" "ATP9A_000028" "g.50346470C>T" "" "" "" "ATP9A(NM_006045.3):c.116G>A (p.(Arg39His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056927" "0" "50" "20" "50290756" "50290756" "subst" "8.12473E-6" "01804" "ATP9A_000029" "g.50290756C>A" "" "" "" "ATP9A(NM_006045.3):c.973G>T (p.(Ala325Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056928" "0" "30" "20" "50310547" "50310547" "subst" "0.000227843" "01804" "ATP9A_000030" "g.50310547G>A" "" "" "" "ATP9A(NM_006045.3):c.642C>T (p.(Ala214=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056929" "0" "50" "20" "50342399" "50342399" "subst" "0.000471238" "01804" "ATP9A_000031" "g.50342399C>T" "" "" "" "ATP9A(NM_006045.3):c.286G>A (p.(Glu96Lys))" "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 ATP9A ## Count = 28 "{{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}}" "0000005975" "00025714" "50" "1669" "-4913" "1669" "-4913" "c.1669-4913G>A" "r.(=)" "p.(=)" "" "0000871107" "00025714" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Ter)" "" "0000871108" "00025714" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Ter)" "" "0000871109" "00025714" "90" "642" "1" "642" "1" "c.642+1G>A" "r.547_642del" "p.Ser184Profs*16" "7i" "0000915401" "00025714" "50" "2347" "0" "2347" "0" "c.2347G>A" "r.(?)" "p.(Val783Ile)" "" "0000983838" "00025714" "50" "2548" "0" "2548" "0" "c.2548A>G" "r.(?)" "p.(Ser850Gly)" "" "0000983839" "00025714" "30" "2016" "7" "2016" "7" "c.2016+7C>T" "r.(=)" "p.(=)" "" "0000983840" "00025714" "50" "1901" "0" "1901" "0" "c.1901C>T" "r.(?)" "p.(Thr634Met)" "" "0000983841" "00025714" "50" "635" "0" "635" "0" "c.635C>T" "r.(?)" "p.(Thr212Met)" "" "0000985364" "00025714" "70" "1740" "0" "1740" "0" "c.1740C>G" "r.(?)" "p.(Tyr580Ter)" "16" "0000985365" "00025714" "70" "1845" "628" "2116" "-842" "c.1845+628_2116-842del" "r.?" "p.?" "17i_19i" "0000986022" "00025714" "70" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145*)" "" "0000986023" "00025714" "70" "1178" "0" "1178" "0" "c.1178C>G" "r.(?)" "p.(Thr393Arg)" "" "0000986024" "00025714" "70" "1198" "0" "1198" "0" "c.1198G>C" "r.(?)" "p.(Glu400Gln)" "" "0000986025" "00025714" "70" "1381" "0" "1381" "0" "c.1381A>G" "r.(?)" "p.(Lys461Glu)" "" "0000986026" "00025714" "70" "1655" "0" "1655" "0" "c.1655G>C" "r.(?)" "p.(Gly552Ala)" "" "0000986027" "00025714" "70" "2137" "0" "2137" "0" "c.2137C>G" "r.(?)" "p.(His713Asp)" "" "0000986028" "00025714" "70" "2701" "0" "2701" "0" "c.2701G>T" "r.(?)" "p.(Glu901*)" "" "0001005462" "00025714" "70" "2416" "-1" "2416" "-1" "c.2416-1G>A" "r.spl?" "p.?" "" "0001043413" "00025714" "30" "2571" "8" "2571" "8" "c.2571+8G>C" "r.(=)" "p.(=)" "" "0001043414" "00025714" "50" "2128" "0" "2128" "0" "c.2128G>A" "r.(?)" "p.(Gly710Arg)" "" "0001043415" "00025714" "30" "2116" "-9" "2116" "-9" "c.2116-9C>T" "r.(=)" "p.(=)" "" "0001043416" "00025714" "30" "1038" "-6" "1038" "-6" "c.1038-6G>A" "r.(=)" "p.(=)" "" "0001043417" "00025714" "50" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "" "0001043418" "00025714" "50" "116" "0" "116" "0" "c.116G>A" "r.(?)" "p.(Arg39His)" "" "0001056927" "00025714" "50" "973" "0" "973" "0" "c.973G>T" "r.(?)" "p.(Ala325Ser)" "" "0001056928" "00025714" "30" "642" "0" "642" "0" "c.642C>T" "r.(?)" "p.(Ala214=)" "" "0001056929" "00025714" "50" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Glu96Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005975" "0000413598" "0000871107" "0000413599" "0000871108" "0000413600" "0000871109" "0000451465" "0000985364" "0000451465" "0000985365" "0000452069" "0000986022" "0000452071" "0000986023" "0000452072" "0000986024" "0000452073" "0000986025" "0000452074" "0000986026" "0000452075" "0000986027" "0000452076" "0000986028"