### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP1A1) # 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}}" "ATP1A1" "ATPase, Na+/K+ transporting, alpha 1 polypeptide" "1" "p13" "unknown" "NG_047036.1" "UD_132319147703" "" "https://www.LOVD.nl/ATP1A1" "" "1" "799" "476" "182310" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ATP1A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-06-28 15:09:07" "00006" "2025-08-14 11:21:38" ## 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}}" "00025264" "ATP1A1" "transcript variant 1" "003" "NM_000701.7" "" "NP_000692.2" "" "" "" "-339" "3402" "3072" "116915795" "116947396" "00006" "2018-03-25 11:11:53" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05616" "CMT2DD" "Charcot-Marie-Tooth disease, axonal, type 2DD (CMT-2DD)" "AD" "618036" "" "autosomal dominant" "" "00006" "2019-06-28 15:10:07" "00006" "2021-12-10 21:51:32" "05617" "HOMGSMR2" "hypomagnesemia, seizures, and mental retardation type 2 (HOMGSMR-2)" "AD" "618314" "" "autosomal dominant" "" "00006" "2019-06-28 15:11:24" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ATP1A1" "05113" "ATP1A1" "05616" "ATP1A1" "05617" ## 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}}" "00155739" "" "" "" "13" "" "00006" "{PMID:Lassuthova 2018:29499166}" "4-generation family, 13 affecteds (5F, 8M)" "" "no" "Czech Republic" "" "0" "" "" "" "29499166-Fam1" "00155740" "" "" "" "15" "" "00006" "{PMID:Lassuthova 2018:29499166}" "5-generation family, 15 affecteds (9F, 6M)" "F;M" "" "Italy" "" "0" "" "" "" "29499166-Fam2" "00155741" "" "" "" "8" "" "00006" "{PMID:Lassuthova 2018:29499166}" "4-generation family, 8 affecteds (4F, 4M)" "F;M" "" "United States" "" "0" "" "" "" "29499166-Fam3" "00155742" "" "" "" "6" "" "00006" "{PMID:Lassuthova 2018:29499166}" "4-generation family, 6 affecteds (2F, 4M)" "F;M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "29499166-Fam4" "00155743" "" "" "" "5" "" "00006" "{PMID:Lassuthova 2018:29499166}" "3-generation family, 5 affecteds (2F, 3M)" "F;M" "" "Australia" "" "0" "" "" "" "29499166-Fam5" "00155744" "" "" "" "6" "" "00006" "{PMID:Lassuthova 2018:29499166}" "4-generation family, 6 affecteds (2F, 4M)" "F;M" "no" "Australia" "" "0" "" "" "" "29499166-Fam6" "00155745" "" "" "" "1" "" "00006" "{PMID:Lassuthova 2018:29499166}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "Korea" "" "0" "" "" "" "29499166-Fam7" "00225478" "" "" "" "1" "" "00006" "{PMID:Schlingmann 2018:30388404}, {DOI:Schlingmann 2018:10.1016/j.ajhg.2018.10.004}" "" "F" "" "" "" "0" "" "" "European" "30388404-Pat1" "00225479" "" "" "" "1" "" "00006" "{PMID:Schlingmann 2018:30388404}, {DOI:Schlingmann 2018:10.1016/j.ajhg.2018.10.004}" "" "F" "" "" "" "0" "" "" "European" "30388404Pat2" "00225480" "" "" "" "1" "" "00006" "{PMID:Schlingmann 2018:30388404}, {DOI:Schlingmann 2018:10.1016/j.ajhg.2018.10.004}" "" "M" "" "Canada" "" "0" "" "" "" "30388404-Pat3" "00324417" "" "" "" "1" "" "00006" "{PMID:Cao 2020:32820034}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "CFD6A" "00466285" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00155739" "00199" "00155740" "00199" "00155741" "00199" "00155742" "00199" "00155743" "00199" "00155744" "00199" "00155745" "00199" "00225478" "05521" "00225479" "05521" "00225480" "05521" "00324417" "00198" "00466285" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00199, 05113, 05521, 05611, 05616, 05617 ## Count = 12 "{{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}}" "0000128122" "00199" "00155739" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease, autosomal dominant" "" "0000128123" "00199" "00155740" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease, autosomal dominant" "" "0000128124" "00199" "00155741" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease, autosomal dominant" "" "0000128125" "00199" "00155742" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease, autosomal dominant" "" "0000128126" "00199" "00155743" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease, autosomal dominant" "" "0000128127" "00199" "00155744" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease, autosomal dominant" "" "0000128128" "00199" "00155745" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000170593" "05521" "00225478" "00006" "Isolated (sporadic)" "4y9m" "see paper; …, repeated status epilepticus, severe hypomagnesemia, renal magnesium wasting, global developmental delay, hyperactive behavior" "6m" "" "generalized seizures" "" "" "" "" "" "" "seizures" "" "0000170594" "05521" "00225479" "00006" "Isolated (sporadic)" "10y" "see paper; …, monthly seizures, severe hypomagnesemia, renal magnesium wasting, global developmental delay, suspected autism spectrum disorder" "2m" "" "generalized seizures" "" "" "" "" "" "" "seizures" "" "0000170595" "05521" "00225480" "00006" "Isolated (sporadic)" "6y" "see paper; …, frequent seizures, repeated status epilepticus, severe hypomagnesemia, renal magnesium wasting, global developmental delay, speech delay, severe autism, self-biting behavior" "6d" "" "generalized seizures" "" "" "" "" "" "" "seizures" "" "0000242959" "00198" "00324417" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cerebral folate deficiency syndrome" "" "0000351653" "05611" "00466285" "03544" "Isolated (sporadic)" "" "HP:0001256, HP:0012758, HP:0007018, HP:0002312" "" "" "" "" "" "" "" "" "ATP1A1-related disorder" "complex NDD" "" ## 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}}" "0000156604" "00155739" "1" "00006" "00006" "2018-03-25 11:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156605" "00155740" "1" "00006" "00006" "2018-03-25 11:19:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156606" "00155741" "1" "00006" "00006" "2018-03-25 11:23:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156607" "00155742" "1" "00006" "00006" "2018-03-25 11:26:06" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156608" "00155743" "1" "00006" "00006" "2018-03-25 11:30:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156609" "00155744" "1" "00006" "00006" "2018-03-25 11:33:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156610" "00155745" "1" "00006" "00006" "2018-03-25 11:36:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000226557" "00225478" "1" "00006" "00006" "2019-02-17 10:33:52" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000226558" "00225479" "1" "00006" "00006" "2019-02-17 10:33:52" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000226559" "00225480" "1" "00006" "00006" "2019-02-17 10:33:52" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000325607" "00324417" "1" "00006" "00006" "2020-12-11 19:31:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467941" "00466285" "1" "03544" "03544" "2025-08-13 14:23:41" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000156604" "ATP1A1" "0000156605" "ATP1A1" "0000156606" "ATP1A1" "0000156607" "ATP1A1" "0000156608" "ATP1A1" "0000156609" "ATP1A1" "0000156610" "ATP1A1" "0000226557" "ATP1A1" "0000226558" "ATP1A1" "0000226559" "ATP1A1" "0000325607" "ATP1A1" ## 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 = 57 "{{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}}" "0000359644" "1" "90" "1" "116927424" "116927424" "subst" "0" "00006" "ATP1A1_000001" "g.116927424T>G" "" "{PMID:Lassuthova 2018:29499166}" "" "" "" "Germline" "yes" "" "0" "" "" "g.116384802T>G" "" "pathogenic" "" "0000359645" "1" "90" "1" "116937869" "116937869" "subst" "0" "00006" "ATP1A1_000002" "g.116937869C>G" "" "{PMID:Lassuthova 2018:29499166}" "" "" "" "Germline" "yes" "" "0" "" "" "g.116395247C>G" "" "pathogenic" "" "0000359646" "1" "90" "1" "116937846" "116937846" "subst" "0" "00006" "ATP1A1_000003" "g.116937846T>C" "" "{PMID:Lassuthova 2018:29499166}" "" "" "" "Germline" "yes" "" "0" "" "" "g.116395224T>C" "" "pathogenic" "" "0000359647" "1" "90" "1" "116937869" "116937869" "subst" "0" "00006" "ATP1A1_000004" "g.116937869C>A" "" "{PMID:Lassuthova 2018:29499166}" "" "1798G>T" "" "Germline" "yes" "" "0" "" "" "g.116395247C>A" "" "pathogenic" "" "0000359648" "1" "90" "1" "116937860" "116937860" "subst" "0" "00006" "ATP1A1_000005" "g.116937860G>A" "" "{PMID:Lassuthova 2018:29499166}" "" "" "" "Germline" "yes" "" "0" "" "" "g.116395238G>A" "" "pathogenic" "" "0000359649" "1" "90" "1" "116937872" "116937873" "del" "0" "00006" "ATP1A1_000006" "g.116937872_116937873delinsTT" "" "{PMID:Lassuthova 2018:29499166}" "" "" "" "Germline" "yes" "" "0" "" "" "g.116395250_116395251delinsTT" "" "pathogenic" "" "0000359650" "0" "90" "1" "116941690" "116941690" "subst" "0" "00006" "ATP1A1_000007" "g.116941690A>C" "" "{PMID:Lassuthova 2018:29499166}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.116399068A>C" "" "pathogenic" "" "0000458876" "0" "90" "1" "116932211" "116932211" "subst" "0" "00006" "ATP1A1_000008" "g.116932211T>C" "" "{PMID:Schlingmann 2018:30388404}, {DOI:Schlingmann 2018:10.1016/j.ajhg.2018.10.004}" "" "" "" "De novo" "" "" "0" "" "" "g.116389589T>C" "" "pathogenic (dominant)" "" "0000458877" "0" "90" "1" "116932213" "116932213" "subst" "0" "00006" "ATP1A1_000009" "g.116932213G>C" "" "{PMID:Schlingmann 2018:30388404}, {DOI:Schlingmann 2018:10.1016/j.ajhg.2018.10.004}" "" "" "" "De novo" "" "" "0" "" "" "g.116389591G>C" "" "pathogenic (dominant)" "" "0000458878" "0" "90" "1" "116943486" "116943486" "subst" "0" "00006" "ATP1A1_000010" "g.116943486T>G" "" "{PMID:Schlingmann 2018:30388404}, {DOI:Schlingmann 2018:10.1016/j.ajhg.2018.10.004}" "" "" "" "De novo" "" "" "0" "" "" "g.116400864T>G" "" "pathogenic (dominant)" "" "0000502635" "0" "10" "1" "116931507" "116931507" "subst" "0.0444108" "02330" "ATP1A1_000012" "g.116931507C>T" "" "" "" "ATP1A1(NM_001160233.2):c.637-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116388885C>T" "" "benign" "" "0000502636" "0" "10" "1" "116931628" "116931628" "subst" "0.0460107" "02330" "ATP1A1_000013" "g.116931628C>A" "" "" "" "ATP1A1(NM_001160233.2):c.741C>A (p.T247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116389006C>A" "" "benign" "" "0000502637" "0" "10" "1" "116932921" "116932921" "subst" "0.0350191" "02330" "ATP1A1_000014" "g.116932921G>A" "" "" "" "ATP1A1(NM_001160233.2):c.1110G>A (p.T370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116390299G>A" "" "benign" "" "0000502638" "0" "10" "1" "116936194" "116936194" "subst" "0.000195177" "02330" "ATP1A1_000015" "g.116936194C>T" "" "" "" "ATP1A1(NM_001160233.2):c.1509C>T (p.H503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116393572C>T" "" "benign" "" "0000502639" "0" "10" "1" "116937809" "116937809" "subst" "0.0219165" "02330" "ATP1A1_000016" "g.116937809A>G" "" "" "" "ATP1A1(NM_001160233.2):c.1738A>G (p.I580V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116395187A>G" "" "benign" "" "0000502640" "0" "30" "1" "116942134" "116942134" "subst" "0.000418788" "02330" "ATP1A1_000017" "g.116942134G>A" "" "" "" "ATP1A1(NM_001160233.2):c.2541G>A (p.E847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116399512G>A" "" "likely benign" "" "0000502641" "0" "10" "1" "116946605" "116946605" "subst" "0.0373036" "02330" "ATP1A1_000018" "g.116946605T>C" "" "" "" "ATP1A1(NM_001160233.2):c.3043+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116403983T>C" "" "benign" "" "0000604696" "0" "50" "1" "116936222" "116936222" "subst" "0" "02330" "ATP1A1_000020" "g.116936222A>G" "" "" "" "ATP1A1(NM_001160233.2):c.1537A>G (p.R513G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116393600A>G" "" "VUS" "" "0000620360" "0" "10" "1" "116933052" "116933052" "subst" "0.000842992" "02330" "ATP1A1_000019" "g.116933052C>T" "" "" "" "ATP1A1(NM_001160233.2):c.1222+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116390430C>T" "" "benign" "" "0000620361" "0" "50" "1" "116936330" "116936330" "subst" "0" "02330" "ATP1A1_000021" "g.116936330G>A" "" "" "" "ATP1A1(NM_001160233.2):c.1645G>A (p.G549R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116393708G>A" "" "VUS" "" "0000620362" "0" "10" "1" "116947051" "116947051" "subst" "0.0269632" "02330" "ATP1A1_000022" "g.116947051G>A" "" "" "" "ATP1A1(NM_001160233.2):c.3057G>A (p.K1019=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116404429G>A" "" "benign" "" "0000620363" "0" "10" "1" "116947084" "116947084" "subst" "0.00396043" "02330" "ATP1A1_000023" "g.116947084C>T" "" "" "" "ATP1A1(NM_001160233.2):c.*18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116404462C>T" "" "benign" "" "0000653602" "0" "10" "1" "116927468" "116927468" "subst" "0.00303715" "02330" "ATP1A1_000024" "g.116927468T>C" "" "" "" "ATP1A1(NM_001160233.1):c.183+4T>C, ATP1A1(NM_001160233.2):c.183+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116384846T>C" "" "benign" "" "0000653603" "0" "50" "1" "116943843" "116943843" "subst" "0" "02325" "ATP1A1_000025" "g.116943843G>A" "" "" "" "ATP1A1(NM_001160233.2):c.2810G>A (p.C937Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116401221G>A" "" "VUS" "" "0000675418" "0" "70" "1" "116931561" "116931561" "subst" "0" "01943" "ATP1A1_000026" "g.116931561A>G" "" "" "" "ATP1A1(NM_001160233.1):c.674A>G (p.Q225R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000675419" "0" "50" "1" "116932282" "116932282" "subst" "4.06537E-6" "02327" "ATP1A1_000027" "g.116932282G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000708730" "0" "10" "1" "116936264" "116936264" "subst" "1.62541E-5" "00006" "ATP1A1_000028" "g.116936264G>A" "" "{PMID:Cao 2020:32820034}" "" "G1579A" "" "De novo" "" "" "0" "" "" "" "" "benign" "" "0000716713" "0" "30" "1" "116936263" "116936263" "subst" "4.06355E-5" "02330" "ATP1A1_000029" "g.116936263G>A" "" "" "" "ATP1A1(NM_001160233.2):c.1578G>A (p.K526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716714" "0" "30" "1" "116936329" "116936329" "subst" "0.000252447" "02330" "ATP1A1_000030" "g.116936329C>T" "" "" "" "ATP1A1(NM_001160233.1):c.1644C>T (p.L548=), ATP1A1(NM_001160233.2):c.1644C>T (p.L548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716715" "0" "30" "1" "116941613" "116941613" "subst" "0.000463343" "02330" "ATP1A1_000031" "g.116941613C>T" "" "" "" "ATP1A1(NM_001160233.1):c.2355C>T (p.P785=), ATP1A1(NM_001160233.2):c.2355C>T (p.P785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798695" "0" "50" "1" "116926650" "116926650" "subst" "0" "02330" "ATP1A1_000032" "g.116926650G>C" "" "" "" "ATP1A1(NM_001160233.2):c.27G>C (p.K9N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798696" "0" "30" "1" "116943862" "116943862" "subst" "5.70093E-5" "02326" "ATP1A1_000033" "g.116943862G>A" "" "" "" "ATP1A1(NM_001160233.1):c.2829G>A (p.S943=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848250" "0" "10" "1" "116926662" "116926662" "subst" "0.00132823" "02330" "ATP1A1_000034" "g.116926662A>G" "" "" "" "ATP1A1(NM_001160233.1):c.39A>G (p.A13=), ATP1A1(NM_001160233.2):c.39A>G (p.A13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856894" "0" "30" "1" "116932963" "116932963" "subst" "1.21861E-5" "02330" "ATP1A1_000035" "g.116932963C>T" "" "" "" "ATP1A1(NM_001160233.2):c.1152C>T (p.N384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882705" "0" "50" "1" "116926702" "116926702" "subst" "8.1242E-6" "02325" "ATP1A1_000036" "g.116926702A>C" "" "" "" "ATP1A1(NM_000701.8):c.79A>C (p.K27Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882706" "0" "70" "1" "116927424" "116927424" "subst" "0" "02330" "ATP1A1_000001" "g.116927424T>G" "" "" "" "ATP1A1(NM_001160233.2):c.143T>G (p.L48R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000882707" "0" "50" "1" "116936234" "116936234" "subst" "1.6251E-5" "02330" "ATP1A1_000037" "g.116936234C>T" "" "" "" "ATP1A1(NM_001160233.2):c.1549C>T (p.R517C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882708" "0" "30" "1" "116941613" "116941613" "subst" "0.000463343" "02326" "ATP1A1_000031" "g.116941613C>T" "" "" "" "ATP1A1(NM_001160233.1):c.2355C>T (p.P785=), ATP1A1(NM_001160233.2):c.2355C>T (p.P785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882709" "0" "30" "1" "116943647" "116943647" "subst" "0" "02330" "ATP1A1_000038" "g.116943647C>G" "" "" "" "ATP1A1(NM_000701.8):c.2718+19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910752" "0" "30" "1" "116926662" "116926662" "subst" "0.00132823" "02326" "ATP1A1_000034" "g.116926662A>G" "" "" "" "ATP1A1(NM_001160233.1):c.39A>G (p.A13=), ATP1A1(NM_001160233.2):c.39A>G (p.A13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910753" "0" "30" "1" "116943616" "116943616" "subst" "0.00103635" "02326" "ATP1A1_000040" "g.116943616C>T" "" "" "" "ATP1A1(NM_001160233.1):c.2706C>T (p.Y902=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922923" "0" "30" "1" "116932345" "116932345" "subst" "1.63135E-5" "02330" "ATP1A1_000041" "g.116932345T>C" "" "" "" "ATP1A1(NM_001160233.2):c.1023+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927986" "0" "50" "1" "116931378" "116931378" "subst" "0" "02330" "ATP1A1_000042" "g.116931378C>A" "" "" "" "ATP1A1(NM_001160233.2):c.620C>A (p.S207Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927987" "0" "30" "1" "116943565" "116943565" "subst" "0" "02330" "ATP1A1_000043" "g.116943565C>G" "" "" "" "ATP1A1(NM_001160233.2):c.2655C>G (p.G885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946940" "0" "30" "1" "116927468" "116927468" "subst" "0.00303715" "02326" "ATP1A1_000024" "g.116927468T>C" "" "" "" "ATP1A1(NM_001160233.1):c.183+4T>C, ATP1A1(NM_001160233.2):c.183+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960398" "0" "30" "1" "116936329" "116936329" "subst" "0.000252447" "02326" "ATP1A1_000030" "g.116936329C>T" "" "" "" "ATP1A1(NM_001160233.1):c.1644C>T (p.L548=), ATP1A1(NM_001160233.2):c.1644C>T (p.L548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990146" "0" "30" "1" "116926636" "116926636" "subst" "2.03236E-5" "01804" "ATP1A1_000044" "g.116926636G>T" "" "" "" "ATP1A1(NM_000701.7):c.13G>T (p.(Val5Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990147" "0" "50" "1" "116937762" "116937762" "subst" "1.62693E-5" "01804" "ATP1A1_000045" "g.116937762A>G" "" "" "" "ATP1A1(NM_000701.7):c.1691A>G (p.(Gln564Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990148" "0" "30" "1" "116942148" "116942148" "subst" "0" "01804" "ATP1A1_000046" "g.116942148T>C" "" "" "" "ATP1A1(NM_000701.7):c.2555T>C (p.(Met852Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990149" "0" "50" "1" "116947036" "116947036" "subst" "0" "01804" "ATP1A1_000047" "g.116947036A>C" "" "" "" "ATP1A1(NM_000701.7):c.3044-2A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013200" "0" "30" "1" "116936212" "116936212" "subst" "6.09707E-5" "02326" "ATP1A1_000048" "g.116936212C>T" "" "" "" "ATP1A1(NM_001160233.1):c.1527C>T (p.G509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016407" "0" "50" "1" "116946599" "116946599" "subst" "0" "03779" "ATP1A1_000049" "g.116946599T>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001031091" "0" "10" "1" "116932339" "116932339" "dup" "0" "02330" "ATP1A1_000050" "g.116932339dup" "" "" "" "ATP1A1(NM_001160233.2):c.1023+10dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031092" "0" "30" "1" "116936341" "116936341" "subst" "1.6346E-5" "02326" "ATP1A1_000051" "g.116936341C>T" "" "" "" "ATP1A1(NM_001160233.1):c.1656C>T (p.V552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031093" "0" "30" "1" "116944189" "116944189" "subst" "1.62505E-5" "01804" "ATP1A1_000052" "g.116944189A>G" "" "" "" "ATP1A1(NM_000701.8):c.2863A>G (p.(Ile955Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045588" "0" "30" "1" "116937920" "116937920" "subst" "1.63653E-5" "02326" "ATP1A1_000053" "g.116937920C>T" "" "" "" "ATP1A1(NM_001160233.1):c.1836+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047357" "0" "70" "1" "116943830" "116943830" "subst" "0" "03544" "ATP1A1_000054" "g.116943830G>A" "" "" "" "" "" "De novo" "-" "rs2101066493" "0" "" "" "g.116401208G>A" "{CV:1311442}" "likely pathogenic" "ACMG" ## 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 ATP1A1 ## Count = 57 "{{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}}" "0000359644" "00025264" "90" "143" "0" "143" "0" "c.143T>G" "r.(?)" "p.(Leu48Arg)" "3" "0000359645" "00025264" "90" "1798" "0" "1798" "0" "c.1798C>G" "r.(?)" "p.(Pro600Ala)" "13" "0000359646" "00025264" "90" "1775" "0" "1775" "0" "c.1775T>C" "r.(?)" "p.(Ile592Thr)" "13" "0000359647" "00025264" "90" "1798" "0" "1798" "0" "c.1798C>A" "r.(?)" "p.(Pro600Thr)" "13" "0000359648" "00025264" "90" "1789" "0" "1789" "0" "c.1789G>A" "r.(?)" "p.(Ala597Thr)" "13" "0000359649" "00025264" "90" "1801" "0" "1802" "0" "c.1801_1802delinsTT" "r.(?)" "p.(Asp601Phe)" "13" "0000359650" "00025264" "90" "2432" "0" "2432" "0" "c.2432A>C" "r.(?)" "p.(Asp811Ala)" "17" "0000458876" "00025264" "90" "905" "0" "905" "0" "c.905T>C" "r.(?)" "p.(Leu302Pro)" "" "0000458877" "00025264" "90" "907" "0" "907" "0" "c.907G>C" "r.(?)" "p.(Gly303Arg)" "" "0000458878" "00025264" "90" "2576" "0" "2576" "0" "c.2576T>G" "r.(?)" "p.(Met859Arg)" "" "0000502635" "00025264" "10" "637" "-17" "637" "-17" "c.637-17C>T" "r.(=)" "p.(=)" "" "0000502636" "00025264" "10" "741" "0" "741" "0" "c.741C>A" "r.(?)" "p.(Thr247=)" "" "0000502637" "00025264" "10" "1110" "0" "1110" "0" "c.1110G>A" "r.(?)" "p.(Thr370=)" "" "0000502638" "00025264" "10" "1509" "0" "1509" "0" "c.1509C>T" "r.(?)" "p.(His503=)" "" "0000502639" "00025264" "10" "1738" "0" "1738" "0" "c.1738A>G" "r.(?)" "p.(Ile580Val)" "" "0000502640" "00025264" "30" "2541" "0" "2541" "0" "c.2541G>A" "r.(?)" "p.(Glu847=)" "" "0000502641" "00025264" "10" "3043" "8" "3043" "8" "c.3043+8T>C" "r.(=)" "p.(=)" "" "0000604696" "00025264" "50" "1537" "0" "1537" "0" "c.1537A>G" "r.(?)" "p.(Arg513Gly)" "" "0000620360" "00025264" "10" "1222" "19" "1222" "19" "c.1222+19C>T" "r.(=)" "p.(=)" "" "0000620361" "00025264" "50" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Gly549Arg)" "" "0000620362" "00025264" "10" "3057" "0" "3057" "0" "c.3057G>A" "r.(?)" "p.(Lys1019=)" "" "0000620363" "00025264" "10" "3090" "0" "3090" "0" "c.*18C>T" "r.(=)" "p.(=)" "" "0000653602" "00025264" "10" "183" "4" "183" "4" "c.183+4T>C" "r.spl?" "p.?" "" "0000653603" "00025264" "50" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Cys937Tyr)" "" "0000675418" "00025264" "70" "674" "0" "674" "0" "c.674A>G" "r.(?)" "p.(Gln225Arg)" "" "0000675419" "00025264" "50" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Gly326Ser)" "" "0000708730" "00025264" "10" "1579" "0" "1579" "0" "c.1579G>A" "r.(?)" "p.(Glu527Lys)" "" "0000716713" "00025264" "30" "1578" "0" "1578" "0" "c.1578G>A" "r.(?)" "p.(Lys526=)" "" "0000716714" "00025264" "30" "1644" "0" "1644" "0" "c.1644C>T" "r.(?)" "p.(Leu548=)" "" "0000716715" "00025264" "30" "2355" "0" "2355" "0" "c.2355C>T" "r.(?)" "p.(Pro785=)" "" "0000798695" "00025264" "50" "27" "0" "27" "0" "c.27G>C" "r.(?)" "p.(Lys9Asn)" "" "0000798696" "00025264" "30" "2829" "0" "2829" "0" "c.2829G>A" "r.(?)" "p.(Ser943=)" "" "0000848250" "00025264" "10" "39" "0" "39" "0" "c.39A>G" "r.(?)" "p.(Ala13=)" "" "0000856894" "00025264" "30" "1152" "0" "1152" "0" "c.1152C>T" "r.(?)" "p.(Asn384=)" "" "0000882705" "00025264" "50" "79" "0" "79" "0" "c.79A>C" "r.(?)" "p.(Lys27Gln)" "" "0000882706" "00025264" "70" "143" "0" "143" "0" "c.143T>G" "r.(?)" "p.(Leu48Arg)" "" "0000882707" "00025264" "50" "1549" "0" "1549" "0" "c.1549C>T" "r.(?)" "p.(Arg517Cys)" "" "0000882708" "00025264" "30" "2355" "0" "2355" "0" "c.2355C>T" "r.(?)" "p.(Pro785=)" "" "0000882709" "00025264" "30" "2718" "19" "2718" "19" "c.2718+19C>G" "r.(=)" "p.(=)" "" "0000910752" "00025264" "30" "39" "0" "39" "0" "c.39A>G" "r.(?)" "p.(Ala13=)" "" "0000910753" "00025264" "30" "2706" "0" "2706" "0" "c.2706C>T" "r.(?)" "p.(Tyr902=)" "" "0000922923" "00025264" "30" "1023" "16" "1023" "16" "c.1023+16T>C" "r.(=)" "p.(=)" "" "0000927986" "00025264" "50" "620" "0" "620" "0" "c.620C>A" "r.(?)" "p.(Ser207Tyr)" "" "0000927987" "00025264" "30" "2655" "0" "2655" "0" "c.2655C>G" "r.(?)" "p.(=)" "" "0000946940" "00025264" "30" "183" "4" "183" "4" "c.183+4T>C" "r.spl?" "p.?" "" "0000960398" "00025264" "30" "1644" "0" "1644" "0" "c.1644C>T" "r.(?)" "p.(Leu548=)" "" "0000990146" "00025264" "30" "13" "0" "13" "0" "c.13G>T" "r.(?)" "p.(Val5Phe)" "" "0000990147" "00025264" "50" "1691" "0" "1691" "0" "c.1691A>G" "r.(?)" "p.(Gln564Arg)" "" "0000990148" "00025264" "30" "2555" "0" "2555" "0" "c.2555T>C" "r.(?)" "p.(Met852Thr)" "" "0000990149" "00025264" "50" "3044" "-2" "3044" "-2" "c.3044-2A>C" "r.spl?" "p.?" "" "0001013200" "00025264" "30" "1527" "0" "1527" "0" "c.1527C>T" "r.(?)" "p.(=)" "" "0001016407" "00025264" "50" "3043" "2" "3043" "2" "c.3043+2T>C" "r.(?)" "p.(?)" "" "0001031091" "00025264" "10" "1023" "10" "1023" "10" "c.1023+10dup" "r.(=)" "p.(=)" "" "0001031092" "00025264" "30" "1656" "0" "1656" "0" "c.1656C>T" "r.(?)" "p.(=)" "" "0001031093" "00025264" "30" "2863" "0" "2863" "0" "c.2863A>G" "r.(?)" "p.(Ile955Val)" "" "0001045588" "00025264" "30" "1836" "13" "1836" "13" "c.1836+13C>T" "r.(=)" "p.(=)" "" "0001047357" "00025264" "70" "2797" "0" "2797" "0" "c.2797G>A" "r.(?)" "p.(Asp933Asn)" "20" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000156604" "0000359644" "0000156605" "0000359645" "0000156606" "0000359646" "0000156607" "0000359647" "0000156608" "0000359648" "0000156609" "0000359649" "0000156610" "0000359650" "0000226557" "0000458876" "0000226558" "0000458877" "0000226559" "0000458878" "0000325607" "0000708730" "0000467941" "0001047357"