### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP2B1) # 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}}" "ATP2B1" "ATPase, Ca++ transporting, plasma membrane 1" "12" "q21.33" "unknown" "NC_000012.11" "UD_132118780333" "" "https://www.LOVD.nl/ATP2B1" "" "1" "814" "490" "108731" "1" "1" "1" "1" "change to MANE NM_001366521.1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-08-29 19:36:42" "00006" "2025-12-06 14:03:35" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00003069" "ATP2B1" "transcript variant 2" "001" "NM_001682.2" "" "NP_001673.2" "" "" "" "-181" "6598" "3663" "90049844" "89981826" "" "0000-00-00 00:00:00" "" "" "00026007" "ATP2B1" "transcript variant 4 (removed from reference sequence)" "000" "NM_001366521.1" "" "NP_001353450.1" "" "" "MANE select" "-464" "6598" "3663" "1" "1" "00006" "2025-08-29 19:37:11" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "05533" "MR;ID" "mental retardation (MR, intellectual disability (ID))" "" "" "" "" "" "00006" "2018-12-18 09:22:07" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07173" "MRD66" "intellectual developmental disorder, autosomal dominant, type 66" "AD" "619910" "" "" "" "00006" "2025-08-29 19:38:30" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ATP2B1" "00139" "ATP2B1" "07173" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00408483" "" "" "" "1" "" "00006" "{PMID:Rahimi 2025:41223852}, {PMID:Rahimi 2022:35358416}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Italy" "" "0" "" "" "" "Pat1" "00408484" "" "" "" "1" "" "00006" "{PMID:Rahimi 2022:35358416}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Pat2" "00408485" "" "" "" "1" "" "00006" "{PMID:Rahimi 2022:35358416}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Germany" "" "0" "" "" "" "Pat3" "00408486" "" "" "" "1" "" "00006" "{PMID:Rahimi 2022:35358416}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Germany" "" "0" "" "" "" "Pat4" "00408487" "" "" "" "1" "" "00006" "{PMID:Rahimi 2022:35358416}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Pat5" "00408488" "" "" "" "1" "" "00006" "{PMID:Rahimi 2022:35358416}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00408489" "" "" "" "1" "" "00006" "{PMID:Rahimi 2022:35358416}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "Pat7" "00408490" "" "" "" "1" "" "00006" "{PMID:Rahimi 2022:35358416}, {PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "France" "" "0" "" "" "Morocco" "Pat8;Fam3PatII2" "00408491" "" "" "" "1" "" "00006" "{PMID:Rahimi 2022:35358416}" "2-generation family, 1 affected, unaffected parents" "M" "" "Israel" "" "0" "" "" "" "Pat9" "00408492" "" "" "" "1" "" "00006" "{PMID:Rahimi 2022:35358416}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Pat10" "00408493" "" "" "" "1" "" "00006" "{PMID:Rahimi 2022:35358416}" "2-generation family, 1 affected, unaffected parents" "F" "" "Germany" "" "0" "" "" "" "Pat11" "00408494" "" "" "" "1" "" "00006" "{PMID:Rahimi 2022:35358416}" "2-generation family, 1 affected, unaffected parents" "M" "" "United States" "" "0" "" "" "" "Pat12" "00408495" "" "" "" "1" "" "00006" "{PMID:Kaplanis 2020:33057194}" "" "" "" "" "" "0" "" "" "" "DDD13k.04028" "00408496" "" "" "" "1" "" "00006" "{PMID:Kaplanis 2020:33057194}" "" "" "" "" "" "0" "" "" "" "DDD13k.05076" "00408497" "" "" "" "1" "" "00006" "{PMID:Kaplanis 2020:33057194}" "" "" "" "" "" "0" "" "" "" "DDD13k.08944" "00408498" "" "" "" "1" "" "00006" "{PMID:Rahimi 2022:35358416}" "" "M" "" "United States" "" "0" "" "" "Europe-W" "Pat16" "00459435" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00466404" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "342568" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00408483" "05611" "00408484" "05611" "00408485" "05611" "00408486" "05611" "00408487" "05611" "00408488" "05611" "00408489" "05611" "00408490" "05611" "00408491" "05611" "00408492" "05611" "00408493" "05611" "00408494" "05611" "00408495" "05611" "00408496" "05611" "00408497" "05611" "00408498" "05611" "00459435" "05611" "00466404" "05533" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05533, 05611, 07173 ## Count = 18 "{{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}}" "0000300600" "05611" "00408483" "00006" "Isolated (sporadic)" "06y" "see paper; ..., development delay; moderate intellectual disability; normal behavior; seizures; secundum atrial septal defect, toe clindactyly, facial dysmorphism, hypotonia" "" "" "" "" "" "" "" "MRD66" "neurodevelopmental delay" "0000300601" "05611" "00408484" "00006" "Isolated (sporadic)" "08y" "see paper; ..., development delay; mild intellectual disability; autism spectrum disorder; no seizures; transposition of large vessels, low set ears" "" "" "" "" "" "" "" "MRD66" "neurodevelopmental delay" "0000300602" "05611" "00408485" "00006" "Isolated (sporadic)" "09y" "see paper; ..., development delay; mild intellectual disability; EEG pathological; cerebral cavernous malformation, sparse hair" "" "" "" "" "" "" "" "MRD66" "neurodevelopmental delay" "0000300603" "05611" "00408486" "00006" "Isolated (sporadic)" "17y" "see paper; ..., development delay; mild intellectual disability; autism spectrum disorder; seizures; marfanoid habitus, arachnodactyly, scoliosis, hypermobile thumb" "" "" "" "" "" "" "" "MRD66" "neurodevelopmental delay" "0000300604" "05611" "00408487" "00006" "Isolated (sporadic)" "21y" "see paper; ..., development delay; mild intellectual disability; autism spectrum disorder; no seizures; facial dysmorphism" "" "" "" "" "" "" "" "MRD66" "neurodevelopmental delay" "0000300605" "05611" "00408488" "00006" "Isolated (sporadic)" "03y" "see paper; ..., development delay; intellectual disability; sleeping difficulties; seizures; facial dysmorphism, hypotonia" "" "" "" "" "" "" "" "MRD66" "neurodevelopmental delay" "0000300606" "05611" "00408489" "00006" "Isolated (sporadic)" "22y" "see paper; ..., development delay; moderate intellectual disability; compulsive behavior; seizures" "" "" "" "" "" "" "" "MRD66" "neurodevelopmental delay" "0000300607" "05611" "00408490" "00006" "Isolated (sporadic)" "03y" "see paper; ..., no prenatal issues, birth 39w, SVD, weight 3100 g (18%), height 47 cm (6%), OFC 33 cm (5%); 12m-sit; >26m-walk; 26m-single words; global developmental delay; no hypotelorism, no hypertelorism; no strabismus; no ptosis; no prominent philtrum; no thin upper lip; no tented mouth; everted lower lip; no micro-/retro-/pro-gnathia; no open mouth; 1st fingers shortening, hypertrichosis, premature thelarche, low hairline, bilateral epicanthus, long eyelashes, bulbous nose, hat-shaped mouth, ogival palate, short neck, low implanted thumbs, deep palmar crease, clinodactyly of 5th fingers, overlapping of the toes, hirsutism on the back, limbs, and toes; intellectual disability; hypotonia; hepatomegaly; no liver dysfunction; intractable itching (pruritus); feeding difficulty; MRI brain normal; ultrasound liver dysmorphic hepatomegaly with increased elasticity measurements (mean velocity 1.3m/s), hepatic hilar lymph nodes swelling, with slight effusion recto-uterine pouch" "" "" "" "" "" "" "" "MRD66" "neurodevelopmental delay" "0000300608" "05611" "00408491" "00006" "Unknown" "51y" "see paper; ..., development delay; mild intellectual disability; autism spectrum disorder; no seizures; marfanoid habitus, aortic root dilation, pectus carinatum, scoliosis, arachnodactyly, facial dysmorphism" "" "" "" "" "" "" "" "MRD66" "neurodevelopmental delay" "0000300609" "05611" "00408492" "00006" "Isolated (sporadic)" "06y" "see paper; ..., development delay; mild intellectual disability; hyperactivity; no seizures; facial dysmorphism" "" "" "" "" "" "" "" "MRD66" "neurodevelopmental delay" "0000300610" "05611" "00408493" "00006" "Unknown" "06y" "see paper; ..., development delay; moderate intellectual disability; no seizures; short stature" "" "" "" "" "" "" "" "MRD66" "neurodevelopmental delay" "0000300611" "05611" "00408494" "00006" "Unknown" "05y" "see paper; ..., development delay; intellectual disability; autism spectrum disorder; infantile spasms; short stature, pectus excavatum, plagiocephaly" "" "" "" "" "" "" "" "MRD66" "neurodevelopmental delay" "0000300612" "05611" "00408495" "00006" "Isolated (sporadic)" "" "abnormality of blood and blood-forming tissues (HP:0001871), abnormality of head or neck (HP:0000152), abnormality of limbs (HP:0040064), abnormality of the eye (HP:0000478), abnormality of the genitourinary system (HP:0000119), abnormality of the integument (HP:0001574), abnormality of the nervous system (HP:0000707), abnormality of the skeletal system (HP:0000924)" "" "" "" "" "" "" "" "" "" "0000300613" "05611" "00408496" "00006" "Isolated (sporadic)" "" "abnormality of head or neck (HP:0000152), abnormality of the nervous system (HP:0000707), abnormality of the skeletal system (HP:0000924), abnormality of the voice (HP:0001608)" "" "" "" "" "" "" "" "" "" "0000300614" "05611" "00408497" "00006" "Isolated (sporadic)" "" "neurodevelopmental delay" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000300615" "05611" "00408498" "00006" "Unknown" "05y" "see paper; ..., speech delay, 36m first words; motor developmental delay; 24m-walking; autism/autism-like behavior; sleep apnea; seizures, generalized epilepsy, generalized tonic seizures with etiology unknown, 4m-first seizure, monitoring with EEGs, hx of Keppra; MRI cranial increased extra-axial fluid, 2y later MRI interpreted as normal; overlapping toes, cleft lip and palate, poor intestinal motility; triangular facies, normal hair, symmetric, large skull, slight ptosis, normal lashes, inferior inner epicanthal folds, downslanting palpebral fissures, prominent forehead, macrocephaly" "" "" "" "" "" "" "" "MRD66" "neurodevelopmental delay" "0000347511" "05611" "00459435" "03544" "Isolated (sporadic)" "" "HP:0002342, HP:0000717, HP:0002376" "" "" "" "" "" "" "" "MRD66" "complex neurodevelopmental disorder" "0000351786" "05533" "00466404" "01164" "Isolated (sporadic)" "07y" "Delayed speech and language development, Neurodevelopmental delay, Atypical behavior, Preauricular skin tag, Restlessness, Short attention span, Sensory seeking" "" "" "" "" "" "" "" "MRD66" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000409742" "00408483" "1" "00006" "00006" "2022-04-21 21:44:36" "" "" "SEQ-NG" "DNA" "" "" "0000409743" "00408484" "1" "00006" "00006" "2022-04-21 21:44:36" "" "" "SEQ-NG" "DNA" "" "" "0000409744" "00408485" "1" "00006" "00006" "2022-04-21 21:44:36" "" "" "SEQ-NG" "DNA" "" "" "0000409745" "00408486" "1" "00006" "00006" "2022-04-21 21:44:36" "" "" "SEQ-NG" "DNA" "" "" "0000409746" "00408487" "1" "00006" "00006" "2022-04-21 21:44:36" "" "" "SEQ-NG" "DNA" "" "" "0000409747" "00408488" "1" "00006" "00006" "2022-04-21 21:44:36" "" "" "SEQ-NG" "DNA" "" "" "0000409748" "00408489" "1" "00006" "00006" "2022-04-21 21:44:36" "" "" "SEQ-NG" "DNA" "" "" "0000409749" "00408490" "1" "00006" "00006" "2022-04-21 21:44:36" "" "" "SEQ-NG" "DNA" "" "" "0000409750" "00408491" "1" "00006" "00006" "2022-04-21 21:44:36" "" "" "SEQ-NG" "DNA" "" "" "0000409751" "00408492" "1" "00006" "00006" "2022-04-21 21:44:36" "" "" "SEQ-NG" "DNA" "" "" "0000409752" "00408493" "1" "00006" "00006" "2022-04-21 21:44:36" "" "" "SEQ-NG" "DNA" "" "" "0000409753" "00408494" "1" "00006" "00006" "2022-04-21 21:44:36" "" "" "SEQ-NG" "DNA" "" "" "0000409754" "00408495" "1" "00006" "00006" "2022-04-21 21:56:43" "" "" "SEQ-NG" "DNA" "" "" "0000409755" "00408496" "1" "00006" "00006" "2022-04-21 22:03:02" "" "" "SEQ-NG" "DNA" "" "" "0000409756" "00408497" "1" "00006" "00006" "2022-04-21 22:06:49" "" "" "SEQ-NG" "DNA" "" "" "0000409757" "00408498" "1" "00006" "00006" "2022-04-21 22:17:09" "" "" "SEQ-NG" "DNA" "" "" "0000461060" "00459435" "1" "03544" "03544" "2024-12-30 07:55:18" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000468067" "00466404" "1" "01164" "01164" "2025-08-27 12:59:46" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000409756" "ATP2B1" "0000468067" "ATP2B1" ## 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 = 38 "{{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}}" "0000345566" "0" "50" "12" "89998096" "89998096" "subst" "0" "02327" "ATP2B1_000002" "g.89998096C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89604319C>T" "" "VUS" "" "0000614428" "0" "50" "12" "90005004" "90005004" "subst" "0" "01804" "ATP2B1_000003" "g.90005004T>A" "" "" "" "ATP2B1(NM_001682.2):c.2213A>T (p.(Asp738Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89611227T>A" "" "VUS" "" "0000724297" "0" "90" "12" "90004245" "90004245" "subst" "0" "02327" "ATP2B1_000004" "g.90004245C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000846953" "0" "70" "12" "90028626" "90028626" "subst" "0" "00006" "ATP2B1_000016" "g.90028626T>A" "" "{PMID:Rahimi 2025:41223852}, {PMID:Rahimi 2022:35358416}" "" "" "ACMG PS2_MOD, PS3_SUP, PM1_MOD, PM2_SUP, PP2, PP3; variant originally reported ad c.716A>G" "De novo" "" "" "0" "" "" "g.89634849T>A" "" "likely pathogenic (dominant)" "ACMG" "0000846954" "0" "70" "12" "90024419" "90024419" "subst" "0" "00006" "ATP2B1_000001" "g.90024419G>A" "" "{PMID:Rahimi 2022:35358416}" "" "" "ACMG PS2_MOD, PS3_SUP, PM1_MOD, PM2_SUP, PP2, PP3" "De novo" "" "" "0" "" "" "g.89630642G>A" "" "likely pathogenic (dominant)" "ACMG" "0000846955" "0" "70" "12" "90018030" "90018030" "subst" "0" "00006" "ATP2B1_000015" "g.90018030G>T" "" "{PMID:Rahimi 2022:35358416}" "" "" "ACMG PS2_MOD, PS3_SUP, PM1_MOD, PM2_SUP, PP2, PP3" "De novo" "" "" "0" "" "" "g.89624253G>T" "" "likely pathogenic (dominant)" "ACMG" "0000846956" "0" "70" "12" "90015537" "90015537" "subst" "0" "00006" "ATP2B1_000014" "g.90015537T>C" "" "{PMID:Rahimi 2022:35358416}" "" "" "ACMG PS2_MOD, PS3_SUP, PM1_MOD, PM2_SUP, PP2, PP3" "De novo" "" "" "0" "" "" "g.89621760T>C" "" "likely pathogenic (dominant)" "ACMG" "0000846957" "0" "70" "12" "90004245" "90004245" "subst" "0" "00006" "ATP2B1_000004" "g.90004245C>G" "" "{PMID:Rahimi 2022:35358416}" "" "" "ACMG PS2_MOD, PS3_SUP, PM1_MOD, PM2_SUP, PP2, PP3" "De novo" "" "" "0" "" "" "g.89610468C>G" "" "likely pathogenic (dominant)" "ACMG" "0000846958" "0" "70" "12" "90003791" "90003791" "subst" "4.07E-6" "00006" "ATP2B1_000012" "g.90003791G>A" "" "{PMID:Rahimi 2022:35358416}" "" "" "ACMG PS2_MOD, PS3_SUP, PM1_MOD, PP2, PP3" "De novo" "" "" "0" "" "" "g.89610014G>A" "" "likely pathogenic (dominant)" "ACMG" "0000846959" "0" "70" "12" "89998096" "89998096" "subst" "0" "00006" "ATP2B1_000002" "g.89998096C>T" "" "{PMID:Rahimi 2022:35358416}" "" "" "ACMG PS2_MOD, PS3_SUP, PM2_SUP, PP2, PP3" "De novo" "" "" "0" "" "" "g.89604319C>T" "" "likely pathogenic (dominant)" "ACMG" "0000846960" "0" "70" "12" "89997996" "89997996" "subst" "0" "00006" "ATP2B1_000011" "g.89997996T>C" "" "{PMID:Rahimi 2022:35358416}" "" "" "ACMG PS2_MOD, PS3_SUP, PM2_SUP, PP2, PP3; variant alone insufficient to explain phenotypes" "De novo" "" "" "0" "" "" "g.89604219T>C" "" "likely pathogenic (dominant)" "ACMG" "0000846961" "0" "70" "12" "89996908" "89996908" "subst" "0" "00006" "ATP2B1_000009" "g.89996908C>T" "" "{PMID:Rahimi 2022:35358416}" "" "" "ACMG PS3_SUP, PM1_MOD, PM2_SUP, PP2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.89603131C>T" "" "likely pathogenic (dominant)" "ACMG" "0000846962" "0" "90" "12" "89997934" "89997934" "subst" "0" "00006" "ATP2B1_000010" "g.89997934G>A" "" "{PMID:Rahimi 2022:35358416}" "" "" "ACMG PVS1, PS2_MOD, PM2_SUP" "De novo" "" "" "0" "" "" "g.89604157G>A" "" "pathogenic (dominant)" "ACMG" "0000846963" "0" "70" "12" "90028977" "90028977" "subst" "0" "00006" "ATP2B1_000017" "g.90028977C>T" "" "{PMID:Rahimi 2022:35358416}" "" "" "ACMG PVS1, PM2_SUP" "Germline/De novo (untested)" "" "" "0" "" "" "g.89635200C>T" "" "likely pathogenic (dominant)" "ACMG" "0000846964" "0" "70" "12" "90013816" "90013816" "subst" "0" "00006" "ATP2B1_000013" "g.90013816G>A" "" "{PMID:Rahimi 2022:35358416}" "" "" "ACMG PVS1, PM2_SUP" "Germline/De novo (untested)" "" "" "0" "" "" "g.89620039G>A" "" "likely pathogenic (dominant)" "ACMG" "0000846965" "0" "70" "12" "89998054" "89998054" "subst" "0" "00006" "ATP2B1_000005" "g.89998054T>C" "" "{PMID:Kaplanis 2020:33057194}" "" "" "ACMG PS2_MOD, PM2_SUP, PP2, PP3" "De novo" "" "" "0" "" "" "g.89604277T>C" "" "VUS" "ACMG" "0000846966" "0" "70" "12" "89996997" "89996997" "del" "0" "00006" "ATP2B1_000006" "g.89996997del" "" "{PMID:Kaplanis 2020:33057194}" "" "" "ACMG PVS1, PM2_SUP" "De novo" "" "" "0" "" "" "g.89603220del" "" "likely pathogenic (dominant)" "ACMG" "0000846967" "0" "70" "12" "90005088" "90005088" "subst" "0" "00006" "ATP2B1_000007" "g.90005088T>G" "" "{PMID:Kaplanis 2020:33057194}" "" "" "ACMG PS2_MOD, PM1_MOD, PM2_SUP, PP2, PP3" "De novo" "" "" "0" "" "" "g.89611311T>G" "" "likely pathogenic (dominant)" "ACMG" "0000846968" "0" "70" "12" "90013812" "90013812" "subst" "0" "00006" "ATP2B1_000008" "g.90013812A>G" "" "{PMID:Rahimi 2022:35358416}" "" "" "ACMG PS2_MOD, PM1_MOD, PM2_SUP, PP2, BS3_SUP; functional analysis membrane localization and tau value indistinguishable from wild type" "De novo" "" "" "0" "" "" "g.89620035A>G" "" "VUS (!)" "" "0000950045" "0" "50" "12" "90028665" "90028665" "subst" "0" "02327" "ATP2B1_000018" "g.90028665G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967109" "0" "50" "12" "89993007" "89993007" "subst" "4.06481E-6" "02325" "ATP2B1_000019" "g.89993007C>T" "" "" "" "ATP2B1(NM_001682.3):c.3238G>A (p.E1080K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980500" "0" "50" "12" "90005103" "90005103" "subst" "0" "01804" "ATP2B1_000020" "g.90005103C>T" "" "" "" "ATP2B1(NM_001366521.1):c.2114G>A (p.(Arg705Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980501" "0" "50" "12" "90010769" "90010769" "subst" "4.06656E-6" "01804" "ATP2B1_000021" "g.90010769G>C" "" "" "" "ATP2B1(NM_001366521.1):c.1877C>G (p.(Pro626Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980502" "0" "30" "12" "90021497" "90021497" "subst" "1.22114E-5" "01804" "ATP2B1_000022" "g.90021497T>C" "" "" "" "ATP2B1(NM_001366521.1):c.929-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980503" "0" "30" "12" "90035935" "90035935" "subst" "1.23043E-5" "01804" "ATP2B1_000023" "g.90035935G>A" "" "" "" "ATP2B1(NM_001366521.1):c.406C>T (p.(Leu136Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000362" "0" "30" "12" "89984969" "89984969" "subst" "0" "01804" "ATP2B1_000024" "g.89984969A>G" "" "" "" "ATP2B1(NM_001682.2):c.3455T>C (p.(Ile1152Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000363" "0" "50" "12" "89984987" "89984987" "subst" "0" "01804" "ATP2B1_000025" "g.89984987G>T" "" "" "" "ATP2B1(NM_001682.2):c.3437C>A (p.(Thr1146Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000365" "0" "50" "12" "90028936" "90028936" "subst" "0" "01804" "ATP2B1_000026" "g.90028936C>T" "" "" "" "ATP2B1(NM_001682.2):c.499G>A (p.(Val167Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000366" "0" "50" "12" "90035958" "90035958" "subst" "8.13187E-6" "01804" "ATP2B1_000027" "g.90035958T>C" "" "" "" "ATP2B1(NM_001682.2):c.383A>G (p.(Gln128Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015021" "0" "50" "12" "90028639" "90028639" "subst" "0" "02325" "ATP2B1_000028" "g.90028639C>A" "" "" "" "ATP2B1(NM_001682.3):c.703G>T (p.D235Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020151" "11" "70" "12" "89984899" "89984899" "dup" "0" "03544" "ATP2B1_000029" "g.89984899dup" "" "" "" "" "classified as likely pathogenic by in silico prediction tools, but of paternal origin (father\'s phenotype unknown)" "Germline" "?" "" "0" "" "" "g.89591122dup" "" "likely pathogenic (!)" "ACMG" "0001039509" "0" "30" "12" "89995096" "89995096" "subst" "1.02148E-5" "01804" "ATP2B1_000030" "g.89995096T>G" "" "" "" "ATP2B1(NM_001366521.1):c.3168+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039510" "0" "30" "12" "89995138" "89995138" "subst" "0.000913268" "01804" "ATP2B1_000031" "g.89995138T>C" "" "" "" "ATP2B1(NM_001366521.1):c.3133A>G (p.(Ile1045Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039511" "0" "50" "12" "89996981" "89996981" "subst" "1.63336E-5" "01804" "ATP2B1_000032" "g.89996981G>A" "" "" "" "ATP2B1(NM_001366521.1):c.2899C>T (p.(Pro967Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039512" "0" "30" "12" "90010285" "90010285" "subst" "0" "01804" "ATP2B1_000033" "g.90010285G>T" "" "" "" "ATP2B1(NM_001366521.1):c.2067+294C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039513" "0" "50" "12" "90020246" "90020246" "subst" "0" "01804" "ATP2B1_000034" "g.90020246G>T" "" "" "" "ATP2B1(NM_001366521.1):c.1114C>A (p.(Gln372Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047535" "0" "70" "12" "90015438" "90015438" "dup" "0" "01164" "ATP2B1_000035" "g.90015438dup" "" "" "" "" "ACMG: PVS1-very strong,PM2-supporting" "Germline" "?" "" "0" "" "" "NC_000012.12:g.89621661dup" "" "likely pathogenic (dominant)" "ACMG" "0001054438" "0" "50" "12" "90049560" "90049560" "subst" "0" "01804" "ATP2B1_000036" "g.90049560C>T" "" "" "" "ATP2B1(NM_001366521.1):c.104G>A (p.(Arg35Gln))" "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 ATP2B1 ## Count = 55 "{{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}}" "0000345566" "00003069" "50" "2470" "0" "2470" "0" "c.2470G>A" "r.(?)" "p.(Glu824Lys)" "" "0000614428" "00003069" "50" "2213" "0" "2213" "0" "c.2213A>T" "r.(?)" "p.(Asp738Val)" "" "0000724297" "00003069" "90" "2288" "0" "2288" "0" "c.2288G>C" "r.(?)" "p.(Arg763Pro)" "" "0000846953" "00003069" "70" "716" "0" "716" "0" "c.716A>T" "r.(?)" "p.(Asp239Val)" "" "0000846954" "00003069" "70" "791" "0" "791" "0" "c.791C>T" "r.(?)" "p.(Thr264Ile)" "" "0000846955" "00003069" "70" "1274" "0" "1274" "0" "c.1274C>A" "r.(?)" "p.(Thr425Lys)" "" "0000846956" "00003069" "70" "1376" "0" "1376" "0" "c.1376A>G" "r.(?)" "p.(His459Arg)" "" "0000846957" "00003069" "70" "2288" "0" "2288" "0" "c.2288G>C" "r.(?)" "p.(Arg763Pro)" "" "0000846958" "00003069" "70" "2365" "0" "2365" "0" "c.2365C>T" "r.(?)" "p.(Arg789Cys)" "" "0000846959" "00003069" "70" "2470" "0" "2470" "0" "c.2470G>A" "r.(?)" "p.(Glu824Lys)" "" "0000846960" "00003069" "70" "2570" "0" "2570" "0" "c.2570A>G" "r.(?)" "p.(Gln857Arg)" "" "0000846961" "00003069" "70" "2972" "0" "2972" "0" "c.2972G>A" "r.(?)" "p.(Arg991Gln)" "" "0000846962" "00003069" "90" "2632" "0" "2632" "0" "c.2632C>T" "r.(?)" "p.(Gln878Ter)" "" "0000846963" "00003069" "70" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Trp153Ter)" "" "0000846964" "00003069" "70" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Arg597Ter)" "" "0000846965" "00003069" "70" "2512" "0" "2512" "0" "c.2512A>G" "r.(?)" "p.(Ile838Val)" "" "0000846966" "00003069" "70" "2883" "0" "2883" "0" "c.2883del" "r.(?)" "p.(Asn961Lysfs*21)" "" "0000846967" "00003069" "70" "2129" "0" "2129" "0" "c.2129A>C" "r.(?)" "p.(Asp710Ala)" "" "0000846968" "00003069" "70" "1793" "0" "1793" "0" "c.1793T>C" "r.(?)" "p.(Ile598Thr)" "" "0000950045" "00026007" "50" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ala226Val)" "" "0000950045" "00003069" "50" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ala226Val)" "" "0000967109" "00026007" "50" "3238" "0" "3238" "0" "c.3238G>A" "r.(?)" "p.(Glu1080Lys)" "" "0000967109" "00003069" "50" "3238" "0" "3238" "0" "c.3238G>A" "r.(?)" "p.(Glu1080Lys)" "" "0000980500" "00026007" "50" "2114" "0" "2114" "0" "c.2114G>A" "r.(?)" "p.(Arg705Gln)" "" "0000980500" "00003069" "50" "2114" "0" "2114" "0" "c.2114G>A" "r.(?)" "p.(Arg705Gln)" "" "0000980501" "00026007" "50" "1877" "0" "1877" "0" "c.1877C>G" "r.(?)" "p.(Pro626Arg)" "" "0000980501" "00003069" "50" "1877" "0" "1877" "0" "c.1877C>G" "r.(?)" "p.(Pro626Arg)" "" "0000980502" "00026007" "30" "929" "-4" "929" "-4" "c.929-4A>G" "r.spl?" "p.?" "" "0000980502" "00003069" "30" "929" "-4" "929" "-4" "c.929-4A>G" "r.spl?" "p.?" "" "0000980503" "00026007" "30" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Leu136Phe)" "" "0000980503" "00003069" "30" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Leu136Phe)" "" "0001000362" "00026007" "30" "3455" "0" "3455" "0" "c.3455T>C" "r.(?)" "p.(Ile1152Thr)" "" "0001000362" "00003069" "30" "3455" "0" "3455" "0" "c.3455T>C" "r.(?)" "p.(Ile1152Thr)" "" "0001000363" "00026007" "50" "3437" "0" "3437" "0" "c.3437C>A" "r.(?)" "p.(Thr1146Lys)" "" "0001000363" "00003069" "50" "3437" "0" "3437" "0" "c.3437C>A" "r.(?)" "p.(Thr1146Lys)" "" "0001000365" "00026007" "50" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Val167Met)" "" "0001000365" "00003069" "50" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Val167Met)" "" "0001000366" "00026007" "50" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Gln128Arg)" "" "0001000366" "00003069" "50" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Gln128Arg)" "" "0001015021" "00026007" "50" "703" "0" "703" "0" "c.703G>T" "r.(?)" "p.(Asp235Tyr)" "" "0001015021" "00003069" "50" "703" "0" "703" "0" "c.703G>T" "r.(?)" "p.(Asp235Tyr)" "" "0001020151" "00003069" "70" "3525" "0" "3525" "0" "c.3525dup" "r.(3525dup)" "p.(Asn1176*)" "21" "0001039509" "00026007" "30" "3168" "7" "3168" "7" "c.3168+7A>C" "r.(=)" "p.(=)" "" "0001039509" "00003069" "30" "3168" "7" "3168" "7" "c.3168+7A>C" "r.(=)" "p.(=)" "" "0001039510" "00026007" "30" "3133" "0" "3133" "0" "c.3133A>G" "r.(?)" "p.(Ile1045Val)" "" "0001039510" "00003069" "30" "3133" "0" "3133" "0" "c.3133A>G" "r.(?)" "p.(Ile1045Val)" "" "0001039511" "00026007" "50" "2899" "0" "2899" "0" "c.2899C>T" "r.(?)" "p.(Pro967Ser)" "" "0001039511" "00003069" "50" "2899" "0" "2899" "0" "c.2899C>T" "r.(?)" "p.(Pro967Ser)" "" "0001039512" "00026007" "30" "2067" "294" "2067" "294" "c.2067+294C>A" "r.(=)" "p.(=)" "" "0001039512" "00003069" "30" "2067" "294" "2067" "294" "c.2067+294C>A" "r.(=)" "p.(=)" "" "0001039513" "00026007" "50" "1114" "0" "1114" "0" "c.1114C>A" "r.(?)" "p.(Gln372Lys)" "" "0001039513" "00003069" "50" "1114" "0" "1114" "0" "c.1114C>A" "r.(?)" "p.(Gln372Lys)" "" "0001047535" "00003069" "70" "1475" "0" "1475" "0" "c.1475dup" "r.(?)" "p.(Asn493Lysfs*2)" "10" "0001054438" "00026007" "50" "104" "0" "104" "0" "c.104G>A" "r.(?)" "p.(Arg35Gln)" "" "0001054438" "00003069" "50" "104" "0" "104" "0" "c.104G>A" "r.(?)" "p.(Arg35Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000409742" "0000846953" "0000409743" "0000846954" "0000409744" "0000846955" "0000409745" "0000846956" "0000409746" "0000846957" "0000409747" "0000846958" "0000409748" "0000846959" "0000409749" "0000846960" "0000409750" "0000846961" "0000409751" "0000846962" "0000409752" "0000846963" "0000409753" "0000846964" "0000409754" "0000846965" "0000409755" "0000846966" "0000409756" "0000846967" "0000409757" "0000846968" "0000461060" "0001020151" "0000468067" "0001047535"