### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP8A2) # 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}}" "ATP8A2" "ATPase, aminophospholipid transporter, class I, type 8A, member 2" "13" "q12" "unknown" "NG_042855.1" "UD_132319704543" "" "https://www.LOVD.nl/ATP8A2" "" "1" "13533" "51761" "605870" "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/ATP8A2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-11-09 11:20:22" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00003128" "ATP8A2" "ATPase, aminophospholipid transporter, class I, type 8A, member 2" "001" "NM_016529.4" "" "NP_057613.4" "" "" "" "-142" "4864" "3567" "25946209" "26595420" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "03872" "CAMRQ4" "ataxia, cerebellar, mental retardation, and dysequilibrium syndrome, type 4 (CAMRQ-4)" "AR" "615268" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05599" "CAMRQ" "ataxia, cerebellar, mental retardation, quadrupedal locomotion (CAMRQ)" "" "" "" "" "" "00006" "2019-05-24 09:17:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ATP8A2" "03872" "ATP8A2" "05599" ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{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}}" "00235344" "" "" "" "1" "" "00006" "{PMID:Onat 2013:22892528}" "3-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Turkey" "" "0" "" "" "" "" "00235351" "" "" "" "4" "" "00006" "{PMID:Alsahli 2018:29531481}" "4-generation family, 4 affected siblings (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "Family 1" "00235352" "" "" "" "4" "" "00006" "{PMID:Alsahli 2018:29531481}" "4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "Family 2" "00235353" "" "" "" "2" "" "00006" "{PMID:Alsahli 2018:29531481}" "4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Family 3" "00235354" "" "" "" "1" "" "00006" "{PMID:McMillan 2018:30012219}" "" "F" "" "Canada;Algeria" "" "0" "" "" "" "Pat1" "00235355" "" "" "" "1" "" "00006" "{PMID:McMillan 2018:30012219}" "" "F" "" "United States" "" "0" "" "" "" "Pat2" "00235356" "" "" "" "1" "" "00006" "{PMID:McMillan 2018:30012219}" "" "F" "yes" "Turkey" "" "0" "" "" "" "Pat3" "00235357" "" "" "" "1" "" "00006" "{PMID:McMillan 2018:30012219}" "" "F" "yes" "Morocco" "" "0" "" "" "" "Pat4" "00235358" "" "" "" "1" "" "00006" "{PMID:McMillan 2018:30012219}" "" "M" "yes" "Sri Lanka" "" "0" "" "" "" "Pat5" "00235359" "" "" "" "1" "" "00006" "{PMID:McMillan 2018:30012219}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat6" "00235360" "" "" "" "1" "" "00006" "{PMID:McMillan 2018:30012219}" "" "M" "yes" "Iran" "" "0" "" "" "" "Pat7" "00235361" "" "" "" "1" "" "00006" "{PMID:McMillan 2018:30012219}" "" "M" "" "Lebanon" "" "0" "" "" "" "Pat8" "00235362" "" "" "" "1" "" "00006" "{PMID:McMillan 2018:30012219}" "" "F" "" "Lebanon" "" "0" "" "" "" "Pat9" "00235363" "" "" "" "1" "" "00006" "{PMID:McMillan 2018:30012219}" "" "F" "yes" "Spain" "" "0" "" "" "" "Pat10" "00235364" "" "" "" "1" "" "00006" "{PMID:McMillan 2018:30012219}" "" "F" "" "Argentina;Spain" "" "0" "" "" "" "Pat11" "00235366" "" "" "" "1" "" "00006" "{PMID:Martín-Hernández 2016:27679995}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "Spain" "" "0" "" "" "" "Fam1Pat1" "00235367" "" "" "" "1" "" "00006" "{PMID:Martín-Hernández 2016:27679995}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "Spain" "" "0" "" "" "" "Fam2Pat2" "00235369" "" "" "" "1" "" "00006" "{PMID:Cacciagli 2010:20683487}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "France" "" "0" "" "" "" "patient" "00295630" "" "" "" "1" "" "03626" "{PMID:Heidari 2021:33565221}, {DOI: Heidari 2021: 10.1002/humu.24180}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "Iran" "09y" "0" "" "" "" "PatA1" "00295631" "" "" "" "1" "" "03626" "{PMID:Heidari 2021:33565221}, {DOI: Heidari 2021: 10.1002/humu.24180}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "Iran" "07y" "0" "" "" "" "PatA2" "00295632" "" "" "" "1" "" "03626" "{PMID:Heidari 2021:33565221}, {DOI: Heidari 2021: 10.1002/humu.24180}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "Iran" "02y" "0" "" "" "" "PatA3" "00301700" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "M" "yes" "Jordan" "" "0" "" "" "" "17-3865" "00307935" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "M" "" "" "" "0" "" "" "" "15DG2032" "00307936" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "F" "" "" "" "0" "" "" "" "17DG0764" "00314874" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "F" "" "United States" "" "0" "" "" "" "Trio40" "00374221" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3386" "00374539" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3831" "00374667" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3679" "00407874" "" "" "" "1" "" "00006" "{PMID:Oud 2020:31985809}" "" "M" "" "Lebanon" "" "0" "" "" "" "PatGL-13" "00426112" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "61BN1100" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00235344" "00198" "00235351" "05599" "00235352" "05599" "00235353" "05599" "00235354" "05599" "00235355" "05599" "00235356" "05599" "00235357" "05599" "00235358" "05599" "00235359" "05599" "00235360" "05599" "00235361" "05599" "00235362" "05599" "00235363" "05599" "00235364" "05599" "00235366" "00198" "00235367" "00198" "00235369" "00198" "00295630" "03872" "00295631" "03872" "00295632" "03872" "00301700" "00198" "00307935" "00139" "00307936" "00139" "00314874" "00198" "00374221" "00198" "00374539" "00198" "00374667" "00198" "00407874" "00201" "00426112" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00201, 03872, 05599 ## Count = 30 "{{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}}" "0000175608" "00198" "00235344" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, dysequilibrium syndrome" "" "0000175613" "05599" "00235351" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, and disequilibrium syndrome" "" "0000175614" "05599" "00235352" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, and disequilibrium syndrome" "" "0000175615" "05599" "00235353" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, and disequilibrium syndrome" "" "0000175616" "05599" "00235354" "00006" "Familial, autosomal recessive" "5y" "see paper; …" "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, quadrupedal locomotion" "" "0000175617" "05599" "00235355" "00006" "Familial, autosomal recessive" "2y6m" "see paper; …" "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, quadrupedal locomotion" "" "0000175618" "05599" "00235356" "00006" "Familial, autosomal recessive" "2y9m" "see paper; …" "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, quadrupedal locomotion" "" "0000175619" "05599" "00235357" "00006" "Familial, autosomal recessive" "6y" "see paper; …" "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, quadrupedal locomotion" "" "0000175620" "05599" "00235358" "00006" "Familial, autosomal recessive" "5y" "see paper; …" "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, quadrupedal locomotion" "" "0000175621" "05599" "00235359" "00006" "Familial, autosomal recessive" "9y" "see paper; …" "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, quadrupedal locomotion" "" "0000175622" "05599" "00235360" "00006" "Familial, autosomal recessive" "15y" "see paper; …" "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, quadrupedal locomotion" "" "0000175623" "05599" "00235361" "00006" "Familial, autosomal recessive" "16y" "see paper; …" "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, quadrupedal locomotion" "" "0000175624" "05599" "00235362" "00006" "Familial, autosomal recessive" "28y" "see paper; …" "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, quadrupedal locomotion" "" "0000175625" "05599" "00235363" "00006" "Familial, autosomal recessive" "8y6m" "see paper; …" "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, quadrupedal locomotion" "" "0000175626" "05599" "00235364" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, quadrupedal locomotion" "" "0000175627" "00198" "00235366" "00006" "Familial, autosomal recessive" "" "encephalopathy, intellectual disability, severe hypotonia, chorea, optic atrophy" "" "" "" "" "" "" "" "" "CAMRQ-4" "" "" "0000175628" "00198" "00235367" "00006" "Familial, autosomal recessive" "" "see paper; ..., encephalopathy, intellectual disability, severe hypotonia, chorea, optic atrophy" "" "" "" "" "" "" "" "" "CAMRQ-4" "" "" "0000175630" "00198" "00235369" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe mental retardation, major hypotonia" "" "0000223194" "03872" "00295630" "03626" "Familial, autosomal recessive" "" "developmental delay, intellectual disability, walking disability, hypotonia, muscle weakness, decreased muscles bulk, failure to thrive; 1y-seizures generalized tonic-clonic; choreathetosis (especially upper limbs); no tremor; head titubation; normal lower limbs deep tendon reflexes, normal upper limbs deep tendon reflexes, Babinski reflex; not ambulant (bed-ridden); dystonia; facial dyskinesia; 1y-first words; microcephaly; MRI brain normal; ophthalmoplegia; no nystagmus; optic atrophy; no hearing impairment; no pes planus; feeding difficulties; oligodontia, dental malalignment, delayed totth eruption; no gingival hyperplasia; no joint stiffness" "" "" "" "" "" "" "" "" "" "" "" "0000223195" "03872" "00295631" "03626" "Familial, autosomal recessive" "" "developmental delay, intellectual disability, walking disability, hypotonia, muscle weakness, decreased muscles bulk, failure to thrive; no seizures; choreathetosis (especially upper limbs); no tremor; head titubation; decreased lower limbs deep tendon reflexes, decreased upper limbs deep tendon reflexes, Babinski reflex; not ambulant (bed-ridden); dystonia; facial dyskinesia; 5y6m-first words; no microcephaly, below-average head circumference; MRI brain mild frontotemporal cortical atrophy, deepening of bilateral sylvian fissure, abnormal opercularization, thinning of the corpus callosum, white matter volume loss; ophthalmoplegia; no nystagmus; optic atrophy; no hearing impairment; mild pes planus; feeding difficulties; dental malalignment, early dental decay, delayed tooth eruption; gingival hyperplasia; joint stiffness" "" "" "" "" "" "" "" "" "" "" "" "0000223196" "03872" "00295632" "03626" "Familial, autosomal recessive" "" "developmental delay, intellectual disability, walking disability, hypotonia, muscle weakness, decreased muscles bulk, failure to thrive; generalized tonic-clonic seizures; choreathetosis (especially upper limbs); no tremor; head titubation; normal lower limbs deep tendon reflexes, normal upper limbs deep tendon reflexes, Babinski reflex; not ambulant (bed-ridden); dystonia; facial dyskinesia; 10m-first words; no microcephaly, below-average head circumference; MRI brain normal; ophthalmoplegia; no nystagmus; optic atrophy; no hearing impairment; pes planus; feeding difficulties; dental malalignment, early dental decay, delayed tooth eruption; mild gingival hyperplasia; joint stiffness" "" "" "" "" "" "" "" "" "" "" "" "0000228798" "00198" "00301700" "00006" "Familial, autosomal recessive" "7y" "3y-developmental delay. His evaluation confirmed global developmental delay and revealed the presence of dyskinetic movement. Brain MRI was suggestive of leukodystrophy. EEG was abnormal with multifocal activity. He has two healthy siblings." "" "" "" "" "" "" "" "" "" "" "" "0000233358" "00139" "00307935" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., Global developmental delay; Hypotonia, Hyporeflexia" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000233359" "00139" "00307936" "00006" "Familial, autosomal recessive" "1y" "see paper; ..., Global developmental delay; Hypotonia, Hyporeflexia, Choreoathetosis, Generalized muscle weakness" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000238632" "00198" "00314874" "00006" "Unknown" "5y" "Microcephaly, developmental delay and hypotonia, seizures." "1d" "" "" "" "" "" "" "" "" "" "" "0000269431" "00198" "00374221" "00006" "Familial, autosomal recessive" "" "Global developmental delay and dystonia" "" "" "" "" "" "" "" "" "" "dystonia, intellectual disability" "" "0000269749" "00198" "00374539" "00006" "Familial, autosomal recessive" "" "delayed motor development, hypotonia and muscle weakness" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000269877" "00198" "00374667" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "obsessive disease, auditory hallucination" "" "0000300004" "00201" "00407874" "00006" "Unknown" "" "see paper; ..., globozoospermia" "" "" "" "" "" "" "" "" "" "globozoospermia" "" "0000317262" "00139" "00426112" "00006" "Familial, autosomal recessive" "17y" "" "" "" "" "" "" "" "" "" "?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000236449" "00235344" "1" "00006" "00006" "2019-05-23 10:09:07" "" "" "SEQ" "DNA" "" "" "0000236455" "00235351" "1" "00006" "00006" "2019-05-24 09:21:32" "" "" "SEQ" "DNA" "" "WES" "0000236456" "00235352" "1" "00006" "00006" "2019-05-24 09:27:11" "00006" "2019-05-24 09:33:37" "SEQ" "DNA" "" "WGS" "0000236457" "00235353" "1" "00006" "00006" "2019-05-24 09:31:20" "" "" "SEQ" "DNA" "" "" "0000236458" "00235354" "1" "00006" "00006" "2019-05-24 09:48:24" "" "" "SEQ-NG" "DNA" "" "WES" "0000236459" "00235355" "1" "00006" "00006" "2019-05-24 09:48:24" "" "" "SEQ-NG" "DNA" "" "WES" "0000236460" "00235356" "1" "00006" "00006" "2019-05-24 09:48:24" "" "" "SEQ" "DNA" "" "" "0000236461" "00235357" "1" "00006" "00006" "2019-05-24 09:48:24" "" "" "SEQ" "DNA" "" "" "0000236462" "00235358" "1" "00006" "00006" "2019-05-24 09:48:24" "" "" "SEQ-NG" "DNA" "" "WES" "0000236463" "00235359" "1" "00006" "00006" "2019-05-24 09:48:24" "" "" "SEQ" "DNA" "" "" "0000236464" "00235360" "1" "00006" "00006" "2019-05-24 09:48:24" "" "" "SEQ" "DNA" "" "" "0000236465" "00235361" "1" "00006" "00006" "2019-05-24 09:48:24" "" "" "SEQ" "DNA" "" "" "0000236466" "00235362" "1" "00006" "00006" "2019-05-24 09:48:24" "" "" "SEQ" "DNA" "" "" "0000236467" "00235363" "1" "00006" "00006" "2019-05-24 09:48:24" "" "" "SEQ" "DNA" "" "" "0000236468" "00235364" "1" "00006" "00006" "2019-05-24 09:48:24" "" "" "SEQ" "DNA" "" "" "0000236469" "00235366" "1" "00006" "00006" "2019-05-24 10:29:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000236470" "00235367" "1" "00006" "00006" "2019-05-24 10:31:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000236472" "00235369" "1" "00006" "00006" "2019-05-24 10:43:25" "" "" "SEQ" "DNA" "" "" "0000296802" "00295630" "1" "03626" "03626" "2020-03-21 10:44:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000296803" "00295631" "1" "03626" "03626" "2020-03-21 10:55:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000296804" "00295632" "1" "03626" "03626" "2020-03-21 11:01:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000302824" "00301700" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000309079" "00307935" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000309080" "00307936" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000316048" "00314874" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000375415" "00374221" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375733" "00374539" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375861" "00374667" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000409126" "00407874" "1" "00006" "00006" "2022-04-09 21:45:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000427432" "00426112" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{geneid}}" "0000236449" "ATP8A2" "0000236455" "ATP8A2" "0000236456" "ATP8A2" "0000236457" "ATP8A2" "0000236458" "ATP8A2" "0000236459" "ATP8A2" "0000236460" "ATP8A2" "0000236461" "ATP8A2" "0000236462" "ATP8A2" "0000236463" "ATP8A2" "0000236464" "ATP8A2" "0000236465" "ATP8A2" "0000236466" "ATP8A2" "0000236467" "ATP8A2" "0000236468" "ATP8A2" "0000236469" "ATP8A2" "0000236470" "ATP8A2" "0000236472" "ATP8A2" "0000302824" "ATP8A2" "0000309079" "ATP8A2" "0000309080" "ATP8A2" "0000316048" "ATP8A2" "0000375415" "ATP8A2" "0000375733" "ATP8A2" "0000375861" "ATP8A2" ## 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 = 73 "{{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}}" "0000259563" "0" "30" "13" "26144991" "26144991" "subst" "0.000268754" "02325" "ATP8A2_000002" "g.26144991C>T" "" "" "" "ATP8A2(NM_016529.5):c.1560C>T (p.I520=), ATP8A2(NM_016529.6):c.1560C>T (p.I520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25570853C>T" "" "likely benign" "" "0000259564" "0" "30" "13" "26535734" "26535734" "subst" "0.000552387" "02325" "ATP8A2_000003" "g.26535734G>A" "" "" "" "ATP8A2(NM_016529.6):c.3205G>A (p.A1069T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25961596G>A" "" "likely benign" "" "0000263376" "0" "30" "13" "26043245" "26043245" "subst" "0.00112671" "01943" "ATP8A2_000001" "g.26043245C>T" "" "" "" "ATP8A2(NM_016529.5):c.207C>T (p.R69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25469107C>T" "" "likely benign" "" "0000342259" "0" "50" "13" "26114522" "26114522" "subst" "0" "02327" "ATP8A2_000004" "g.26114522G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25540384G>A" "" "VUS" "" "0000343138" "0" "70" "13" "26151250" "26151250" "subst" "8.12559E-6" "02327" "ATP8A2_000005" "g.26151250C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25577112C>T" "" "likely pathogenic" "" "0000346792" "0" "50" "13" "26156087" "26156087" "subst" "0.0016976" "02327" "ATP8A2_000006" "g.26156087T>C" "" "" "" "ATP8A2(NM_016529.5):c.2138T>C (p.I713T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25581949T>C" "" "VUS" "" "0000480159" "3" "90" "13" "26128001" "26128001" "subst" "0" "00006" "ATP8A2_000007" "g.26128001C>G" "" "{PMID:Onat 2013:22892528}" "" "" "" "Germline" "yes" "" "0" "" "" "g.25553863C>G" "" "pathogenic (recessive)" "" "0000480174" "3" "90" "13" "26151235" "26151235" "subst" "4.06488E-6" "00006" "ATP8A2_000008" "g.26151235C>T" "" "{PMID:Alsahli 2018:29531481}" "" "" "" "Germline" "yes" "" "0" "" "" "g.25577097C>T" "" "pathogenic (recessive)" "" "0000480175" "3" "90" "13" "26273310" "26273310" "subst" "0" "00006" "ATP8A2_000009" "g.26273310G>C" "" "{PMID:Alsahli 2018:29531481}" "" "" "" "Germline" "yes" "" "0" "" "" "g.25699172G>C" "" "pathogenic (recessive)" "" "0000480176" "3" "90" "13" "26402325" "26402325" "subst" "0" "00006" "ATP8A2_000010" "g.26402325A>G" "" "{PMID:Alsahli 2018:29531481}" "" "" "" "Germline" "yes" "" "0" "" "" "g.25828187A>G" "" "pathogenic (recessive)" "" "0000480177" "1" "90" "13" "26128063" "26128063" "subst" "0" "00006" "ATP8A2_000011" "g.26128063G>A" "" "{PMID:McMillan 2018:30012219}" "" "" "" "Germline" "" "" "0" "" "" "g.25553925G>A" "" "pathogenic (recessive)" "" "0000480178" "1" "90" "13" "26152957" "26152957" "del" "0" "00006" "ATP8A2_000013" "g.26152957del" "" "{PMID:McMillan 2018:30012219}" "" "1787delA" "" "Germline" "" "" "0" "" "" "g.25578819del" "" "pathogenic (recessive)" "" "0000480179" "3" "90" "13" "26151250" "26151250" "subst" "8.12559E-6" "00006" "ATP8A2_000005" "g.26151250C>T" "" "{PMID:McMillan 2018:30012219}" "" "" "" "Germline" "" "" "0" "" "" "g.25577112C>T" "" "pathogenic (recessive)" "" "0000480180" "3" "90" "13" "26156053" "26156053" "subst" "0" "00006" "ATP8A2_000015" "g.26156053T>C" "" "{PMID:McMillan 2018:30012219}" "" "" "" "Germline" "" "" "0" "" "" "g.25581915T>C" "" "pathogenic (recessive)" "" "0000480181" "3" "90" "13" "26133133" "26133133" "subst" "0" "00006" "ATP8A2_000016" "g.26133133A>T" "" "{PMID:McMillan 2018:30012219}" "" "" "" "Germline" "" "" "0" "" "" "g.25558995A>T" "" "pathogenic (recessive)" "" "0000480182" "3" "90" "13" "26144904" "26145831" "del" "0" "00006" "ATP8A2_000017" "g.(26138170_26144904)_(26145831_26148945)del" "" "{PMID:McMillan 2018:30012219}" "" "del ex17-18" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000480183" "3" "90" "13" "26144904" "26145831" "del" "0" "00006" "ATP8A2_000017" "g.(26138170_26144904)_(26145831_26148945)del" "" "{PMID:McMillan 2018:30012219}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000480184" "3" "90" "13" "26535717" "26535725" "del" "0" "00006" "ATP8A2_000018" "g.26535717_26535725delinsGAAGAAG" "" "{PMID:McMillan 2018:30012219}" "" "3188_3196delCTATGGTCCinsGAAGAAG" "" "Germline" "" "" "0" "" "" "g.25961579_25961587delinsGAAGAAG" "" "pathogenic (recessive)" "" "0000480185" "3" "90" "13" "26535717" "26535725" "del" "0" "00006" "ATP8A2_000018" "g.26535717_26535725delinsGAAGAAG" "" "{PMID:McMillan 2018:30012219}" "" "3188_3196delCTATGGTCCinsGAAGAAG" "" "Germline" "" "" "0" "" "" "g.25961579_25961587delinsGAAGAAG" "" "pathogenic (recessive)" "" "0000480186" "3" "90" "13" "26133134" "26133134" "subst" "0" "00006" "ATP8A2_000019" "g.26133134G>T" "" "{PMID:McMillan 2018:30012219}" "" "" "" "Germline" "" "" "0" "" "" "g.25558996G>T" "" "pathogenic (recessive)" "" "0000480187" "1" "90" "13" "26145798" "26145798" "subst" "0" "00006" "ATP8A2_000020" "g.26145798G>C" "" "{PMID:McMillan 2018:30012219}" "" "" "" "Germline" "" "" "0" "" "" "g.25571660G>C" "" "pathogenic (recessive)" "" "0000480188" "2" "90" "13" "26402255" "26436547" "del" "0" "00006" "ATP8A2_000012" "g.(26349098_26402255)_(26436547_26535712)del" "" "{PMID:McMillan 2018:30012219}" "" "del ex28–33" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000480189" "2" "70" "13" "26104239" "26104244" "del" "0" "00006" "ATP8A2_000014" "g.26104239_26104244del" "" "{PMID:McMillan 2018:30012219}" "" "321+3_321+8delAATGGT" "" "Germline" "" "" "0" "" "" "g.25530101_25530106del" "" "likely pathogenic (recessive)" "" "0000480190" "2" "90" "13" "26153951" "26153951" "subst" "0" "00006" "ATP8A2_000021" "g.26153951C>T" "" "{PMID:McMillan 2018:30012219}" "" "" "" "Germline" "" "" "0" "" "" "g.25579813C>T" "" "pathogenic (recessive)" "" "0000480191" "3" "90" "13" "26133134" "26133134" "subst" "0" "00006" "ATP8A2_000019" "g.26133134G>T" "" "{PMID:Martín-Hernández 2016:27679995}" "" "" "" "Germline" "" "" "0" "" "" "g.25558996G>T" "" "pathogenic (recessive)" "" "0000480192" "20" "90" "13" "26145798" "26145798" "subst" "0" "00006" "ATP8A2_000020" "g.26145798G>C" "" "{PMID:Martín-Hernández 2016:27679995}" "" "" "" "De novo" "" "" "0" "" "" "g.25571660G>C" "" "pathogenic (recessive)" "" "0000480193" "11" "90" "13" "26153951" "26153951" "subst" "0" "00006" "ATP8A2_000021" "g.26153951C>T" "" "{PMID:Martín-Hernández 2016:27679995}" "" "" "" "Germline" "" "" "0" "" "" "g.25579813C>T" "" "pathogenic (recessive)" "" "0000480200" "0" "90" "13" "0" "0" "" "0" "00006" "ATP8A2_000022" "g.26333634_qterdelins[NC_000010.10:pter_28806017inv]" "" "{PMID:Cacciagli 2010:20683487}" "" "chr13:25231633/chr10:28846023" "" "De novo" "" "" "0" "" "46,XX,t(10;13)(p12.1;q12.13)dn" "" "" "pathogenic" "" "0000480204" "0" "90" "13" "0" "0" "" "0" "00006" "ATP8A2_000022" "g.[NC_000010.10:pter_28806017]delins26333634_qterinv" "" "{PMID:Cacciagli 2010:20683487}" "" "chr13:25231633/chr10:28846023" "" "DUPLICATE record" "" "" "0" "" "46,XX,t(10;13)(p12.1;q12.13)dn" "" "" "pathogenic" "" "0000550117" "0" "30" "13" "25946436" "25946436" "subst" "0.00118241" "01943" "ATP8A2_000023" "g.25946436G>A" "" "" "" "ATP8A2(NM_016529.5):c.76+10G>A, ATP8A2(NM_016529.6):c.76+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25372298G>A" "" "likely benign" "" "0000550118" "0" "50" "13" "26104716" "26104716" "subst" "0" "02327" "ATP8A2_000024" "g.26104716C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25530578C>T" "" "VUS" "" "0000550119" "0" "50" "13" "26112178" "26112178" "subst" "0" "02327" "ATP8A2_000025" "g.26112178A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25538040A>G" "" "VUS" "" "0000550120" "0" "10" "13" "26133886" "26133886" "subst" "0.00146849" "01943" "ATP8A2_000026" "g.26133886G>A" "" "" "" "ATP8A2(NM_016529.5):c.1380G>A (p.P460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25559748G>A" "" "benign" "" "0000550121" "0" "10" "13" "26151285" "26151285" "subst" "0.00137793" "01943" "ATP8A2_000027" "g.26151285C>T" "" "" "" "ATP8A2(NM_016529.5):c.1782+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25577147C>T" "" "benign" "" "0000550122" "0" "30" "13" "26153941" "26153941" "dup" "0" "01804" "ATP8A2_000028" "g.26153941dup" "" "" "" "ATP8A2(NM_016529.6):c.1868-5dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25579803dup" "" "likely benign" "" "0000550123" "0" "50" "13" "26156087" "26156087" "subst" "0.0016976" "01943" "ATP8A2_000006" "g.26156087T>C" "" "" "" "ATP8A2(NM_016529.5):c.2138T>C (p.I713T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25581949T>C" "" "VUS" "" "0000550124" "0" "30" "13" "26343265" "26343265" "subst" "5.6905E-5" "01943" "ATP8A2_000029" "g.26343265C>T" "" "" "" "ATP8A2(NM_016529.5):c.2466C>T (p.G822=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25769127C>T" "" "likely benign" "" "0000550125" "0" "10" "13" "26343358" "26343358" "subst" "0.00092099" "01943" "ATP8A2_000030" "g.26343358C>T" "" "" "" "ATP8A2(NM_016529.5):c.2559C>T (p.A853=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25769220C>T" "" "benign" "" "0000550127" "0" "50" "13" "26434332" "26434332" "subst" "0" "02325" "ATP8A2_000032" "g.26434332G>A" "" "" "" "ATP8A2(NM_016529.6):c.2957-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25860194G>A" "" "VUS" "" "0000550129" "0" "50" "13" "26436499" "26436499" "subst" "0" "01804" "ATP8A2_000034" "g.26436499T>C" "" "" "" "ATP8A2(NM_016529.4):c.3136T>C (p.(Ser1046Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25862361T>C" "" "VUS" "" "0000653513" "3" "70" "13" "26153944" "26153944" "subst" "0" "03626" "ATP8A2_000037" "g.26153944A>G" "" "{PMID:Heidari 2021:33565221}, {DOI: Heidari 2021: 10.1002/humu.24180}" "" "" "" "Germline" "yes" "" "0" "" "" "g.25579806A>G" "" "pathogenic" "" "0000653514" "3" "70" "13" "26343272" "26343272" "subst" "0" "03626" "ATP8A2_000036" "g.26343272G>C" "" "{PMID:Heidari 2021:33565221}, {DOI: Heidari 2021: 10.1002/humu.24180}" "" "" "" "Germline" "yes" "" "0" "" "" "g.25769134G>C" "" "pathogenic" "" "0000653515" "3" "70" "13" "26133159" "26133159" "subst" "0" "03626" "ATP8A2_000035" "g.26133159A>G" "" "{PMID:Heidari 2021:33565221}, {DOI: Heidari 2021: 10.1002/humu.24180}" "" "" "" "Germline" "yes" "" "0" "" "" "g.25559021A>G" "" "pathogenic (recessive)" "" "0000657269" "0" "30" "13" "26535736" "26535736" "subst" "8.12301E-6" "01943" "ATP8A2_000038" "g.26535736A>G" "" "" "" "ATP8A2(NM_016529.5):c.3207A>G (p.A1069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25961598A>G" "" "likely benign" "" "0000666181" "3" "70" "13" "26273310" "26273310" "subst" "0" "00006" "ATP8A2_000009" "g.26273310G>C" "" "{PMID:Maddirevula 2019:30237576}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.25699172G>C" "" "likely pathogenic (recessive)" "ACMG" "0000679751" "0" "30" "13" "26148987" "26148987" "subst" "0.000731399" "01943" "ATP8A2_000039" "g.26148987A>G" "" "" "" "ATP8A2(NM_016529.5):c.1704A>G (p.E568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679752" "0" "30" "13" "26273302" "26273302" "subst" "0.000102897" "01943" "ATP8A2_000040" "g.26273302T>C" "" "" "" "ATP8A2(NM_016529.5):c.2212-9T>C, ATP8A2(NM_016529.6):c.2212-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679753" "0" "30" "13" "26434998" "26434998" "subst" "0.00298863" "01943" "ATP8A2_000033" "g.26434998A>G" "" "" "" "ATP8A2(NM_016529.5):c.3075A>G (p.K1025=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683542" "3" "70" "13" "26349018" "26349018" "subst" "0" "00006" "ATP8A2_000042" "g.26349018A>C" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PM1,PM2, PP3,PP1" "Germline" "" "" "0" "" "" "g.25774880A>C" "" "likely pathogenic (recessive)" "ACMG" "0000683543" "3" "70" "13" "26104699" "26104699" "subst" "0" "00006" "ATP8A2_000041" "g.26104699G>T" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PM2" "Germline" "" "" "0" "" "" "g.25530561G>T" "" "likely pathogenic (recessive)" "ACMG" "0000698174" "0" "90" "13" "26127983" "26127983" "subst" "0" "00006" "ATP8A2_000043" "g.26127983C>A" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.25553845C>A" "" "likely pathogenic (dominant)" "" "0000724397" "0" "50" "13" "25946418" "25946418" "subst" "0.000225705" "01943" "ATP8A2_000044" "g.25946418C>G" "" "" "" "ATP8A2(NM_016529.5):c.68C>G (p.S23W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786766" "3" "70" "13" "26434941" "26434941" "subst" "0" "00006" "ATP8A2_000048" "g.26434941G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.25860803G>A" "" "likely pathogenic" "" "0000787084" "3" "70" "13" "26273311" "26436546" "del" "0" "00006" "ATP8A2_000046" "g.(?_26273311)_(26436546_?)del" "" "{PMID:Ganapathy 2019:31069529}" "" "chr13:26273311-?_26436546+?del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000787212" "1" "50" "13" "26148994" "26148994" "subst" "0.000230892" "00006" "ATP8A2_000045" "g.26148994A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs555217046" "0" "" "" "g.25574856A>G" "" "VUS" "" "0000787565" "2" "50" "13" "26343230" "26343230" "subst" "8.5379E-5" "00000" "ATP8A2_000047" "g.26343230C>T" "" "0" "" "" "" "Germline" "" "rs560280973" "0" "" "" "g.25769092C>T" "" "VUS" "" "0000806056" "0" "30" "13" "26043251" "26043251" "subst" "9.35636E-5" "01943" "ATP8A2_000049" "g.26043251C>T" "" "" "" "ATP8A2(NM_016529.5):c.213C>T (p.N71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806057" "0" "30" "13" "26144991" "26144991" "subst" "0.000268754" "01943" "ATP8A2_000002" "g.26144991C>T" "" "" "" "ATP8A2(NM_016529.5):c.1560C>T (p.I520=), ATP8A2(NM_016529.6):c.1560C>T (p.I520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806058" "0" "30" "13" "26145842" "26145853" "del" "0" "01943" "ATP8A2_000050" "g.26145842_26145853del" "" "" "" "ATP8A2(NM_016529.5):c.1662+12_1662+23delGCGTGTGCACAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806059" "0" "30" "13" "26154092" "26154092" "subst" "0.000460188" "01943" "ATP8A2_000051" "g.26154092G>A" "" "" "" "ATP8A2(NM_016529.5):c.2007+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000846196" "3" "50" "13" "26273432" "26273432" "subst" "0.000419692" "00006" "ATP8A2_000052" "g.26273432G>A" "" "{PMID:Oud 2020:31985809}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000853596" "0" "50" "13" "26144957" "26144957" "subst" "0" "01943" "ATP8A2_000054" "g.26144957C>T" "" "" "" "ATP8A2(NM_016529.5):c.1526C>T (p.T509M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863239" "0" "30" "13" "26125582" "26125582" "subst" "3.66122E-5" "01943" "ATP8A2_000053" "g.26125582C>T" "" "" "" "ATP8A2(NM_016529.5):c.998C>T (p.A333V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000904792" "3" "70" "13" "26535802" "26535802" "del" "0" "00006" "ATP8A2_000055" "g.26535802del" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.25961664del" "" "likely pathogenic (recessive)" "" "0000950067" "0" "30" "13" "25946436" "25946436" "subst" "0.00118241" "02325" "ATP8A2_000023" "g.25946436G>A" "" "" "" "ATP8A2(NM_016529.5):c.76+10G>A, ATP8A2(NM_016529.6):c.76+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980595" "0" "50" "13" "26114478" "26114478" "del" "0" "01804" "ATP8A2_000056" "g.26114478del" "" "" "" "ATP8A2(NM_016529.6):c.603del (p.(Tyr201*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980596" "0" "50" "13" "26117515" "26117515" "subst" "0" "01804" "ATP8A2_000057" "g.26117515C>G" "" "" "" "ATP8A2(NM_016529.6):c.866C>G (p.(Thr289Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980597" "0" "30" "13" "26155952" "26155952" "subst" "0" "01804" "ATP8A2_000058" "g.26155952T>C" "" "" "" "ATP8A2(NM_016529.6):c.2008-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980598" "0" "50" "13" "26273302" "26273302" "subst" "0.000102897" "01804" "ATP8A2_000040" "g.26273302T>C" "" "" "" "ATP8A2(NM_016529.5):c.2212-9T>C, ATP8A2(NM_016529.6):c.2212-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039625" "0" "50" "13" "26104746" "26104746" "subst" "0" "01804" "ATP8A2_000059" "g.26104746C>T" "" "" "" "ATP8A2(NM_016529.6):c.368C>T (p.(Pro123Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039626" "0" "50" "13" "26128062" "26128062" "subst" "8.18599E-6" "01804" "ATP8A2_000060" "g.26128062A>G" "" "" "" "ATP8A2(NM_016529.6):c.1185+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039627" "0" "30" "13" "26133909" "26133909" "subst" "0.000199396" "01804" "ATP8A2_000061" "g.26133909T>C" "" "" "" "ATP8A2(NM_016529.6):c.1397+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039628" "0" "50" "13" "26155984" "26155984" "subst" "8.13438E-6" "01804" "ATP8A2_000062" "g.26155984A>G" "" "" "" "ATP8A2(NM_016529.6):c.2035A>G (p.(Ile679Val))" "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 ATP8A2 ## Count = 73 "{{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}}" "0000259563" "00003128" "30" "1560" "0" "1560" "0" "c.1560C>T" "r.(?)" "p.(Ile520=)" "" "0000259564" "00003128" "30" "3205" "0" "3205" "0" "c.3205G>A" "r.(?)" "p.(Ala1069Thr)" "" "0000263376" "00003128" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Arg69=)" "" "0000342259" "00003128" "50" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216His)" "" "0000343138" "00003128" "70" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Ter)" "" "0000346792" "00003128" "50" "2138" "0" "2138" "0" "c.2138T>C" "r.(?)" "p.(Ile713Thr)" "" "0000480159" "00003128" "90" "1128" "0" "1128" "0" "c.1128C>G" "r.(?)" "p.(Ile376Met)" "" "0000480174" "00003128" "90" "1741" "0" "1741" "0" "c.1741C>T" "r.(?)" "p.(Arg581*)" "" "0000480175" "00003128" "90" "2212" "-1" "2212" "-1" "c.2212-1G>C" "r.spl" "p.?" "" "0000480176" "00003128" "90" "2749" "0" "2749" "0" "c.2749A>G" "r.(?)" "p.(Asn917Asp)" "" "0000480177" "00003128" "90" "1185" "5" "1185" "5" "c.1185+5G>A" "r.spl?" "p.?" "" "0000480178" "00003128" "90" "1787" "0" "1787" "0" "c.1787del" "r.(?)" "p.(Asn596Metfs*2)" "" "0000480179" "00003128" "90" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586*)" "" "0000480180" "00003128" "90" "2104" "0" "2104" "0" "c.2104T>C" "r.(?)" "p.(Trp702Arg)" "" "0000480181" "00003128" "90" "1286" "0" "1286" "0" "c.1286A>T" "r.(?)" "p.(Lys429Met)" "" "0000480182" "00003128" "90" "1474" "-1" "1662" "1" "c.(1473+1_1474-1)_(1662+1_1663-1)del" "r.?" "p.?" "16i_18i" "0000480183" "00003128" "90" "1474" "-1" "1662" "1" "c.(1473+1_1474-1)_(1662+1_1663-1)del" "r.?" "p.?" "16i_18i" "0000480184" "00003128" "90" "3188" "0" "3196" "0" "c.3188_3196delinsGAAGAAG" "r.(?)" "p.(Thr1063Argfs*22)" "" "0000480185" "00003128" "90" "3188" "0" "3196" "0" "c.3188_3196delinsGAAGAAG" "r.(?)" "p.(Thr1063Argfs*22)" "" "0000480186" "00003128" "90" "1287" "0" "1287" "0" "c.1287G>T" "r.(?)" "p.(Lys429Asn)" "" "0000480187" "00003128" "90" "1630" "0" "1630" "0" "c.1630G>C" "r.(?)" "p.(Ala544Pro)" "" "0000480188" "00003128" "90" "2680" "-1" "3183" "1" "c.(2679+1_2680-1)_(3183+1_3184-1)del" "r.?" "p.?" "27i_33i" "0000480189" "00003128" "70" "321" "3" "321" "8" "c.321+3_321+8del" "r.spl?" "p.?" "3i" "0000480190" "00003128" "90" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625Trp)" "" "0000480191" "00003128" "90" "1287" "0" "1287" "0" "c.1287G>T" "r.(?)" "p.(Lys429Asn)" "" "0000480192" "00003128" "90" "1630" "0" "1630" "0" "c.1630G>C" "r.(?)" "p.(Ala544Pro)" "" "0000480193" "00003128" "90" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625Trp)" "" "0000480200" "00003128" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "25i" "0000480204" "00003128" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "25i" "0000550117" "00003128" "30" "76" "10" "76" "10" "c.76+10G>A" "r.(=)" "p.(=)" "" "0000550118" "00003128" "50" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Phe)" "" "0000550119" "00003128" "50" "560" "0" "560" "0" "c.560A>G" "r.(?)" "p.(Asp187Gly)" "" "0000550120" "00003128" "10" "1380" "0" "1380" "0" "c.1380G>A" "r.(?)" "p.(Pro460=)" "" "0000550121" "00003128" "10" "1782" "9" "1782" "9" "c.1782+9C>T" "r.(=)" "p.(=)" "" "0000550122" "00003128" "30" "1868" "-5" "1868" "-5" "c.1868-5dup" "r.spl?" "p.?" "" "0000550123" "00003128" "50" "2138" "0" "2138" "0" "c.2138T>C" "r.(?)" "p.(Ile713Thr)" "" "0000550124" "00003128" "30" "2466" "0" "2466" "0" "c.2466C>T" "r.(?)" "p.(Gly822=)" "" "0000550125" "00003128" "10" "2559" "0" "2559" "0" "c.2559C>T" "r.(?)" "p.(Ala853=)" "" "0000550127" "00003128" "50" "2957" "-1" "2957" "-1" "c.2957-1G>A" "r.spl?" "p.?" "" "0000550129" "00003128" "50" "3136" "0" "3136" "0" "c.3136T>C" "r.(?)" "p.(Ser1046Pro)" "" "0000653513" "00003128" "70" "1868" "-2" "1868" "-2" "c.1868-2A>G" "r.spl" "p.?" "" "0000653514" "00003128" "70" "2473" "0" "2473" "0" "c.2473G>C" "r.(?)" "p.(Asp825His)" "26" "0000653515" "00003128" "70" "1312" "0" "1312" "0" "c.1312A>G" "r.(?)" "p.(Met438Val)" "14" "0000657269" "00003128" "30" "3207" "0" "3207" "0" "c.3207A>G" "r.(?)" "p.(Ala1069=)" "" "0000666181" "00003128" "70" "2212" "-1" "2212" "-1" "c.2212-1G>C" "r.spl" "p.?" "" "0000679751" "00003128" "30" "1704" "0" "1704" "0" "c.1704A>G" "r.(?)" "p.(Glu568=)" "" "0000679752" "00003128" "30" "2212" "-9" "2212" "-9" "c.2212-9T>C" "r.(=)" "p.(=)" "" "0000679753" "00003128" "30" "3075" "0" "3075" "0" "c.3075A>G" "r.(?)" "p.(Lys1025=)" "" "0000683542" "00003128" "70" "2600" "0" "2600" "0" "c.2600A>C" "r.(?)" "p.(His867Pro)" "" "0000683543" "00003128" "70" "322" "-1" "322" "-1" "c.322-1G>T" "r.spl" "p.?" "" "0000698174" "00003128" "90" "1110" "0" "1110" "0" "c.1110C>A" "r.(?)" "p.(Tyr370*)" "" "0000724397" "00003128" "50" "68" "0" "68" "0" "c.68C>G" "r.(?)" "p.(Ser23Trp)" "" "0000786766" "00003128" "70" "3019" "-1" "3019" "-1" "c.3019-1G>A" "r.spl" "p.?" "31i" "0000787084" "00003128" "70" "2212" "-1" "3183" "1" "c.(2211+1_2212-1)_(3183+1_3184-1)del" "r.?" "p.?" "24i_33i" "0000787212" "00003128" "50" "1711" "0" "1711" "0" "c.1711A>G" "r.(?)" "p.(Ser571Gly)" "19" "0000787565" "00003128" "50" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Arg811Trp)" "26" "0000806056" "00003128" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Asn71=)" "" "0000806057" "00003128" "30" "1560" "0" "1560" "0" "c.1560C>T" "r.(?)" "p.(Ile520=)" "" "0000806058" "00003128" "30" "1662" "12" "1662" "23" "c.1662+12_1662+23del" "r.(=)" "p.(=)" "" "0000806059" "00003128" "30" "2007" "7" "2007" "7" "c.2007+7G>A" "r.(=)" "p.(=)" "" "0000846196" "00003128" "50" "2333" "0" "2333" "0" "c.2333G>A" "r.(?)" "p.(Arg778Gln)" "" "0000853596" "00003128" "50" "1526" "0" "1526" "0" "c.1526C>T" "r.(?)" "p.(Thr509Met)" "" "0000863239" "00003128" "30" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ala333Val)" "" "0000904792" "00003128" "70" "3272" "1" "3272" "1" "c.3272+1del" "r.spl" "p.?" "" "0000950067" "00003128" "30" "76" "10" "76" "10" "c.76+10G>A" "r.(=)" "p.(=)" "" "0000980595" "00003128" "50" "603" "0" "603" "0" "c.603del" "r.(?)" "p.(Tyr201*)" "" "0000980596" "00003128" "50" "866" "0" "866" "0" "c.866C>G" "r.(?)" "p.(Thr289Ser)" "" "0000980597" "00003128" "30" "2008" "-5" "2008" "-5" "c.2008-5T>C" "r.spl?" "p.?" "" "0000980598" "00003128" "50" "2212" "-9" "2212" "-9" "c.2212-9T>C" "r.(=)" "p.(=)" "" "0001039625" "00003128" "50" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Pro123Leu)" "" "0001039626" "00003128" "50" "1185" "4" "1185" "4" "c.1185+4A>G" "r.spl?" "p.?" "" "0001039627" "00003128" "30" "1397" "6" "1397" "6" "c.1397+6T>C" "r.(=)" "p.(=)" "" "0001039628" "00003128" "50" "2035" "0" "2035" "0" "c.2035A>G" "r.(?)" "p.(Ile679Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{variantid}}" "0000236449" "0000480159" "0000236455" "0000480174" "0000236456" "0000480175" "0000236457" "0000480176" "0000236458" "0000480177" "0000236458" "0000480188" "0000236459" "0000480178" "0000236459" "0000480189" "0000236460" "0000480179" "0000236461" "0000480180" "0000236462" "0000480181" "0000236463" "0000480182" "0000236464" "0000480183" "0000236465" "0000480184" "0000236466" "0000480185" "0000236467" "0000480186" "0000236468" "0000480187" "0000236468" "0000480190" "0000236469" "0000480191" "0000236470" "0000480192" "0000236470" "0000480193" "0000236472" "0000480200" "0000236472" "0000480204" "0000296802" "0000653513" "0000296803" "0000653514" "0000296804" "0000653515" "0000302824" "0000666181" "0000309079" "0000683542" "0000309080" "0000683543" "0000316048" "0000698174" "0000375415" "0000786766" "0000375733" "0000787084" "0000375861" "0000787212" "0000375861" "0000787565" "0000409126" "0000846196" "0000427432" "0000904792"