### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP13A2) # 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}}" "ATP13A2" "ATPase type 13A2" "1" "p36" "unknown" "NG_009054.1" "UD_132084541624" "" "https://www.LOVD.nl/ATP13A2" "" "1" "30213" "23400" "610513" "1" "1" "1" "1" "Alias CLN12.\r\nAn NCL gene variant database.\r\nEstablishment of this database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/ATP13A2_codingDNA.html" "1" "" "An NCL gene variant database\r\n
\r\n
" "-1" "" "-1" "00001" "2011-07-27 00:00:00" "00006" "2017-04-03 14:04:01" "00006" "2026-03-06 17:26:39" ## 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}}" "00003144" "ATP13A2" "transcript variant 1" "003" "NM_022089.2" "" "NP_071372.1" "" "" "" "-190" "3806" "3543" "17338423" "17312453" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "00215" "KRS;CLN12;PARK9" "Kufor-Rakeb syndrome" "AR" "606693" "" "" "" "00008" "2013-10-02 11:35:03" "00006" "2022-11-17 09:45:53" "05258" "CLN" "lipofuscinosis, ceroid, neuronal (CLN)" "" "" "" "" "" "00006" "2017-04-03 15:00:30" "00006" "2017-04-04 08:43:07" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "06012" "SPG78" "Spastic paraplegia 78, autosomal recessive" "AR" "617225" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" "07233" "paraplegia" "paraplegia" "" "" "" "" "" "00006" "2026-03-03 14:58:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ATP13A2" "00215" "ATP13A2" "06012" ## 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}}" "00003015" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "M" "" "" "" "0" "" "" "" "Pat7mov;Pat17" "00102746" "" "" "" "2" "" "00006" "{PMID:Park 2011:21542062}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "Asian" "21542062-PatIIa" "00102747" "" "" "" "1" "" "00006" "{PMID:Park 2011:21542062}" "sister of IIa" "F" "no" "" "" "0" "" "" "Asian" "21542062-PatIIb" "00104697" "" "" "" "4" "" "00006" "{PMID:Bras 2012:22388936}, {DOI:Bras 2012:10.1093/hmg/dds089}" "2-generation family, 4 affecteds (3F, M), unaffected heterozygous carrier parents" "F;M" "" "Belgium" "" "0" "" "" "" "22388936-Fam" "00289593" "" "" "" "43" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289594" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289595" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289596" "" "" "" "73" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289597" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304162" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304163" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307875" "" "" "" "1" "" "03765" "" "" "M" "yes" "Oman" "" "0" "" "" "" "?" "00374666" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1003" "00465599" "" "" "" "1" "" "04851" "" "" "F" "yes" "Pakistan" "" "" "" "" "" "" "00468673" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00470642" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "F" "" "Poland" "" "0" "" "" "" "Pat3" "00473199" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, 2 affected sibs, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam108113Pat379" "00473582" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9407088Pat972" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00003015" "00215" "00102746" "00215" "00102747" "00215" "00104697" "05258" "00289593" "00198" "00289594" "00198" "00289595" "00198" "00289596" "00198" "00289597" "00198" "00304162" "00198" "00304163" "00198" "00307875" "00215" "00374666" "00198" "00465599" "00139" "00468673" "00198" "00470642" "07210" "00473199" "07233" "00473582" "05356" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00215, 05258, 05356, 06012, 07210, 07233 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000001866" "00215" "00003015" "00130" "Isolated (sporadic)" "" "hereditary spastic paraplegia, Parkinson disease, ID, slow vertical saccades" "<01y" "" "" "" "" "" "" "" "PARK9" "hereditary spastic paraplegia" "" "0000080879" "00215" "00102746" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000080880" "00215" "00102747" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082612" "05258" "00104697" "00006" "Familial, autosomal recessive" "" "see paper; ..., age at onset 13y/14y/13y/16y, granular osmiophilic deposits lamellar structures" "<17y" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000233300" "00215" "00307875" "03765" "Familial, autosomal recessive" "" "Visual impairment, Retinal dystrophy, Seizures, Muscular hypotonia, Global developmental delay, Brisk reflexes, Hepatomegaly, Exaggerated startle response, Elevated hepatic transaminase, Mongolian blue spot, Brain atrophy, Abnormal myelination" "?" "02y09m" "" "" "" "" "" "" "" "" "" "0000269876" "00198" "00374666" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000351146" "00139" "00465599" "04851" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Intellectual Disability" "" "0000353826" "00198" "00468673" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000355536" "07210" "00470642" "00006" "Isolated (sporadic)" "26y" "see paper; ... scoliosis, no other skeletal defects; back pain, paraparesis; lipoma;" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" "0000357994" "07233" "00473199" "00006" "Unknown" "41y" "two affected siblings, age 42y , spastic gait started 3y earlier, progressive spastic paraplegia dysarthria, unbalanced gait and normal EMG/NCV." "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358377" "05356" "00473582" "00006" "Unknown" "47y" "Cerebellar ataxia; Hyperreflexia; Spasticity; Extrapyramidal signs; Cognitive decline" "" "" "" "" "" "" "" "" "" "hereditary ataxia" "" ## 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}}" "0000002921" "00003015" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000103198" "00102746" "0" "00006" "00006" "2011-07-27 14:49:48" "" "" "SEQ" "DNA" "" "" "0000103199" "00102747" "0" "00006" "00006" "2011-07-27 14:49:48" "" "" "SEQ" "DNA" "" "" "0000105169" "00104697" "1" "00006" "00006" "2017-05-19 16:32:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000290761" "00289593" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290762" "00289594" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290763" "00289595" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290764" "00289596" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290765" "00289597" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305291" "00304162" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305292" "00304163" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309015" "00307875" "1" "03765" "03765" "2020-08-20 02:33:39" "" "" "SEQ" "DNA" "DNA" "" "0000375860" "00374666" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000467247" "00465599" "1" "04851" "04851" "2025-05-22 16:36:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000470341" "00468673" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472309" "00470642" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474868" "00473199" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475251" "00473582" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000002921" "ATP13A2" "0000103198" "ATP13A2" "0000103199" "ATP13A2" "0000105169" "ATP13A2" "0000309015" "ATP13A2" "0000375860" "ATP13A2" "0000467247" "ATP13A2" ## 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 = 169 "{{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}}" "0000021295" "3" "70" "1" "17316252" "17316252" "subst" "0" "00130" "ATP13A2_000003" "g.17316252C>T" "" "{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "2675G>A (Gly892Asp)" "-" "Unknown" "?" "" "0" "" "" "g.16989757C>T" "" "likely pathogenic" "" "0000166304" "20" "70" "1" "17313359" "17313359" "subst" "0" "00006" "ATP13A2_000001" "g.17313359A>C" "" "{PMID:Park 2011:21542062}" "" "L1059R" "" "Germline" "yes" "" "0" "" "" "g.16986864A>C" "" "likely pathogenic" "" "0000166305" "20" "70" "1" "17313359" "17313359" "subst" "0" "00006" "ATP13A2_000001" "g.17313359A>C" "" "{PMID:Park 2011:21542062}" "" "L1059R" "" "Germline" "yes" "" "0" "" "" "g.16986864A>C" "" "likely pathogenic" "" "0000166306" "10" "70" "1" "17313112" "17313112" "del" "0" "00006" "ATP13A2_000002" "g.17313112del" "" "{PMID:Park 2011:21542062}" "" "3253delC; L1085WfsX1088" "" "Germline" "yes" "" "0" "" "" "g.16986617del" "" "likely pathogenic" "" "0000166307" "10" "70" "1" "17313112" "17313112" "del" "0" "00006" "ATP13A2_000002" "g.17313112del" "" "{PMID:Park 2011:21542062}" "" "3253delC; L1085WfsX1088" "" "Germline" "yes" "" "0" "" "" "g.16986617del" "" "likely pathogenic" "" "0000170441" "3" "90" "1" "17316234" "17316234" "subst" "0" "00006" "ATP13A2_000005" "g.17316234A>C" "" "{PMID:Bras 2012:22388936}, {DOI:Bras 2012:10.1093/hmg/dds089}" "" "T2429G (Met810Arg)" "" "Germline" "yes" "" "0" "" "" "g.16989739A>C" "" "pathogenic" "" "0000255373" "0" "70" "1" "17331185" "17331185" "subst" "6.09479E-5" "01943" "ATP13A2_000049" "g.17331185A>C" "" "" "" "ATP13A2(NM_001141973.3):c.462+17T>G, ATP13A2(NM_022089.2):c.477+2T>G, ATP13A2(NM_022089.4):c.477+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17004690A>C" "" "likely pathogenic" "" "0000259173" "0" "10" "1" "17314702" "17314702" "subst" "0.248812" "02325" "ATP13A2_000026" "g.17314702C>T" "" "" "" "ATP13A2(NM_001141973.3):c.2775G>A (p.S925=), ATP13A2(NM_022089.2):c.2790G>A (p.S930=), ATP13A2(NM_022089.4):c.2790G>A (p.S930=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16988207C>T" "" "benign" "" "0000259174" "0" "10" "1" "17313454" "17313454" "subst" "0.281109" "02325" "ATP13A2_000024" "g.17313454G>A" "" "" "" "ATP13A2(NM_001141973.3):c.3069-3C>T, ATP13A2(NM_022089.2):c.3084-3C>T, ATP13A2(NM_022089.4):c.3084-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986959G>A" "" "benign" "" "0000259175" "0" "10" "1" "17313343" "17313343" "subst" "0.4669" "02325" "ATP13A2_000022" "g.17313343G>A" "" "" "" "ATP13A2(NM_001141973.3):c.3177C>T (p.A1059=), ATP13A2(NM_022089.2):c.3192C>T (p.A1064=), ATP13A2(NM_022089.4):c.3192C>T (p.A1064=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986848G>A" "" "benign" "" "0000259176" "0" "10" "1" "17312743" "17312743" "subst" "0.47141" "02325" "ATP13A2_000011" "g.17312743C>T" "" "" "" "ATP13A2(NM_001141974.3):c.3214G>A (p.A1072T), ATP13A2(NM_022089.2):c.3516G>A (p.P1172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986248C>T" "" "benign" "" "0000259177" "0" "10" "1" "17313248" "17313259" "del" "0" "02325" "ATP13A2_000018" "g.17313248_17313259del" "" "" "" "ATP13A2(NM_022089.4):c.3235+44_3235+55delAGGAGCCCTGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986753_16986764del" "" "benign" "" "0000259178" "0" "10" "1" "17313157" "17313157" "subst" "0.472394" "02325" "ATP13A2_000016" "g.17313157G>A" "" "" "" "ATP13A2(NM_022089.4):c.3236-30C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986662G>A" "" "benign" "" "0000259531" "0" "30" "1" "17312473" "17312473" "subst" "0.000257303" "02325" "ATP13A2_000006" "g.17312473T>G" "" "" "" "ATP13A2(NM_022089.4):c.*243A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16985978T>G" "" "likely benign" "" "0000259532" "0" "30" "1" "17332059" "17332059" "subst" "0.000930849" "02325" "ATP13A2_000052" "g.17332059C>T" "" "" "" "ATP13A2(NM_022089.2):c.106-8G>A, ATP13A2(NM_022089.4):c.106-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17005564C>T" "" "likely benign" "" "0000259533" "0" "30" "1" "17323505" "17323505" "subst" "0.00627745" "02325" "ATP13A2_000041" "g.17323505C>T" "" "" "" "ATP13A2(NM_001141973.2):c.1180+10G>A, ATP13A2(NM_022089.4):c.1195+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16997010C>T" "" "likely benign" "" "0000259534" "0" "30" "1" "17322984" "17322984" "subst" "0.000349784" "02325" "ATP13A2_000039" "g.17322984G>A" "" "" "" "ATP13A2(NM_001141973.2):c.1188C>T (p.C396=), ATP13A2(NM_022089.4):c.1203C>T (p.C401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16996489G>A" "" "likely benign" "" "0000259535" "0" "30" "1" "17320301" "17320301" "subst" "0" "02325" "ATP13A2_000037" "g.17320301G>A" "" "" "" "ATP13A2(NM_022089.4):c.1572C>T (p.D524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16993806G>A" "" "likely benign" "" "0000259536" "0" "30" "1" "17320259" "17320259" "subst" "0.00345407" "02325" "ATP13A2_000036" "g.17320259G>A" "" "" "" "ATP13A2(NM_022089.2):c.1614C>T (p.P538=), ATP13A2(NM_022089.4):c.1614C>T (p.P538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16993764G>A" "" "likely benign" "" "0000259537" "0" "30" "1" "17318787" "17318787" "subst" "8.32945E-5" "02325" "ATP13A2_000035" "g.17318787G>A" "" "" "" "ATP13A2(NM_022089.4):c.1956C>T (p.Y652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16992292G>A" "" "likely benign" "" "0000259538" "0" "30" "1" "17318617" "17318617" "subst" "1.22137E-5" "02325" "ATP13A2_000034" "g.17318617G>A" "" "" "" "ATP13A2(NM_022089.4):c.2013C>T (p.T671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16992122G>A" "" "likely benign" "" "0000259539" "0" "30" "1" "17313448" "17313448" "subst" "0.000719571" "02325" "ATP13A2_000023" "g.17313448G>A" "" "" "" "ATP13A2(NM_001141973.2):c.3072C>T (p.F1024=), ATP13A2(NM_022089.4):c.3087C>T (p.F1029=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986953G>A" "" "likely benign" "" "0000259540" "0" "30" "1" "17313284" "17313284" "subst" "0" "02325" "ATP13A2_000020" "g.17313284G>C" "" "" "" "ATP13A2(NM_022089.4):c.3235+16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986789G>C" "" "likely benign" "" "0000259541" "0" "30" "1" "17313105" "17313105" "subst" "0.000122005" "02325" "ATP13A2_000015" "g.17313105C>T" "" "" "" "ATP13A2(NM_022089.4):c.3258G>A (p.A1086=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986610C>T" "" "likely benign" "" "0000259542" "0" "30" "1" "17312596" "17312596" "subst" "0.00350961" "02325" "ATP13A2_000010" "g.17312596T>A" "" "" "" "ATP13A2(NM_001141974.2):c.3361A>T (p.T1121S), ATP13A2(NM_001141974.3):c.3361A>T (p.T1121S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986101T>A" "" "likely benign" "" "0000259543" "0" "30" "1" "17313000" "17313000" "subst" "0" "02325" "ATP13A2_000013" "g.17313000C>T" "" "" "" "ATP13A2(NM_022089.4):c.3363G>A (p.L1121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986505C>T" "" "likely benign" "" "0000259544" "0" "30" "1" "17312586" "17312586" "subst" "0.0030474" "02325" "ATP13A2_000008" "g.17312586G>A" "" "" "" "ATP13A2(NM_001141973.1):c.*130C>T (p.(=)), ATP13A2(NM_001141974.2):c.3371C>T (p.P1124L), ATP13A2(NM_001141974.3):c.3371C>T (p.P1124L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986091G>A" "" "likely benign" "" "0000259545" "0" "30" "1" "17328776" "17328776" "subst" "0.000253293" "02325" "ATP13A2_000047" "g.17328776C>T" "" "" "" "ATP13A2(NM_022089.4):c.635+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17002281C>T" "" "likely benign" "" "0000259694" "0" "50" "1" "17312850" "17312850" "subst" "2.19684E-5" "02325" "ATP13A2_000012" "g.17312850C>T" "" "" "" "ATP13A2(NM_001141973.3):c.3394G>A (p.V1132M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986355C>T" "" "VUS" "" "0000259695" "0" "50" "1" "17312526" "17312526" "subst" "8.23549E-5" "02325" "ATP13A2_000007" "g.17312526C>T" "" "" "" "ATP13A2(NM_001141974.3):c.3431G>A (p.R1144H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986031C>T" "" "VUS" "" "0000260230" "0" "10" "1" "17338460" "17338460" "subst" "0" "02329" "ATP13A2_000053" "g.17338460G>A" "" "" "" "ATP13A2(NM_001141973.3):c.-227C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17011965G>A" "" "benign" "" "0000260231" "0" "10" "1" "17323505" "17323505" "subst" "0.00627745" "02329" "ATP13A2_000041" "g.17323505C>T" "" "" "" "ATP13A2(NM_001141973.2):c.1180+10G>A, ATP13A2(NM_022089.4):c.1195+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16997010C>T" "" "benign" "" "0000260232" "0" "10" "1" "17323449" "17323449" "subst" "0" "02329" "ATP13A2_000040" "g.17323449T>C" "" "" "" "ATP13A2(NM_022089.4):c.1195+66A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16996954T>C" "" "benign" "" "0000260233" "0" "10" "1" "17314942" "17314942" "subst" "0.464988" "02329" "ATP13A2_000030" "g.17314942G>A" "" "" "" "ATP13A2(NM_001141973.3):c.2622C>T (p.G874=), ATP13A2(NM_022089.2):c.2637C>T (p.G879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16988447G>A" "" "benign" "" "0000260234" "0" "10" "1" "17314702" "17314702" "subst" "0.248812" "02329" "ATP13A2_000026" "g.17314702C>T" "" "" "" "ATP13A2(NM_001141973.3):c.2775G>A (p.S925=), ATP13A2(NM_022089.2):c.2790G>A (p.S930=), ATP13A2(NM_022089.4):c.2790G>A (p.S930=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16988207C>T" "" "benign" "" "0000260235" "0" "10" "1" "17313654" "17313654" "subst" "0.46696" "02329" "ATP13A2_000025" "g.17313654C>T" "" "" "" "ATP13A2(NM_001141973.3):c.2955G>A (p.V985=), ATP13A2(NM_022089.2):c.2970G>A (p.V990=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16987159C>T" "" "benign" "" "0000260236" "0" "10" "1" "17313454" "17313454" "subst" "0.281109" "02329" "ATP13A2_000024" "g.17313454G>A" "" "" "" "ATP13A2(NM_001141973.3):c.3069-3C>T, ATP13A2(NM_022089.2):c.3084-3C>T, ATP13A2(NM_022089.4):c.3084-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986959G>A" "" "benign" "" "0000260237" "0" "10" "1" "17313343" "17313343" "subst" "0.4669" "02329" "ATP13A2_000022" "g.17313343G>A" "" "" "" "ATP13A2(NM_001141973.3):c.3177C>T (p.A1059=), ATP13A2(NM_022089.2):c.3192C>T (p.A1064=), ATP13A2(NM_022089.4):c.3192C>T (p.A1064=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986848G>A" "" "benign" "" "0000260238" "0" "10" "1" "17312743" "17312743" "subst" "0.47141" "02329" "ATP13A2_000011" "g.17312743C>T" "" "" "" "ATP13A2(NM_001141974.3):c.3214G>A (p.A1072T), ATP13A2(NM_022089.2):c.3516G>A (p.P1172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986248C>T" "" "benign" "" "0000260239" "0" "30" "1" "17313248" "17313259" "del" "0" "02329" "ATP13A2_000017" "g.17313248_17313259del" "" "" "" "ATP13A2(NM_022089.4):c.3235+44_3235+55delAGGAGCCCTGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986753_16986764del" "" "likely benign" "" "0000260240" "0" "30" "1" "17312596" "17312596" "subst" "0.00350961" "02329" "ATP13A2_000010" "g.17312596T>A" "" "" "" "ATP13A2(NM_001141974.2):c.3361A>T (p.T1121S), ATP13A2(NM_001141974.3):c.3361A>T (p.T1121S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986101T>A" "" "likely benign" "" "0000260241" "0" "10" "1" "17312592" "17312592" "subst" "0.0400496" "02329" "ATP13A2_000009" "g.17312592G>A" "" "" "" "ATP13A2(NM_001141974.3):c.3365C>T (p.P1122L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986097G>A" "" "benign" "" "0000260242" "0" "30" "1" "17331211" "17331211" "subst" "0.00109266" "02329" "ATP13A2_000050" "g.17331211G>A" "" "" "" "ATP13A2(NM_022089.2):c.453C>T (p.S151=), ATP13A2(NM_022089.4):c.453C>T (p.S151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17004716G>A" "" "likely benign" "" "0000260243" "0" "30" "1" "17326723" "17326726" "del" "0" "02329" "ATP13A2_000045" "g.17326723_17326726del" "" "" "" "ATP13A2(NM_022089.4):c.907+15_907+18delCCCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17000228_17000231del" "" "likely benign" "" "0000260244" "0" "10" "1" "17326540" "17326540" "subst" "0.0262428" "02329" "ATP13A2_000043" "g.17326540G>A" "" "" "" "ATP13A2(NM_022089.2):c.1005C>T (p.A335=), ATP13A2(NM_022089.4):c.1005C>T (p.A335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17000045G>A" "" "benign" "" "0000263213" "0" "30" "1" "17332059" "17332059" "subst" "0.000930849" "01943" "ATP13A2_000052" "g.17332059C>T" "" "" "" "ATP13A2(NM_022089.2):c.106-8G>A, ATP13A2(NM_022089.4):c.106-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17005564C>T" "" "likely benign" "" "0000263214" "0" "30" "1" "17323630" "17323630" "subst" "9.35484E-5" "01943" "ATP13A2_000042" "g.17323630C>G" "" "" "" "ATP13A2(NM_001141973.2):c.1065G>C (p.G355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16997135C>G" "" "likely benign" "" "0000263215" "0" "30" "1" "17323505" "17323505" "subst" "0.00627745" "01943" "ATP13A2_000041" "g.17323505C>T" "" "" "" "ATP13A2(NM_001141973.2):c.1180+10G>A, ATP13A2(NM_022089.4):c.1195+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16997010C>T" "" "likely benign" "" "0000263216" "0" "30" "1" "17322793" "17322793" "subst" "0.00106012" "01943" "ATP13A2_000038" "g.17322793G>C" "" "" "" "ATP13A2(NM_022089.2):c.1309C>G (p.L437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16996298G>C" "" "likely benign" "" "0000263217" "0" "30" "1" "17320259" "17320259" "subst" "0.00345407" "01943" "ATP13A2_000036" "g.17320259G>A" "" "" "" "ATP13A2(NM_022089.2):c.1614C>T (p.P538=), ATP13A2(NM_022089.4):c.1614C>T (p.P538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16993764G>A" "" "likely benign" "" "0000263218" "0" "50" "1" "17316771" "17316771" "subst" "0.000258532" "01943" "ATP13A2_000033" "g.17316771G>C" "" "" "" "ATP13A2(NM_001141973.2):c.2248C>G (p.Q750E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16990276G>C" "" "VUS" "" "0000263219" "0" "30" "1" "17316239" "17316239" "subst" "2.43789E-5" "01943" "ATP13A2_000032" "g.17316239G>A" "" "" "" "ATP13A2(NM_001141973.2):c.2541C>T (p.A847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16989744G>A" "" "likely benign" "" "0000263220" "0" "90" "1" "17314950" "17314950" "subst" "4.06421E-6" "01943" "ATP13A2_000031" "g.17314950C>T" "" "" "" "ATP13A2(NM_022089.2):c.2629G>A (p.G877R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16988455C>T" "" "pathogenic" "" "0000263221" "0" "10" "1" "17314942" "17314942" "subst" "0.464988" "01943" "ATP13A2_000030" "g.17314942G>A" "" "" "" "ATP13A2(NM_001141973.3):c.2622C>T (p.G874=), ATP13A2(NM_022089.2):c.2637C>T (p.G879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16988447G>A" "" "benign" "" "0000263222" "0" "50" "1" "17314880" "17314880" "subst" "0" "01943" "ATP13A2_000029" "g.17314880G>A" "" "" "" "ATP13A2(NM_022089.2):c.2699C>T (p.A900V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16988385G>A" "" "VUS" "" "0000263223" "0" "10" "1" "17314855" "17314855" "subst" "0.000710666" "01943" "ATP13A2_000028" "g.17314855C>T" "" "" "" "ATP13A2(NM_001141973.2):c.2709G>A (p.S903=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16988360C>T" "" "benign" "" "0000263224" "0" "30" "1" "17314834" "17314834" "subst" "4.06114E-5" "01943" "ATP13A2_000027" "g.17314834G>A" "" "" "" "ATP13A2(NM_022089.2):c.2745C>T (p.C915=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16988339G>A" "" "likely benign" "" "0000263225" "0" "10" "1" "17314702" "17314702" "subst" "0.248812" "01943" "ATP13A2_000026" "g.17314702C>T" "" "" "" "ATP13A2(NM_001141973.3):c.2775G>A (p.S925=), ATP13A2(NM_022089.2):c.2790G>A (p.S930=), ATP13A2(NM_022089.4):c.2790G>A (p.S930=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16988207C>T" "" "benign" "" "0000263226" "0" "10" "1" "17313654" "17313654" "subst" "0.46696" "01943" "ATP13A2_000025" "g.17313654C>T" "" "" "" "ATP13A2(NM_001141973.3):c.2955G>A (p.V985=), ATP13A2(NM_022089.2):c.2970G>A (p.V990=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16987159C>T" "" "benign" "" "0000263227" "0" "10" "1" "17313454" "17313454" "subst" "0.281109" "01943" "ATP13A2_000024" "g.17313454G>A" "" "" "" "ATP13A2(NM_001141973.3):c.3069-3C>T, ATP13A2(NM_022089.2):c.3084-3C>T, ATP13A2(NM_022089.4):c.3084-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986959G>A" "" "benign" "" "0000263228" "0" "10" "1" "17313343" "17313343" "subst" "0.4669" "01943" "ATP13A2_000022" "g.17313343G>A" "" "" "" "ATP13A2(NM_001141973.3):c.3177C>T (p.A1059=), ATP13A2(NM_022089.2):c.3192C>T (p.A1064=), ATP13A2(NM_022089.4):c.3192C>T (p.A1064=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986848G>A" "" "benign" "" "0000263229" "0" "30" "1" "17313313" "17313313" "subst" "4.10624E-5" "01943" "ATP13A2_000021" "g.17313313C>T" "" "" "" "ATP13A2(NM_022089.2):c.3222G>A (p.P1074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986818C>T" "" "likely benign" "" "0000263230" "0" "10" "1" "17312743" "17312743" "subst" "0.47141" "01943" "ATP13A2_000011" "g.17312743C>T" "" "" "" "ATP13A2(NM_001141974.3):c.3214G>A (p.A1072T), ATP13A2(NM_022089.2):c.3516G>A (p.P1172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986248C>T" "" "benign" "" "0000263231" "0" "30" "1" "17313283" "17313283" "subst" "0.0221132" "01943" "ATP13A2_000019" "g.17313283C>T" "" "" "" "ATP13A2(NM_022089.2):c.3235+17G>A, ATP13A2(NM_022089.4):c.3235+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986788C>T" "" "likely benign" "" "0000263232" "0" "30" "1" "17313021" "17313021" "subst" "0.00229167" "01943" "ATP13A2_000014" "g.17313021G>A" "" "" "" "ATP13A2(NM_022089.2):c.3342C>T (p.T1114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986526G>A" "" "likely benign" "" "0000263233" "0" "30" "1" "17312596" "17312596" "subst" "0.00350961" "01943" "ATP13A2_000010" "g.17312596T>A" "" "" "" "ATP13A2(NM_001141974.2):c.3361A>T (p.T1121S), ATP13A2(NM_001141974.3):c.3361A>T (p.T1121S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986101T>A" "" "likely benign" "" "0000263234" "0" "30" "1" "17312586" "17312586" "subst" "0.0030474" "01943" "ATP13A2_000008" "g.17312586G>A" "" "" "" "ATP13A2(NM_001141973.1):c.*130C>T (p.(=)), ATP13A2(NM_001141974.2):c.3371C>T (p.P1124L), ATP13A2(NM_001141974.3):c.3371C>T (p.P1124L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986091G>A" "" "likely benign" "" "0000263235" "0" "30" "1" "17331309" "17331309" "subst" "0" "01943" "ATP13A2_000051" "g.17331309G>C" "" "" "" "ATP13A2(NM_022089.2):c.355C>G (p.P119A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17004814G>C" "" "likely benign" "" "0000263236" "0" "10" "1" "17331211" "17331211" "subst" "0.00109266" "01943" "ATP13A2_000050" "g.17331211G>A" "" "" "" "ATP13A2(NM_022089.2):c.453C>T (p.S151=), ATP13A2(NM_022089.4):c.453C>T (p.S151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17004716G>A" "" "benign" "" "0000263237" "0" "30" "1" "17331177" "17331177" "subst" "0" "01943" "ATP13A2_000048" "g.17331177C>T" "" "" "" "ATP13A2(NM_022089.2):c.477+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17004682C>T" "" "likely benign" "" "0000263238" "0" "30" "1" "17326767" "17326767" "subst" "0.0115662" "01943" "ATP13A2_000046" "g.17326767C>T" "" "" "" "ATP13A2(NM_001141973.1):c.866G>A (p.(Arg289Gln)), ATP13A2(NM_022089.2):c.881G>A (p.R294Q), ATP13A2(NM_022089.4):c.881G>A (p.R294Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17000272C>T" "" "likely benign" "" "0000263239" "0" "10" "1" "17326540" "17326540" "subst" "0.0262428" "01943" "ATP13A2_000043" "g.17326540G>A" "" "" "" "ATP13A2(NM_022089.2):c.1005C>T (p.A335=), ATP13A2(NM_022089.4):c.1005C>T (p.A335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17000045G>A" "" "benign" "" "0000337346" "0" "10" "1" "17313454" "17313454" "subst" "0.281109" "02327" "ATP13A2_000024" "g.17313454G>A" "" "" "" "ATP13A2(NM_001141973.3):c.3069-3C>T, ATP13A2(NM_022089.2):c.3084-3C>T, ATP13A2(NM_022089.4):c.3084-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986959G>A" "" "benign" "" "0000337347" "0" "90" "1" "17314730" "17314730" "subst" "0" "02327" "ATP13A2_000054" "g.17314730C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16988235C>T" "" "pathogenic" "" "0000339536" "0" "10" "1" "17312743" "17312743" "subst" "0.47141" "02327" "ATP13A2_000011" "g.17312743C>T" "" "" "" "ATP13A2(NM_001141974.3):c.3214G>A (p.A1072T), ATP13A2(NM_022089.2):c.3516G>A (p.P1172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986248C>T" "" "benign" "" "0000339537" "0" "10" "1" "17313343" "17313343" "subst" "0.4669" "02327" "ATP13A2_000022" "g.17313343G>A" "" "" "" "ATP13A2(NM_001141973.3):c.3177C>T (p.A1059=), ATP13A2(NM_022089.2):c.3192C>T (p.A1064=), ATP13A2(NM_022089.4):c.3192C>T (p.A1064=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16986848G>A" "" "benign" "" "0000339538" "0" "10" "1" "17313654" "17313654" "subst" "0.46696" "02327" "ATP13A2_000025" "g.17313654C>T" "" "" "" "ATP13A2(NM_001141973.3):c.2955G>A (p.V985=), ATP13A2(NM_022089.2):c.2970G>A (p.V990=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16987159C>T" "" "benign" "" "0000339539" "0" "10" "1" "17319011" "17319011" "subst" "0.557607" "02327" "ATP13A2_000056" "g.17319011G>A" "" "" "" "ATP13A2(NM_022089.2):c.1815C>T (p.P605=), ATP13A2(NM_022089.4):c.1815C>T (p.P605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16992516G>A" "" "benign" "" "0000340796" "0" "10" "1" "17314942" "17314942" "subst" "0.464988" "02327" "ATP13A2_000030" "g.17314942G>A" "" "" "" "ATP13A2(NM_001141973.3):c.2622C>T (p.G874=), ATP13A2(NM_022089.2):c.2637C>T (p.G879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16988447G>A" "" "benign" "" "0000340981" "0" "10" "1" "17314702" "17314702" "subst" "0.248812" "02327" "ATP13A2_000026" "g.17314702C>T" "" "" "" "ATP13A2(NM_001141973.3):c.2775G>A (p.S925=), ATP13A2(NM_022089.2):c.2790G>A (p.S930=), ATP13A2(NM_022089.4):c.2790G>A (p.S930=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16988207C>T" "" "benign" "" "0000346314" "0" "50" "1" "17314904" "17314904" "subst" "8.12361E-6" "02327" "ATP13A2_000055" "g.17314904C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16988409C>T" "" "VUS" "" "0000348858" "0" "50" "1" "17326994" "17326994" "subst" "0" "02327" "ATP13A2_000057" "g.17326994G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17000499G>C" "" "VUS" "" "0000504245" "0" "30" "1" "17312558" "17312558" "subst" "3.24702E-5" "01943" "ATP13A2_000058" "g.17312558A>C" "" "" "" "ATP13A2(NM_001141974.2):c.3399T>G (p.V1133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16986063A>C" "" "likely benign" "" "0000504247" "0" "30" "1" "17312558" "17312558" "subst" "0.00188327" "01943" "ATP13A2_000059" "g.17312558A>G" "" "" "" "ATP13A2(NM_001141974.2):c.3399T>C (p.V1133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16986063A>G" "" "likely benign" "" "0000504248" "0" "30" "1" "17312586" "17312586" "subst" "0.0030474" "01804" "ATP13A2_000008" "g.17312586G>A" "" "" "" "ATP13A2(NM_001141973.1):c.*130C>T (p.(=)), ATP13A2(NM_001141974.2):c.3371C>T (p.P1124L), ATP13A2(NM_001141974.3):c.3371C>T (p.P1124L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16986091G>A" "" "likely benign" "" "0000504252" "0" "30" "1" "17313283" "17313283" "subst" "0.0221132" "02329" "ATP13A2_000019" "g.17313283C>T" "" "" "" "ATP13A2(NM_022089.2):c.3235+17G>A, ATP13A2(NM_022089.4):c.3235+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16986788C>T" "" "likely benign" "" "0000504253" "0" "30" "1" "17313458" "17313458" "subst" "4.0664E-6" "01943" "ATP13A2_000060" "g.17313458G>T" "" "" "" "ATP13A2(NM_001141973.2):c.3069-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16986963G>T" "" "likely benign" "" "0000504255" "0" "30" "1" "17314656" "17314656" "subst" "0.000995102" "01943" "ATP13A2_000062" "g.17314656T>A" "" "" "" "ATP13A2(NM_001141973.2):c.2821A>T (p.I941F), ATP13A2(NM_022089.4):c.2836A>T (p.(Ile946Phe), p.I946F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16988161T>A" "" "likely benign" "" "0000504256" "0" "50" "1" "17314656" "17314656" "subst" "0.000995102" "01804" "ATP13A2_000062" "g.17314656T>A" "" "" "" "ATP13A2(NM_001141973.2):c.2821A>T (p.I941F), ATP13A2(NM_022089.4):c.2836A>T (p.(Ile946Phe), p.I946F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16988161T>A" "" "VUS" "" "0000504257" "0" "50" "1" "17314656" "17314656" "subst" "0.000995102" "02325" "ATP13A2_000062" "g.17314656T>A" "" "" "" "ATP13A2(NM_001141973.2):c.2821A>T (p.I941F), ATP13A2(NM_022089.4):c.2836A>T (p.(Ile946Phe), p.I946F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16988161T>A" "" "VUS" "" "0000504258" "0" "30" "1" "17314870" "17314870" "subst" "0.000154326" "02329" "ATP13A2_000063" "g.17314870G>C" "" "" "" "ATP13A2(NM_001141973.3):c.2694C>G (p.V898=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16988375G>C" "" "likely benign" "" "0000504259" "0" "30" "1" "17316730" "17316730" "subst" "0" "02325" "ATP13A2_000064" "g.17316730G>A" "" "" "" "ATP13A2(NM_022089.4):c.2304C>T (p.A768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16990235G>A" "" "likely benign" "" "0000504260" "0" "30" "1" "17316750" "17316750" "subst" "1.63563E-5" "02329" "ATP13A2_000065" "g.17316750G>A" "" "" "" "ATP13A2(NM_022089.4):c.2284C>T (p.R762W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16990255G>A" "" "likely benign" "" "0000504261" "0" "30" "1" "17318329" "17318329" "subst" "0.000454944" "01943" "ATP13A2_000066" "g.17318329G>A" "" "" "" "ATP13A2(NM_001141973.2):c.2136C>T (p.S712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16991834G>A" "" "likely benign" "" "0000504262" "0" "30" "1" "17318512" "17318512" "subst" "8.14273E-6" "01943" "ATP13A2_000067" "g.17318512T>C" "" "" "" "ATP13A2(NM_001141973.2):c.2103A>G (p.Q701=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16992017T>C" "" "likely benign" "" "0000504263" "0" "30" "1" "17318817" "17318817" "subst" "0.000329416" "01943" "ATP13A2_000068" "g.17318817C>T" "" "" "" "ATP13A2(NM_001141973.2):c.1911G>A (p.A637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16992322C>T" "" "likely benign" "" "0000504264" "0" "10" "1" "17319011" "17319011" "subst" "0.557607" "01943" "ATP13A2_000056" "g.17319011G>A" "" "" "" "ATP13A2(NM_022089.2):c.1815C>T (p.P605=), ATP13A2(NM_022089.4):c.1815C>T (p.P605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16992516G>A" "" "benign" "" "0000504265" "0" "10" "1" "17319011" "17319011" "subst" "0.557607" "02329" "ATP13A2_000056" "g.17319011G>A" "" "" "" "ATP13A2(NM_022089.2):c.1815C>T (p.P605=), ATP13A2(NM_022089.4):c.1815C>T (p.P605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16992516G>A" "" "benign" "" "0000504266" "0" "30" "1" "17320185" "17320185" "subst" "0.000525942" "01943" "ATP13A2_000069" "g.17320185C>T" "" "" "" "ATP13A2(NM_001141973.2):c.1673G>A (p.R558Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16993690C>T" "" "likely benign" "" "0000504267" "0" "30" "1" "17322741" "17322741" "subst" "5.68736E-5" "01943" "ATP13A2_000070" "g.17322741A>G" "" "" "" "ATP13A2(NM_022089.2):c.1353+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16996246A>G" "" "likely benign" "" "0000504268" "0" "50" "1" "17322751" "17322751" "subst" "4.46835E-5" "01943" "ATP13A2_000071" "g.17322751G>A" "" "" "" "ATP13A2(NM_001141973.2):c.1336C>T (p.R446W), ATP13A2(NM_022089.4):c.1351C>T (p.(Arg451Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16996256G>A" "" "VUS" "" "0000504269" "0" "30" "1" "17322776" "17322776" "subst" "4.06197E-6" "02329" "ATP13A2_000072" "g.17322776G>A" "" "" "" "ATP13A2(NM_022089.4):c.1326C>T (p.Y442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16996281G>A" "" "likely benign" "" "0000504270" "0" "50" "1" "17322917" "17322917" "subst" "0" "01804" "ATP13A2_000073" "g.17322917G>C" "" "" "" "ATP13A2(NM_001141973.1):c.1255C>G (p.(His419Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16996422G>C" "" "VUS" "" "0000504271" "0" "30" "1" "17323506" "17323506" "subst" "0.00441845" "01943" "ATP13A2_000074" "g.17323506G>A" "" "" "" "ATP13A2(NM_001141973.2):c.1180+9C>T, ATP13A2(NM_022089.4):c.1195+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16997011G>A" "" "likely benign" "" "0000504272" "0" "30" "1" "17326594" "17326594" "subst" "0.00077728" "01943" "ATP13A2_000075" "g.17326594G>A" "" "" "" "ATP13A2(NM_022089.2):c.951C>T (p.C317=), ATP13A2(NM_022089.4):c.951C>T (p.C317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17000099G>A" "" "likely benign" "" "0000504273" "0" "30" "1" "17326594" "17326594" "subst" "0.00077728" "02325" "ATP13A2_000075" "g.17326594G>A" "" "" "" "ATP13A2(NM_022089.2):c.951C>T (p.C317=), ATP13A2(NM_022089.4):c.951C>T (p.C317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17000099G>A" "" "likely benign" "" "0000504274" "0" "30" "1" "17326767" "17326767" "subst" "0.0115662" "01804" "ATP13A2_000046" "g.17326767C>T" "" "" "" "ATP13A2(NM_001141973.1):c.866G>A (p.(Arg289Gln)), ATP13A2(NM_022089.2):c.881G>A (p.R294Q), ATP13A2(NM_022089.4):c.881G>A (p.R294Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17000272C>T" "" "likely benign" "" "0000504275" "0" "30" "1" "17326767" "17326767" "subst" "0.0115662" "02329" "ATP13A2_000046" "g.17326767C>T" "" "" "" "ATP13A2(NM_001141973.1):c.866G>A (p.(Arg289Gln)), ATP13A2(NM_022089.2):c.881G>A (p.R294Q), ATP13A2(NM_022089.4):c.881G>A (p.R294Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17000272C>T" "" "likely benign" "" "0000504276" "0" "10" "1" "17331676" "17331676" "subst" "0" "02329" "ATP13A2_000076" "g.17331676A>G" "" "" "" "ATP13A2(NM_022089.4):c.289-109T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17005181A>G" "" "benign" "" "0000504277" "0" "50" "1" "17331913" "17331913" "subst" "0" "01943" "ATP13A2_000077" "g.17331913G>T" "" "" "" "ATP13A2(NM_022089.2):c.244C>A (p.L82M), ATP13A2(NM_022089.4):c.244C>A (p.L82M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17005418G>T" "" "VUS" "" "0000504278" "0" "30" "1" "17331913" "17331913" "subst" "0" "02325" "ATP13A2_000077" "g.17331913G>T" "" "" "" "ATP13A2(NM_022089.2):c.244C>A (p.L82M), ATP13A2(NM_022089.4):c.244C>A (p.L82M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17005418G>T" "" "likely benign" "" "0000504279" "0" "30" "1" "17331913" "17331913" "subst" "0" "02329" "ATP13A2_000077" "g.17331913G>T" "" "" "" "ATP13A2(NM_022089.2):c.244C>A (p.L82M), ATP13A2(NM_022089.4):c.244C>A (p.L82M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17005418G>T" "" "likely benign" "" "0000504280" "0" "30" "1" "17332025" "17332025" "subst" "0.00455609" "01943" "ATP13A2_000078" "g.17332025T>C" "" "" "" "ATP13A2(NM_001141973.2):c.132A>G (p.P44=), ATP13A2(NM_022089.4):c.132A>G (p.P44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17005530T>C" "" "likely benign" "" "0000504281" "0" "30" "1" "17332025" "17332025" "subst" "0.00455609" "02325" "ATP13A2_000078" "g.17332025T>C" "" "" "" "ATP13A2(NM_001141973.2):c.132A>G (p.P44=), ATP13A2(NM_022089.4):c.132A>G (p.P44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17005530T>C" "" "likely benign" "" "0000504282" "0" "50" "1" "17332249" "17332249" "subst" "8.2916E-5" "01943" "ATP13A2_000079" "g.17332249G>A" "" "" "" "ATP13A2(NM_001141973.2):c.35C>T (p.T12M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17005754G>A" "" "VUS" "" "0000604988" "0" "30" "1" "17312786" "17312786" "subst" "0.000181458" "01804" "ATP13A2_000080" "g.17312786C>T" "" "" "" "ATP13A2(NM_001141973.1):c.3458G>A (p.(Arg1153His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16986291C>T" "" "likely benign" "" "0000604989" "0" "50" "1" "17312811" "17312811" "subst" "3.60925E-5" "02325" "ATP13A2_000081" "g.17312811G>A" "" "" "" "ATP13A2(NM_001141973.3):c.3433C>T (p.R1145W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16986316G>A" "" "VUS" "" "0000604990" "0" "50" "1" "17313682" "17313682" "subst" "0.000204454" "01943" "ATP13A2_000083" "g.17313682G>A" "" "" "" "ATP13A2(NM_001141973.2):c.2927C>T (p.T976M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16987187G>A" "" "VUS" "" "0000604991" "0" "30" "1" "17322477" "17322477" "subst" "0.00116312" "01943" "ATP13A2_000086" "g.17322477G>A" "" "" "" "ATP13A2(NM_001141973.2):c.1521C>T (p.F507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16995982G>A" "" "likely benign" "" "0000604992" "0" "50" "1" "17331185" "17331185" "subst" "6.09479E-5" "02325" "ATP13A2_000049" "g.17331185A>C" "" "" "" "ATP13A2(NM_001141973.3):c.462+17T>G, ATP13A2(NM_022089.2):c.477+2T>G, ATP13A2(NM_022089.4):c.477+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17004690A>C" "" "VUS" "" "0000620438" "0" "30" "1" "17313594" "17313594" "subst" "1.23063E-5" "01943" "ATP13A2_000082" "g.17313594G>A" "" "" "" "ATP13A2(NM_001141973.2):c.3015C>T (p.V1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16987099G>A" "" "likely benign" "" "0000620439" "0" "30" "1" "17316708" "17316708" "subst" "2.84995E-5" "02329" "ATP13A2_000084" "g.17316708C>G" "" "" "" "ATP13A2(NM_022089.4):c.2326G>C (p.V776L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16990213C>G" "" "likely benign" "" "0000620440" "0" "50" "1" "17320300" "17320300" "subst" "0" "01943" "ATP13A2_000085" "g.17320300C>T" "" "" "" "ATP13A2(NM_001141973.2):c.1558G>A (p.V520M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16993805C>T" "" "VUS" "" "0000647450" "1" "10" "1" "17312592" "17312592" "subst" "0.0400496" "03575" "ATP13A2_000009" "g.17312592G>A" "43/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "43 heterozygous; {DB:CLININrs15786}" "Germline" "" "rs15786" "0" "" "" "g.16986097G>A" "" "benign" "" "0000647451" "1" "50" "1" "17313652" "17313652" "subst" "0.0001353" "03575" "ATP13A2_000087" "g.17313652C>T" "1/2785 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs145548316}" "Germline" "" "rs145548316" "0" "" "" "g.16987157C>T" "" "VUS" "" "0000647452" "1" "30" "1" "17318282" "17318282" "subst" "0.000345251" "03575" "ATP13A2_000088" "g.17318282G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs201883464}" "Germline" "" "rs201883464" "0" "" "" "g.16991787G>A" "" "likely benign" "" "0000647453" "1" "30" "1" "17326540" "17326540" "subst" "0.0262428" "03575" "ATP13A2_000043" "g.17326540G>A" "73/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "73 heterozygous; {DB:CLININrs56290406}" "Germline" "" "rs56290406" "0" "" "" "g.17000045G>A" "" "likely benign" "" "0000647454" "1" "10" "1" "17326767" "17326767" "subst" "0.0115662" "03575" "ATP13A2_000046" "g.17326767C>T" "28/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "28 heterozygous, no homozygous; {DB:CLININrs56367069}" "Germline" "" "rs56367069" "0" "" "" "g.17000272C>T" "" "benign" "" "0000653810" "0" "30" "1" "17312663" "17312663" "subst" "0" "01943" "ATP13A2_000089" "g.17312663T>G" "" "" "" "ATP13A2(NM_001141974.2):c.3294A>C (p.Q1098H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16986168T>G" "" "likely benign" "" "0000668979" "3" "10" "1" "17312592" "17312592" "subst" "0.0400496" "03575" "ATP13A2_000009" "g.17312592G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs15786}" "Germline" "" "rs15786" "0" "" "" "g.16986097G>A" "" "benign" "" "0000668980" "3" "30" "1" "17326540" "17326540" "subst" "0.0262428" "03575" "ATP13A2_000043" "g.17326540G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs56290406}" "Germline" "" "rs56290406" "0" "" "" "g.17000045G>A" "" "likely benign" "" "0000675541" "0" "30" "1" "17338227" "17338227" "subst" "1.21987E-5" "01943" "ATP13A2_000090" "g.17338227C>T" "" "" "" "ATP13A2(NM_001141973.2):c.7G>A (p.A3T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683461" "3" "70" "1" "17313610" "17313611" "del" "0" "03765" "ATP13A2_000091" "g.17313610_17313611del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000687943" "0" "50" "1" "17318282" "17318282" "subst" "0.000345251" "01943" "ATP13A2_000088" "g.17318282G>A" "" "" "" "ATP13A2(NM_001141973.2):c.2183C>T (p.T728M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716987" "0" "30" "1" "17312777" "17312777" "subst" "0" "01943" "ATP13A2_000092" "g.17312777T>C" "" "" "" "ATP13A2(NM_001141973.2):c.3467A>G (p.Q1156R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716988" "0" "90" "1" "17313112" "17313112" "del" "0" "02329" "ATP13A2_000002" "g.17313112del" "" "" "" "ATP13A2(NM_001141973.3):c.3238delC (p.L1080Wfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716989" "0" "30" "1" "17322788" "17322788" "subst" "2.84324E-5" "01943" "ATP13A2_000093" "g.17322788G>T" "" "" "" "ATP13A2(NM_001141973.2):c.1299C>A (p.L433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716990" "0" "30" "1" "17322984" "17322984" "subst" "0.000349784" "01943" "ATP13A2_000039" "g.17322984G>A" "" "" "" "ATP13A2(NM_001141973.2):c.1188C>T (p.C396=), ATP13A2(NM_022089.4):c.1203C>T (p.C401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716991" "0" "90" "1" "17326605" "17326605" "del" "0" "02329" "ATP13A2_000044" "g.17326605del" "" "" "" "ATP13A2(NM_001141973.3):c.927delC (p.G310Efs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000787211" "1" "50" "1" "17320317" "17320317" "subst" "0" "00006" "ATP13A2_000095" "g.17320317G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.16993822G>A" "" "VUS" "" "0000787564" "2" "50" "1" "17316471" "17316471" "subst" "0" "00000" "ATP13A2_000094" "g.17316471C>T" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.16989976C>T" "" "VUS" "" "0000798906" "0" "30" "1" "17320239" "17320239" "subst" "0" "01943" "ATP13A2_000096" "g.17320239C>T" "" "" "" "ATP13A2(NM_001141973.2):c.1619G>A (p.R540H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798907" "0" "30" "1" "17326989" "17326989" "subst" "0.00071593" "01943" "ATP13A2_000097" "g.17326989G>A" "" "" "" "ATP13A2(NM_001141973.2):c.731C>T (p.A244V), ATP13A2(NM_022089.4):c.746C>T (p.(Ala249Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798908" "0" "30" "1" "17328831" "17328831" "subst" "3.30838E-5" "01943" "ATP13A2_000098" "g.17328831G>A" "" "" "" "ATP13A2(NM_001141973.2):c.580C>T (p.R194C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798909" "0" "30" "1" "17331924" "17331924" "subst" "3.72859E-5" "01943" "ATP13A2_000099" "g.17331924C>T" "" "" "" "ATP13A2(NM_001141973.2):c.233G>A (p.R78Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848393" "0" "30" "1" "17313681" "17313681" "subst" "8.17942E-6" "01943" "ATP13A2_000100" "g.17313681C>T" "" "" "" "ATP13A2(NM_001141973.2):c.2928G>A (p.T976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848394" "0" "50" "1" "17328578" "17328578" "subst" "2.04022E-5" "01943" "ATP13A2_000102" "g.17328578T>C" "" "" "" "ATP13A2(NM_001141973.2):c.641A>G (p.N214S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857137" "0" "30" "1" "17313448" "17313448" "subst" "0.000719571" "01943" "ATP13A2_000023" "g.17313448G>A" "" "" "" "ATP13A2(NM_001141973.2):c.3072C>T (p.F1024=), ATP13A2(NM_022089.4):c.3087C>T (p.F1029=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857138" "0" "50" "1" "17323599" "17323599" "subst" "1.62655E-5" "01943" "ATP13A2_000101" "g.17323599G>A" "" "" "" "ATP13A2(NM_001141973.2):c.1096C>T (p.R366W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882935" "0" "30" "1" "17323506" "17323506" "subst" "0.00441845" "02326" "ATP13A2_000074" "g.17323506G>A" "" "" "" "ATP13A2(NM_001141973.2):c.1180+9C>T, ATP13A2(NM_022089.4):c.1195+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910841" "0" "30" "1" "17320259" "17320259" "subst" "0.00345407" "02326" "ATP13A2_000036" "g.17320259G>A" "" "" "" "ATP13A2(NM_022089.2):c.1614C>T (p.P538=), ATP13A2(NM_022089.4):c.1614C>T (p.P538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928064" "0" "30" "1" "17314633" "17314633" "subst" "0.00103635" "02326" "ATP13A2_000103" "g.17314633C>T" "" "" "" "ATP13A2(NM_022089.4):c.2859G>A (p.T953=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960643" "0" "30" "1" "17314656" "17314656" "subst" "0.000995102" "02327" "ATP13A2_000062" "g.17314656T>A" "" "" "" "ATP13A2(NM_001141973.2):c.2821A>T (p.I941F), ATP13A2(NM_022089.4):c.2836A>T (p.(Ile946Phe), p.I946F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973463" "0" "50" "1" "17316489" "17316489" "subst" "1.25426E-5" "01804" "ATP13A2_000104" "g.17316489G>C" "" "" "" "ATP13A2(NM_022089.4):c.2422C>G (p.(Gln808Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973464" "0" "50" "1" "17322751" "17322751" "subst" "4.46835E-5" "01804" "ATP13A2_000071" "g.17322751G>A" "" "" "" "ATP13A2(NM_001141973.2):c.1336C>T (p.R446W), ATP13A2(NM_022089.4):c.1351C>T (p.(Arg451Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973465" "0" "70" "1" "17331185" "17331185" "subst" "6.09479E-5" "01804" "ATP13A2_000049" "g.17331185A>C" "" "" "" "ATP13A2(NM_001141973.3):c.462+17T>G, ATP13A2(NM_022089.2):c.477+2T>G, ATP13A2(NM_022089.4):c.477+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000990555" "0" "30" "1" "17318746" "17318746" "subst" "0" "01804" "ATP13A2_000105" "g.17318746G>A" "" "" "" "ATP13A2(NM_022089.2):c.1997C>T (p.(Thr666Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990556" "0" "50" "1" "17320242" "17320242" "subst" "0" "01804" "ATP13A2_000106" "g.17320242C>T" "" "" "" "ATP13A2(NM_001141974.1):c.1616G>A (p.(Arg539His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031482" "0" "50" "1" "17322515" "17322515" "subst" "0" "01804" "ATP13A2_000107" "g.17322515G>A" "" "" "" "ATP13A2(NM_022089.4):c.1498C>T (p.(Arg500Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031483" "0" "50" "1" "17326989" "17326989" "subst" "0.00071593" "01804" "ATP13A2_000097" "g.17326989G>A" "" "" "" "ATP13A2(NM_001141973.2):c.731C>T (p.A244V), ATP13A2(NM_022089.4):c.746C>T (p.(Ala249Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045039" "3" "90" "1" "17316246" "17316256" "del" "0" "04851" "ATP13A2_000108" "g.17316246_17316256del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16989751_16989761del" "" "pathogenic (recessive)" "ACMG" "0001049959" "0" "50" "1" "17314716" "17314720" "dup" "0" "01804" "ATP13A2_000109" "g.17314716_17314720dup" "" "" "" "ATP13A2(NM_022089.4):c.2773_2777dup (p.(Leu927Valfs*18))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049960" "0" "50" "1" "17314721" "17314721" "subst" "4.46711E-5" "01804" "ATP13A2_000110" "g.17314721C>T" "" "" "" "ATP13A2(NM_022089.4):c.2771G>A (p.(Arg924His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049961" "0" "50" "1" "17323655" "17323655" "subst" "0" "01804" "ATP13A2_000111" "g.17323655A>G" "" "" "" "ATP13A2(NM_022089.4):c.1055T>C (p.(Val352Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058463" "0" "90" "1" "17313567" "17313567" "del" "0.000139433" "00006" "ATP13A2_000112" "g.17313567del" "" "{PMID:Retterer 2016:26633542}" "" "3057delC" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.16987072del" "" "pathogenic" "" "0001060820" "0" "70" "1" "17316266" "17316266" "subst" "0" "00006" "ATP13A2_000113" "g.17316266C>G" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1, PM2; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.16989771C>G" "" "likely pathogenic" "ACMG" "0001062984" "0" "50" "1" "17312769" "17312769" "subst" "0" "01804" "ATP13A2_000114" "g.17312769G>A" "" "" "" "ATP13A2(NM_022089.4):c.3490C>T (p.(Arg1164*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069266" "3" "50" "1" "17313374" "17313374" "subst" "0" "00006" "ATP13A2_000115" "g.17313374G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.16986879G>A" "SCV006074719.1" "VUS" "ACMG" "0001069647" "3" "50" "1" "17313725" "17313725" "subst" "0" "00006" "ATP13A2_000116" "g.17313725C>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PM3_sup, PP3" "Germline" "" "" "0" "" "" "g.16987230C>G" "SCV006074720.1" "VUS" "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 ATP13A2 ## Count = 169 "{{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}}" "0000021295" "00003144" "70" "2543" "0" "2543" "0" "c.2543G>A" "r.(?)" "p.(Gly848Asp)" "23" "0000166304" "00003144" "70" "3176" "0" "3176" "0" "c.3176T>G" "r.(?)" "p.(Leu1059Arg)" "27" "0000166305" "00003144" "70" "3176" "0" "3176" "0" "c.3176T>G" "r.(?)" "p.(Leu1059Arg)" "27" "0000166306" "00003144" "70" "3253" "0" "3253" "0" "c.3253del" "r.(?)" "p.(Leu1085Trpfs*4)" "28" "0000166307" "00003144" "70" "3253" "0" "3253" "0" "c.3253del" "r.(?)" "p.(Leu1085Trpfs*4)" "28" "0000170441" "00003144" "90" "2561" "0" "2561" "0" "c.2561T>G" "r.(?)" "p.(Met854Arg)" "22" "0000255373" "00003144" "70" "477" "2" "477" "2" "c.477+2T>G" "r.spl?" "p.?" "" "0000259173" "00003144" "10" "2790" "0" "2790" "0" "c.2790G>A" "r.(?)" "p.(Ser930=)" "" "0000259174" "00003144" "10" "3084" "-3" "3084" "-3" "c.3084-3C>T" "r.spl?" "p.?" "" "0000259175" "00003144" "10" "3192" "0" "3192" "0" "c.3192C>T" "r.(?)" "p.(Ala1064=)" "" "0000259176" "00003144" "10" "3516" "0" "3516" "0" "c.3516G>A" "r.(?)" "p.(Pro1172=)" "" "0000259177" "00003144" "10" "3235" "44" "3235" "55" "c.3235+44_3235+55del" "r.(=)" "p.(=)" "" "0000259178" "00003144" "10" "3236" "-30" "3236" "-30" "c.3236-30C>T" "r.(=)" "p.(=)" "" "0000259531" "00003144" "30" "3786" "0" "3786" "0" "c.*243A>C" "r.(=)" "p.(=)" "" "0000259532" "00003144" "30" "106" "-8" "106" "-8" "c.106-8G>A" "r.(=)" "p.(=)" "" "0000259533" "00003144" "30" "1195" "10" "1195" "10" "c.1195+10G>A" "r.(=)" "p.(=)" "" "0000259534" "00003144" "30" "1203" "0" "1203" "0" "c.1203C>T" "r.(?)" "p.(Cys401=)" "" "0000259535" "00003144" "30" "1572" "0" "1572" "0" "c.1572C>T" "r.(?)" "p.(Asp524=)" "" "0000259536" "00003144" "30" "1614" "0" "1614" "0" "c.1614C>T" "r.(?)" "p.(Pro538=)" "" "0000259537" "00003144" "30" "1956" "0" "1956" "0" "c.1956C>T" "r.(?)" "p.(Tyr652=)" "" "0000259538" "00003144" "30" "2013" "0" "2013" "0" "c.2013C>T" "r.(?)" "p.(Thr671=)" "" "0000259539" "00003144" "30" "3087" "0" "3087" "0" "c.3087C>T" "r.(?)" "p.(Phe1029=)" "" "0000259540" "00003144" "30" "3235" "16" "3235" "16" "c.3235+16C>G" "r.(=)" "p.(=)" "" "0000259541" "00003144" "30" "3258" "0" "3258" "0" "c.3258G>A" "r.(?)" "p.(Ala1086=)" "" "0000259542" "00003144" "30" "3663" "0" "3663" "0" "c.*120A>T" "r.(=)" "p.(=)" "" "0000259543" "00003144" "30" "3363" "0" "3363" "0" "c.3363G>A" "r.(?)" "p.(Leu1121=)" "" "0000259544" "00003144" "30" "3673" "0" "3673" "0" "c.*130C>T" "r.(=)" "p.(=)" "" "0000259545" "00003144" "30" "635" "15" "635" "15" "c.635+15G>A" "r.(=)" "p.(=)" "" "0000259694" "00003144" "50" "3409" "0" "3409" "0" "c.3409G>A" "r.(?)" "p.(Val1137Met)" "" "0000259695" "00003144" "50" "3733" "0" "3733" "0" "c.*190G>A" "r.(=)" "p.(=)" "" "0000260230" "00003144" "10" "-227" "0" "-227" "0" "c.-227C>T" "r.(?)" "p.(=)" "" "0000260231" "00003144" "10" "1195" "10" "1195" "10" "c.1195+10G>A" "r.(=)" "p.(=)" "" "0000260232" "00003144" "10" "1195" "66" "1195" "66" "c.1195+66A>G" "r.(=)" "p.(=)" "" "0000260233" "00003144" "10" "2637" "0" "2637" "0" "c.2637C>T" "r.(?)" "p.(Gly879=)" "" "0000260234" "00003144" "10" "2790" "0" "2790" "0" "c.2790G>A" "r.(?)" "p.(Ser930=)" "" "0000260235" "00003144" "10" "2970" "0" "2970" "0" "c.2970G>A" "r.(?)" "p.(Val990=)" "" "0000260236" "00003144" "10" "3084" "-3" "3084" "-3" "c.3084-3C>T" "r.spl?" "p.?" "" "0000260237" "00003144" "10" "3192" "0" "3192" "0" "c.3192C>T" "r.(?)" "p.(Ala1064=)" "" "0000260238" "00003144" "10" "3516" "0" "3516" "0" "c.3516G>A" "r.(?)" "p.(Pro1172=)" "" "0000260239" "00003144" "30" "3235" "44" "3235" "55" "c.3235+44_3235+55del" "r.(=)" "p.(=)" "" "0000260240" "00003144" "30" "3663" "0" "3663" "0" "c.*120A>T" "r.(=)" "p.(=)" "" "0000260241" "00003144" "10" "3667" "0" "3667" "0" "c.*124C>T" "r.(=)" "p.(=)" "" "0000260242" "00003144" "30" "453" "0" "453" "0" "c.453C>T" "r.(?)" "p.(Ser151=)" "" "0000260243" "00003144" "30" "907" "15" "907" "18" "c.907+15_907+18del" "r.(=)" "p.(=)" "" "0000260244" "00003144" "10" "1005" "0" "1005" "0" "c.1005C>T" "r.(?)" "p.(Ala335=)" "" "0000263213" "00003144" "30" "106" "-8" "106" "-8" "c.106-8G>A" "r.(=)" "p.(=)" "" "0000263214" "00003144" "30" "1080" "0" "1080" "0" "c.1080G>C" "r.(?)" "p.(Gly360=)" "" "0000263215" "00003144" "30" "1195" "10" "1195" "10" "c.1195+10G>A" "r.(=)" "p.(=)" "" "0000263216" "00003144" "30" "1309" "0" "1309" "0" "c.1309C>G" "r.(?)" "p.(Leu437Val)" "" "0000263217" "00003144" "30" "1614" "0" "1614" "0" "c.1614C>T" "r.(?)" "p.(Pro538=)" "" "0000263218" "00003144" "50" "2263" "0" "2263" "0" "c.2263C>G" "r.(?)" "p.(Gln755Glu)" "" "0000263219" "00003144" "30" "2556" "0" "2556" "0" "c.2556C>T" "r.(?)" "p.(Ala852=)" "" "0000263220" "00003144" "90" "2629" "0" "2629" "0" "c.2629G>A" "r.(?)" "p.(Gly877Arg)" "" "0000263221" "00003144" "10" "2637" "0" "2637" "0" "c.2637C>T" "r.(?)" "p.(Gly879=)" "" "0000263222" "00003144" "50" "2699" "0" "2699" "0" "c.2699C>T" "r.(?)" "p.(Ala900Val)" "" "0000263223" "00003144" "10" "2724" "0" "2724" "0" "c.2724G>A" "r.(?)" "p.(Ser908=)" "" "0000263224" "00003144" "30" "2745" "0" "2745" "0" "c.2745C>T" "r.(?)" "p.(Cys915=)" "" "0000263225" "00003144" "10" "2790" "0" "2790" "0" "c.2790G>A" "r.(?)" "p.(Ser930=)" "" "0000263226" "00003144" "10" "2970" "0" "2970" "0" "c.2970G>A" "r.(?)" "p.(Val990=)" "" "0000263227" "00003144" "10" "3084" "-3" "3084" "-3" "c.3084-3C>T" "r.spl?" "p.?" "" "0000263228" "00003144" "10" "3192" "0" "3192" "0" "c.3192C>T" "r.(?)" "p.(Ala1064=)" "" "0000263229" "00003144" "30" "3222" "0" "3222" "0" "c.3222G>A" "r.(?)" "p.(Pro1074=)" "" "0000263230" "00003144" "10" "3516" "0" "3516" "0" "c.3516G>A" "r.(?)" "p.(Pro1172=)" "" "0000263231" "00003144" "30" "3235" "17" "3235" "17" "c.3235+17G>A" "r.(=)" "p.(=)" "" "0000263232" "00003144" "30" "3342" "0" "3342" "0" "c.3342C>T" "r.(?)" "p.(Thr1114=)" "" "0000263233" "00003144" "30" "3663" "0" "3663" "0" "c.*120A>T" "r.(=)" "p.(=)" "" "0000263234" "00003144" "30" "3673" "0" "3673" "0" "c.*130C>T" "r.(=)" "p.(=)" "" "0000263235" "00003144" "30" "355" "0" "355" "0" "c.355C>G" "r.(?)" "p.(Pro119Ala)" "" "0000263236" "00003144" "10" "453" "0" "453" "0" "c.453C>T" "r.(?)" "p.(Ser151=)" "" "0000263237" "00003144" "30" "477" "10" "477" "10" "c.477+10G>A" "r.(=)" "p.(=)" "" "0000263238" "00003144" "30" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294Gln)" "" "0000263239" "00003144" "10" "1005" "0" "1005" "0" "c.1005C>T" "r.(?)" "p.(Ala335=)" "" "0000337346" "00003144" "10" "3084" "-3" "3084" "-3" "c.3084-3C>T" "r.spl?" "p.?" "" "0000337347" "00003144" "90" "2763" "-1" "2763" "-1" "c.2763-1G>A" "r.spl?" "p.?" "" "0000339536" "00003144" "10" "3516" "0" "3516" "0" "c.3516G>A" "r.(?)" "p.(Pro1172=)" "" "0000339537" "00003144" "10" "3192" "0" "3192" "0" "c.3192C>T" "r.(?)" "p.(Ala1064=)" "" "0000339538" "00003144" "10" "2970" "0" "2970" "0" "c.2970G>A" "r.(?)" "p.(Val990=)" "" "0000339539" "00003144" "10" "1815" "0" "1815" "0" "c.1815C>T" "r.(?)" "p.(Pro605=)" "" "0000340796" "00003144" "10" "2637" "0" "2637" "0" "c.2637C>T" "r.(?)" "p.(Gly879=)" "" "0000340981" "00003144" "10" "2790" "0" "2790" "0" "c.2790G>A" "r.(?)" "p.(Ser930=)" "" "0000346314" "00003144" "50" "2675" "0" "2675" "0" "c.2675G>A" "r.(?)" "p.(Gly892Asp)" "" "0000348858" "00003144" "50" "741" "0" "741" "0" "c.741C>G" "r.(?)" "p.(Ser247Arg)" "" "0000504245" "00003144" "30" "3701" "0" "3701" "0" "c.*158T>G" "r.(=)" "p.(=)" "" "0000504247" "00003144" "30" "3701" "0" "3701" "0" "c.*158T>C" "r.(=)" "p.(=)" "" "0000504248" "00003144" "30" "3673" "0" "3673" "0" "c.*130C>T" "r.(=)" "p.(=)" "" "0000504252" "00003144" "30" "3235" "17" "3235" "17" "c.3235+17G>A" "r.(=)" "p.(=)" "" "0000504253" "00003144" "30" "3084" "-7" "3084" "-7" "c.3084-7C>A" "r.(=)" "p.(=)" "" "0000504255" "00003144" "30" "2836" "0" "2836" "0" "c.2836A>T" "r.(?)" "p.(Ile946Phe)" "" "0000504256" "00003144" "50" "2836" "0" "2836" "0" "c.2836A>T" "r.(?)" "p.(Ile946Phe)" "" "0000504257" "00003144" "50" "2836" "0" "2836" "0" "c.2836A>T" "r.(?)" "p.(Ile946Phe)" "" "0000504258" "00003144" "30" "2709" "0" "2709" "0" "c.2709C>G" "r.(?)" "p.(Val903=)" "" "0000504259" "00003144" "30" "2304" "0" "2304" "0" "c.2304C>T" "r.(?)" "p.(Ala768=)" "" "0000504260" "00003144" "30" "2284" "0" "2284" "0" "c.2284C>T" "r.(?)" "p.(Arg762Trp)" "" "0000504261" "00003144" "30" "2151" "0" "2151" "0" "c.2151C>T" "r.(?)" "p.(Ser717=)" "" "0000504262" "00003144" "30" "2118" "0" "2118" "0" "c.2118A>G" "r.(?)" "p.(Gln706=)" "" "0000504263" "00003144" "30" "1926" "0" "1926" "0" "c.1926G>A" "r.(?)" "p.(Ala642=)" "" "0000504264" "00003144" "10" "1815" "0" "1815" "0" "c.1815C>T" "r.(?)" "p.(Pro605=)" "" "0000504265" "00003144" "10" "1815" "0" "1815" "0" "c.1815C>T" "r.(?)" "p.(Pro605=)" "" "0000504266" "00003144" "30" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563Gln)" "" "0000504267" "00003144" "30" "1353" "8" "1353" "8" "c.1353+8T>C" "r.(=)" "p.(=)" "" "0000504268" "00003144" "50" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451Trp)" "" "0000504269" "00003144" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(Tyr442=)" "" "0000504270" "00003144" "50" "1270" "0" "1270" "0" "c.1270C>G" "r.(?)" "p.(His424Asp)" "" "0000504271" "00003144" "30" "1195" "9" "1195" "9" "c.1195+9C>T" "r.(=)" "p.(=)" "" "0000504272" "00003144" "30" "951" "0" "951" "0" "c.951C>T" "r.(?)" "p.(Cys317=)" "" "0000504273" "00003144" "30" "951" "0" "951" "0" "c.951C>T" "r.(?)" "p.(Cys317=)" "" "0000504274" "00003144" "30" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294Gln)" "" "0000504275" "00003144" "30" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294Gln)" "" "0000504276" "00003144" "10" "289" "-109" "289" "-109" "c.289-109T>C" "r.(=)" "p.(=)" "" "0000504277" "00003144" "50" "244" "0" "244" "0" "c.244C>A" "r.(?)" "p.(Leu82Met)" "" "0000504278" "00003144" "30" "244" "0" "244" "0" "c.244C>A" "r.(?)" "p.(Leu82Met)" "" "0000504279" "00003144" "30" "244" "0" "244" "0" "c.244C>A" "r.(?)" "p.(Leu82Met)" "" "0000504280" "00003144" "30" "132" "0" "132" "0" "c.132A>G" "r.(?)" "p.(Pro44=)" "" "0000504281" "00003144" "30" "132" "0" "132" "0" "c.132A>G" "r.(?)" "p.(Pro44=)" "" "0000504282" "00003144" "50" "35" "0" "35" "0" "c.35C>T" "r.(?)" "p.(Thr12Met)" "" "0000604988" "00003144" "30" "3473" "0" "3473" "0" "c.3473G>A" "r.(?)" "p.(Arg1158His)" "" "0000604989" "00003144" "50" "3448" "0" "3448" "0" "c.3448C>T" "r.(?)" "p.(Arg1150Trp)" "" "0000604990" "00003144" "50" "2942" "0" "2942" "0" "c.2942C>T" "r.(?)" "p.(Thr981Met)" "" "0000604991" "00003144" "30" "1536" "0" "1536" "0" "c.1536C>T" "r.(?)" "p.(Phe512=)" "" "0000604992" "00003144" "50" "477" "2" "477" "2" "c.477+2T>G" "r.spl?" "p.?" "" "0000620438" "00003144" "30" "3030" "0" "3030" "0" "c.3030C>T" "r.(?)" "p.(Val1010=)" "" "0000620439" "00003144" "30" "2326" "0" "2326" "0" "c.2326G>C" "r.(?)" "p.(Val776Leu)" "" "0000620440" "00003144" "50" "1573" "0" "1573" "0" "c.1573G>A" "r.(?)" "p.(Val525Met)" "" "0000647450" "00003144" "10" "3667" "0" "3667" "0" "c.*124C>T" "r.(=)" "p.(=)" "" "0000647451" "00003144" "50" "2972" "0" "2972" "0" "c.2972G>A" "r.(?)" "p.(Arg991Gln)" "" "0000647452" "00003144" "30" "2198" "0" "2198" "0" "c.2198C>T" "r.(?)" "p.(Thr733Met)" "" "0000647453" "00003144" "30" "1005" "0" "1005" "0" "c.1005C>T" "r.(=)" "p.(=)" "" "0000647454" "00003144" "10" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294Gln)" "" "0000653810" "00003144" "30" "3596" "0" "3596" "0" "c.*53A>C" "r.(=)" "p.(=)" "" "0000668979" "00003144" "10" "3667" "0" "3667" "0" "c.*124C>T" "r.(=)" "p.(=)" "" "0000668980" "00003144" "30" "1005" "0" "1005" "0" "c.1005C>T" "r.(=)" "p.(=)" "" "0000675541" "00003144" "30" "7" "0" "7" "0" "c.7G>A" "r.(?)" "p.(Ala3Thr)" "" "0000683461" "00003144" "70" "3013" "0" "3014" "0" "c.3013_3014del" "r.(?)" "p.(Leu1005Alafs*108)" "26" "0000687943" "00003144" "50" "2198" "0" "2198" "0" "c.2198C>T" "r.(?)" "p.(Thr733Met)" "" "0000716987" "00003144" "30" "3482" "0" "3482" "0" "c.3482A>G" "r.(?)" "p.(Gln1161Arg)" "" "0000716988" "00003144" "90" "3253" "0" "3253" "0" "c.3253del" "r.(?)" "p.(Leu1085TrpfsTer4)" "" "0000716989" "00003144" "30" "1314" "0" "1314" "0" "c.1314C>A" "r.(?)" "p.(Leu438=)" "" "0000716990" "00003144" "30" "1203" "0" "1203" "0" "c.1203C>T" "r.(?)" "p.(Cys401=)" "" "0000716991" "00003144" "90" "942" "0" "942" "0" "c.942del" "r.(?)" "p.(Gly315GlufsTer12)" "" "0000787211" "00003144" "50" "1556" "0" "1556" "0" "c.1556C>T" "r.(?)" "p.(Thr519Ile)" "16" "0000787564" "00003144" "50" "2440" "0" "2440" "0" "c.2440G>A" "r.(?)" "p.(Val814Met)" "22" "0000798906" "00003144" "30" "1634" "0" "1634" "0" "c.1634G>A" "r.(?)" "p.(Arg545His)" "" "0000798907" "00003144" "30" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Ala249Val)" "" "0000798908" "00003144" "30" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Cys)" "" "0000798909" "00003144" "30" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Arg78Gln)" "" "0000848393" "00003144" "30" "2943" "0" "2943" "0" "c.2943G>A" "r.(?)" "p.(Thr981=)" "" "0000848394" "00003144" "50" "656" "0" "656" "0" "c.656A>G" "r.(?)" "p.(Asn219Ser)" "" "0000857137" "00003144" "30" "3087" "0" "3087" "0" "c.3087C>T" "r.(?)" "p.(Phe1029=)" "" "0000857138" "00003144" "50" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Trp)" "" "0000882935" "00003144" "30" "1195" "9" "1195" "9" "c.1195+9C>T" "r.(=)" "p.(=)" "" "0000910841" "00003144" "30" "1614" "0" "1614" "0" "c.1614C>T" "r.(?)" "p.(Pro538=)" "" "0000928064" "00003144" "30" "2859" "0" "2859" "0" "c.2859G>A" "r.(?)" "p.(=)" "" "0000960643" "00003144" "30" "2836" "0" "2836" "0" "c.2836A>T" "r.(?)" "p.(Ile946Phe)" "" "0000973463" "00003144" "50" "2422" "0" "2422" "0" "c.2422C>G" "r.(?)" "p.(Gln808Glu)" "" "0000973464" "00003144" "50" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451Trp)" "" "0000973465" "00003144" "70" "477" "2" "477" "2" "c.477+2T>G" "r.spl?" "p.?" "" "0000990555" "00003144" "30" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Pro666Leu)" "" "0000990556" "00003144" "50" "1631" "0" "1631" "0" "c.1631G>A" "r.(?)" "p.(Arg544His)" "" "0001031482" "00003144" "50" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Arg500Cys)" "" "0001031483" "00003144" "50" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Ala249Val)" "" "0001045039" "00003144" "90" "2540" "0" "2550" "0" "c.2540_2550del" "r.(2540_2550del)" "p.(Gln847Leufs*7)" "" "0001049959" "00003144" "50" "2773" "0" "2777" "0" "c.2773_2777dup" "r.(?)" "p.(Leu927Valfs*18)" "" "0001049960" "00003144" "50" "2771" "0" "2771" "0" "c.2771G>A" "r.(?)" "p.(Arg924His)" "" "0001049961" "00003144" "50" "1055" "0" "1055" "0" "c.1055T>C" "r.(?)" "p.(Val352Ala)" "" "0001058463" "00003144" "90" "3057" "0" "3057" "0" "c.3057del" "r.(?)" "p.(Tyr1020ThrfsTer3)" "" "0001060820" "00003144" "70" "2530" "-1" "2530" "-1" "c.2530-1G>C" "r.spl" "p.?" "" "0001062984" "00003144" "50" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "" "0001069266" "00003144" "50" "3161" "0" "3161" "0" "c.3161C>T" "r.(?)" "p.(Ser1054Phe)" "" "0001069647" "00003144" "50" "2899" "0" "2899" "0" "c.2899G>C" "r.(?)" "p.(Asp967His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000002921" "0000021295" "0000103198" "0000166304" "0000103198" "0000166306" "0000103199" "0000166305" "0000103199" "0000166307" "0000105169" "0000170441" "0000290761" "0000647450" "0000290762" "0000647451" "0000290763" "0000647452" "0000290764" "0000647453" "0000290765" "0000647454" "0000305291" "0000668979" "0000305292" "0000668980" "0000309015" "0000683461" "0000375860" "0000787211" "0000375860" "0000787564" "0000467247" "0001045039" "0000470341" "0001058463" "0000472309" "0001060820" "0000474868" "0001069266" "0000475251" "0001069647"