Unique variants in the ATP13A2 gene

An NCL gene variant database
Information The variants shown are described using the NM_022089.2 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 - c.-227C>T r.(?) p.(=) - benign g.17338460G>A g.17011965G>A ATP13A2(NM_001141973.3):c.-227C>T - ATP13A2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.7G>A r.(?) p.(Ala3Thr) - likely benign g.17338227C>T - ATP13A2(NM_001141973.2):c.7G>A (p.A3T) - ATP13A2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.35C>T r.(?) p.(Thr12Met) - VUS g.17332249G>A g.17005754G>A ATP13A2(NM_001141973.2):c.35C>T (p.T12M) - ATP13A2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.106-8G>A r.(=) p.(=) - likely benign g.17332059C>T g.17005564C>T ATP13A2(NM_001141973.2):c.106-8G>A, ATP13A2(NM_022089.4):c.106-8G>A - ATP13A2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 2 - c.132A>G r.(?) p.(Pro44=) - likely benign g.17332025T>C g.17005530T>C ATP13A2(NM_001141973.2):c.132A>G (p.P44=), ATP13A2(NM_022089.4):c.132A>G (p.P44=) - ATP13A2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.233G>A r.(?) p.(Arg78Gln) - likely benign g.17331924C>T - ATP13A2(NM_001141973.2):c.233G>A (p.R78Q) - ATP13A2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.244C>A r.(?) p.(Leu82Met) - likely benign, VUS g.17331913G>T g.17005418G>T ATP13A2(NM_022089.2):c.244C>A (p.L82M), ATP13A2(NM_022089.4):c.244C>A (p.L82M) - ATP13A2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-/. 1 - c.289-109T>C r.(=) p.(=) - benign g.17331676A>G g.17005181A>G ATP13A2(NM_022089.2):c.289-109T>C - ATP13A2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.355C>G r.(?) p.(Pro119Ala) - likely benign g.17331309G>C g.17004814G>C ATP13A2(NM_022089.2):c.355C>G (p.P119A) - ATP13A2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.453C>T r.(?) p.(Ser151=) - benign, likely benign g.17331211G>A g.17004716G>A ATP13A2(NM_022089.2):c.453C>T (p.S151=) - ATP13A2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+?/., ?/. 2 - c.477+2T>G r.spl? p.? - likely pathogenic, VUS g.17331185A>C g.17004690A>C ATP13A2(NM_001141973.3):c.462+17T>G, ATP13A2(NM_022089.2):c.477+2T>G - ATP13A2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.477+10G>A r.(=) p.(=) - likely benign g.17331177C>T g.17004682C>T ATP13A2(NM_022089.2):c.477+10G>A - ATP13A2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.595C>T r.(?) p.(Arg199Cys) - likely benign g.17328831G>A - ATP13A2(NM_001141973.2):c.580C>T (p.R194C) - ATP13A2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.635+15G>A r.(=) p.(=) - likely benign g.17328776C>T g.17002281C>T ATP13A2(NM_022089.4):c.635+15G>A - ATP13A2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.656A>G r.(?) p.(Asn219Ser) - VUS g.17328578T>C - ATP13A2(NM_001141973.2):c.641A>G (p.N214S) - ATP13A2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.741C>G r.(?) p.(Ser247Arg) - VUS g.17326994G>C g.17000499G>C - - ATP13A2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.746C>T r.(?) p.(Ala249Val) - likely benign g.17326989G>A - ATP13A2(NM_001141973.2):c.731C>T (p.A244V) - ATP13A2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.881G>A r.(?) p.(Arg294Gln) - benign, likely benign g.17326767C>T g.17000272C>T ATP13A2(NM_001141973.1):c.866G>A (p.(Arg289Gln)), ATP13A2(NM_022089.2):c.881G>A (p.R294Q) - ATP13A2_000046 28 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs56367069 CLASSIFICATION record, Germline - 28/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc, Mohammed Faruq
-?/. 1 - c.907+15_907+18del r.(=) p.(=) - likely benign g.17326723_17326726del g.17000228_17000231del ATP13A2(NM_022089.2):c.907+15_907+18delCCCA - ATP13A2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.942del r.(?) p.(Gly315GlufsTer12) - pathogenic g.17326605del - ATP13A2(NM_001141973.3):c.927delC (p.G310Efs*12) - ATP13A2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.951C>T r.(?) p.(Cys317=) - likely benign g.17326594G>A g.17000099G>A ATP13A2(NM_022089.2):c.951C>T (p.C317=), ATP13A2(NM_022089.4):c.951C>T (p.C317=) - ATP13A2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/., -?/. 4 - c.1005C>T r.(=), r.(?) p.(=), p.(Ala335=) - benign, likely benign g.17326540G>A g.17000045G>A ATP13A2(NM_001141973.3):c.990C>T (p.A330=), ATP13A2(NM_022089.2):c.1005C>T (p.A335=) - ATP13A2_000043 2 homozygous; Clinindb (India), 73 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs56290406 CLASSIFICATION record, Germline - 2/2795 individuals, 73/2795 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, Mohammed Faruq
-?/. 1 - c.1080G>C r.(?) p.(Gly360=) - likely benign g.17323630C>G g.16997135C>G ATP13A2(NM_022089.2):c.1080G>C (p.G360=) - ATP13A2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1111C>T r.(?) p.(Arg371Trp) - VUS g.17323599G>A - ATP13A2(NM_001141973.2):c.1096C>T (p.R366W) - ATP13A2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1195+9C>T r.(=) p.(=) - likely benign g.17323506G>A g.16997011G>A ATP13A2(NM_001141973.2):c.1180+9C>T - ATP13A2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.1195+10G>A r.(=) p.(=) - benign, likely benign g.17323505C>T g.16997010C>T 1 more item - ATP13A2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-/. 1 - c.1195+66A>G r.(=) p.(=) - benign g.17323449T>C g.16996954T>C ATP13A2(NM_022089.2):c.1195+66A>G - ATP13A2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.1203C>T r.(?) p.(Cys401=) - likely benign g.17322984G>A g.16996489G>A ATP13A2(NM_001141973.2):c.1188C>T (p.C396=), ATP13A2(NM_022089.4):c.1203C>T (p.C401=) - ATP13A2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.1270C>G r.(?) p.(His424Asp) - likely benign g.17322917G>C g.16996422G>C ATP13A2(NM_001141973.1):c.1255C>G (p.(His419Asp)) - ATP13A2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1309C>G r.(?) p.(Leu437Val) - likely benign g.17322793G>C g.16996298G>C ATP13A2(NM_022089.2):c.1309C>G (p.L437V) - ATP13A2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1314C>A r.(?) p.(Leu438=) - likely benign g.17322788G>T - ATP13A2(NM_001141973.2):c.1299C>A (p.L433=) - ATP13A2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1326C>T r.(?) p.(Tyr442=) - likely benign g.17322776G>A g.16996281G>A ATP13A2(NM_022089.2):c.1326C>T (p.Y442=) - ATP13A2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1351C>T r.(?) p.(Arg451Trp) - VUS g.17322751G>A g.16996256G>A ATP13A2(NM_001141973.2):c.1336C>T (p.R446W) - ATP13A2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1353+8T>C r.(=) p.(=) - likely benign g.17322741A>G g.16996246A>G ATP13A2(NM_022089.2):c.1353+8T>C - ATP13A2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1536C>T r.(?) p.(Phe512=) - likely benign g.17322477G>A g.16995982G>A ATP13A2(NM_001141973.2):c.1521C>T (p.F507=) - ATP13A2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 16 c.1556C>T r.(?) p.(Thr519Ile) - VUS g.17320317G>A g.16993822G>A - - ATP13A2_000095 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1572C>T r.(?) p.(Asp524=) - likely benign g.17320301G>A g.16993806G>A ATP13A2(NM_022089.4):c.1572C>T (p.D524=) - ATP13A2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1573G>A r.(?) p.(Val525Met) - VUS g.17320300C>T g.16993805C>T ATP13A2(NM_001141973.2):c.1558G>A (p.V520M) - ATP13A2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1614C>T r.(?) p.(Pro538=) - likely benign g.17320259G>A g.16993764G>A ATP13A2(NM_022089.2):c.1614C>T (p.P538=), ATP13A2(NM_022089.4):c.1614C>T (p.P538=) - ATP13A2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.1634G>A r.(?) p.(Arg545His) - likely benign g.17320239C>T - ATP13A2(NM_001141973.2):c.1619G>A (p.R540H) - ATP13A2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1688G>A r.(?) p.(Arg563Gln) - likely benign g.17320185C>T g.16993690C>T ATP13A2(NM_001141973.2):c.1673G>A (p.R558Q) - ATP13A2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.1815C>T r.(?) p.(Pro605=) - benign g.17319011G>A g.16992516G>A ATP13A2(NM_022089.2):c.1815C>T (p.P605=) - ATP13A2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.1926G>A r.(?) p.(Ala642=) - likely benign g.17318817C>T g.16992322C>T ATP13A2(NM_001141973.2):c.1911G>A (p.A637=) - ATP13A2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1956C>T r.(?) p.(Tyr652=) - likely benign g.17318787G>A g.16992292G>A ATP13A2(NM_022089.4):c.1956C>T (p.Y652=) - ATP13A2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2013C>T r.(?) p.(Thr671=) - likely benign g.17318617G>A g.16992122G>A ATP13A2(NM_022089.4):c.2013C>T (p.T671=) - ATP13A2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2118A>G r.(?) p.(Gln706=) - likely benign g.17318512T>C g.16992017T>C ATP13A2(NM_001141973.2):c.2103A>G (p.Q701=) - ATP13A2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2151C>T r.(?) p.(Ser717=) - likely benign g.17318329G>A g.16991834G>A ATP13A2(NM_001141973.2):c.2136C>T (p.S712=) - ATP13A2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.2198C>T r.(?) p.(Thr733Met) - likely benign, VUS g.17318282G>A g.16991787G>A ATP13A2(NM_001141973.2):c.2183C>T (p.T728M) - ATP13A2_000088 4 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs201883464 CLASSIFICATION record, Germline - 4/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
?/. 1 - c.2263C>G r.(?) p.(Gln755Glu) - VUS g.17316771G>C g.16990276G>C ATP13A2(NM_022089.2):c.2263C>G (p.Q755E) - ATP13A2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2284C>T r.(?) p.(Arg762Trp) - likely benign g.17316750G>A g.16990255G>A ATP13A2(NM_022089.2):c.2284C>T (p.R762W) - ATP13A2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2304C>T r.(?) p.(Ala768=) - likely benign g.17316730G>A g.16990235G>A ATP13A2(NM_022089.4):c.2304C>T (p.A768=) - ATP13A2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2326G>C r.(?) p.(Val776Leu) - likely benign g.17316708C>G g.16990213C>G ATP13A2(NM_022089.2):c.2326G>C (p.V776L) - ATP13A2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 22 c.2440G>A r.(?) p.(Val814Met) - VUS g.17316471C>T g.16989976C>T - - ATP13A2_000094 - 0 - - Germline - - - - - LOVD
+?/. 1 23 c.2543G>A r.(?) p.(Gly848Asp) - likely pathogenic g.17316252C>T g.16989757C>T - - ATP13A2_000003 - - - - Unknown ? - - - - Marcel Nelen
-?/. 1 - c.2556C>T r.(?) p.(Ala852=) - likely benign g.17316239G>A g.16989744G>A ATP13A2(NM_022089.2):c.2556C>T (p.A852=) - ATP13A2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 22 c.2561T>G r.(?) p.(Met854Arg) - pathogenic g.17316234A>C g.16989739A>C T2429G (Met810Arg) - ATP13A2_000005 - PubMed: Bras 2012, Journal: Bras 2012 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.2629G>A r.(?) p.(Gly877Arg) - pathogenic g.17314950C>T g.16988455C>T ATP13A2(NM_022089.2):c.2629G>A (p.G877R) - ATP13A2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.2637C>T r.(?) p.(Gly879=) - benign g.17314942G>A g.16988447G>A ATP13A2(NM_022089.2):c.2637C>T (p.G879=) - ATP13A2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.2675G>A r.(?) p.(Gly892Asp) - VUS g.17314904C>T g.16988409C>T - - ATP13A2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2699C>T r.(?) p.(Ala900Val) - VUS g.17314880G>A g.16988385G>A ATP13A2(NM_022089.2):c.2699C>T (p.A900V) - ATP13A2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2709C>G r.(?) p.(Val903=) - likely benign g.17314870G>C g.16988375G>C ATP13A2(NM_001141973.3):c.2694C>G (p.V898=) - ATP13A2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.2724G>A r.(?) p.(Ser908=) - benign g.17314855C>T g.16988360C>T ATP13A2(NM_001141973.2):c.2709G>A (p.S903=) - ATP13A2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2745C>T r.(?) p.(Cys915=) - likely benign g.17314834G>A g.16988339G>A ATP13A2(NM_022089.2):c.2745C>T (p.C915=) - ATP13A2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2763-1G>A r.spl? p.? - pathogenic g.17314730C>T g.16988235C>T - - ATP13A2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 4 - c.2790G>A r.(?) p.(Ser930=) - benign g.17314702C>T g.16988207C>T ATP13A2(NM_022089.2):c.2790G>A (p.S930=), ATP13A2(NM_022089.4):c.2790G>A (p.S930=) - ATP13A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/., ?/. 2 - c.2836A>T r.(?) p.(Ile946Phe) - likely benign, VUS g.17314656T>A g.16988161T>A ATP13A2(NM_001141973.2):c.2821A>T (p.I941F), ATP13A2(NM_001141973.3):c.2821A>T (p.I941F) - ATP13A2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.2942C>T r.(?) p.(Thr981Met) - VUS g.17313682G>A g.16987187G>A ATP13A2(NM_001141973.2):c.2927C>T (p.T976M) - ATP13A2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2943G>A r.(?) p.(Thr981=) - likely benign g.17313681C>T - ATP13A2(NM_001141973.2):c.2928G>A (p.T976=) - ATP13A2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.2970G>A r.(?) p.(Val990=) - benign g.17313654C>T g.16987159C>T ATP13A2(NM_022089.2):c.2970G>A (p.V990=) - ATP13A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.2972G>A r.(?) p.(Arg991Gln) - VUS g.17313652C>T g.16987157C>T - - ATP13A2_000087 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145548316 Germline - 1/2785 individuals - - - Mohammed Faruq
+?/. 1 26 c.3013_3014del r.(?) p.(Leu1005Alafs*108) ACMG likely pathogenic g.17313610_17313611del - - - ATP13A2_000091 - - - - Germline - - - - - Corina-Marcela Rus
-?/. 1 - c.3030C>T r.(?) p.(Val1010=) - likely benign g.17313594G>A g.16987099G>A ATP13A2(NM_001141973.2):c.3015C>T (p.V1005=) - ATP13A2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3084-7C>A r.(=) p.(=) - likely benign g.17313458G>T g.16986963G>T ATP13A2(NM_001141973.2):c.3069-7C>A - ATP13A2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 4 - c.3084-3C>T r.spl? p.? - benign g.17313454G>A g.16986959G>A ATP13A2(NM_022089.2):c.3084-3C>T, ATP13A2(NM_022089.4):c.3084-3C>T - ATP13A2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 2 - c.3087C>T r.(?) p.(Phe1029=) - likely benign g.17313448G>A g.16986953G>A ATP13A2(NM_001141973.2):c.3072C>T (p.F1024=), ATP13A2(NM_022089.4):c.3087C>T (p.F1029=) - ATP13A2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+?/. 2 27 c.3176T>G r.(?) p.(Leu1059Arg) - likely pathogenic g.17313359A>C g.16986864A>C L1059R - ATP13A2_000001 - PubMed: Park 2011 - - Germline yes - - - - Johan den Dunnen
-/. 4 - c.3192C>T r.(?) p.(Ala1064=) - benign g.17313343G>A g.16986848G>A ATP13A2(NM_022089.2):c.3192C>T (p.A1064=), ATP13A2(NM_022089.4):c.3192C>T (p.A1064=) - ATP13A2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.3222G>A r.(?) p.(Pro1074=) - likely benign g.17313313C>T g.16986818C>T ATP13A2(NM_022089.2):c.3222G>A (p.P1074=) - ATP13A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3235+16C>G r.(=) p.(=) - likely benign g.17313284G>C g.16986789G>C ATP13A2(NM_022089.4):c.3235+16C>G - ATP13A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.3235+17G>A r.(=) p.(=) - likely benign g.17313283C>T g.16986788C>T ATP13A2(NM_022089.2):c.3235+17G>A - ATP13A2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/., -?/. 2 - c.3235+44_3235+55del r.(=) p.(=) - benign, likely benign g.17313248_17313259del g.16986753_16986764del 1 more item - ATP13A2_000017, ATP13A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
-/. 1 - c.3236-30C>T r.(=) p.(=) - benign g.17313157G>A g.16986662G>A ATP13A2(NM_022089.4):c.3236-30C>T - ATP13A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., +?/. 3 28 c.3253del r.(?) p.(Leu1085Trpfs*4), p.(Leu1085TrpfsTer4) - likely pathogenic, pathogenic g.17313112del g.16986617del 3253delC; L1085WfsX1088, ATP13A2(NM_001141973.3):c.3238delC (p.L1080Wfs*4) - ATP13A2_000002 VKGL data sharing initiative Nederland PubMed: Park 2011 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_VUmc
-?/. 1 - c.3258G>A r.(?) p.(Ala1086=) - likely benign g.17313105C>T g.16986610C>T ATP13A2(NM_022089.4):c.3258G>A (p.A1086=) - ATP13A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.3342C>T r.(?) p.(Thr1114=) - likely benign g.17313021G>A g.16986526G>A ATP13A2(NM_001141973.2):c.3327C>T (p.T1109=) - ATP13A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3363G>A r.(?) p.(Leu1121=) - likely benign g.17313000C>T g.16986505C>T ATP13A2(NM_022089.4):c.3363G>A (p.L1121=) - ATP13A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.3409G>A r.(?) p.(Val1137Met) - VUS g.17312850C>T g.16986355C>T ATP13A2(NM_001141973.3):c.3394G>A (p.V1132M) - ATP13A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.3448C>T r.(?) p.(Arg1150Trp) - VUS g.17312811G>A g.16986316G>A ATP13A2(NM_001141973.3):c.3433C>T (p.R1145W) - ATP13A2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.3473G>A r.(?) p.(Arg1158His) - likely benign g.17312786C>T g.16986291C>T ATP13A2(NM_001141973.1):c.3458G>A (p.(Arg1153His)) - ATP13A2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3482A>G r.(?) p.(Gln1161Arg) - likely benign g.17312777T>C - ATP13A2(NM_001141973.2):c.3467A>G (p.Q1156R) - ATP13A2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 4 - c.3516G>A r.(?) p.(Pro1172=) - benign g.17312743C>T g.16986248C>T ATP13A2(NM_001141974.3):c.3214G>A (p.A1072T), ATP13A2(NM_022089.2):c.3516G>A (p.P1172=) - ATP13A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.*53A>C r.(=) p.(=) - likely benign g.17312663T>G g.16986168T>G ATP13A2(NM_001141974.2):c.3294A>C (p.Q1098H) - ATP13A2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.*120A>T r.(=) p.(=) - likely benign g.17312596T>A g.16986101T>A ATP13A2(NM_001141974.2):c.3361A>T (p.T1121S), ATP13A2(NM_001141974.3):c.3361A>T (p.T1121S) - ATP13A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-/. 3 - c.*124C>T r.(=) p.(=) - benign g.17312592G>A g.16986097G>A ATP13A2(NM_001141974.3):c.3365C>T (p.P1122L) - ATP13A2_000009 1 homozygous; Clinindb (India), 43 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs15786 CLASSIFICATION record, Germline - 1/2795 individuals, 43/2795 individuals - - - VKGL-NL_VUmc, Mohammed Faruq
-?/. 3 - c.*130C>T r.(=) p.(=) - likely benign g.17312586G>A g.16986091G>A 1 more item - ATP13A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.*158T>C r.(=) p.(=) - likely benign g.17312558A>G g.16986063A>G ATP13A2(NM_001141974.2):c.3399T>C (p.V1133=) - ATP13A2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*158T>G r.(=) p.(=) - likely benign g.17312558A>C g.16986063A>C ATP13A2(NM_001141974.2):c.3399T>G (p.V1133=) - ATP13A2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*190G>A r.(=) p.(=) - VUS g.17312526C>T g.16986031C>T ATP13A2(NM_001141974.3):c.3431G>A (p.R1144H) - ATP13A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*243A>C r.(=) p.(=) - likely benign g.17312473T>G g.16985978T>G ATP13A2(NM_022089.4):c.*243A>C - ATP13A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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