Full data view for gene ATP13A2

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

148 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-227C>T r.(?) p.(=) Unknown - benign g.17338460G>A g.17011965G>A ATP13A2(NM_001141973.3):c.-227C>T - ATP13A2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.7G>A r.(?) p.(Ala3Thr) Unknown - likely benign g.17338227C>T - ATP13A2(NM_001141973.2):c.7G>A (p.A3T) - ATP13A2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.35C>T r.(?) p.(Thr12Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.106-8G>A r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.106-8G>A r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.132A>G r.(?) p.(Pro44=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.132A>G r.(?) p.(Pro44=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.233G>A r.(?) p.(Arg78Gln) Unknown - likely benign g.17331924C>T - ATP13A2(NM_001141973.2):c.233G>A (p.R78Q) - ATP13A2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.244C>A r.(?) p.(Leu82Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.244C>A r.(?) p.(Leu82Met) Unknown - likely benign 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.244C>A r.(?) p.(Leu82Met) Unknown - likely benign 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.289-109T>C r.(=) p.(=) Unknown - benign g.17331676A>G g.17005181A>G ATP13A2(NM_022089.2):c.289-109T>C - ATP13A2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.355C>G r.(?) p.(Pro119Ala) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.453C>T r.(?) p.(Ser151=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.453C>T r.(?) p.(Ser151=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.477+2T>G r.spl? p.? Unknown - likely pathogenic 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.477+2T>G r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477+10G>A r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.595C>T r.(?) p.(Arg199Cys) Unknown - likely benign g.17328831G>A - ATP13A2(NM_001141973.2):c.580C>T (p.R194C) - ATP13A2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.635+15G>A r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.656A>G r.(?) p.(Asn219Ser) Unknown - VUS g.17328578T>C - ATP13A2(NM_001141973.2):c.641A>G (p.N214S) - ATP13A2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.741C>G r.(?) p.(Ser247Arg) Unknown - VUS g.17326994G>C g.17000499G>C - - ATP13A2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.746C>T r.(?) p.(Ala249Val) Unknown - likely benign g.17326989G>A - ATP13A2(NM_001141973.2):c.731C>T (p.A244V) - ATP13A2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.881G>A r.(?) p.(Arg294Gln) Unknown - 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.881G>A r.(?) p.(Arg294Gln) Unknown - 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.881G>A r.(?) p.(Arg294Gln) Unknown - 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.881G>A r.(?) p.(Arg294Gln) Parent #1 - benign g.17326767C>T g.17000272C>T - - ATP13A2_000046 28 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56367069 Germline - 28/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 28 Mohammed Faruq
-?/. - c.907+15_907+18del r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.942del r.(?) p.(Gly315GlufsTer12) Unknown - pathogenic g.17326605del - ATP13A2(NM_001141973.3):c.927delC (p.G310Efs*12) - ATP13A2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.951C>T r.(?) p.(Cys317=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.951C>T r.(?) p.(Cys317=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1005C>T r.(?) p.(Ala335=) Unknown - 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1005C>T r.(?) p.(Ala335=) Unknown - 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1005C>T r.(=) p.(=) Parent #1 - likely benign g.17326540G>A g.17000045G>A - - ATP13A2_000043 73 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56290406 Germline - 73/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 73 Mohammed Faruq
-?/. - c.1005C>T r.(=) p.(=) Both (homozygous) - likely benign g.17326540G>A g.17000045G>A - - ATP13A2_000043 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56290406 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-?/. - c.1080G>C r.(?) p.(Gly360=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1111C>T r.(?) p.(Arg371Trp) Unknown - VUS g.17323599G>A - ATP13A2(NM_001141973.2):c.1096C>T (p.R366W) - ATP13A2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1195+9C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1195+10G>A r.(=) p.(=) Unknown - likely benign g.17323505C>T g.16997010C>T ATP13A2(NM_001141973.2):c.1180+10G>A, ATP13A2(NM_022089.2):c.1195+10G>A, ATP13A2(NM_022089.4):c.1195+10G>A - ATP13A2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1195+10G>A r.(=) p.(=) Unknown - benign g.17323505C>T g.16997010C>T ATP13A2(NM_001141973.2):c.1180+10G>A, ATP13A2(NM_022089.2):c.1195+10G>A, ATP13A2(NM_022089.4):c.1195+10G>A - ATP13A2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1195+10G>A r.(=) p.(=) Unknown - likely benign g.17323505C>T g.16997010C>T ATP13A2(NM_001141973.2):c.1180+10G>A, ATP13A2(NM_022089.2):c.1195+10G>A, ATP13A2(NM_022089.4):c.1195+10G>A - ATP13A2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1195+66A>G r.(=) p.(=) Unknown - benign g.17323449T>C g.16996954T>C ATP13A2(NM_022089.2):c.1195+66A>G - ATP13A2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1203C>T r.(?) p.(Cys401=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1203C>T r.(?) p.(Cys401=) Unknown - likely benign g.17322984G>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1270C>G r.(?) p.(His424Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1309C>G r.(?) p.(Leu437Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1314C>A r.(?) p.(Leu438=) Unknown - likely benign g.17322788G>T - ATP13A2(NM_001141973.2):c.1299C>A (p.L433=) - ATP13A2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1326C>T r.(?) p.(Tyr442=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1351C>T r.(?) p.(Arg451Trp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1353+8T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1536C>T r.(?) p.(Phe512=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.1556C>T r.(?) p.(Thr519Ile) Parent #1 - VUS g.17320317G>A g.16993822G>A - - ATP13A2_000095 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-1003 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-?/. - c.1572C>T r.(?) p.(Asp524=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1573G>A r.(?) p.(Val525Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1614C>T r.(?) p.(Pro538=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1614C>T r.(?) p.(Pro538=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1634G>A r.(?) p.(Arg545His) Unknown - likely benign g.17320239C>T - ATP13A2(NM_001141973.2):c.1619G>A (p.R540H) - ATP13A2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1688G>A r.(?) p.(Arg563Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1815C>T r.(?) p.(Pro605=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1815C>T r.(?) p.(Pro605=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1815C>T r.(?) p.(Pro605=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1926G>A r.(?) p.(Ala642=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1956C>T r.(?) p.(Tyr652=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2013C>T r.(?) p.(Thr671=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2118A>G r.(?) p.(Gln706=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2151C>T r.(?) p.(Ser717=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2198C>T r.(?) p.(Thr733Met) Parent #1 - likely benign g.17318282G>A g.16991787G>A - - ATP13A2_000088 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201883464 Germline - 4/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
?/. - c.2198C>T r.(?) p.(Thr733Met) Unknown - VUS g.17318282G>A - ATP13A2(NM_001141973.2):c.2183C>T (p.T728M) - ATP13A2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2263C>G r.(?) p.(Gln755Glu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2284C>T r.(?) p.(Arg762Trp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2304C>T r.(?) p.(Ala768=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2326G>C r.(?) p.(Val776Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 22 c.2440G>A r.(?) p.(Val814Met) Parent #2 - VUS g.17316471C>T g.16989976C>T - - ATP13A2_000094 - 0 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-1003 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+?/. 23 c.2543G>A r.(?) p.(Gly848Asp) Both (homozygous) - likely pathogenic g.17316252C>T g.16989757C>T - - ATP13A2_000003 - - - - Unknown ? - - 0 - DNA SEQ - - KRS;CLN12;PARK9 - - - - - - - - - - - 1 Marcel Nelen
-?/. - c.2556C>T r.(?) p.(Ala852=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 22 c.2561T>G r.(?) p.(Met854Arg) Both (homozygous) - pathogenic g.17316234A>C g.16989739A>C T2429G (Met810Arg) - ATP13A2_000005 - PubMed: Bras 2012, Journal: Bras 2012 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - CLN 22388936-Fam PubMed: Bras 2012, Journal: Bras 2012 2-generation family, 4 affecteds (3F, M), unaffected heterozygous carrier parents F;M - Belgium - - 0 - - 4 Johan den Dunnen
+/. - c.2629G>A r.(?) p.(Gly877Arg) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2637C>T r.(?) p.(Gly879=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2637C>T r.(?) p.(Gly879=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2637C>T r.(?) p.(Gly879=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2675G>A r.(?) p.(Gly892Asp) Unknown - VUS g.17314904C>T g.16988409C>T - - ATP13A2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2699C>T r.(?) p.(Ala900Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2709C>G r.(?) p.(Val903=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2724G>A r.(?) p.(Ser908=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2745C>T r.(?) p.(Cys915=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2763-1G>A r.spl? p.? Unknown - pathogenic g.17314730C>T g.16988235C>T - - ATP13A2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2790G>A r.(?) p.(Ser930=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2790G>A r.(?) p.(Ser930=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2790G>A r.(?) p.(Ser930=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2790G>A r.(?) p.(Ser930=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2836A>T r.(?) p.(Ile946Phe) Unknown - likely benign 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2836A>T r.(?) p.(Ile946Phe) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2942C>T r.(?) p.(Thr981Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2943G>A r.(?) p.(Thr981=) Unknown - likely benign g.17313681C>T - ATP13A2(NM_001141973.2):c.2928G>A (p.T976=) - ATP13A2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2970G>A r.(?) p.(Val990=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2970G>A r.(?) p.(Val990=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2970G>A r.(?) p.(Val990=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2972G>A r.(?) p.(Arg991Gln) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+?/. 26 c.3013_3014del r.(?) p.(Leu1005Alafs*108) Both (homozygous) ACMG likely pathogenic g.17313610_17313611del - - - ATP13A2_000091 - - - - Germline - - - 0 - DNA SEQ DNA - KRS;CLN12;PARK9 ? - - M yes Oman - - 0 - - 1 Corina-Marcela Rus
-?/. - c.3030C>T r.(?) p.(Val1010=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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