Unique variants in the ATP1A2 gene

Information The variants shown are described using the NM_000702.3 transcript reference sequence.

160 entries on 2 pages. Showing entries 1 - 100.
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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.-48C>G r.(?) p.(=) - likely benign g.160085604C>G g.160115814C>G ATP1A2(NM_000702.2):c.-48C>G - ATP1A2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 1 16 c.? r.(?) p.Asn717Lys - pathogenic g.? - - - ATP1A2_000076 Protein location: M4-M5 - - - Germline - - - - - Boukje de Vries
-/. 1 - c.13-134C>T r.(=) p.(=) - benign g.160090562C>T g.160120772C>T ATP1A2(NM_000702.2):c.13-134C>T - ATP1A2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., +?/. 2 - c.13-26T>C r.(=), r.(?) p.(=) - benign, pathogenic g.160090670T>C g.160120880T>C - - ATP1A2_000084 5'UTR - - - Germline - - - - - Birgit Neitzel, Andreas Laner
-/? 1 - c.13-22T>C r.(?) p.(=) - benign g.160090674T>C g.160120884T>C - - ATP1A2_000079 5'UTR - - rs2854246 Germline - - - - - Johan den Dunnen
-?/. 1 - c.13-14_13-13del r.(=) p.(=) - likely benign g.160090682_160090683del g.160120892_160120893del ATP1A2(NM_000702.2):c.13-14_13-13delCC - ATP1A2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.13-12_13-10del r.(=) p.(=) - benign g.160090684_160090686del g.160120894_160120896del ATP1A2(NM_000702.2):c.13-12_13-10delTTC - ATP1A2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -/? 2 1i c.13-11_13-8del r.(=), r.(?) p.(=) - benign g.160090685_160090688del g.160120895_160120898del 13-11_13-14delCCTT, ATP1A2(NM_000702.2):c.13-11_13-8delTCCT - ATP1A2_000082 5'UTR, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Birgit Neitzel, VKGL-NL_Groningen
-?/-? 1 1i c.13-11_13-8dup r.(=) p.(=) - likely benign g.160090685_160090688dup g.160120895_160120898dup c.13-7_13-8insTCCT - ATP1A2_000037 - PubMed: Riant 2005 - rs35006059 Germline - 0.27 in 100 - - - Paola Carrera
-?/-, -?/-?, -?/., ?/., ?/? 5 2 c.25T>A r.(?) p.(Tyr9Asn), p.Tyr9Asn - likely benign, VUS g.160090708T>A g.160120918T>A ATP1A2(NM_000702.2):c.25T>A (p.Y9N) - ATP1A2_000066 not in 184 controls, not in 400 controls, Protein location: N-terminus, 1 more item PubMed: Thomsen 2008, PubMed: Tonelli 2007 - - CLASSIFICATION record, Germline - - - - - Paola Carrera, Boukje de Vries, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.37G>A r.(?) p.(Ala13Thr) - likely benign g.160090720G>A g.160120930G>A - - ATP1A2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.129G>A r.(?) p.(Lys43=) - likely benign g.160090993G>A g.160121203G>A ATP1A2(NM_000702.2):c.129G>A (p.K43=) - ATP1A2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.152G>A r.(?) p.(Arg51His) - VUS g.160091016G>A - ATP1A2(NM_000702.2):c.152G>A (p.R51H) - ATP1A2_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.177+96T>C r.(=) p.(=) - likely benign g.160091137T>C g.160121347T>C ATP1A2(NM_000702.2):c.177+96T>C - ATP1A2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.178-21C>T r.(=) p.(=) - benign g.160092982C>T g.160123192C>T ATP1A2(NM_000702.2):c.178-21C>T - ATP1A2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/?, ?/? 4 3, 4 c.193C>T r.(?) p.(Arg65Trp), p.Arg65Trp - likely pathogenic, VUS g.160093018C>T g.160123228C>T - - ATP1A2_000001 not in 400 controls, Protein location: N-terminus PubMed: Tonelli 2007 - - Germline - - - - - Paola Carrera, Boukje de Vries
+/. 1 - c.311T>C r.(?) p.(Ile104Thr) - pathogenic g.160093136T>C g.160123346T>C - - ATP1A2_000102 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.325T>C r.(?) p.(Cys109Arg) - VUS g.160093150T>C g.160123360T>C - - ATP1A2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +?/+? 2 4 c.359A>C r.(?) p.(Glu120Ala), p.Glu120Ala - likely pathogenic, pathogenic g.160093184A>C g.160123394A>C nt463A>C - ATP1A2_000059 not in 300 controls; tested expression in vitro, Protein location: M1-M2 PubMed: de Vries 2007 - - Germline - - - - - Paola Carrera, Boukje de Vries
-/., -/? 3 4i c.381+16C>T r.(=), r.(?) p.(=) - benign g.160093222C>T g.160123432C>T ATP1A2(NM_000702.2):c.381+16C>T - ATP1A2_000078 VKGL data sharing initiative Nederland - - rs2820581 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.381+22G>A r.(=) p.(=) - VUS g.160093228G>A g.160123438G>A - - ATP1A2_000103 - - - - Germline - - - - - Andreas Laner
-/. 2 - c.382-41G>T r.(=) p.(=) - benign g.160093692G>T g.160123902G>T ATP1A2(NM_000702.2):c.382-41G>T - ATP1A2_000091 VKGL data sharing initiative Nederland - - rs41265765 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Utrecht
+?/? 6 5 c.413T>C r.(?) p.(Val138Ala), p.Val138Ala - likely pathogenic g.160093764T>C g.160123974T>C - - ATP1A2_000033 not in 460 controls, Protein location: M2 PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera, Boukje de Vries
+/. 1 - c.464_472dup r.(?) p.(Asp157_Ser158insPheMetAsp) - pathogenic g.160093815_160093823dup g.160124025_160124033dup - - ATP1A2_000092 - - - - Germline - - - - - Andreas Laner
?/? 1 5 c.484A>G r.(?) p.Met162Val - VUS g.160093835A>G g.160124045A>G - - ATP1A2_000086 Polyphen probably pathogenic; Protein/Location: M2-M3 - - - Germline - - - - - Birgit Neitzel
?/? 1 5 c.485T>C r.(?) p.(Met162Thr) - VUS g.160093836T>C g.160124046T>C - - ATP1A2_000087 Polyphen probably pathogenic; Protein/Location: M2-M3 - - - Germline - - - - - Birgit Neitzel
-?/-? 1 5i c.495+65C>T r.(?) p.(=) - likely benign g.160093911C>T - - - ATP1A2_000038 1 more item PubMed: Riant 2005 - rs2820582 Germline - - - - - Paola Carrera
-/? 1 5i c.495+65T>C r.(?) p.(=) - benign g.160093911T>C g.160124121T>C - - ATP1A2_000038 - - - rs2820582 Germline - - - - - Johan den Dunnen
-/?, -?/-? 2 5i c.495+81T>A r.(?) p.(=) - benign, likely benign g.160093927T>A g.160124137T>A - - ATP1A2_000039 - PubMed: Riant 2005 - rs2854248 Germline - 0.5 in 50 - - - Johan den Dunnen, Paola Carrera
-/?, -?/-? 2 5i c.495+96G>A r.(?) p.(=) - benign, likely benign g.160093942G>A g.160124152G>A - - ATP1A2_000042 17846707 PubMed: Riant 2005 - rs17846707 Germline - 0.32 in 50 rs - - Johan den Dunnen, Paola Carrera
?/. 1 - c.586C>T r.(?) p.(Arg196Cys) - VUS g.160094176C>T - ATP1A2(NM_000702.2):c.586C>T (p.R196C) - ATP1A2_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.589G>A r.(?) p.(Val197Ile) - likely benign g.160094179G>A g.160124389G>A ATP1A2(NM_000702.2):c.589G>A (p.V197I) - ATP1A2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/?, +?/? 12 6 c.605G>A r.(?) p.(Arg202Gln), p.Arg202Gln - likely pathogenic, pathogenic g.160094195G>A g.160124405G>A - - ATP1A2_000034 not in 460 controls, Protein location: M2-M3 PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera, Boukje de Vries
-?/. 1 - c.631-34C>G r.(=) p.(=) - likely benign g.160094892C>G g.160125102C>G ATP1A2(NM_000702.2):c.631-34C>G - ATP1A2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.659C>T r.(?) p.(Ser220Leu) - pathogenic g.160094954C>T g.160125164C>T - - ATP1A2_000093 - - - - Germline - - - - - Andreas Laner
?/. 2 - c.713G>A r.(?) p.(Arg238His) - VUS g.160095008G>A g.160125218G>A ATP1A2(NM_000702.2):c.713G>A (p.R238H) - ATP1A2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/?, -?/-? 2 7i c.749-27C>A r.(?) p.(=) - benign, likely benign g.160097315C>A g.160127525C>A - - ATP1A2_000043 2295623 PubMed: Riant 2005 - rs2295623 Germline - 0.20 in 50 rs - - Johan den Dunnen, Paola Carrera
+?/+?, +?/? 2 8 c.788C>T r.(?) p.(Thr263Met), p.Thr263Met - likely pathogenic g.160097381C>T g.160127591C>T - - ATP1A2_000002 not in 200 controls, Protein location: M2-M3 PubMed: Riant 2005 - - Germline - - - - - Paola Carrera, Boukje de Vries
-?/. 1 - c.795G>A r.(?) p.(Met265Ile) - likely benign g.160097388G>A g.160127598G>A - - ATP1A2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.848C>T r.(?) p.(Ala283Val) - VUS g.160097441C>T g.160127651C>T - - ATP1A2_000094 - - - - Germline - - - - - Andreas Laner
?/? 1 8 c.857T>C r.(?) p.(Ile286Thr) - VUS g.160097450T>C g.160127660T>C 961T>C (I286T) - ATP1A2_000003 - PubMed: Vanmolkot 2007 - - Germline - - - - - Paola Carrera
+/+ 1 8 c.858T>C r.(?) p.Ile286Thr - pathogenic g.160097451T>C g.160127661T>C - - ATP1A2_000073 Protein location: M2-M3 - - - Germline - - - - - Boukje de Vries
?/. 2 - c.862C>T r.(?) p.(His288Tyr) - VUS g.160097455C>T g.160127665C>T ATP1A2(NM_000702.2):c.862C>T (p.H288Y), ATP1A2(NM_000702.3):c.862C>T (p.(His288Tyr)) - ATP1A2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.892G>C r.(?) p.(Val298Leu) - VUS g.160097485G>C g.160127695G>C - - ATP1A2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+?, ?/? 10 8 c.901G>A r.(?) p.(Gly301Arg), p.Gly301Arg - pathogenic, VUS g.160097494G>A g.160127704G>A - - ATP1A2_000004 Protein location: M3 PubMed: Spadaro 2004 - - Germline - - - - - Paola Carrera, Boukje de Vries
-?/. 1 - c.987C>T r.(?) p.(Asn329=) - likely benign g.160097580C>T - ATP1A2(NM_000702.2):c.987C>T (p.N329=) - ATP1A2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/? 1 8i c.1017+56G>A r.(?) p.(=) - benign g.160097666G>A g.160127876G>A - - ATP1A2_000081 - - - rs6695366 Germline - - - - - Johan den Dunnen
+/+, +?/+?, ?/? 4 9 c.1033A>G r.(?) p.(Thr345Ala), p.Thr345Ala - likely pathogenic, NA, pathogenic, VUS g.160098457A>G g.160128667A>G - - ATP1A2_000005 Protein location: M4-M5, tested expression in vitro PubMed: Kaunisto 2004, PubMed: Segall 2004 - - Germline, In vitro (cloned) - - - - - Paola Carrera, Boukje de Vries
+/+, +/+? 3 9 c.1085T>A r.(?) p.(Val362Glu), p.Val362Glu - pathogenic g.160098509T>A g.160128719T>A c.1189T>A - ATP1A2_000032 not in 200 controls; tested expression in vitro, Protein location: M4-M5 PubMed: Castro 2008 - - Germline - - - - - Paola Carrera, Boukje de Vries
?/. 2 - c.1091C>T r.(?) p.(Thr364Met) - VUS g.160098515C>T g.160128725C>T ATP1A2(NM_000702.2):c.1091C>T (p.T364M) - ATP1A2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/., -/?, -?/-? 3 9 c.1119G>A r.(?) p.(=), p.(Ser373=) - benign, likely benign g.160098543G>A g.160128753G>A Ser373Ser - ATP1A2_000044 1063125, VKGL data sharing initiative Nederland PubMed: Riant 2005 - rs1063125 CLASSIFICATION record, Germline - 0.28 in 100 rs - - Johan den Dunnen, Paola Carrera, VKGL-NL_Nijmegen
+/+, +?/+, +?/+? 14 9 c.1127C>T r.(?) p.(Thr376Met), p.Thr376Met - likely pathogenic, pathogenic g.160098551C>T g.160128761C>T c.1231C>T - ATP1A2_000006 not in 200 controls, not in 352 controls; tested expression in vitro, Protein location: M4-M5 PubMed: Castro 2007, PubMed: Riant 2005 - - Germline - - - - - Paola Carrera, Boukje de Vries
+/+, ?/? 5 9 c.1133C>A r.(?) p.(Thr378Asn), p.Thr378Asn - pathogenic, VUS g.160098557C>A g.160128767C>A - - ATP1A2_000007 Protein location: M4-M5 PubMed: Swoboda 2004 - - Germline - - - - - Paola Carrera, Boukje de Vries
+?/., +?/?, ?/? 3 9 c.1148G>A r.(?) p.(Arg383His), p.Arg383His - likely pathogenic, VUS g.160098572G>A g.160128782G>A - - ATP1A2_000008 1 heterozygous, no homozygous; Clinindb (India), Protein location: M4-M5 PubMed: Jurkat-Rott 2004, PubMed: Narang 2020, Journal: Narang 2020 - rs765909830 Germline - 1/2792 individuals - - - Paola Carrera, Boukje de Vries, Mohammed Faruq
+/. 1 - c.1159G>A r.(?) p.(Ala387Thr) - pathogenic g.160098583G>A g.160128793G>A - - ATP1A2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1216+5T>C r.spl? p.? - benign g.160098645T>C g.160128855T>C ATP1A2(NM_000702.2):c.1216+5T>C - ATP1A2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/-? 3 9i c.1216+48G>A r.(=), r.(?) p.(=) - benign, likely benign g.160098688G>A g.160128898G>A ATP1A2(NM_000702.2):c.1216+48G>A - ATP1A2_000046 VKGL data sharing initiative Nederland PubMed: Riant 2005 - - CLASSIFICATION record, Germline - 0.01 in 100 - - - Paola Carrera, Andreas Laner, VKGL-NL_Utrecht
+/+, ?/? 3 10 c.1244C>T r.(?) p.(Thr415Met), p.Thr415Met - NA, pathogenic, VUS g.160098797C>T g.160129007C>T 1348C>T - ATP1A2_000009 Protein location: M4-M5, tested expression in vitro PubMed: Lebas 2008, PubMed: Vanmolkot 2007 - - Germline, In vitro (cloned) - - - - - Paola Carrera, Boukje de Vries
-?/. 1 - c.1287C>T r.(?) p.(Ala429=) - likely benign g.160098840C>T g.160129050C>T ATP1A2(NM_000702.2):c.1287C>T (p.A429=) - ATP1A2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1288G>A r.(?) p.(Val430Ile) - VUS g.160098841G>A g.160129051G>A - - ATP1A2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 3 - c.1318G>A r.(?) p.(Val440Met) - VUS g.160098871G>A g.160129081G>A ATP1A2(NM_000702.2):c.1318G>A (p.V440M) - ATP1A2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.1320G>T r.(?) p.(Val440=) - likely benign g.160098873G>T g.160129083G>T ATP1A2(NM_000702.2):c.1320G>T (p.V440=) - ATP1A2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/? 1 10i c.1326+49dup r.(=) p.(=) - benign g.160098928dup g.160129138dup - - ATP1A2_000080 - - - rs5778151 Germline - - - - - Johan den Dunnen
-?/-? 1 10i c.1326+51del r.(=) p.(=) - likely benign g.160098930del g.160129140del c.1326+50delG - ATP1A2_000047 17846711 PubMed: Riant 2005 - rs17846711 Germline - 0.28 in 100 rs - - Paola Carrera
-?/. 1 - c.1326+67C>T r.(=) p.(=) - likely benign g.160098946C>T g.160129156C>T ATP1A2(NM_000702.2):c.1326+67C>T - ATP1A2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1461+5G>A r.spl? p.? - VUS g.160099195G>A - ATP1A2(NM_000702.2):c.1461+5G>A - ATP1A2_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1461+91G>C r.(=) p.(=) - likely benign g.160099281G>C g.160129491G>C ATP1A2(NM_000702.2):c.1461+91G>C - ATP1A2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1461+115C>T r.(=) p.(=) - likely benign g.160099305C>T g.160129515C>T ATP1A2(NM_000702.2):c.1461+115C>T - ATP1A2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1462-69A>G r.(=) p.(=) - likely benign g.160099823A>G g.160130033A>G ATP1A2(NM_000702.2):c.1462-69A>G - ATP1A2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+, +?/+?, ?/. 4 12 c.1474G>A r.(?) p.(Glu492Lys), p.Glu492Lys - likely pathogenic, pathogenic, VUS g.160099904G>A g.160130114G>A ATP1A2(NM_000702.2):c.1474G>A (p.E492K), nt1578G>A - ATP1A2_000060 not in 300 controls; tested expression in vitro, Protein location: M4-M5, 1 more item PubMed: de Vries 2007 - rs142348542 CLASSIFICATION record, Germline - - - - - Paola Carrera, Andreas Laner, Boukje de Vries, VKGL-NL_Rotterdam
-?/. 1 - c.1598A>T r.(?) p.(Asp533Val) - likely benign g.160100028A>T g.160130238A>T - - ATP1A2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 5 12 c.1642C>T r.(?) p.(Arg548Cys), p.Arg548Cys - likely pathogenic g.160100072C>T g.160130282C>T 1642C>T - ATP1A2_000010 not in 200 controls, Protein location: M4-M5 PubMed: Lebas 2008 - - Germline - - - - - Paola Carrera, Boukje de Vries
+/., +?/+? 5 12 c.1643G>A r.(?) p.(Arg548His) - likely pathogenic, pathogenic g.160100073G>A g.160130283G>A - - ATP1A2_000069 not in 400 healthy/174 migraine cases PubMed: Ambrosini 2005 - - Germline - - NlaIII+ - - Paola Carrera, Andreas Laner
+?/? 1 12 c.1644G>A r.(?) p.Arg548His - likely pathogenic g.160100074G>A g.160130284G>A - - ATP1A2_000074 1 more item - - - Germline - - - - - Boukje de Vries
-/., -/?, -?/-? 4 12i c.1652-11C>G r.(=), r.(?) p.(=) - benign, likely benign g.160100201C>G g.160130411C>G ATP1A2(NM_000702.2):c.1652-11C>G, c.1462-11C>G - ATP1A2_000048 17846713, VKGL data sharing initiative Nederland PubMed: Riant 2005 - rs17846713 CLASSIFICATION record, Germline - 0.11 in 100 rs - - Johan den Dunnen, Paola Carrera, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 2 - c.1652-7C>A r.(=) p.(=) - likely benign g.160100205C>A g.160130415C>A ATP1A2(NM_000702.2):c.1652-7C>A - ATP1A2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1652-7C>G r.(=) p.(=) - likely benign g.160100205C>G g.160130415C>G ATP1A2(NM_000702.2):c.1652-7C>G - ATP1A2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 1 13 c.1679G>C r.(?) p.(Gly560Ala) - likely benign g.160100239G>C g.160130449G>C - - ATP1A2_000049 - PubMed: Riant 2005 - - Germline - 0.01 in 100 - - - Paola Carrera
-/., -/?, -?/-?, -?/. 5 13 c.1704C>T r.(=), r.(?) p.(=), p.(Phe568=) - benign, likely benign g.160100264C>T g.160130474C>T ATP1A2(NM_000702.2):c.1704C>T (p.F568=), Phe568Phe - ATP1A2_000045 17846714, 2 homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020, PubMed: Riant 2005 - rs17846714 CLASSIFICATION record, Germline - 0.04 in 100, 2/2794 individuals rs - - Johan den Dunnen, Paola Carrera, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Mohammed Faruq
-?/. 1 - c.1710G>A r.(?) p.(Thr570=) - likely benign g.160100270G>A g.160130480G>A ATP1A2(NM_000702.2):c.1710G>A (p.T570=) - ATP1A2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1766T>C r.(?) p.(Ile589Thr) - VUS g.160100326T>C g.160130536T>C - - ATP1A2_000095 - - - - Germline - - - - - Andreas Laner
+/., +?/+? 3 13 c.1777C>T r.(?) p.(Arg593Trp) - likely pathogenic, pathogenic g.160100337C>T g.160130547C>T 1881C>T - ATP1A2_000011 not in 200 controls; tested expression in vitro, VKGL data sharing initiative Nederland PubMed: Vanmolkot 2006 - - CLASSIFICATION record, Germline - - SmaI- - - Paola Carrera, VKGL-NL_Nijmegen
+/+ 1 13 c.1778C>T r.(?) p.Arg593Trp - pathogenic g.160100338C>T g.160130548C>T - - ATP1A2_000075 1 more item - - - Germline - - - - - Boukje de Vries
?/. 1 - c.1780dup r.(?) p.(Ala594Glyfs*42) - VUS g.160100340dup - ATP1A2(NM_000702.2):c.1780dupG (p.A594Gfs*42) - ATP1A2_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +?/+? 6 13 c.1816G>A r.(?) p.(Ala606Thr) - likely pathogenic, pathogenic g.160100376G>A g.160130586G>A - - ATP1A2_000012 not in 200 controls, not in 200 controls; tested expression in vitro, Protein location: M4-M5 PubMed: Jen 2007, PubMed: Riant 2005 - - Germline - - - - - Paola Carrera, Boukje de Vries
+/+, +?/+? 3 14 c.1843G>A r.(?) p.(Gly615Arg), p.Gly615Arg - likely pathogenic, pathogenic g.160104289G>A g.160134499G>A 1947G>A - ATP1A2_000013 not in 200 controls; tested expression in vitro, Protein location: M4-M5 PubMed: Vanmolkot 2006 - - Germline - - MvaI+ - - Paola Carrera, Boukje de Vries
+/+, +?/+? 6 14 c.1882G>A r.(?) p.(Val628Met), p.Val628Met - likely pathogenic, pathogenic g.160104328G>A g.160134538G>A 1987G>A - ATP1A2_000014 not in 200 controls; tested expression in vitro, Protein location: M4-M5 PubMed: Vanmolkot 2006 - - Germline - - - - - Paola Carrera, Boukje de Vries
?/. 1 - c.1939A>G r.(?) p.Ile647Val ACMG VUS g.160104385A>G g.160134595A>G - - ATP1A2_000140 - - - rs779611112 Germline - - - - - Andreas Laner
-?/. 1 - c.1964+81T>A r.(=) p.(=) - likely benign g.160104491T>A g.160134701T>A ATP1A2(NM_000702.2):c.1964+81T>A - ATP1A2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/-? 1 14i c.1965-48_1965-25del r.(?) p.(=) - likely benign g.160104887_160104910del g.160135097_160135120del c.1965-48_-25del - ATP1A2_000050 - PubMed: Riant 2005 - - Germline - 0.02 in 50 - - - Paola Carrera
?/. 1 - c.1975G>T r.(?) p.(Ala659Ser) - VUS g.160104945G>T g.160135155G>T - - ATP1A2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2026G>A r.(?) p.(Asp676Asn) - likely benign g.160104996G>A g.160135206G>A - - ATP1A2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2027A>T r.(?) p.(Asp676Val) - likely benign g.160104997A>T g.160135207A>T - - ATP1A2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +?/+?, ?/? 22 15 c.2066G>A r.(?) p.(Arg689Gln), p.Arg689Gln - likely pathogenic, NA, pathogenic, VUS g.160105036G>A g.160135246G>A - - ATP1A2_000015 Protein location: M4-M5, tested expression in vitro PubMed: Capendeguy 2004, PubMed: Segall 2004, PubMed: Vanmolkot 2003, 1 more item - - Germline, In vitro (cloned) - - - - - Paola Carrera, Boukje de Vries
+?/+?, +?/? 4 15 c.2098G>A r.(?) p.(Glu700Lys), p.Glu700Lys - likely pathogenic g.160105068G>A g.160135278G>A - - ATP1A2_000016 not in 400 controls, Protein location: M4-M5 PubMed: Pierelli 2006 - - Germline - - BstXI- - - Paola Carrera, Boukje de Vries
?/? 6 15 c.2105G>A r.(?) p.(Cys702Tyr) - VUS g.160105075G>A g.160135285G>A c.2105G>A - ATP1A2_000040 not in 340 controls PubMed: Deprez 2008 - - Germline - - - - - Paola Carrera
-?/. 1 - c.2142C>T r.(?) p.(Asp714=) - likely benign g.160105250C>T - ATP1A2(NM_000702.2):c.2142C>T (p.D714=) - ATP1A2_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.2143G>A r.(?) p.(Gly715Arg) - pathogenic g.160105251G>A g.160135461G>A - - ATP1A2_000085 - - - - Germline - - - - - Andreas Laner
+?/+? 1 16 c.2151C>R r.(?) p.(Asn717Lys) - likely pathogenic g.160105259C>R g.160135469C>R c.2151C>A/G - ATP1A2_000064 not in 200 controls; tested expression in vitro PubMed: Jen 2007 - - Germline - - - - - Paola Carrera
+?/+?, ?/? 8 16 c.2152G>A r.(?) p.(Asp718Asn), p.Asp718Asn - likely pathogenic, VUS g.160105260G>A g.160135470G>A - - ATP1A2_000017 Protein location: M4-M5 PubMed: Jurkat-Rott 2004 - - Germline - - - - - Paola Carrera, Boukje de Vries
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