All variants in the ATP1A2 gene

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

432 entries on 5 pages. Showing entries 1 - 100.
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Effect     

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     
-?/. - 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
+/+ 16 c.? r.(?) p.Asn717Lys - pathogenic g.? - - - ATP1A2_000076 Protein location: M4-M5 - - - Germline - - - - - Boukje de Vries
-/. - 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
+/. - c.13-26T>C r.(=) p.(=) - pathogenic g.160090670T>C g.160120880T>C - - ATP1A2_000084 - - - - Germline - - - - - Andreas Laner
+?/. - c.13-26T>C r.(?) p.(=) - benign g.160090670T>C g.160120880T>C - - ATP1A2_000084 5'UTR - - - Germline - - - - - Birgit Neitzel
-/? - c.13-22T>C r.(?) p.(=) - benign g.160090674T>C g.160120884T>C - - ATP1A2_000079 5'UTR - - rs2854246 Germline - - - - - Johan den Dunnen
-?/. - 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
-/. - 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
-/? 1i c.13-11_13-8del r.(?) p.(=) - benign g.160090685_160090688del g.160120895_160120898del 13-11_13-14delCCTT - ATP1A2_000082 5'UTR - - - Germline - - - - - Birgit Neitzel
-/. - c.13-11_13-8del r.(=) p.(=) - benign g.160090685_160090688del g.160120895_160120898del ATP1A2(NM_000702.4):c.13-11_13-8delTCCT - ATP1A2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/-? 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
-?/-? 2 c.25T>A r.(?) p.Tyr9Asn - likely benign g.160090708T>A g.160120918T>A - - ATP1A2_000066 Protein location: N-terminus - - - Germline - - - - - Boukje de Vries
?/. - c.25T>A r.(?) p.(Tyr9Asn) - VUS g.160090708T>A g.160120918T>A ATP1A2(NM_000702.2):c.25T>A (p.Y9N), ATP1A2(NM_000702.4):c.25T>A (p.Y9N) - ATP1A2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/- 2 c.25T>A r.(?) p.(Tyr9Asn) - likely benign g.160090708T>A g.160120918T>A - - ATP1A2_000066 not in 184 controls PubMed: Thomsen 2008 - - Germline - - - - - Paola Carrera
?/? 2 c.25T>A r.(?) p.(Tyr9Asn) - VUS g.160090708T>A g.160120918T>A - - ATP1A2_000066 not in 400 controls PubMed: Tonelli 2007 - - Germline - - - - - Paola Carrera
-?/. - c.25T>A r.(?) p.(Tyr9Asn) - likely benign g.160090708T>A g.160120918T>A ATP1A2(NM_000702.2):c.25T>A (p.Y9N), ATP1A2(NM_000702.4):c.25T>A (p.Y9N) - ATP1A2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - 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
-?/. - c.129G>A r.(?) p.(Lys43=) - likely benign g.160090993G>A g.160121203G>A ATP1A2(NM_000702.2):c.129G>A (p.K43=), ATP1A2(NM_000702.3):c.129G>A (p.(Lys43=)) - ATP1A2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.129G>A r.(?) p.(Lys43=) - likely benign g.160090993G>A - ATP1A2(NM_000702.2):c.129G>A (p.K43=), ATP1A2(NM_000702.3):c.129G>A (p.(Lys43=)) - ATP1A2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.152G>A r.(?) p.(Arg51His) - VUS g.160091016G>A - ATP1A2(NM_000702.2):c.152G>A (p.R51H), ATP1A2(NM_000702.3):c.152G>A (p.(Arg51His)) - ATP1A2_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.152G>A r.(?) p.(Arg51His) - likely benign g.160091016G>A - ATP1A2(NM_000702.2):c.152G>A (p.R51H), ATP1A2(NM_000702.3):c.152G>A (p.(Arg51His)) - ATP1A2_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - 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
-/. - 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
?/? 3 c.193C>T r.(?) p.Arg65Trp - VUS g.160093018C>T g.160123228C>T - - ATP1A2_000001 Protein location: N-terminus - - - Germline - - - - - Boukje de Vries
+?/? 4 c.193C>T r.(?) p.(Arg65Trp) - likely pathogenic g.160093018C>T g.160123228C>T - - ATP1A2_000001 not in 400 controls PubMed: Tonelli 2007 - - Germline - - - - - Paola Carrera
+?/? 4 c.193C>T r.(?) p.(Arg65Trp) - likely pathogenic g.160093018C>T g.160123228C>T - - ATP1A2_000001 not in 400 controls PubMed: Tonelli 2007 - - Germline - - - - - Paola Carrera
+?/? 4 c.193C>T r.(?) p.(Arg65Trp) - likely pathogenic g.160093018C>T g.160123228C>T - - ATP1A2_000001 not in 400 controls PubMed: Tonelli 2007 - - Germline - - - - - Paola Carrera
+/. - c.311T>C r.(?) p.(Ile104Thr) - pathogenic g.160093136T>C g.160123346T>C - - ATP1A2_000102 - - - - Germline - - - - - Andreas Laner
?/. - 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
?/. - c.340G>A r.(?) p.(Gly114Ser) - VUS g.160093165G>A - ATP1A2(NM_000702.3):c.340G>A (p.(Gly114Ser)) - ATP1A2_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.340G>A r.(?) p.(Gly114Ser) - VUS g.160093165G>A - - - ATP1A2_000164 - PubMed: Schalk 2022 - - Germline - - - - - Johan den Dunnen
+/+ 4 c.359A>C r.(?) p.Glu120Ala - pathogenic g.160093184A>C g.160123394A>C - - ATP1A2_000059 Protein location: M1-M2 - - - Germline - - - - - Boukje de Vries
+?/+? 4 c.359A>C r.(?) p.(Glu120Ala) - likely pathogenic g.160093184A>C g.160123394A>C nt463A>C - ATP1A2_000059 not in 300 controls; tested expression in vitro PubMed: de Vries 2007 - - Germline - - - - - Paola Carrera
-?/. - c.381+3G>A r.spl? p.? - likely benign g.160093209G>A - ATP1A2(NM_000702.3):c.381+3G>A (p.?) - ATP1A2_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/? 4i c.381+16C>T r.(?) p.(=) - benign g.160093222C>T g.160123432C>T - - ATP1A2_000078 - - - rs2820581 Germline - - - - - Johan den Dunnen
-/. - c.381+16C>T r.(=) p.(=) - benign g.160093222C>T g.160123432C>T ATP1A2(NM_000702.4):c.381+16C>T - ATP1A2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.381+16C>T r.(=) p.(=) - benign g.160093222C>T g.160123432C>T ATP1A2(NM_000702.4):c.381+16C>T - ATP1A2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.381+22G>A r.(=) p.(=) - VUS g.160093228G>A g.160123438G>A - - ATP1A2_000103 - - - - Germline - - - - - Andreas Laner
-/. - c.382-41G>T r.(=) p.(=) - benign g.160093692G>T g.160123902G>T - - ATP1A2_000091 - - - rs41265765 Germline - - - - - Andreas Laner
-/. - 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 - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/? 5 c.413T>C r.(?) p.Val138Ala - likely pathogenic g.160093764T>C g.160123974T>C - - ATP1A2_000033 Protein location: M2 - - - Germline - - - - - Boukje de Vries
+?/? 5 c.413T>C r.(?) p.(Val138Ala) - likely pathogenic g.160093764T>C g.160123974T>C - - ATP1A2_000033 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+?/? 5 c.413T>C r.(?) p.(Val138Ala) - likely pathogenic g.160093764T>C g.160123974T>C - - ATP1A2_000033 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+?/? 5 c.413T>C r.(?) p.(Val138Ala) - likely pathogenic g.160093764T>C g.160123974T>C - - ATP1A2_000033 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+?/? 5 c.413T>C r.(?) p.(Val138Ala) - likely pathogenic g.160093764T>C g.160123974T>C - - ATP1A2_000033 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+?/? 5 c.413T>C r.(?) p.(Val138Ala) - likely pathogenic g.160093764T>C g.160123974T>C - - ATP1A2_000033 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+/. - c.464_472dup r.(?) p.(Asp157_Ser158insPheMetAsp) - pathogenic g.160093815_160093823dup g.160124025_160124033dup - - ATP1A2_000092 - - - - Germline - - - - - Andreas Laner
?/? 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
?/? 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
-?/-? 5i c.495+65C>T r.(?) p.(=) - likely benign g.160093911C>T - - - ATP1A2_000038 not in 50 controls Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Riant 2005 - rs2820582 Germline - - - - - Paola Carrera
-/? 5i c.495+65T>C r.(?) p.(=) - benign g.160093911T>C g.160124121T>C - - ATP1A2_000038 - - - rs2820582 Germline - - - - - Johan den Dunnen
-/? 5i c.495+81T>A r.(?) p.(=) - benign g.160093927T>A g.160124137T>A - - ATP1A2_000039 - - - rs2854248 Germline - - - - - Johan den Dunnen
-?/-? 5i c.495+81T>A r.(?) p.(=) - likely benign g.160093927T>A g.160124137T>A - - ATP1A2_000039 - PubMed: Riant 2005 - rs2854248 Germline - 0.5 in 50 - - - Paola Carrera
-/? 5i c.495+96G>A r.(?) p.(=) - benign g.160093942G>A g.160124152G>A - - ATP1A2_000042 - - - rs17846707 Germline - - - - - Johan den Dunnen
-?/-? 5i c.495+96G>A r.(?) p.(=) - likely benign g.160093942G>A g.160124152G>A - - ATP1A2_000042 17846707 PubMed: Riant 2005 - rs17846707 Germline - 0.32 in 50 rs - - Paola Carrera
?/. - 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
-?/. - c.589G>A r.(?) p.(Val197Ile) - likely benign g.160094179G>A g.160124389G>A ATP1A2(NM_000702.2):c.589G>A (p.V197I), ATP1A2(NM_000702.3):c.589G>A (p.(Val197Ile)) - ATP1A2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.589G>A r.(?) p.(Val197Ile) - likely benign g.160094179G>A - ATP1A2(NM_000702.2):c.589G>A (p.V197I), ATP1A2(NM_000702.3):c.589G>A (p.(Val197Ile)) - ATP1A2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 6 c.605G>A r.(?) p.Arg202Gln - pathogenic g.160094195G>A g.160124405G>A - - ATP1A2_000034 Protein location: M2-M3 - - - Germline - - - - - Boukje de Vries
+?/? 6 c.605G>A r.(?) p.(Arg202Gln) - likely pathogenic g.160094195G>A g.160124405G>A - - ATP1A2_000034 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+?/? 6 c.605G>A r.(?) p.(Arg202Gln) - likely pathogenic g.160094195G>A g.160124405G>A - - ATP1A2_000034 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+?/? 6 c.605G>A r.(?) p.(Arg202Gln) - likely pathogenic g.160094195G>A g.160124405G>A - - ATP1A2_000034 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+?/? 6 c.605G>A r.(?) p.(Arg202Gln) - likely pathogenic g.160094195G>A g.160124405G>A - - ATP1A2_000034 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+?/? 6 c.605G>A r.(?) p.(Arg202Gln) - likely pathogenic g.160094195G>A g.160124405G>A - - ATP1A2_000034 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+?/? 6 c.605G>A r.(?) p.(Arg202Gln) - likely pathogenic g.160094195G>A g.160124405G>A - - ATP1A2_000034 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+?/? 6 c.605G>A r.(?) p.(Arg202Gln) - likely pathogenic g.160094195G>A g.160124405G>A - - ATP1A2_000034 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+?/? 6 c.605G>A r.(?) p.(Arg202Gln) - likely pathogenic g.160094195G>A g.160124405G>A - - ATP1A2_000034 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+?/? 6 c.605G>A r.(?) p.(Arg202Gln) - likely pathogenic g.160094195G>A g.160124405G>A - - ATP1A2_000034 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+?/? 6 c.605G>A r.(?) p.(Arg202Gln) - likely pathogenic g.160094195G>A g.160124405G>A - - ATP1A2_000034 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+?/? 6 c.605G>A r.(?) p.(Arg202Gln) - likely pathogenic g.160094195G>A g.160124405G>A - - ATP1A2_000034 not in 460 controls PubMed: Thomsen 2007 - - Germline - - - - - Paola Carrera
+?/. - c.626G>A r.(?) p.(Cys209Tyr) - likely pathogenic g.160094216G>A - - - ATP1A2_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - 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
+/. - c.659C>T r.(?) p.(Ser220Leu) - pathogenic g.160094954C>T g.160125164C>T - - ATP1A2_000093 - - - - Germline - - - - - Andreas Laner
?/. - 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
?/. - c.713G>A r.(?) p.(Arg238His) - VUS g.160095008G>A - ATP1A2(NM_000702.2):c.713G>A (p.R238H) - ATP1A2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.748G>A r.(?) p.(Gly250Ser) - VUS g.160095043G>A - ATP1A2(NM_000702.4):c.748G>A (p.G250S) - ATP1A2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/? 7i c.749-27C>A r.(?) p.(=) - benign g.160097315C>A g.160127525C>A - - ATP1A2_000043 - - - rs2295623 Germline - - - - - Johan den Dunnen
-?/-? 7i c.749-27C>A r.(?) p.(=) - likely benign g.160097315C>A g.160127525C>A - - ATP1A2_000043 2295623 PubMed: Riant 2005 - rs2295623 Germline - 0.20 in 50 rs - - Paola Carrera
+?/+? 8 c.788C>T r.(?) p.Thr263Met - likely pathogenic g.160097381C>T g.160127591C>T - - ATP1A2_000002 Protein location: M2-M3 - - - Germline - - - - - Boukje de Vries
+?/? 8 c.788C>T r.(?) p.(Thr263Met) - likely pathogenic g.160097381C>T g.160127591C>T - - ATP1A2_000002 not in 200 controls PubMed: Riant 2005 - - Germline - - - - - Paola Carrera
-?/. - 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
-?/. - c.836G>A r.(?) p.(Arg279Gln) - likely benign g.160097429G>A - ATP1A2(NM_000702.3):c.836G>A (p.(Arg279Gln)) - ATP1A2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.848C>T r.(?) p.(Ala283Val) - VUS g.160097441C>T g.160127651C>T - - ATP1A2_000094 - - - - Germline - - - - - Andreas Laner
?/? 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
+/+ 8 c.858T>C r.(?) p.Ile286Thr - pathogenic g.160097451T>C g.160127661T>C - - ATP1A2_000073 Protein location: M2-M3 - - - Germline - - - - - Boukje de Vries
?/. - 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
?/. - c.862C>T r.(?) p.(His288Tyr) - VUS g.160097455C>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_Rotterdam
?/. - 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
+/+? 8 c.901G>A r.(?) p.Gly301Arg - pathogenic g.160097494G>A g.160127704G>A - - ATP1A2_000004 Protein location: M3 - - - Germline - - - - - Boukje de Vries
?/? 8 c.901G>A r.(?) p.(Gly301Arg) - VUS g.160097494G>A g.160127704G>A - - ATP1A2_000004 - PubMed: Spadaro 2004 - - Germline - - - - - Paola Carrera
?/? 8 c.901G>A r.(?) p.(Gly301Arg) - VUS g.160097494G>A g.160127704G>A - - ATP1A2_000004 - PubMed: Spadaro 2004 - - Germline - - - - - Paola Carrera
?/? 8 c.901G>A r.(?) p.(Gly301Arg) - VUS g.160097494G>A g.160127704G>A - - ATP1A2_000004 - PubMed: Spadaro 2004 - - Germline - - - - - Paola Carrera
?/? 8 c.901G>A r.(?) p.(Gly301Arg) - VUS g.160097494G>A g.160127704G>A - - ATP1A2_000004 - PubMed: Spadaro 2004 - - Germline - - - - - Paola Carrera
?/? 8 c.901G>A r.(?) p.(Gly301Arg) - VUS g.160097494G>A g.160127704G>A - - ATP1A2_000004 - PubMed: Spadaro 2004 - - Germline - - - - - Paola Carrera
?/? 8 c.901G>A r.(?) p.(Gly301Arg) - VUS g.160097494G>A g.160127704G>A - - ATP1A2_000004 - PubMed: Spadaro 2004 - - Germline - - - - - Paola Carrera
?/? 8 c.901G>A r.(?) p.(Gly301Arg) - VUS g.160097494G>A g.160127704G>A - - ATP1A2_000004 - PubMed: Spadaro 2004 - - Germline - - - - - Paola Carrera
?/? 8 c.901G>A r.(?) p.(Gly301Arg) - VUS g.160097494G>A g.160127704G>A - - ATP1A2_000004 - PubMed: Spadaro 2004 - - Germline - - - - - Paola Carrera
?/? 8 c.901G>A r.(?) p.(Gly301Arg) - VUS g.160097494G>A g.160127704G>A - - ATP1A2_000004 - PubMed: Spadaro 2004 - - Germline - - - - - Paola Carrera
-?/. - 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
+?/. - c.997G>A r.(?) p.(Gly333Arg) - likely pathogenic g.160097590G>A - - - ATP1A2_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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