List of variants in gene ATP1A2 reported as likely pathogenic for central nervous system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 39

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000702.4(ATP1A2):c.2563+2T>C	rs775008062	0.00003
NM_000702.4(ATP1A2):c.1811G>A (p.Arg604Gln)	rs747238010	0.00002
NM_000702.4(ATP1A2):c.2876C>T (p.Thr959Met)	rs1226796744	0.00002
NM_000702.4(ATP1A2):c.1042C>T (p.Arg348Cys)	rs765818392	0.00001
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His)	rs765909830	0.00001
NM_000702.4(ATP1A2):c.1888A>C (p.Ile630Leu)	rs1382260409	0.00001
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn)	rs121918614	0.00001
NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr)	rs121918617	0.00001
NM_000702.4(ATP1A2):c.1022G>A (p.Cys341Tyr)
NM_000702.4(ATP1A2):c.1096G>A (p.Gly366Ser)	rs1553244883
NM_000702.4(ATP1A2):c.1103C>T (p.Thr368Met)	rs746383817
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn)	rs28934002
NM_000702.4(ATP1A2):c.12+1G>A
NM_000702.4(ATP1A2):c.1408_1409del (p.Asp470fs)
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)	rs121918616
NM_000702.4(ATP1A2):c.1652-1G>T
NM_000702.4(ATP1A2):c.1843G>A (p.Gly615Arg)	rs770053423
NM_000702.4(ATP1A2):c.1965-2A>G
NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs)	rs1558008455
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr)	rs28933400
NM_000702.4(ATP1A2):c.2284+1G>A
NM_000702.4(ATP1A2):c.2336G>A (p.Ser779Asn)	rs2101995480
NM_000702.4(ATP1A2):c.2424C>G (p.Asp808Glu)	rs1570994712
NM_000702.4(ATP1A2):c.2434G>C (p.Asp812His)	rs1558008759
NM_000702.4(ATP1A2):c.2485A>G (p.Met829Val)	rs2101995847
NM_000702.4(ATP1A2):c.2501G>T (p.Arg834Leu)
NM_000702.4(ATP1A2):c.2564G>A (p.Gly855Glu)	rs149144720
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln)	rs2101996488
NM_000702.4(ATP1A2):c.2809C>T (p.Arg937Cys)	rs1558009266
NM_000702.4(ATP1A2):c.2809del (p.Arg937fs)	rs1651974671
NM_000702.4(ATP1A2):c.2810G>A (p.Arg937His)	rs1553245943
NM_000702.4(ATP1A2):c.3020G>A (p.Arg1007Gln)
NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter)	rs1570998206
NM_000702.4(ATP1A2):c.381+1G>A	rs2101985522
NM_000702.4(ATP1A2):c.495+2T>C
NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met)	rs777400961
NM_000702.4(ATP1A2):c.835del (p.Arg279fs)	rs1558005340
NM_000702.4(ATP1A2):c.902G>A (p.Gly301Glu)
NM_000702.4(ATP1A2):c.910TTC[1] (p.Phe305del)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.