ClinVar Miner

List of variants reported as pathogenic for alternating hemiplegia by GeneReviews

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NM_001256214.1(ATP1A3):c.449C>T (p.Ser150Phe) rs542652468
NM_152296.4(ATP1A3):c.2431T>C (p.Ser811Pro) rs387907282
NM_152296.4(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.4(ATP1A3):c.2542+1G>A rs606231441
NM_152296.4(ATP1A3):c.2755_2757delGTC (p.Val919del) rs606231443
NM_152296.4(ATP1A3):c.2767G>T (p.Asp923Tyr) rs267606670
NM_152296.4(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.4(ATP1A3):c.2839G>C (p.Gly947Arg) rs398122887
NM_152296.4(ATP1A3):c.821T>A (p.Ile274Asn) rs80356532
NM_152296.5(ATP1A3):c.1003A>C (p.Thr335Pro) rs606231431
NM_152296.5(ATP1A3):c.1072G>T (p.Gly358Cys) rs606231432
NM_152296.5(ATP1A3):c.1112T>C (p.Leu371Pro) rs606231433
NM_152296.5(ATP1A3):c.2263G>A (p.Gly755Ser) rs557052809
NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys) rs557052809
NM_152296.5(ATP1A3):c.2264G>C (p.Gly755Ala) rs606231434
NM_152296.5(ATP1A3):c.2270T>C (p.Leu757Pro) rs606231436
NM_152296.5(ATP1A3):c.2312C>A (p.Thr771Asn) rs557939077
NM_152296.5(ATP1A3):c.2316C>A (p.Ser772Arg) rs534926223
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser) rs606231437
NM_152296.5(ATP1A3):c.2318A>T (p.Asn773Ile) rs606231437
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) rs80356537
NM_152296.5(ATP1A3):c.2411C>T (p.Thr804Ile) rs606231438
NM_152296.5(ATP1A3):c.2415C>G (p.Asp805Glu) rs606231439
NM_152296.5(ATP1A3):c.2417T>G (p.Met806Arg) rs549006436
NM_152296.5(ATP1A3):c.2428A>T (p.Ile810Phe) rs606231440
NM_152296.5(ATP1A3):c.2429T>G (p.Ile810Ser) rs536681257
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp) rs606231442
NM_152296.5(ATP1A3):c.2780G>A (p.Cys927Tyr) rs606231444
NM_152296.5(ATP1A3):c.2780G>T (p.Cys927Phe) rs606231444
NM_152296.5(ATP1A3):c.2781C>G (p.Cys927Trp) rs606231445
NM_152296.5(ATP1A3):c.2864C>A (p.Ala955Asp) rs606231446
NM_152296.5(ATP1A3):c.2974G>T (p.Asp992Tyr) rs606231447
NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr) rs542652468
NM_152296.5(ATP1A3):c.419A>T (p.Gln140Leu) rs606231427
NM_152296.5(ATP1A3):c.965T>A (p.Val322Asp) rs606231428
NM_152296.5(ATP1A3):c.998G>T (p.Cys333Phe) rs606231430

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