GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ATP1A2 R3Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
ATP1A2 Y9Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
ATP1A2 R65Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
ATP1A2 R65Wlikely pathogenic, f=0.000dominant

Hypothesized to cause familial hemiplagic migraine type 2 in a dominant manner, which causes migraine with associated motor weakness as well as aura. This variant was reported seen in only one family; not enough evidence has been reported to establish a statistically significant association with the disease.

(1 web hit)

ATP1A2 I204Ninsufficiently evaluated not reviewedunknown
ATP1A2 I286Tinsufficiently evaluated pathogenicunknown

(3 web hits)

ATP1A2 G301Rinsufficiently evaluated pathogenicunknown

(55 web hits)

ATP1A2 T345Ainsufficiently evaluated pathogenicunknown

(33 web hits)

ATP1A2 T376Minsufficiently evaluated pathogenicunknown

(24 web hits)

ATP1A2 T378Ninsufficiently evaluated pathogenicunknown

(18 web hits)

ATP1A2 R383Hlikely pathogenicdominant

Reported to cause disease in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/variation/204886/). The putative condition wasn’t specified by the submitter GeneDx, which classified it as “likely pathogenic”, but other variants are reported to have cause dominant disorders involving hemiplagia (paralysis or weakness of half the body) and migraine. The specific evidence supporting this variant’s effect is unknown and presumably unpublished.

ATP1A2 T415Minsufficiently evaluated pathogenicunknown

(3 web hits)

ATP1A2 R548Hinsufficiently evaluated pathogenicunknown

(24 web hits)

ATP1A2 V661Shiftinsufficiently evaluated not reviewedunknown var-GS19704-1100-36-ASM
ATP1A2 T671Ainsufficiently evaluated not reviewedunknown
ATP1A2 R689Qinsufficiently evaluated pathogenicunknown

(43 web hits)

ATP1A2 D718Ninsufficiently evaluated pathogenicunknown

(19 web hits)

ATP1A2 M731Tinsufficiently evaluated pathogenicunknown

(61 web hits)

ATP1A2 L764Pinsufficiently evaluated pathogenicunknown

(52 web hits)

ATP1A2 I883Ninsufficiently evaluated noneunknown
ATP1A2 W887Rinsufficiently evaluated pathogenicunknown

(40 web hits)

ATP1A2 P979Linsufficiently evaluated pathogenicunknown

(31 web hits)

Page: 1 2 3
Total results: 22

Gene search

"GENE" or "GENE A123C":

Log in