GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ATP2A1 R198Xinsufficiently evaluated pathogenicunknown
ATP2A1 R403Winsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
ATP2A1 E429Dinsufficiently evaluated not reviewed, f=0.008unknown
ATP2A1 R476Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS19834-1100-36-ASM
ATP2A1 P540Linsufficiently evaluated not reviewed, f=0.009unknown var-GS18501-1100-36-ASM
ATP2A1 I611Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
ATP2A1 D650Ninsufficiently evaluated none, f=0.005unknown var-GS18517-1100-36-ASM
ATP2A1 C675Xinsufficiently evaluated pathogenicunknown
ATP2A1 V726Ginsufficiently evaluated not reviewed, f=0.008unknown
ATP2A1 P789Linsufficiently evaluated pathogenicunknown
Total results: 10

Gene search

"GENE" or "GENE A123C":

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