GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ATP2C1 V231Iinsufficiently evaluated not reviewed, f=0.004unknown var-GS19701-1100-36-ASM
ATP2C1 K289Rinsufficiently evaluated not reviewedunknown
ATP2C1 A304Tinsufficiently evaluated pathogenicunknown
ATP2C1 F383Yinsufficiently evaluated not reviewed, f=0.000unknown var-GS19703-1100-36-ASM
ATP2C1 A450Tinsufficiently evaluated not reviewed, f=0.010unknown var-GS18501-1100-36-ASM
var-GS19704-1100-36-ASM
ATP2C1 R468Xinsufficiently evaluated pathogenicunknown

(6 web hits)

ATP2C1 C490Finsufficiently evaluated pathogenicunknown

(4 web hits)

ATP2C1 T537Kinsufficiently evaluated noneunknown
ATP2C1 L541Finsufficiently evaluated not reviewed, f=0.005unknown var-GS18505-1100-36-ASM
ATP2C1 L584Pinsufficiently evaluated pathogenicunknown

(4 web hits)

Total results: 10

Gene search

"GENE" or "GENE A123C":

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