GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC22A12 E70Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
SLC22A12 R90Hinsufficiently evaluated pathogenicunknown

(24 web hits)

SLC22A12 T217Minsufficiently evaluated pathogenicunknown

(3 web hits)

SLC22A12 W258Xlikely pathogenicrecessive

Homozygotes should avoid prolonged strenuous exercise.

(70 web hits)

SLC22A12 E298Dinsufficiently evaluated pathogenicunknown

(2 web hits)

SLC22A12 R342Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
SLC22A12 G361Vinsufficiently evaluated pathogenicunknown

(1 web hit)

SLC22A12 L418Rinsufficiently evaluated pathogenicunknown

(4 web hits)

Total results: 8

Gene search

"GENE" or "GENE A123C":

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