GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ABHD5 E7Kinsufficiently evaluated pathogenic, f=0.001unknown
ABHD5 S33Xinsufficiently evaluated pathogenicunknown
ABHD5 F68Linsufficiently evaluated not reviewed, f=0.005unknown var-GS19017-1100-36-ASM
ABHD5 R114Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
ABHD5 Q130Pinsufficiently evaluated pathogenicunknown

(4 web hits)

ABHD5 E260Kinsufficiently evaluated pathogenicunknown

(4 web hits)

Total results: 6

Gene search

"GENE" or "GENE A123C":

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