GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GALK1 P28Tinsufficiently evaluated pathogenicunknown

(110 web hits)

GALK1 V32Minsufficiently evaluated pathogenicunknown

(18 web hits)

GALK1 E80Xinsufficiently evaluated pathogenicunknown

(2 web hits)

GALK1 A198Vinsufficiently evaluated pathogenicunknown

(25 web hits)

GALK1 A249Vinsufficiently evaluated not reviewedunknown hu34D5B9 exome
GALK1 R286Qinsufficiently evaluated not reviewed, f=0.002unknown var-GS19834-1100-36-ASM
GALK1 Q382Xinsufficiently evaluated pathogenicunknown

(5 web hits)

Total results: 7

Gene search

"GENE" or "GENE A123C":

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