GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
EXT1 Y119Xinsufficiently evaluated pathogenicunknown

(6 web hits)

EXT1 V336Ainsufficiently evaluated not reviewedunknown
EXT1 G339Dinsufficiently evaluated pathogenicunknown

(34 web hits)

EXT1 R340Cinsufficiently evaluated pathogenicunknown

(53 web hits)

EXT1 R340Linsufficiently evaluated pathogenicunknown

(13 web hits)

EXT1 A486Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
Total results: 6

Gene search

"GENE" or "GENE A123C":

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