GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MCOLN1 R102Xinsufficiently evaluated pathogenicunknown

(6 web hits)

MCOLN1 S257Rinsufficiently evaluated not reviewed, f=0.010unknown var-GS18504-1100-36-ASM
MCOLN1 T261Minsufficiently evaluated none, f=0.003unknown CGI sample GS000006909
MCOLN1 R321Xinsufficiently evaluated pathogenicunknown
MCOLN1 E349Vinsufficiently evaluated not reviewedunknown
MCOLN1 D362Yinsufficiently evaluated pathogenicunknown

(18 web hits)

MCOLN1 R403Cinsufficiently evaluated pathogenicunknown

(13 web hits)

Total results: 7

Gene search

"GENE" or "GENE A123C":

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