GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ALAS2 D159Ninsufficiently evaluated pathogenicunknown

(4 web hits)

ALAS2 D159Yinsufficiently evaluated pathogenicunknown

(11 web hits)

ALAS2 F165Linsufficiently evaluated pathogenicunknown

(12 web hits)

ALAS2 A172Tinsufficiently evaluated pathogenicunknown

(12 web hits)

ALAS2 R181Cinsufficiently evaluated noneunknown
ALAS2 D190Vinsufficiently evaluated pathogenicunknown

(7 web hits)

ALAS2 Y199Hinsufficiently evaluated pathogenicunknown

(18 web hits)

ALAS2 R205Cinsufficiently evaluated noneunknown
ALAS2 R218Cinsufficiently evaluated none, f=0.011unknown

(1 web hit)

CGI sample GS00253-DNA_A02_200_37
ALAS2 G291Sinsufficiently evaluated pathogenicunknown

(3 web hits)

ALAS2 K299Qinsufficiently evaluated pathogenicunknown

(19 web hits)

ALAS2 T388Sinsufficiently evaluated pathogenicunknown

(3 web hits)

ALAS2 C395Yinsufficiently evaluated pathogenicunknown

(3 web hits)

ALAS2 R411Cinsufficiently evaluated pathogenicunknown

(63 web hits)

ALAS2 R452Cinsufficiently evaluated pathogenicunknown

(18 web hits)

ALAS2 I471Ninsufficiently evaluated pathogenicunknown
ALAS2 R522Hinsufficiently evaluated not reviewedunknown
ALAS2 H524Dinsufficiently evaluated pathogenicunknown

(3 web hits)

ALAS2 R546Hinsufficiently evaluated not reviewedunknown
ALAS2 R559Hinsufficiently evaluated not reviewed, f=0.002unknown CGI sample GS00253-DNA_E01_200_37 (hom)
var-GS19669-1100-36-ASM
ALAS2 S568Ginsufficiently evaluated pathogenicunknown

(2 web hits)

Page: 1 2 3
Total results: 21

Gene search

"GENE" or "GENE A123C":

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