GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ALG12 D56Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
ALG12 T61Minsufficiently evaluated pathogenicunknown

(16 web hits)

ALG12 G101Rinsufficiently evaluated pathogenicunknown

(7 web hits)

ALG12 R120Qinsufficiently evaluated not reviewed, f=0.002unknown var-GS12004-1100-36-ASM
ALG12 F142Vinsufficiently evaluated pathogenicunknown

(9 web hits)

ALG12 R146Qinsufficiently evaluated pathogenic, f=0.000unknown

(26 web hits)

ALG12 L158Pinsufficiently evaluated pathogenicunknown

(2 web hits)

ALG12 R211Cinsufficiently evaluated not reviewed, f=0.004unknown var-GS18537-1100-36-ASM
var-GS18940-1100-36-ASM
ALG12 R233Qinsufficiently evaluated not reviewed, f=0.006unknown var-GS18501-1100-36-ASM
ALG12 I393Vinsufficiently evaluated not reviewed, f=0.090unknown hu34D5B9 exome
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19648-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19669-1100-36-ASM
ALG12 Y414Xinsufficiently evaluated pathogenicunknown

(1 web hit)

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Total results: 11

Gene search

"GENE" or "GENE A123C":

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