GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SIL1 Q80Rinsufficiently evaluated not reviewed, f=0.008unknown

(1 web hit)

var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
SIL1 R111Xinsufficiently evaluated pathogenicunknown

(5 web hits)

SIL1 T123Iinsufficiently evaluated not reviewedunknown
SIL1 K132Qinsufficiently evaluated none, f=0.028unknown var-GS19020-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
SIL1 R159Winsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
SIL1 K288Delinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
SIL1 V332Muncertain benign, f=0.008unknown

Tentatively evaluated as benign. Polyphen 2 predicts damaging effect, and other recessive variants in this gene are reported to cause Marinesco-Sjogren syndrome, but these are almost all more severe (nonsense or frameshift).

CGI sample GS00253-DNA_B02_200_37
SIL1 E347Kinsufficiently evaluated none, f=0.001unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
SIL1 Q438Xinsufficiently evaluated pathogenicunknown

(3 web hits)

SIL1 L457Pinsufficiently evaluated pathogenicunknown

(5 web hits)

Total results: 10

Gene search

"GENE" or "GENE A123C":

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