GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SPTLC1 C133Winsufficiently evaluated pathogenicunknown

(85 web hits)

SPTLC1 C133Yinsufficiently evaluated pathogenicunknown

(46 web hits)

SPTLC1 V144Dinsufficiently evaluated pathogenicunknown

(38 web hits)

SPTLC1 R151Linsufficiently evaluated not reviewed, f=0.020unknown hu34D5B9 exome
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS19648-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
SPTLC1 G387Ainsufficiently evaluated pathogenic, f=0.000unknown

(37 web hits)

Total results: 5

Gene search

"GENE" or "GENE A123C":

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