GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TERT A202Tinsufficiently evaluated pathogenic, f=0.000unknown

(7 web hits)

TERT A279Tuncertain benign, f=0.020undefined

Reported as a rare but probably nonpathogenic polymorphism occurring in controls as well as patients. Other defects in this gene are associated with telomere shortening which may cause aplastic anemia or dyskeratosis congenita.

(8 web hits)

CGI sample GS00253-DNA_B01_200_37
TERT E280Kinsufficiently evaluated noneunknown

(1 web hit)

TERT H412Yuncertain pathogenic, f=0.003dominant

Hypothesized to cause increased risk of aplastic anemia, but no statistically significant data (this implies that if this variant causes increased risk, it is likely quite small — too small to produce a significant enrichment).

(19 web hits)

TERT E441Delinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
TERT D516Vinsufficiently evaluated not reviewedunknown
TERT I589Vinsufficiently evaluated not reviewedunknown CGI sample GS000005532
TERT A615Tinsufficiently evaluated not reviewedunknown
TERT R691Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS18501-1100-36-ASM
TERT V694Minsufficiently evaluated pathogenic, f=0.000unknown

(6 web hits)

TERT Y772Cinsufficiently evaluated pathogenicunknown

(2 web hits)

TERT R865Hinsufficiently evaluated pathogenic, f=0.000unknown

(9 web hits)

TERT K902Ninsufficiently evaluated pathogenicunknown

(3 web hits)

TERT A1062Tinsufficiently evaluated not reviewed, f=0.016unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
TERT V1090Minsufficiently evaluated pathogenic, f=0.000unknown

(1 web hit)

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Total results: 15

Gene search

"GENE" or "GENE A123C":

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