GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
TSC1 A84Tinsufficiently evaluated none, f=0.000unknown

(3 web hits)

TSC1 C165Xinsufficiently evaluated pathogenicunknown

(3 web hits)

TSC1 L180Pinsufficiently evaluated pathogenicunknown

(4 web hits)

TSC1 M224Rinsufficiently evaluated pathogenicunknown

(12 web hits)

TSC1 L250Xinsufficiently evaluated pathogenicunknown

(1 web hit)

TSC1 M271Tinsufficiently evaluated not reviewedunknown
TSC1 T309Ninsufficiently evaluated not reviewedunknown
TSC1 M322Tinsufficiently evaluated not reviewed, f=0.167unknown

(11 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
var-GS19239-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
TSC1 T360Ninsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_D01_200_37
TSC1 P448Sinsufficiently evaluated not reviewed, f=0.004unknown var-GS18508-1100-36-ASM
TSC1 K585Rinsufficiently evaluated pathogenicunknown

(3 web hits)

TSC1 Q654Einsufficiently evaluated pathogenicdominant

Found in three Southeast Asian individuals with Tuberous Sclerosis and in one fetus (later born live with cardiac rhabdomyoma). Case/control data has a significance of p = 0.08 (rare variant, needs more controls) and computational evidence does not support pathogenicity.

(5 web hits)

TSC1 H732Yinsufficiently evaluated pathogenic, f=0.003unknown

(23 web hits)

TSC1 T899Sinsufficiently evaluated pathogenic, f=0.008dominant

This variant was found in one sporadic case of Tuberous Sclerosis in a Japanese individual. Missense mutations are rarely causative for this disease, however.

(2 web hits)

TSC1 S1043Delinsufficiently evaluated not revieweddominant CGI sample GS01669-DNA_B05 from PGP sample 86486261
TSC1 S1043SSinsufficiently evaluated not reviewedunknown hu34D5B9 exome
TSC1 P1058Sinsufficiently evaluated not reviewedunknown
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Total results: 17

Gene search

"GENE" or "GENE A123C":

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