GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SDHB A3Ginsufficiently evaluated pathogenic, f=0.014dominant

This variant is associated with Cowden-like Syndrome where it was found in Caucasian individual and not found in Caucasian controls. It is not associated with paraganglioma.

(24 web hits)

SDHB R11Hinsufficiently evaluated not reviewed, f=0.002unknown

(1 web hit)

SDHB R27Xinsufficiently evaluated pathogenicunknown

(61 web hits)

SDHB R46Ginsufficiently evaluated pathogenicunknown

(18 web hits)

SDHB R90Xinsufficiently evaluated pathogenicunknown

(25 web hits)

SDHB S100Finsufficiently evaluated pathogenicunknown

(9 web hits)

SDHB C101Yinsufficiently evaluated pathogenicunknown

(10 web hits)

SDHB H132Pinsufficiently evaluated pathogenicunknown

(53 web hits)

SDHB S163Puncertain benign, f=0.010unknown

We evaluate as uncertain but presumed benign. One report linked this variant to Cowden-like syndromes, but the significance of their findings is unclear and other reports treat this as a non-pathological variation.

(19 web hits)

CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS19669-1100-36-ASM
SDHB P197Rinsufficiently evaluated pathogenicunknown

(21 web hits)

SDHB R242Hinsufficiently evaluated pathogenicunknown

(33 web hits)

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Total results: 11

Gene search

"GENE" or "GENE A123C":

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