GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SDHD M1Iinsufficiently evaluated pathogenicunknown

(59 web hits)

SDHD M1Vinsufficiently evaluated pathogenicunknown

(62 web hits)

SDHD W5Xinsufficiently evaluated pathogenicunknown

(9 web hits)

SDHD C11Xinsufficiently evaluated pathogenicunknown

(14 web hits)

SDHD G12Suncertain benign, f=0.008unknown

Reported to increase risk of Cowden disease, although this was already contradicted by a prior report of it as a non-pathogenic polymorphism. The report claiming a pathogenic effect (Ni et al.) may have had errors in analysis, and their observation of the variant in patients isn’t different from the frequency of the variant in ExAC data.

(140 web hits)

var-GS10851-1100-36-ASM
var-GS20502-1100-36-ASM
SDHD R22Xinsufficiently evaluated pathogenicunknown

(236 web hits)

SDHD S32Xinsufficiently evaluated pathogenicunknown

(5 web hits)

SDHD Q36Xinsufficiently evaluated pathogenicunknown

(4 web hits)

SDHD R38Xinsufficiently evaluated pathogenicunknown

(40 web hits)

SDHD W43Xinsufficiently evaluated pathogenicunknown

(63 web hits)

SDHD H50Runcertain benign, f=0.007unknown

Probably benign. Other mutations in this gene are implicated in causing hereditary paraganglioma or pheochromocytoma syndromes, but this variant is also found in unaffected controls and is considered a nonpathogenic polymorphism by most authors that have reported it.

(124 web hits)

CGI sample GS01175-DNA_D01 from PGP sample 31286272
SDHD P81Linsufficiently evaluated pathogenicunknown

(93 web hits)

SDHD D92Yinsufficiently evaluated pathogenicunknown

(110 web hits)

SDHD H102Linsufficiently evaluated pathogenicunknown

(18 web hits)

SDHD Y114Cinsufficiently evaluated pathogenicunknown

(22 web hits)

SDHD L139Pinsufficiently evaluated pathogenicunknown

(28 web hits)

SDHD H145Ninsufficiently evaluated pathogenicunknown

(2 web hits)

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Total results: 17

Gene search

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