GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LDB3 V55Iinsufficiently evaluated none, f=0.001unknown

(12 web hits)

LDB3 P101Linsufficiently evaluated none, f=0.010unknown var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM
LDB3 D117Ninsufficiently evaluated pathogenicunknown

(5 web hits)

LDB3 V118Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_D05 from PGP sample 1205491
LDB3 K136Minsufficiently evaluated pathogenicunknown

(4 web hits)

LDB3 R139Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
LDB3 A147Tinsufficiently evaluated pathogenicunknown

(11 web hits)

LDB3 A165Vinsufficiently evaluated pathogenicunknown

(13 web hits)

LDB3 R165Qinsufficiently evaluated noneunknown
LDB3 R165Winsufficiently evaluated not reviewed, f=0.000unknown var-GS18537-1100-36-ASM
LDB3 S189Luncertain benignunknown

Proposed to cause dominant dilated cardiomyopathy by Vatta et al 2003 (PMID: 14662268) based on observation in a single, small family. ExAC data indicates 1 out of 880 individuals carries this variant, while familial dilated cardiomyopathy has a prevalence of 1 in 5,000 to 10,000 individuals. Although penetrance for variants is incomplete, this allele frequency is much higher than the disease itself, and this hypothesis should be considered disproven.

LDB3 S196Linsufficiently evaluated pathogenicunknown

(2 web hits)

LDB3 T213Iinsufficiently evaluated pathogenicunknown

(1 web hit)

LDB3 K251Rinsufficiently evaluated not reviewed, f=0.017unknown var-GS21767-1100-36-ASM
var-GS19026-1100-36-ASM
LDB3 S265Finsufficiently evaluated noneunknown
LDB3 R268Cinsufficiently evaluated pathogenicunknown

(7 web hits)

LDB3 P324Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18502-1100-36-ASM
LDB3 T328Ainsufficiently evaluated not reviewedunknown
LDB3 I352Minsufficiently evaluated pathogenicunknown

(1 web hit)

LDB3 S375Finsufficiently evaluated noneunknown

(1 web hit)

LDB3 V426Iinsufficiently evaluated not reviewedunknown
LDB3 S432Yinsufficiently evaluated not reviewed, f=0.009unknown var-GS20509-1100-36-ASM
LDB3 T438Ainsufficiently evaluated not reviewedunknown
LDB3 P441Shiftinsufficiently evaluated not reviewed, f=0.036unknown var-GS18508-1100-36-ASM
LDB3 V525Iinsufficiently evaluated noneunknown
LDB3 V536Iinsufficiently evaluated not reviewed, f=0.000unknown
LDB3 D626Ninsufficiently evaluated pathogenicunknown

(21 web hits)

LDB3 V635Iinsufficiently evaluated none, f=0.023unknown var-GS19025-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
Page: 1 2 3
Total results: 28

Gene search

"GENE" or "GENE A123C":

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