GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CAV3 V14Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
CAV3 V14Linsufficiently evaluated pathogenicunknown

(16 web hits)

CAV3 R27Qinsufficiently evaluated pathogenicunknown

(56 web hits)

CAV3 D28Einsufficiently evaluated pathogenicunknown
CAV3 P29Linsufficiently evaluated pathogenicunknown
CAV3 N33Kinsufficiently evaluated pathogenicunknown

(1 web hit)

CAV3 A46Tinsufficiently evaluated pathogenicunknown

(12 web hits)

CAV3 A46Vinsufficiently evaluated pathogenicunknown

(3 web hits)

CAV3 E47Kinsufficiently evaluated pathogenicunknown
CAV3 G56Spathogenic, f=0.038recessive

This variant has been implicated in causing limb-girdle dystrophy in a recessive manner, but it has only been seen homozygously once in a single patient and has been seen heterozygously in controls, so case/control data lacks significance.

(11 web hits)

var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18508-1100-36-ASM
CAV3 T64Sinsufficiently evaluated pathogenicunknown

(1 web hit)

CAV3 C72Wuncertain benign, f=0.001unknown

Initially proposed as possibly causing muscular dystrophy, but later study concluded the variant is a rare nonpathogenic polymorphism.

(11 web hits)

CGI sample GS01175-DNA_A04 from PGP sample 13272228
CAV3 T78Mpathogenic, f=0.004dominant

This variant was implicated in causing Long QT-Syndrome (LQT9) and sudden infant death syndrome, but the evidence fails to reach significance and functional study failed to find a significance difference in biochemical behavior.

(43 web hits)

CAV3 L79Rinsufficiently evaluated pathogenicunknown

(17 web hits)

CAV3 V82Iinsufficiently evaluated not reviewedunknown
CAV3 A85Tinsufficiently evaluated pathogenicunknown

(9 web hits)

CAV3 L87Pinsufficiently evaluated pathogenic, f=0.000unknown

(2 web hits)

CAV3 A93Tinsufficiently evaluated pathogenicunknown

(1 web hit)

CAV3 F97Cinsufficiently evaluated pathogenicunknown

(15 web hits)

CAV3 P105Linsufficiently evaluated pathogenicunknown

(4 web hits)

CAV3 S141Rinsufficiently evaluated pathogenicunknown

(11 web hits)

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Total results: 21

Gene search

"GENE" or "GENE A123C":

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