GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LAMC2 M1Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
LAMC2 R95Xinsufficiently evaluated pathogenicunknown

(26 web hits)

LAMC2 A111Pinsufficiently evaluated none, f=0.039unknown var-GS19703-1100-36-ASM
LAMC2 T124Minsufficiently evaluated none, f=0.067unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19700-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
LAMC2 D136Vinsufficiently evaluated none, f=0.000unknown
LAMC2 A200Einsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
LAMC2 R245Xinsufficiently evaluated pathogenicunknown

(5 web hits)

LAMC2 D247Einsufficiently evaluated none, f=0.034unknown

(1 web hit)

var-GS18942-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_D02 from PGP sample 27316983
var-GS20502-1100-36-ASM
var-GS18947-1100-36-ASM
LAMC2 Y355Xinsufficiently evaluated pathogenicunknown

(3 web hits)

LAMC2 P370Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
LAMC2 AGIYC546Delinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
LAMC2 C553Xinsufficiently evaluated pathogenicunknown

(5 web hits)

LAMC2 P582Sinsufficiently evaluated not reviewedunknown

(1 web hit)

LAMC2 S587Ninsufficiently evaluated not reviewed, f=0.000unknown var-GS19669-1100-36-ASM
LAMC2 L679Finsufficiently evaluated none, f=0.014unknown var-GS19701-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19669-1100-36-ASM
LAMC2 S733Tinsufficiently evaluated none, f=0.163unknown

(9 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18947-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
LAMC2 V769Ainsufficiently evaluated noneunknown
LAMC2 R857Pinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
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Total results: 18

Gene search

"GENE" or "GENE A123C":

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