GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LAMB3 L6Finsufficiently evaluated not reviewed, f=0.000unknown
LAMB3 R42Xinsufficiently evaluated pathogenicunknown

(63 web hits)

LAMB3 D111Ginsufficiently evaluated none, f=0.003unknown

(2 web hits)

LAMB3 R144Xinsufficiently evaluated not reviewedunknown

(7 web hits)

LAMB3 Q166Xinsufficiently evaluated pathogenicunknown

(12 web hits)

LAMB3 N181Dinsufficiently evaluated none, f=0.016unknown

(1 web hit)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19735-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18947-1100-36-ASM
LAMB3 M194Iinsufficiently evaluated noneunknown
LAMB3 G199Ainsufficiently evaluated pathogenicunknown

(20 web hits)

LAMB3 K207Qinsufficiently evaluated pathogenicunknown

(19 web hits)

LAMB3 E210Kinsufficiently evaluated pathogenicunknown

(70 web hits)

LAMB3 R230Tinsufficiently evaluated not reviewed, f=0.006unknown var-GS19025-1100-36-ASM
LAMB3 Q243Xinsufficiently evaluated not reviewedunknown

(12 web hits)

LAMB3 A260Tinsufficiently evaluated noneunknown
LAMB3 S438Tinsufficiently evaluated none, f=0.044unknown

(2 web hits)

var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
LAMB3 P480Linsufficiently evaluated not reviewed, f=0.004unknown var-GS19026-1100-36-ASM (hom)
LAMB3 R517Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
LAMB3 V527Minsufficiently evaluated none, f=0.108unknown

(6 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
var-GS19701-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS18508-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
LAMB3 R539Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
LAMB3 W610Xinsufficiently evaluated pathogenicunknown

(33 web hits)

LAMB3 R635Xinsufficiently evaluated pathogenic, f=0.000recessive

This variant is known to cause Herlitz-Junctional Epidermolysis Bullosa, which causes skin blistering and is lethal within weeks or months of birth.

(181 web hits)

LAMB3 N690Sinsufficiently evaluated none, f=0.017unknown

(1 web hit)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01669-DNA_A04 from PGP sample 08188426
LAMB3 M695Vinsufficiently evaluated not reviewedunknown
LAMB3 R716Qinsufficiently evaluated not reviewed, f=0.001unknown var-GS19025-1100-36-ASM
LAMB3 R754Winsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
LAMB3 R848Winsufficiently evaluated none, f=0.016unknown

(2 web hits)

var-GS19239-1100-36-ASM
var-GS19129-1100-36-ASM
LAMB3 M852Linsufficiently evaluated none, f=0.120unknown

(2 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19017-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS20509-1100-36-ASM
LAMB3 T872Ninsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
LAMB3 T908Iinsufficiently evaluated not reviewed, f=0.021unknown var-GS18501-1100-36-ASM
LAMB3 A926Dinsufficiently evaluated none, f=0.017unknown

(4 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01669-DNA_A04 from PGP sample 08188426
LAMB3 Q936Xinsufficiently evaluated pathogenicunknown

(7 web hits)

LAMB3 R961Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
LAMB3 D982Ginsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
LAMB3 R1042Winsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19704-1100-36-ASM
LAMB3 Q1061Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS20509-1100-36-ASM
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Total results: 34

Gene search

"GENE" or "GENE A123C":

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