GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LAMB2 P37Ainsufficiently evaluated not reviewed, f=0.003unknown var-GS19834-1100-36-ASM
LAMB2 N102Kinsufficiently evaluated not reviewedunknown
LAMB2 R246Qinsufficiently evaluated pathogenicunknown

(13 web hits)

LAMB2 R246Winsufficiently evaluated pathogenicunknown

(12 web hits)

LAMB2 C321Rinsufficiently evaluated pathogenicunknown

(1 web hit)

LAMB2 C374Xinsufficiently evaluated pathogenicunknown
LAMB2 D531Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
LAMB2 R575Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_D02 from PGP sample 27316983
LAMB2 P629Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
LAMB2 Y689Xinsufficiently evaluated pathogenicunknown
LAMB2 R812Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS18558-1100-36-ASM
LAMB2 G914Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_B05 from PGP sample 86486261
LAMB2 E987Kinsufficiently evaluated none, f=0.096unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_C01_200_37
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
LAMB2 E1109Kinsufficiently evaluated none, f=0.000unknown var-GS18555-1100-36-ASM
var-GS18956-1100-36-ASM
LAMB2 C1143Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
LAMB2 R1148Hinsufficiently evaluated not reviewed, f=0.007unknown var-GS19020-1100-36-ASM
LAMB2 P1185Ainsufficiently evaluated not reviewedunknown
LAMB2 E1271Shiftinsufficiently evaluated not reviewed, f=0.008unknown
LAMB2 R1345Hinsufficiently evaluated none, f=0.004unknown var-GS18517-1100-36-ASM
LAMB2 I1533Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
LAMB2 R1592Winsufficiently evaluated not reviewed, f=0.015unknown var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS18508-1100-36-ASM
LAMB2 A1765Pinsufficiently evaluated not reviewedunknown
LAMB2 A1765Tinsufficiently evaluated not reviewed, f=0.022unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS20502-1100-36-ASM
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Total results: 23

Gene search

"GENE" or "GENE A123C":

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