GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MAN2B1 H71Linsufficiently evaluated pathogenicunknown

(5 web hits)

MAN2B1 R240Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
MAN2B1 P248Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
MAN2B1 A250Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
MAN2B1 L278Vinsufficiently evaluated not reviewed, f=0.321unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37 (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
MAN2B1 T312Iinsufficiently evaluated not reviewed, f=0.458unknown

(3 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
MAN2B1 R337Qinsufficiently evaluated not reviewed, f=0.373unknown

(3 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
MAN2B1 P356Rinsufficiently evaluated pathogenicunknown

(8 web hits)

MAN2B1 N412Sinsufficiently evaluated not reviewedunknown
MAN2B1 N413Sinsufficiently evaluated none, f=0.082unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_G01_200_37
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01175-DNA_D03 from PGP sample 27486199
MAN2B1 A481Sinsufficiently evaluated none, f=0.074unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19701-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
MAN2B1 Q581Einsufficiently evaluated not reviewedunknown
MAN2B1 Q582Einsufficiently evaluated none, f=0.010unknown var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
MAN2B1 Q639Xinsufficiently evaluated pathogenicunknown

(3 web hits)

MAN2B1 P669Linsufficiently evaluated benign, f=0.001unknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
MAN2B1 G741Rinsufficiently evaluated none, f=0.020unknown var-GS19129-1100-36-ASM
MAN2B1 R750Winsufficiently evaluated pathogenic, f=0.000unknown

(12 web hits)

MAN2B1 R760Xinsufficiently evaluated pathogenicunknown

(3 web hits)

MAN2B1 G835Vinsufficiently evaluated not reviewedunknown CGI sample GS000006909
MAN2B1 L968Pinsufficiently evaluated not reviewed, f=0.016unknown var-GS19648-1100-36-ASM (hom)
MAN2B1 R998Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
Page: 1 2 3
Total results: 21

Gene search

"GENE" or "GENE A123C":

Log in