GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
IKBKAP R70Hinsufficiently evaluated not reviewed, f=0.003unknown
IKBKAP S96Ginsufficiently evaluated not reviewed, f=0.003unknown var-GS21767-1100-36-ASM
IKBKAP M182Kinsufficiently evaluated none, f=0.073unknown var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
IKBKAP S251Ginsufficiently evaluated not reviewed, f=0.017unknown var-GS20502-1100-36-ASM
IKBKAP L308Pinsufficiently evaluated none, f=0.002unknown CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
IKBKAP E312Kinsufficiently evaluated none, f=0.022unknown

(1 web hit)

var-GS20502-1100-36-ASM
var-GS18517-1100-36-ASM
IKBKAP R525Qinsufficiently evaluated not reviewed, f=0.079unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS18504-1100-36-ASM (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
IKBKAP A574Vinsufficiently evaluated not reviewed, f=0.006unknown var-GS19701-1100-36-ASM
IKBKAP R696Pinsufficiently evaluated pathogenicrecessive

Familial Dysautonomia

(187 web hits)

IKBKAP G765Ainsufficiently evaluated not reviewedunknown
IKBKAP G765Einsufficiently evaluated none, f=0.257unknown

(6 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
var-GS07357-1100-36-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
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
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-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
IKBKAP I816Linsufficiently evaluated none, f=0.268unknown

(4 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
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-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
IKBKAP I830Minsufficiently evaluated none, f=0.035unknown var-GS19025-1100-36-ASM
var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS18956-1100-36-ASM
IKBKAP P914Linsufficiently evaluated pathogenicunknown

(13 web hits)

IKBKAP K952Iinsufficiently evaluated none, f=0.012unknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
IKBKAP G1013Sinsufficiently evaluated not reviewed, f=0.039unknown var-GS18501-1100-36-ASM
var-GS19701-1100-36-ASM
IKBKAP C1072Sinsufficiently evaluated not reviewed, f=0.215unknown

(1 web hit)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
IKBKAP P1158Linsufficiently evaluated not reviewed, f=0.214unknown

(8 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
IKBKAP E1177Ginsufficiently evaluated noneunknown

(1 web hit)

Page: 1 2
Total results: 19

Gene search

"GENE" or "GENE A123C":

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