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Variant
Impact
Inheritance pattern
Summary
Genomes
GLI2 W113X
insufficiently evaluated pathogenic
unknown
(2 web hits)
GLI2 R151G
insufficiently evaluated pathogenic
unknown
(2 web hits)
GLI2 P225H
insufficiently evaluated not reviewed
unknown
CGI sample GS000006909
GLI2 A268V
insufficiently evaluated not reviewed, f=0.002
unknown
var-GS19017-1100-36-ASM
GLI2 G305V
insufficiently evaluated not reviewed
unknown
GLI2 L697M
insufficiently evaluated not reviewed, f=0.008
unknown
var-GS18526-1100-36-ASM
GLI2 L717P
insufficiently evaluated not reviewed
unknown
(1 web hit)
GLI2 DR1003AW
insufficiently evaluated not reviewed
unknown
CGI sample GS00253-DNA_H01_200_37
GLI2 H1105P
insufficiently evaluated not reviewed
unknown
CGI sample GS000006909
GLI2 S1115F
insufficiently evaluated not reviewed
unknown
CGI sample GS01669-DNA_C05 from PGP sample 42408046
GLI2 A1156S
insufficiently evaluated not reviewed, f=0.626
unknown
(3 web hits)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
(hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
(hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
(hom)
hu34D5B9 exome
(hom)
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
(hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
(hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
(hom)
CGI sample GS000006909
(hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
(hom)
var-GS07357-1100-36-ASM
(hom)
var-GS19703-1100-36-ASM
(hom)
hu232307 build 36 substitution variants
(hom)
var-GS12004-1100-36-ASM
(hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
(hom)
CGI sample GS00253-DNA_G01_200_37
(hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-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
var-GS18555-1100-36-ASM
(hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
(hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
(hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
(hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
(hom)
CGI sample GS00253-DNA_F01_200_37
(hom)
var-GS20502-1100-36-ASM
(hom)
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
(hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
(hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
(hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
(hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
(hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
(hom)
var-GS20509-1100-36-ASM
(hom)
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
GLI2 D1306N
insufficiently evaluated not reviewed, f=0.678
unknown
(3 web hits)
CGI sample GS00253-DNA_E01_200_37
(hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
(hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
(hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
(hom)
hu34D5B9 exome
(hom)
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
(hom)
hu232307 build 36 substitution variants
(hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
(hom)
CGI sample GS00253-DNA_G01_200_37
(hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
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
(hom)
var-GS19239-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
(hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
(hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
(hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
(hom)
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
CGI sample GS00253-DNA_A02_200_37
(hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
(hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
(hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
(hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
GLI2 P1315S
insufficiently evaluated not reviewed
unknown
CGI sample GS01669-DNA_B03 from PGP sample 14427241
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Total results: 13
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