GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GLI3 T183Ainsufficiently evaluated not reviewed, f=0.666unknown

(6 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
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 (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
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
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
GLI3 L213Pinsufficiently evaluated not reviewedunknown

(1 web hit)

GLI3 R290Xinsufficiently evaluated pathogenicunknown

(5 web hits)

GLI3 T308Ainsufficiently evaluated not reviewedunknown

(4 web hits)

GLI3 S327Guncertain benign, f=0.008undefined

Tentatively presumed benign because seen in an unaffected PGP participant. However, Polyphen 2 predicts a damaging effect and other variants in this gene are implicated in causing polydactyly and other related, rarer syndromes in a dominant manner.

GLI3 Q496Xinsufficiently evaluated pathogenicunknown

(2 web hits)

GLI3 E543Xinsufficiently evaluated pathogenicunknown

(21 web hits)

GLI3 R625Winsufficiently evaluated pathogenicunknown

(16 web hits)

GLI3 R643Xinsufficiently evaluated pathogenicunknown

(14 web hits)

GLI3 P707Sinsufficiently evaluated pathogenic, f=0.000unknown

(14 web hits)

GLI3 G727Runcertain pathogenic, f=0.005dominant

Reported to cause postaxial polydactyly in a dominant manner. However it was only observed in one family, another linked variant in the region may have been causal. Data in the exome variant server shows 1 in 100 carry this variant, contracting the polydactyly effect — if that hypothesis were true, this variant is common enough that it would account for a large fraction of cases (i.e. many other publications would exist confirming the hypothesis).

Other variants in this gene cause Pallister-Hall syndrome, which causes many traits including polydactyly and hypothalamic hamartoma (a congenital brain malformation that can cause seizures).

(14 web hits)

GLI3 R792Xinsufficiently evaluated pathogenicunknown

(12 web hits)

GLI3 V891Ainsufficiently evaluated not reviewedunknown CGI sample GS000006909
GLI3 P998Linsufficiently evaluated not reviewed, f=0.252unknown

(12 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
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
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
GLI3 S1028Iinsufficiently evaluated none, f=0.015unknown

(2 web hits)

GLI3 E1147Xinsufficiently evaluated pathogenicunknown

(14 web hits)

GLI3 H1200Dinsufficiently evaluated not reviewed, f=0.000unknown var-GS18558-1100-36-ASM
GLI3 L1216Finsufficiently evaluated not reviewedunknown
GLI3 G1336Einsufficiently evaluated not reviewed, f=0.040unknown CGI sample GS000005532
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS06985-1100-36-ASM
GLI3 R1537Cinsufficiently evaluated not reviewed, f=0.041unknown CGI sample GS000005532
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS06985-1100-36-ASM
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Total results: 20

Gene search

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