GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TGIF1 S18Linsufficiently evaluated not reviewed, f=0.024unknown CGI sample GS00253-DNA_D01_200_37
TGIF1 A69Vinsufficiently evaluated not reviewedunknown
TGIF1 P83Shiftuncertain pathogenic, f=0.139other

Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.

CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
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_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (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 (hom)
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
TGIF1 P143Linsufficiently evaluated noneunknown
TGIF1 P143Rinsufficiently evaluated not reviewedunknown
TGIF1 P143Sinsufficiently evaluated noneunknown
TGIF1 P163Linsufficiently evaluated noneunknown
TGIF1 P163Rinsufficiently evaluated not reviewedunknown
TGIF1 P163Sinsufficiently evaluated noneunknown
TGIF1 P177Linsufficiently evaluated noneunknown
TGIF1 P177Rinsufficiently evaluated not reviewedunknown
TGIF1 P177Sinsufficiently evaluated noneunknown
TGIF1 P292Linsufficiently evaluated none, f=0.043unknown

(6 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS10851-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_F01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
CGI sample GS01175-DNA_D03 from PGP sample 27486199
TGIF1 P292Rinsufficiently evaluated not reviewedunknown
TGIF1 P292Sinsufficiently evaluated none, f=0.060unknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
Page: 1 2
Total results: 15

Gene search

"GENE" or "GENE A123C":

Log in