GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CC2D2A R88Xinsufficiently evaluated not reviewedunknown
CC2D2A K167Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS18555-1100-36-ASM
CC2D2A E229Delinsufficiently evaluated not reviewed, f=0.039unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909
CGI sample GS000005532 (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
CC2D2A R275Hinsufficiently evaluated not reviewedunknown
CC2D2A R324Hinsufficiently evaluated not reviewedunknown
CC2D2A E327Ainsufficiently evaluated noneunknown
CC2D2A E376Ainsufficiently evaluated none, f=0.019unknown var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
CC2D2A V388Iinsufficiently evaluated not reviewed, f=0.001unknown var-GS18505-1100-36-ASM
CC2D2A K507Einsufficiently evaluated not reviewed, f=0.007unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CC2D2A G727Rinsufficiently evaluated not reviewedunknown

(1 web hit)

CC2D2A G776Rpathogenic, f=0.001recessive

Unreported, predicted to be damaging. Other recessive mutations in this gene cause Joubert Syndrome and Meckel Syndrome.

CGI sample GS00253-DNA_D01_200_37
CC2D2A R950Xinsufficiently evaluated pathogenicunknown

(3 web hits)

CC2D2A I961Tinsufficiently evaluated not reviewed, f=0.023unknown var-GS18942-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18956-1100-36-ASM
CC2D2A P1122Sinsufficiently evaluated pathogenicunknown

(3 web hits)

CC2D2A D1166Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
CC2D2A R1337Qinsufficiently evaluated not reviewedunknown
CC2D2A R1440Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS18555-1100-36-ASM
CC2D2A K1443Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
CC2D2A R1445Qinsufficiently evaluated not reviewedunknown
CC2D2A R1528Cinsufficiently evaluated pathogenicunknown

(3 web hits)

Page: 1 2
Total results: 20

Gene search

"GENE" or "GENE A123C":

Log in