GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
RAX D44Einsufficiently evaluated none, f=0.229unknown

(5 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18501-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM
RAX T50Pinsufficiently evaluated not reviewed, f=0.009unknown var-GS18508-1100-36-ASM
RAX Q147Xinsufficiently evaluated pathogenicunknown

(23 web hits)

RAX G171Dinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
RAX A189Tinsufficiently evaluated not reviewedunknown

Asymptomatic heterozygote. Mother is heterozygote with unilateral anophthalmia/microphthalmia. Brother heterozygote with severe myopia. Sister likely asymptomatic heterozygote. Two offspring of sister have anophthalmia/microphthalmia.

Family also has novel variant in BCORL1 V1334G

RAX R192Einsufficiently evaluated pathogenicunknown
RAX L204Minsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
RAX Y303Xinsufficiently evaluated pathogenicunknown

(1 web hit)

RAX2 S4Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
RAX2 P52Linsufficiently evaluated none, f=0.013unknown

(6 web hits)

CGI sample GS00253-DNA_E01_200_37
RAX2 R84Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS19834-1100-36-ASM
RAX2 A144Sinsufficiently evaluated not reviewedunknown
RAXL1 R87Qinsufficiently evaluated pathogenicunknown
RAXL1 G137Rinsufficiently evaluated pathogenicunknown
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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