GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FANCD2 Q65Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS19704-1100-36-ASM
FANCD2 I172Minsufficiently evaluated not reviewed, f=0.024unknown var-GS19703-1100-36-ASM
FANCD2 R302Winsufficiently evaluated pathogenicunknown

(16 web hits)

FANCD2 Q320Xinsufficiently evaluated pathogenicunknown

(5 web hits)

FANCD2 N405Sinsufficiently evaluated none, f=0.231unknown

(1 web hit)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu34D5B9 exome
FANCD2 S455Ginsufficiently evaluated not reviewedunknown
FANCD2 L456Rinsufficiently evaluated pathogenic, f=0.035recessive

This variant was found in two African American siblings as part of a compound heterozgyote (with R253X) with Fanconi Anemia D2, but a lack of information on the variant allele frequency in controls means significance cannot be assessed.

(13 web hits)

var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
FANCD2 Q623Pinsufficiently evaluated none, f=0.028unknown var-GS18502-1100-36-ASM
FANCD2 L686Pinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
FANCD2 P714Linsufficiently evaluated none, f=0.142unknown

(7 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
var-GS12004-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-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 GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS19240-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FANCD2 Q802Hinsufficiently evaluated none, f=0.007unknown
FANCD2 G901Vinsufficiently evaluated not reviewed, f=0.026unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19834-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
FANCD2 P983Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
FANCD2 R1236Hinsufficiently evaluated pathogenicunknown

(14 web hits)

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Total results: 14

Gene search

"GENE" or "GENE A123C":

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