GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FANCI P55Luncertain benign, f=0.051unknown

Probably benign.

(16 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000005532
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
hu728FFF build 36 substitution variants
var-GS19669-1100-36-ASM
FANCI A86Vinsufficiently evaluated none, f=0.283unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FANCI C156Yinsufficiently evaluated not reviewed, f=0.000unknown

(1 web hit)

var-GS19020-1100-36-ASM
FANCI S238Ginsufficiently evaluated not reviewed, f=0.000unknown
FANCI Y283Xpathogenicrecessive

Although there are no known publications regarding this variant, this severe nonsense mutation would be predicted to cause Fanconi Anemia, complementation group I in a recessive manner.

FANCI V290Minsufficiently evaluated not reviewed, f=0.018unknown var-GS19700-1100-36-ASM
FANCI V372Iinsufficiently evaluated not reviewed, f=0.018unknown var-GS19700-1100-36-ASM
FANCI I404Tinsufficiently evaluated none, f=0.003unknown var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
FANCI S454Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
FANCI L507Pinsufficiently evaluated not reviewedunknown CGI sample GS000006909
FANCI S510Ginsufficiently evaluated not reviewedunknown
FANCI M525Vinsufficiently evaluated not reviewed, f=0.002unknown var-GS19670-1100-36-ASM
FANCI L605Finsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_E01_200_37
var-GS06985-1100-36-ASM
FANCI Q686Kinsufficiently evaluated not reviewed, f=0.005unknown var-GS19020-1100-36-ASM
FANCI I735Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
FANCI C742Sinsufficiently evaluated none, f=0.287unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FANCI N757Sinsufficiently evaluated not reviewed, f=0.008unknown
FANCI I771Vinsufficiently evaluated not reviewedunknown
FANCI I877Linsufficiently evaluated none, f=0.092unknown var-GS19025-1100-36-ASM
hu34D5B9 exome (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
FANCI R884Sinsufficiently evaluated noneunknown
FANCI R944Sinsufficiently evaluated none, f=0.003unknown var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
FANCI R1018Ginsufficiently evaluated not reviewedunknown
FANCI A1021Ginsufficiently evaluated not reviewedunknown
FANCI I1060Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
FANCI R1078Ginsufficiently evaluated not reviewedunknown
FANCI A1081Ginsufficiently evaluated not reviewedunknown
FANCI V1236Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS21767-1100-36-ASM
FANCI R1285Qinsufficiently evaluated pathogenicunknown

(20 web hits)

FANCI R1285Xpathogenicrecessive

Highly disruptive, reported to cause Fanconi Anemia complementation group I in a recessive manner (as do other disruptive variants in this gene). Patients with this severe disease develop various cancers and often do not reach adulthood.

Page: 1 2 3
Total results: 29

Gene search

"GENE" or "GENE A123C":

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