GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ARMS2 R3Hinsufficiently evaluated none, f=0.096unknown

(17 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19648-1100-36-ASM
var-GS20502-1100-36-ASM
hu728FFF build 36 substitution variants
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
ARMS2 R38Xinsufficiently evaluated not reviewed, f=0.121unknown

(4 web hits)

CGI sample GS00253-DNA_E01_200_37
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000005532
var-GS12004-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
ARMS2 A69Sinsufficiently evaluated pathogenic, f=0.207unknown

associated wuth polypoidal choroidal vasculopathy (PCV) and age-related macular degeneration (AMD)

(269 web hits)

CGI sample GS00253-DNA_E01_200_37
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 GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
Total results: 3

Gene search

"GENE" or "GENE A123C":

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