GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
OPA1 Q15Kinsufficiently evaluated not reviewed, f=0.003unknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18940-1100-36-ASM
OPA1 V109Ginsufficiently evaluated noneunknown
OPA1 S158Ninsufficiently evaluated not reviewed, f=0.496unknown

(9 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
OPA1 A210Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
OPA1 R290Qinsufficiently evaluated pathogenicunknown

(27 web hits)

OPA1 G300Einsufficiently evaluated pathogenicunknown

(25 web hits)

OPA1 R366Xinsufficiently evaluated pathogenicunknown

(16 web hits)

OPA1 R445Hinsufficiently evaluated pathogenicunknown

(205 web hits)

OPA1 Y582Cinsufficiently evaluated pathogenicunknown

(11 web hits)

OPA1 T640Iinsufficiently evaluated not reviewedunknown
OPA1 T658Iinsufficiently evaluated not reviewedunknown
OPA1 T676Iinsufficiently evaluated not reviewedunknown
OPA1 T677Iinsufficiently evaluated not reviewedunknown
OPA1 T694Iinsufficiently evaluated not reviewedunknown
OPA1 T695Iinsufficiently evaluated not reviewedunknown
OPA1 D696Ginsufficiently evaluated not reviewedunknown
OPA1 N700Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS19701-1100-36-ASM
OPA1 T713Iinsufficiently evaluated not reviewedunknown

(4 web hits)

OPA1 D714Ginsufficiently evaluated not reviewedunknown
OPA1 T731Iinsufficiently evaluated not reviewedunknown

(1 web hit)

OPA1 D732Ginsufficiently evaluated not reviewedunknown
OPA1 D733Ginsufficiently evaluated not reviewedunknown
OPA1 D750Ginsufficiently evaluated not reviewedunknown
OPA1 D751Ginsufficiently evaluated not reviewedunknown
OPA1 D769Ginsufficiently evaluated not reviewedunknown
OPA1 D787Ginsufficiently evaluated not reviewedunknown
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Total results: 26

Gene search

"GENE" or "GENE A123C":

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