GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
OCA2 G27Rinsufficiently evaluated pathogenic, f=0.006recessive

This variant was seen as a compound heterozygote (with S736L) in an Ashkenazi Jewish individual with oculocutaneous albinism type II. The residue is not conserved in mouse.

(8 web hits)

OCA2 K155Linsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
OCA2 P198Linsufficiently evaluated not reviewed, f=0.000unknown var-GS18502-1100-36-ASM
OCA2 P241Rinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18956-1100-36-ASM
OCA2 R266Winsufficiently evaluated not reviewed, f=0.010unknown var-GS18501-1100-36-ASM
OCA2 R305Wuncertain benign, f=0.082unknown

This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).

(28 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01669-DNA_D02 from PGP sample 27316983
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
OCA2 A334Vinsufficiently evaluated pathogenicunknown

(7 web hits)

OCA2 I370Tinsufficiently evaluated pathogenic, f=0.004recessive

(4 web hits)

OCA2 M394Iinsufficiently evaluated pathogenicunknown

(2 web hits)

OCA2 R419Quncertain benign, f=0.057unknown

This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).

(70 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS07357-1100-36-ASM
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
OCA2 V443Iinsufficiently evaluated pathogenic, f=0.005unknown

(24 web hits)

OCA2 A481Tuncertain pathogenic, f=0.001recessive

This variant is associated with lower melanin production and may result in less pigmentation in skin or eyes. The variant is suggested to play a role in oculocutaneous albinism when combined with more severe variants, but these findings lack statistical significance.

(47 web hits)

var-GS18942-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
OCA2 N489Dinsufficiently evaluated pathogenic, f=0.001unknown

(8 web hits)

OCA2 R573Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS18502-1100-36-ASM
OCA2 H615Runcertain benign, f=0.001other

Associated with lighter skin pigmentation in East Asian populations.

(23 web hits)

var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
OCA2 W679Cinsufficiently evaluated pathogenicunknown

(8 web hits)

OCA2 I722Tinsufficiently evaluated not reviewed, f=0.020unknown

(2 web hits)

OCA2 P743Linsufficiently evaluated pathogenicunknown

(8 web hits)

OCA2 C777Ginsufficiently evaluated not reviewedunknown var-GS20502-1100-36-ASM
OCA2 V834Minsufficiently evaluated not reviewed, f=0.005unknown var-GS19703-1100-36-ASM
var-GS19026-1100-36-ASM
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Total results: 20

Gene search

"GENE" or "GENE A123C":

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