GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TYR M1Vlikely pathogenic, f=0.000recessive

Reported to cause oculocutaneous albinism in a recessive manner. This effect is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004011/), and comes from Fukai et al 1995 (PMID: 7704033) who found this variant carried heterozygously by one of 12 patients studied.

(424 web hits)

TYR P21Sinsufficiently evaluated pathogenicunknown

(80 web hits)

TYR D42Ginsufficiently evaluated pathogenicunknown

(5 web hits)

TYR G47Dinsufficiently evaluated pathogenicunknown

(31 web hits)

TYR C55Yinsufficiently evaluated pathogenicunknown

(19 web hits)

TYR R59Qinsufficiently evaluated pathogenicunknown

(6 web hits)

TYR R77Qinsufficiently evaluated pathogenic, f=0.000unknown

(34 web hits)

TYR P81Linsufficiently evaluated pathogenic, f=0.000unknown

(22 web hits)

TYR T88Pinsufficiently evaluated not reviewedunknown

(14 web hits)

TYR C89Rinsufficiently evaluated pathogenicunknown

(20 web hits)

TYR M96Ninsufficiently evaluated pathogenicunknown

(3 web hits)

TYR W178Xinsufficiently evaluated pathogenicunknown

(2 web hits)

TYR G191Dinsufficiently evaluated pathogenicunknown

(3 web hits)

TYR S192Yuncertain benign, f=0.271unknown

This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).

(29 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
TYR A206Tinsufficiently evaluated pathogenicunknown

(7 web hits)

TYR L216Minsufficiently evaluated pathogenicunknown

(8 web hits)

TYR R217Winsufficiently evaluated pathogenic, f=0.000unknown

(13 web hits)

TYR W236Xinsufficiently evaluated pathogenicunknown

(8 web hits)

TYR V275Finsufficiently evaluated pathogenic, f=0.000unknown

(14 web hits)

TYR R299Hinsufficiently evaluated pathogenicunknown

(15 web hits)

TYR T355Kinsufficiently evaluated pathogenicunknown

(2 web hits)

TYR D365Ninsufficiently evaluated pathogenicunknown

(11 web hits)

TYR N371Tinsufficiently evaluated pathogenicunknown

(5 web hits)

TYR T373Klikely pathogenicrecessive

Numerous reports confirm this is a well-established cause of oculocutaneous albinism type 1 (recessive). Oetting, et al. 1991 reported this variant as compound heterozygous in one of three patients. Gershoni-Baruch, et al. 1994 found it compound heterozygous in 2 of 38 cases. Later studies further confirm variant, e.g. Hutton et al. 2008 (4 compound het carriers in 36 patients, PMID 18326704) and the same authors later found it heterozygous in 23 out of 121 patients (PMID 18463683).

TYR N382Kinsufficiently evaluated pathogenicunknown

(2 web hits)

TYR R402Quncertain benign, f=0.205other

This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.

(151 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19670-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
TYR R403Sinsufficiently evaluated pathogenic, f=0.000unknown

(8 web hits)

TYR P406Linsufficiently evaluated pathogenic, f=0.004unknown

Reported to cause albinism in a recessive manner

(15 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu34D5B9 exome
CGI sample GS01175-DNA_D01 from PGP sample 31286272
TYR G419Rinsufficiently evaluated pathogenicunknown

(6 web hits)

TYR R422Qinsufficiently evaluated pathogenicunknown

(15 web hits)

TYR G446Sinsufficiently evaluated pathogenicunknown

(7 web hits)

TYR D448Ninsufficiently evaluated pathogenic, f=0.000unknown

(4 web hits)

TYRO3 V83Ainsufficiently evaluated not reviewedunknown

(1 web hit)

TYRO3 I346Ninsufficiently evaluated none, f=0.234unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18501-1100-36-ASM
CGI sample GS000006909
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM
TYRO3 V669Linsufficiently evaluated none, f=0.073unknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
TYRO3 A815Vinsufficiently evaluated not reviewed, f=0.005unknown var-GS18505-1100-36-ASM
TYROBP M1Tinsufficiently evaluated pathogenicunknown
TYROBP R23Hinsufficiently evaluated none, f=0.000unknown
TYROBP V42Minsufficiently evaluated not reviewed, f=0.000unknown
TYROBP V55Linsufficiently evaluated none, f=0.009unknown var-GS19129-1100-36-ASM
var-GS18947-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
TYRP1 S166Xinsufficiently evaluated pathogenic, f=0.001unknown

(26 web hits)

TYRP1 T262Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
TYRP1 R326Hinsufficiently evaluated not reviewed, f=0.004unknown var-GS19700-1100-36-ASM
TYRP1 D343Ginsufficiently evaluated not reviewedunknown
TYRP1 R373Xinsufficiently evaluated pathogenicunknown

(6 web hits)

TYRP1 R505Cinsufficiently evaluated none, f=0.008unknown

(2 web hits)

var-GS18555-1100-36-ASM
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Total results: 46

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