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Results: 2

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
TYROculocutaneous albinism type 1A, Skin/hair/eye pigmentation, variation in, 3, not provided
GO-ESP:0.27477(A)
GMAF:0.12340(A)
conflicting data from submitters
(May 16, 2013)
classified by multiple submitters1189178528
2.
TYROculocutaneous albinism type 1B, Skin/hair/eye pigmentation, variation in, 3, Oculocutaneous albinism type 1, temperature sensitive,
Cutaneous malignant melanoma 8, Skin/hair/eye pigmentation 3, blue/green eyes, WAARDENBURG SYNDROME 2 AND OCULAR ALBINISM, DIGENIC,
not provided
GO-ESP:0.20315(A)
GMAF:0.08130(A)
conflicting data from submitters
(Aug 13, 2013)
classified by multiple submitters1189284793