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Items: 2

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:70008537
GRCh38:
Chr3:69959386
MITFWaardenburg syndrome type 2APathogenic
(May 1, 1997)
no assertion criteria provided
2.
GRCh37:
Chr11:89017961
GRCh38:
Chr11:89284793
TYRTyrosinase-negative oculocutaneous albinism, Oculocutaneous 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,
not specified, Waardenburg syndrome 2 and ocular albinism, digenic, not provided,
Oculocutaneous albinism
Conflicting interpretations of pathogenicity, association, other, risk factor
(Jun 26, 2017)
criteria provided, conflicting interpretations
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