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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYR
(G53C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TYR
(V177L)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
GLikely pathogenic
TYR
Deletion
Tyrosinase-negative oculocutaneous albinism
GPathogenic
TYR
(W400R)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
GLikely pathogenic
TYR
(Y425*)
Single nucleotide variant
(nonsense)
Tyrosinase-negative oculocutaneous albinism
GLikely pathogenic
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