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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYR
(C55G)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+1 more
Gnot provided
TYR
(S184*)
Single nucleotide variant
(nonsense)
Tyrosinase-negative oculocutaneous albinism
+1 more
GLikely pathogenic
TYR
(I194fs)
Deletion
(frameshift variant)
not provided
GPathogenic
TYR
(C247R)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+1 more
GLikely pathogenic
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