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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OCA2
Single nucleotide variant
(intron variant)
Tyrosinase-positive oculocutaneous albinism
GPathogenic
OCA2
(T458P +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GConflicting classifications of pathogenicity
OCA2
(E253fs)
Deletion
(frameshift variant)
Tyrosinase-positive oculocutaneous albinism
GPathogenic
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