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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OCA2
(P198L)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+2 more
GConflicting classifications of pathogenicity
TYR
(R278*)
Single nucleotide variant
(nonsense)
not provided
+6 more
GPathogenic
TYR
Single nucleotide variant
(intron variant)
Ocular albinism
+10 more
GPathogenic/Likely pathogenic
TYR
(R299H)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+5 more
GPathogenic
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