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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OCA2
(V443I +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+5 more
GPathogenic/Likely pathogenic
OCA2
(Y342C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NPAP1, OCA2
+22 more
Copy number gain
Autism
+7 more
GPathogenic
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