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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OCA2
(A763T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
OCA2
(A481T +1 more)
Single nucleotide variant
(missense variant)
OCA2-related condition
+3 more
GConflicting classifications of pathogenicity
OCA2
(V443I +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+5 more
GPathogenic/Likely pathogenic
OCA2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
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