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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OCA2
(Y778fs +1 more)
Duplication
(frameshift variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GConflicting classifications of pathogenicity
OCA2
(A787V +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+2 more
GPathogenic/Likely pathogenic
OCA2
(G780D +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
OCA2
(W679C +1 more)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism
+3 more
GConflicting classifications of pathogenicity
OCA2
(A481T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
OCA2
(V443I +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
OCA2
Single nucleotide variant
(splice donor variant)
OCA2-related disorder
+3 more
GPathogenic
OCA2
Deletion
(inframe_deletion)
OCA2-related disorder
+3 more
GConflicting classifications of pathogenicity
OCA2
(R53fs)
Deletion
(frameshift variant)
Tyrosinase-positive oculocutaneous albinism
+2 more
GPathogenic/Likely pathogenic
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