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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYR
(P81L)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+7 more
GPathogenic
TYR
(G346*)
Single nucleotide variant
(nonsense)
Oculocutaneous albinism type 1
+3 more
GPathogenic/Likely pathogenic
TYR
(R402Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity; other
TYR
(G419R)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+4 more
GPathogenic
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