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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYR
(P81L)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism
+7 more
GPathogenic
TYR
(S192Y)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism
+3 more
GConflicting classifications of pathogenicity
TYR
(A355V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TYR
(R402Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity; other
TYR
(P406L)
Single nucleotide variant
(missense variant)
TYR-related condition
+8 more
GPathogenic/Likely pathogenic
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