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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYR
(K33E)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism type 1B
GLikely pathogenic
TYR
(G446S)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+5 more
GPathogenic