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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC45A2
(G64V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC45A2
(V63L)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism type 4
GUncertain significance
SLC45A2
(A50E)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism type 4
GLikely pathogenic
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