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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC45A2
(W202C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
SLC45A2
(G89fs)
Deletion
(frameshift variant)
Oculocutaneous albinism type 4
+2 more
GPathogenic/Likely pathogenic