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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MITF
(L112I +6 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+4 more
GUncertain significance
SLC45A2
(Y394*)
Single nucleotide variant
(nonsense)
Oculocutaneous albinism type 4
GLikely pathogenic