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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MITF
(S34fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
MITF
(E318K +9 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic/Likely pathogenic; risk factor