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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MITF
(G182E +9 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 2A
+1 more
GLikely pathogenic
MITF
(C262fs +9 more)
Duplication
(frameshift variant)
Waardenburg syndrome type 2A
GPathogenic