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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR2F, SOX10
(R177fs)
Deletion
(frameshift variant +1 more)
Waardenburg syndrome type 2E
GPathogenic
POLR2F, SOX10
(K67fs)
Deletion
(frameshift variant +1 more)
Waardenburg syndrome type 2E
GPathogenic