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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR1D
(G21fs)
Duplication
(frameshift variant +1 more)
Treacher Collins syndrome 2
GLikely pathogenic
POLR1D
(V30fs)
Deletion
(frameshift variant +1 more)
Treacher Collins syndrome 2
GLikely pathogenic