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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTNND1, TMX2-CTNND1
(N484fs +2 more)
Deletion
(frameshift variant +1 more)
Blepharocheilodontic syndrome 2
GPathogenic
CTNND1, TMX2-CTNND1
(P559S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance