"Baylor Genetics"[submitter] AND "CTNND1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438817	NM_001085458.2(CTNND1):c.606del (p.Pro203fs)	CTNND1, TMX2-CTNND1 (P102fs +2 more)	Deletion (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GPathogenic
Select item 1031069	NM_001085458.2(CTNND1):c.1186C>G (p.Arg396Gly)	CTNND1, TMX2-CTNND1 (R295G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GUncertain significance