"University of Washington Center for Mendelian Genomics, University of - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 834019	NM_001085458.2(CTNND1):c.55C>G (p.Gln19Glu)	CTNND1, TMX2-CTNND1 (Q19E)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 834013	NM_001085458.2(CTNND1):c.937_938del (p.Asp313fs)	CTNND1, TMX2-CTNND1 (D313fs +2 more)	Deletion (non-coding transcript variant +1 more)	Cleft lip with or without cleft palate	GPathogenic
Select item 834012	NM_001085458.2(CTNND1):c.1007G>A (p.Trp336Ter)	CTNND1, TMX2-CTNND1 (W235* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cleft lip with or without cleft palate	GPathogenic
Select item 834015	NM_001085458.2(CTNND1):c.1496A>G (p.Asp499Gly)	CTNND1, TMX2-CTNND1 (D398G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cleft lip with or without cleft palate	GLikely pathogenic
Select item 834016	NM_001085458.2(CTNND1):c.1672C>T (p.Leu558Phe)	CTNND1, TMX2-CTNND1 (L558F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 834021	NM_001085458.2(CTNND1):c.1687C>G (p.Gln563Glu)	CTNND1, TMX2-CTNND1 (Q462E +2 more)	Single nucleotide variant (missense variant +1 more)	Cleft lip with or without cleft palate	GUncertain significance
Select item 834020	NM_001085458.2(CTNND1):c.1721A>G (p.Lys574Arg)	CTNND1, TMX2-CTNND1 (K520R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cleft lip with or without cleft palate	GUncertain significance
Select item 834017	NM_001085458.2(CTNND1):c.1750C>T (p.Arg584Trp)	CTNND1, TMX2-CTNND1 (R530W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cleft lip with or without cleft palate	GLikely pathogenic
Select item 834018	NM_001085458.2(CTNND1):c.2088G>T (p.Trp696Cys)	CTNND1, TMX2-CTNND1 (W589C +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cleft lip with or without cleft palate	GLikely pathogenic
Select item 834014	NM_001085458.2(CTNND1):c.2435+1G>T	CTNND1, TMX2-CTNND1	Single nucleotide variant (splice donor variant)	Cleft lip with or without cleft palate	GPathogenic
Select item 800854	NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter)	CTNND1, TMX2-CTNND1 (R804* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GLikely pathogenic