ClinVar for MedGen (Select 1623594) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374728	NM_001085458.2(CTNND1):c.2638+2T>G	CTNND1, TMX2-CTNND1	Single nucleotide variant (splice donor variant)	Blepharocheilodontic syndrome 2	GPathogenic
Select item 3254974	NM_001085458.2(CTNND1):c.2550+1G>A	CTNND1, TMX2-CTNND1	Single nucleotide variant (splice donor variant)	Blepharocheilodontic syndrome 2	GPathogenic
Select item 3254542	NM_001085458.2(CTNND1):c.1889C>T (p.Ser630Phe)	CTNND1, TMX2-CTNND1 (S529F +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Blepharocheilodontic syndrome 2	GUncertain significance
Select item 2541896	NM_001085458.2(CTNND1):c.1837C>T (p.Pro613Ser)	CTNND1, TMX2-CTNND1 (P559S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2446376	NM_001085458.2(CTNND1):c.566dup (p.Pro190fs)	CTNND1, TMX2-CTNND1 (P136fs +2 more)	Duplication (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GPathogenic
Select item 2412720	NM_001085458.2(CTNND1):c.506C>G (p.Ser169Ter)	CTNND1, TMX2-CTNND1 (S115* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GLikely pathogenic
Select item 1343238	NM_001085458.2(CTNND1):c.1030C>T (p.Arg344Ter)	CTNND1, TMX2-CTNND1 (R243* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GLikely pathogenic
Select item 1339132	NM_001085458.2(CTNND1):c.2091G>A (p.Thr697=)	CTNND1, TMX2-CTNND1	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GUncertain significance
Select item 1333575	NM_001085458.2(CTNND1):c.2233G>T (p.Glu745Ter)	CTNND1, TMX2-CTNND1 (E638* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GLikely pathogenic
Select item 1322171	NM_001085458.2(CTNND1):c.1754del (p.Asn585fs)	CTNND1, TMX2-CTNND1 (N484fs +2 more)	Deletion (frameshift variant +1 more)	Blepharocheilodontic syndrome 2	GPathogenic
Select item 1236449	NM_001085458.2(CTNND1):c.483C>T (p.Asp161=)	CTNND1, TMX2-CTNND1	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2 +1 more	GBenign
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
Select item 931457	NM_001085458.2(CTNND1):c.1687C>T (p.Gln563Ter)	CTNND1, TMX2-CTNND1 (Q509* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GLikely pathogenic
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
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 438816	NM_001085458.2(CTNND1):c.1093C>T (p.Gln365Ter)	CTNND1, TMX2-CTNND1 (Q365* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GPathogenic
Select item 438815	NM_001085458.2(CTNND1):c.2098C>T (p.Arg700Ter)	CTNND1, TMX2-CTNND1 (R700* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GPathogenic