"CFTR-France"[submitter] AND "LOC111674477"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705870	NC_000007.14:g.117660798_117670251delinsTAACT	CFTR, LOC111674468 +1 more	Indel	Cystic fibrosis	GPathogenic
Select item 66104	NM_000492.4(CFTR):c.3964-78_4242+577del	CFTR, LOC111674477	Deletion (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 237857	NM_000492.4(CFTR):c.4243-7del	CFTR, LOC111674477	Deletion (intron variant)	CFTR-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 53933	NM_000492.4(CFTR):c.4251del (p.Glu1418fs)	CFTR, LOC111674477 (E1418fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 93156	NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 53937	NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)	CFTR, LOC111674477 (S1426P)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 370324	NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)	CFTR, LOC111674477 (S1435fs)	Microsatellite (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 818150	NM_000492.4(CFTR):c.4303dup (p.Ser1435fs)	CFTR, LOC111674477 (S1435fs)	Duplication (frameshift variant)	CFTR-related disorder	GPathogenic
Select item 93157	NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	CFTR-related disorder +4 more	GBenign/Likely benign
Select item 53947	NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	CFTR, LOC111674477 (Q1476*)	Single nucleotide variant (nonsense)	Hereditary pancreatitis +6 more	GPathogenic/Likely pathogenic