"GeneReviews"[submitter] AND "CFTR"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66105	NM_000492.3(CFTR):c.54-5940_273+10250del	CFTR, LOC113664106 +1 more	Deletion	Cystic fibrosis	GPathogenic
Select item 35839	NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	CFTR (R75Q)	Single nucleotide variant (missense variant)	CFTR-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 7143	NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)	CFTR (G85E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7109	NM_000492.4(CFTR):c.350G>A (p.Arg117His)	CFTR (R117H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 38799	NM_000492.4(CFTR):c.489+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 38494	NM_000492.4(CFTR):c.579+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 7139	NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	CFTR (R334W)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7110	NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)	CFTR (R347P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 161188	NM_000492.3(CFTR):c.1210-12T[9]	CFTR, CFTR-AS1	Duplication (intron variant)	Cystic fibrosis +3 more	GBenign/Likely benign
Select item 242535	NM_000492.3(CFTR):c.1210-12T[5]	CFTR, CFTR-AS1	Deletion (intron variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +6 more	GConflicting classifications of pathogenicity
Select item 38737	NM_000492.4(CFTR):c.1210-12=	CFTR-AS1, CFTR	Microsatellite (intron variant)	Cystic fibrosis	GBenign
Select item 7111	NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)	CFTR, CFTR-AS1 (A455E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 132146	NM_000492.4(CFTR):c.1408= (p.Val470=)	CFTR, CFTR-AS1	Single nucleotide variant (no sequence alteration)	not specified	GBenign
Select item 7106	NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)	CFTR, CFTR-AS1 (I507del)	Microsatellite (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 43576	NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 7112	NM_000492.4(CFTR):c.1585-1G>A	CFTR, LOC111674475	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 7115	NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	CFTR, LOC111674475 (G542*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7120	NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)	CFTR, LOC111674475 (G551D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7122	NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	CFTR, LOC111674475 (R553*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7113	NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)	CFTR, LOC111674475 (R560T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7168	NM_000492.4(CFTR):c.1766+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 38493	NM_000492.4(CFTR):c.2052del (p.Lys684fs)	CFTR (K684fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 38497	NM_000492.4(CFTR):c.2657+5G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 7224	NM_000492.4(CFTR):c.2988+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 7137	NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)	CFTR (R1162*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 35868	NM_000492.4(CFTR):c.3528del (p.Lys1177fs)	CFTR (K1177fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7166	NM_000492.3(CFTR):c.3718-2477C>T	CFTR, LOC113633877	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 7129	NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	CFTR (W1282*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 93153	NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)	CFTR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 132148	NM_000492.3(CFTR):c.3963-78_4242+577del	CFTR, LOC111674468 +1 more	Deletion	Hereditary pancreatitis	GPathogenic
Select item 7136	NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	CFTR (N1303K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1098573	NM_000492.3:c.1210-12T[(5_9)]	CFTR	Microsatellite	Cystic fibrosis	Gnot provided

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Items: 33