ClinVar for PubMed (Select 2236053) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1300168	NM_000492.4(CFTR):c.[3846G>A;3848G>T]	CFTR (W1282* +1 more)	Single nucleotide variant (nonsense +1 more)	Cystic fibrosis	GPathogenic
Select item 831803	NC_000007.14:g.(?_117548631)_(117548835_?)del	CFTR	Deletion	Cystic fibrosis	GLikely pathogenic
Select item 634837	NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C]	CFTR, CFTR-AS1 +1 more	Deletion (inframe_deletion +1 more)	Cystic fibrosis	GPathogenic
Select item 375610	NP_000483.3:p.Ser549Arg	CFTR	Single nucleotide variant	Cystic fibrosis	GPathogenic
Select item 53359	NM_000492.4(CFTR):c.1720C>T (p.Pro574Ser)	CFTR (P574S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 43576	NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	CFTR-related condition +6 more	GConflicting classifications of pathogenicity
Select item 40190	NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	CFTR, LOC111674475 (S549R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 38733	NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)	LOC111674475, CFTR (S549R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 35868	NM_000492.4(CFTR):c.3528del (p.Lys1177fs)	CFTR (K1177fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7130	NM_000492.4(CFTR):c.1408G>A (p.Val470Met)	CFTR, CFTR-AS1 (V470M)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 7129	NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	CFTR (W1282*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7124	NM_000492.4(CFTR):c.3659del (p.Thr1220fs)	CFTR	Deletion (frameshift variant)	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 7119	NM_000492.4(CFTR):c.1721C>A (p.Pro574His)	CFTR (P574H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7117	NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile)	LOC111674475, CFTR (S549I)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7116	NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)	CFTR, LOC111674475 (S549N)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 7115	NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	CFTR, LOC111674475 (G542*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7114	NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn)	CFTR (Y563N)	Single nucleotide variant (missense variant)	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 7112	NM_000492.4(CFTR):c.1585-1G>A	CFTR, LOC111674475	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
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 7107	NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)	CFTR, CFTR-AS1 (Q493*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
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

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Items: 24