"CFTR-France"[submitter] AND "LOC111674475"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 35828	NM_000492.4(CFTR):c.1585-8G>A	LOC111674475, CFTR	Single nucleotide variant (intron 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 818138	NM_000492.4(CFTR):c.1616_1617dup (p.Val540Ter)	CFTR, LOC111674475 (V540*)	Microsatellite (nonsense)	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 53310	NM_000492.4(CFTR):c.1642_1643del (p.Leu548fs)	CFTR, LOC111674475 (L548fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 38733	NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)	CFTR, LOC111674475 (S549R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
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 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 53319	NM_000492.4(CFTR):c.1650del (p.Gly551fs)	CFTR, LOC111674475 (G551fs)	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 7122	NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	CFTR, LOC111674475 (R553*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7196	NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)	CFTR, LOC111674475 (I556V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 53326	NM_000492.4(CFTR):c.1670del (p.Ser557fs)	CFTR, LOC111674475 (S557fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 35829	NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser)	CFTR, LOC111674475 (L558S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53327	NM_000492.4(CFTR):c.1674del (p.Ala559fs)	CFTR, LOC111674475 (A559fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7123	NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)	CFTR, LOC111674475 (A559T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7156	NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)	LOC111674475, CFTR (R560K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53335	NM_000492.4(CFTR):c.1679+1G>C	CFTR, LOC111674475	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic