C0010674[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 53988	NM_000492.4(CFTR):c.53+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53554	NM_000492.4(CFTR):c.274-1G>C	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 618959	NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)	CFTR (S158N)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 455782	NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)	CFTR (R170C)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 53997	NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)	CFTR (L183I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 837464	NM_000492.4(CFTR):c.580-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 54086	NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)	CFTR (A309G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 7172	NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)	CFTR (A349V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 7198	NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)	CFTR (R352Q)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 2627425	NM_000492.4(CFTR):c.1140T>A (p.Tyr380Ter)	CFTR (Y380*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 2664230	NM_000492.4(CFTR):c.1209+2T>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GLikely pathogenic
Select item 193592	NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)	CFTR, CFTR-AS1 (N417K)	Single nucleotide variant (missense variant)	CFTR-related disorders +3 more	GConflicting classifications of pathogenicity
Select item 1705987	NM_000492.4(CFTR):c.1282C>G (p.Leu428Val)	CFTR, CFTR-AS1	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 35821	NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	CFTR, CFTR-AS1 (V456A)	Single nucleotide variant (missense variant)	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 2664163	NM_000492.4(CFTR):c.1579G>T (p.Glu527Ter)	CFTR, CFTR-AS1 (E527*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 1027585	NM_000492.4(CFTR):c.1585-2A>T	LOC111674475, CFTR	Single nucleotide variant (splice acceptor variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 555335	NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser)	CFTR, LOC111674475 (G544S)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
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 48681	NM_000492.4(CFTR):c.1680-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53352	NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)	CFTR (Y569D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 2584868	NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)	CFTR (S624fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 35838	NM_000492.4(CFTR):c.2052dup (p.Gln685fs)	CFTR (Q685fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53440	NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)	CFTR (R709*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7128	NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)	CFTR (Y913C)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +1 more	GPathogenic/Likely pathogenic
Select item 7162	NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)	CFTR, LOC111674472 (R1066C)	Single nucleotide variant (missense 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 2671788	NM_000492.4(CFTR):c.3661_3662del (p.Glu1221fs)	CFTR (E1221fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 53823	NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)	CFTR (A1285V)	Single nucleotide variant (missense variant)	CFTR-related condition +4 more	GConflicting classifications of pathogenicity
Select item 2627544	NM_000492.4(CFTR):c.4023del (p.Asp1341fs)	CFTR (D1341fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic

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Items: 30