"MGZ Medical Genetics Center"[submitter] AND "CFTR"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 51029	NM_000492.4(CFTR):c.-812T>G	CFTR, LOC111674463	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1709997	NM_000492.4(CFTR):c.44T>A (p.Leu15His)	CFTR (L15H)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +1 more	GConflicting classifications of pathogenicity
Select item 7109	NM_000492.4(CFTR):c.350G>A (p.Arg117His)	CFTR (R117H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1415267	NM_000492.4(CFTR):c.403A>T (p.Thr135Ser)	CFTR (T135S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 38799	NM_000492.4(CFTR):c.489+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53971	NM_000492.4(CFTR):c.489+3A>G	CFTR	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GConflicting classifications of pathogenicity
Select item 1330412	NM_000492.4(CFTR):c.697C>T (p.Leu233Phe)	CFTR (L233F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 54082	NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)	CFTR (R297Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1709585	NM_000492.4(CFTR):c.1369G>A (p.Ala457Thr)	CFTR, CFTR-AS1 (A457T)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation	GUncertain significance
Select item 35822	NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)	CFTR, CFTR-AS1 (S466*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53248	NM_000492.4(CFTR):c.1405A>G (p.Met469Val)	CFTR, CFTR-AS1 (M469V)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +2 more	GPathogenic/Likely pathogenic
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 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	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)	LOC111674475, CFTR (G551D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1704501	NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser)	CFTR (T582S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +2 more	GUncertain significance
Select item 993512	NM_000492.4(CFTR):c.1934T>C (p.Met645Thr)	CFTR (M645T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +2 more	GUncertain significance
Select item 38493	NM_000492.4(CFTR):c.2052del (p.Lys684fs)	CFTR (K684fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53505	NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)	CFTR (D836Y)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 53516	NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs)	CFTR (I864fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53560	NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys)	CFTR (Y919C)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +5 more	GUncertain significance
Select item 53580	NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)	CFTR (M952I)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +5 more	GConflicting classifications of pathogenicity
Select item 219537	NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)	CFTR (L967S)	Single nucleotide variant (missense variant)	Cystic fibrosis +6 more	GConflicting classifications of pathogenicity
Select item 618953	NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe)	CFTR, LOC111674472 (L1040F)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 35865	NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	CFTR, LOC111674472 (F1052V)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 7210	NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)	CFTR, LOC111674472 (H1085R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 871193	NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala)	CFTR, LOC111674472 (T1086A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 35872	NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)	CFTR (S1235R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 7136	NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	CFTR (N1303K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53857	NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly)	CFTR (D1312G)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +3 more	GUncertain significance

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Items: 30