"Revvity Omics, Revvity"[submitter] AND "CFTR"[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 51031	NM_000492.4(CFTR):c.-226G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 2439932	NM_000492.4(CFTR):c.41A>G (p.Lys14Arg)	CFTR (K14R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 53944	NM_000492.4(CFTR):c.50dup (p.Ser18fs)	CFTR (S18fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic
Select item 1746703	NM_000492.4(CFTR):c.53+2T>C	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 35819	NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)	CFTR (S42F)	Single nucleotide variant (missense variant)	CFTR-related disorder +6 more	GUncertain significance
Select item 235283	NM_000492.4(CFTR):c.164+28A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 53425	NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	CFTR (P67L)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 48672	NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)	CFTR (R75*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7232	NM_000492.4(CFTR):c.262_263del (p.Leu88fs)	CFTR (L88fs)	Deletion (frameshift 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 53774	NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)	CFTR (A120T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 411116	NM_000492.4(CFTR):c.372C>T (p.Gly124=)	CFTR	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 53802	NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)	CFTR (I125T)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 1742296	NM_000492.4(CFTR):c.466A>G (p.Met156Val)	CFTR (M156V)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	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 48692	NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)	CFTR (G178R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 801157	NM_000492.4(CFTR):c.579+1G>A	CFTR	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 7190	NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	CFTR (L206W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 48700	NM_000492.4(CFTR):c.803del (p.Asn268fs)	CFTR (N268fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 54080	NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)	CFTR (R297W)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 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 48704	NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)	CFTR (F312del)	Microsatellite (inframe_deletion)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GPathogenic/Likely pathogenic
Select item 35894	NM_000492.4(CFTR):c.958T>G (p.Leu320Val)	CFTR (L320V)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +6 more	GConflicting classifications of pathogenicity
Select item 7139	NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	CFTR (R334W)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53167	NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)	CFTR (S341P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53170	NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer)	CFTR	Deletion (nonsense)	Cystic fibrosis	GPathogenic
Select item 35816	NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)	CFTR (R352W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 53222	NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter)	CFTR, CFTR-AS1 (Q414*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53229	NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	CFTR, CFTR-AS1 (D443Y)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 551988	NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)	CFTR, CFTR-AS1 (I444T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 53251	NM_000492.4(CFTR):c.1418del (p.Gly473fs)	CFTR-AS1, CFTR	Deletion (frameshift 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
Select item 7140	NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer)	CFTR, CFTR-AS1	Microsatellite (nonsense)	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 595238	NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu)	CFTR, LOC111674475 (K536E)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 7115	NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	CFTR, LOC111674475 (G542*)	Single nucleotide variant (nonsense)	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 7123	NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)	CFTR, LOC111674475 (A559T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7165	NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	CFTR (G576A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 35832	NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)	CFTR	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 53399	NM_000492.4(CFTR):c.1826A>T (p.His609Leu)	CFTR (H609L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 35833	NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	CFTR (G622D)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GConflicting classifications of pathogenicity
Select item 53422	NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)	CFTR (E664*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 35835	NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	CFTR (R668C)	Single nucleotide variant (missense variant)	CFTR-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 35836	NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer)	CFTR	Deletion (nonsense)	Cystic fibrosis	GPathogenic
Select item 35838	NM_000492.4(CFTR):c.2052dup (p.Gln685fs)	CFTR (Q685fs)	Duplication (frameshift 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 194336	NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)	CFTR (F693L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 7203	NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter)	CFTR (K710*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53487	NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)	CFTR (D806G)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GConflicting classifications of pathogenicity
Select item 35842	NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)	CFTR (I807M)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +6 more	GConflicting classifications of pathogenicity
Select item 53505	NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)	CFTR (D836Y)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +3 more	GConflicting classifications of pathogenicity
Select item 53529	NM_000492.4(CFTR):c.2620-26A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 38497	NM_000492.4(CFTR):c.2657+5G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 288458	NM_000492.4(CFTR):c.2659A>C (p.Thr887Pro)	CFTR (T887P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 53580	NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)	CFTR (M952I)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GConflicting classifications of pathogenicity
Select item 53592	NM_000492.4(CFTR):c.2909-15T>G	CFTR	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1322070	NM_000492.4(CFTR):c.2909-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 35854	NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)	CFTR (G970D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53604	NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)	CFTR (I980K)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 1167465	NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro)	CFTR (L986P)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 7224	NM_000492.4(CFTR):c.2988+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53613	NM_000492.4(CFTR):c.2989-1G>A	LOC111674472, CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 7229	NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	CFTR, LOC111674472 (L997F)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 35859	NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)	CFTR, LOC111674472 (P1013H)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GConflicting classifications of pathogenicity
Select item 38480	NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)	CFTR, LOC111674472	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 53668	NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)	CFTR, LOC111674472 (T1057A)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 53683	NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)	CFTR, LOC111674472 (A1067V)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 35866	NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	CFTR, LOC111674472 (R1070Q)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 500634	NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys)	CFTR, LOC111674472 (Y1092C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 53722	NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)	CFTR, LOC111674472 (S1118F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53736	NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)	CFTR (I1139V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 35867	NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	CFTR (D1152H)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 455775	NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)	CFTR (L1156F)	Single nucleotide variant (missense variant)	CFTR-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 555228	NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)	CFTR (R1162Q)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 7215	NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)	CFTR (I1234V)	Single nucleotide variant (missense 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 1735164	NM_000492.4(CFTR):c.3811G>A (p.Gly1271Ser)	CFTR (G1271S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 7129	NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	CFTR (W1282*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53823	NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)	CFTR (A1285V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +3 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 370490	NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs)	CFTR (I1315fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GPathogenic/Likely pathogenic
Select item 1737285	NM_000492.4(CFTR):c.4040G>A (p.Ser1347Asn)	CFTR (S1347N)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 53933	NM_000492.4(CFTR):c.4251del (p.Glu1418fs)	CFTR, LOC111674477 (E1418fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 411121	NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)	CFTR, LOC111674477 (R1453W)	Single nucleotide variant (missense variant)	CFTR-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 7223	NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)	CFTR, LOC111674477 (S1455*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GPathogenic/Likely pathogenic

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Items: 89