"Counsyl"[submitter] AND "CFTR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557329	NM_000492.3(CFTR):c.-893_-891del	LOC111674463, CFTR	Deletion	Cystic fibrosis	GUncertain significance
Select item 558519	NM_000492.3(CFTR):c.-837T>C	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 550903	NM_000492.3(CFTR):c.-674T>C	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 557109	NM_000492.3(CFTR):c.-600dup	LOC111674463, CFTR	Duplication	Cystic fibrosis	GUncertain significance
Select item 553817	NM_000492.4(CFTR):c.-602A>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 51030	NC_000007.14:g.117479600C>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 189027	NC_000007.14:g.117479634A>G	LOC111674463, CFTR	Single nucleotide variant	Hereditary pancreatitis +2 more	GConflicting classifications of pathogenicity
Select item 439085	NC_000007.14:g.117479647A>G	CFTR, LOC111674463	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 439059	NC_000007.14:g.117479930G>A	CFTR, LOC111674463	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 552672	NM_000492.4(CFTR):c.-34C>T	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 53158	NM_000492.4(CFTR):c.-9_14del (p.Met1fs)	CFTR, LOC111674463 (M1fs)	Deletion (frameshift variant +1 more)	Cystic fibrosis	GPathogenic
Select item 556329	NM_000492.4(CFTR):c.-8GA[4]	CFTR, LOC111674463	Microsatellite (5 prime UTR variant)	Cystic fibrosis	GUncertain significance
Select item 53423	NM_000492.4(CFTR):c.1A>G (p.Met1Val)	CFTR (M1V)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	GPathogenic
Select item 53622	NM_000492.4(CFTR):c.2T>C (p.Met1Thr)	CFTR (M1T)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis +4 more	GPathogenic/Likely pathogenic
Select item 53211	NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)	CFTR (S4*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 35824	NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	CFTR (P5L)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GPathogenic/Likely pathogenic
Select item 558162	NM_000492.4(CFTR):c.16C>G (p.Leu6Val)	CFTR (L6V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 53845	NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)	CFTR (S13F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53988	NM_000492.4(CFTR):c.53+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53989	NM_000492.4(CFTR):c.53+4A>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 53995	NM_000492.4(CFTR):c.54-13C>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 370097	NM_000492.4(CFTR):c.56G>A (p.Trp19Ter)	CFTR (W19*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 54061	NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)	CFTR (G27*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54062	NM_000492.4(CFTR):c.80G>A (p.Gly27Glu)	CFTR (G27E)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 554829	NM_000492.4(CFTR):c.92G>A (p.Arg31His)	CFTR (R31H)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 54087	NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)	CFTR (R31L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 502597	NM_000492.4(CFTR):c.94C>A (p.Leu32Met)	CFTR (L32M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 35817	NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter)	CFTR (Y38*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 53204	NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)	CFTR (Q39*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
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 53238	NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)	CFTR (A46D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53269	NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)	CFTR (S50Y)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 553656	NM_000492.4(CFTR):c.164+2dup	CFTR	Duplication (splice donor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 53305	NM_000492.4(CFTR):c.164+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53304	NM_000492.4(CFTR):c.164+1G>C	CFTR	Single nucleotide variant (splice donor variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 53317	NM_000492.4(CFTR):c.165-3C>T	CFTR, LOC113664106	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 53314	NM_000492.4(CFTR):c.165-1G>A	CFTR, LOC113664106	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53325	NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)	CFTR, LOC113664106 (E56K)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 549932	NM_000492.4(CFTR):c.167A>G (p.Glu56Gly)	LOC113664106, CFTR (E56G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 7179	NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)	CFTR, LOC113664106 (W57*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53373	NM_000492.4(CFTR):c.174_177del (p.Asp58fs)	CFTR, LOC113664106 (D58fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
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 53428	NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)	CFTR (K68E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 53431	NM_000492.4(CFTR):c.204A>T (p.Lys68Asn)	CFTR (K68N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 196277	NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)	CFTR (R74W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53456	NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)	CFTR (R74Q)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 53475	NM_000492.4(CFTR):c.233dup (p.Trp79fs)	CFTR (W79fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 557120	NM_000492.4(CFTR):c.244A>G (p.Met82Val)	CFTR (M82V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 53534	NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)	CFTR (L88*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 556193	NM_000492.4(CFTR):c.274-3T>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 53556	NM_000492.4(CFTR):c.274-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53554	NM_000492.4(CFTR):c.274-1G>C	CFTR	Single nucleotide variant (splice acceptor variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 7181	NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)	CFTR (E92K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 554723	NM_000492.4(CFTR):c.290T>C (p.Val97Ala)	CFTR (V97A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 53600	NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)	CFTR (Q98*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53606	NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	CFTR (Q98R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 554293	NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)	CFTR (L102R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53692	NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)	CFTR (S108F)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 53695	NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)	CFTR (Y109N)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 53702	NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)	CFTR (Y109*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 553436	NM_000492.4(CFTR):c.328G>A (p.Asp110Asn)	CFTR (D110N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 7108	NM_000492.4(CFTR):c.328G>C (p.Asp110His)	CFTR (D110H)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 53714	NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)	CFTR (D110E)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53718	NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)	CFTR (P111A)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 53762	NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)	CFTR (R117G)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GPathogenic/Likely pathogenic
Select item 48688	NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	CFTR (R117C)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 53765	NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)	CFTR (R117L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 38833	NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter)	CFTR (Y122*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 551950	NM_000492.4(CFTR):c.405_406dup (p.Leu136fs)	CFTR (L136fs)	Microsatellite (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 38850	NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)	CFTR (I148T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 555190	NM_000492.4(CFTR):c.445G>T (p.Gly149Ter)	CFTR (G149*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 487384	NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer)	CFTR	Deletion (nonsense)	Cystic fibrosis	GPathogenic
Select item 53969	NM_000492.4(CFTR):c.489+2T>C	CFTR	Single nucleotide variant (splice donor variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 179210	NM_000492.4(CFTR):c.489+8T>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 553082	NM_000492.4(CFTR):c.489+25A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 557772	NM_000492.4(CFTR):c.489+87_489+88dup	CFTR	Duplication (intron variant)	Cystic fibrosis	GLikely benign
Select item 555484	NM_000492.4(CFTR):c.489+91A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GLikely benign
Select item 555935	NM_000492.4(CFTR):c.490-26del	CFTR	Deletion (intron variant)	Cystic fibrosis	GLikely benign
Select item 53974	NM_000492.4(CFTR):c.490-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic
Select item 557576	NM_000492.4(CFTR):c.505A>G (p.Ser169Gly)	CFTR (S169G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 553086	NM_000492.4(CFTR):c.506dup (p.Ser169fs)	CFTR (S169fs)	Duplication (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 455782	NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)	CFTR (R170C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 53983	NM_000492.4(CFTR):c.509G>A (p.Arg170His)	CFTR (R170H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +6 more	GConflicting classifications of pathogenicity
Select item 53986	NM_000492.4(CFTR):c.523A>G (p.Ile175Val)	CFTR (I175V)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GConflicting classifications of pathogenicity
Select item 53990	NM_000492.4(CFTR):c.530T>C (p.Ile177Thr)	CFTR (I177T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 53992	NM_000492.4(CFTR):c.533G>A (p.Gly178Glu)	CFTR (G178E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 53993	NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)	CFTR (Q179K)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 558712	NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)	CFTR (N186K)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 54001	NM_000492.4(CFTR):c.561C>A (p.Asn187Lys)	CFTR (N187K)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 551100	NM_000492.4(CFTR):c.563T>C (p.Leu188Pro)	CFTR (L188P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 54005	NM_000492.4(CFTR):c.575A>G (p.Asp192Gly)	CFTR (D192G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54007	NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)	CFTR (E193*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 553674	NM_000492.4(CFTR):c.579+34A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 54018	NM_000492.4(CFTR):c.595C>T (p.His199Tyr)	CFTR (H199Y)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54022	NM_000492.4(CFTR):c.601G>A (p.Val201Met)	CFTR (V201M)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 555386	NM_000492.4(CFTR):c.610G>A (p.Ala204Thr)	CFTR (A204T)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 54026	NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)	CFTR (P205S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54034	NM_000492.4(CFTR):c.648G>T (p.Trp216Cys)	CFTR (W216C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 558207	NM_000492.4(CFTR):c.657dup (p.Gln220fs)	CFTR (Q220fs)	Duplication (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 54036	NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)	CFTR (Q220*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic

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