C0010674[trait identifier] AND "Johns Hopkins Genomics, Johns Hopkins - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 53157	NM_000492.4(CFTR):c.-4G>C	LOC111674463, CFTR	Single nucleotide variant	not specified +3 more	GBenign/Likely benign
Select item 53980	NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)	CFTR (Q2*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53211	NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)	CFTR (S4*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 495943	NM_000492.4(CFTR):c.40A>G (p.Lys14Glu)	CFTR (K14E)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 53944	NM_000492.4(CFTR):c.50dup (p.Ser18fs)	CFTR (S18fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1162240	NM_000492.4(CFTR):c.53+324A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 2690907	NM_000492.4(CFTR):c.53+3348G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1275751	NM_000492.4(CFTR):c.53+8298C>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 2575236	NM_000492.4(CFTR):c.54-9347T>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 1185023	NM_000492.4(CFTR):c.54-8086A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1065570	NM_000492.4(CFTR):c.54-6168A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 66105	NM_000492.3(CFTR):c.54-5940_273+10250del	CFTR, LOC113664106 +1 more	Deletion	Cystic fibrosis	GPathogenic
Select item 487391	NM_000492.4(CFTR):c.57G>A (p.Trp19Ter)	CFTR (W19*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54013	NM_000492.4(CFTR):c.57G>T (p.Trp19Cys)	CFTR (W19C)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 575729	NM_000492.4(CFTR):c.76A>G (p.Lys26Glu)	CFTR (K26E)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 1048778	NM_000492.4(CFTR):c.89dup (p.Arg31fs)	CFTR (R31fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 35893	NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	CFTR (R31C)	Single nucleotide variant (missense variant)	Cystic fibrosis +6 more	GConflicting classifications of pathogenicity
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 53204	NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)	CFTR (Q39*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 593277	NM_000492.4(CFTR):c.137C>T (p.Ala46Val)	CFTR (A46V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 53303	NM_000492.4(CFTR):c.164+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53314	NM_000492.4(CFTR):c.165-1G>A	CFTR, LOC113664106	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53343	NM_000492.4(CFTR):c.168del (p.Glu56fs)	CFTR, LOC113664106 (E56fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487400	NM_000492.4(CFTR):c.175dup (p.Arg59fs)	LOC113664106, CFTR (R59fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 38730	NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)	CFTR, LOC113664106 (E60*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53425	NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	CFTR (P67L)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 973864	NM_000492.4(CFTR):c.205C>A (p.Leu69Ile)	CFTR (L69I)	Single nucleotide variant (missense variant)	Cystic fibrosis	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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 48672	NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)	CFTR (R75*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53461	NM_000492.4(CFTR):c.224G>T (p.Arg75Leu)	CFTR (R75L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 928495	NM_000492.4(CFTR):c.234dup (p.Trp79fs)	CFTR (W79fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7143	NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)	CFTR (G85E)	Single nucleotide variant (missense variant)	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 53541	NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys)	CFTR (Y89C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 7199	NM_000492.4(CFTR):c.273+4A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 2690893	NM_000492.4(CFTR):c.273+8304C>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 2690895	NM_000492.4(CFTR):c.273+10019C>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2443057	NM_000492.4(CFTR):c.274-8984C>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1065569	NM_000492.4(CFTR):c.274-8558G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1704402	NM_000492.4(CFTR):c.274-8043A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 1704382	NM_000492.4(CFTR):c.274-7526T>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1275743	NM_000492.4(CFTR):c.274-6586A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2443047	NM_000492.4(CFTR):c.274-1407T>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 237855	NM_000492.4(CFTR):c.274-6T>C	CFTR	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 7186	NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)	CFTR (E92*)	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 48684	NM_000492.4(CFTR):c.313del (p.Ile105fs)	CFTR	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7108	NM_000492.4(CFTR):c.328G>C (p.Asp110His)	CFTR (D110H)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 53720	NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)	CFTR (P111L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 53762	NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)	CFTR (R117G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 53765	NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)	CFTR (R117L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 53764	NM_000492.4(CFTR):c.350G>C (p.Arg117Pro)	CFTR (R117P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53912	NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)	CFTR (P140S)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 53924	NM_000492.4(CFTR):c.422C>A (p.Ala141Asp)	CFTR (A141D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
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 53968	NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)	CFTR (K162E)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 53971	NM_000492.4(CFTR):c.489+3A>G	CFTR	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 53974	NM_000492.4(CFTR):c.490-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 1498873	NM_000492.4(CFTR):c.498G>C (p.Lys166Asn)	CFTR (K166N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 455782	NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)	CFTR (R170C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +5 more	GUncertain significance
Select item 53983	NM_000492.4(CFTR):c.509G>A (p.Arg170His)	CFTR (R170H)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
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 53993	NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)	CFTR (Q179K)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 633172	NM_000492.4(CFTR):c.575A>T (p.Asp192Val)	CFTR (D192V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 54010	NM_000492.4(CFTR):c.579+3A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 54016	NM_000492.4(CFTR):c.581G>T (p.Gly194Val)	CFTR (G194V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 818153	NM_000492.4(CFTR):c.586dup (p.Ala196fs)	CFTR (A196fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic
Select item 54018	NM_000492.4(CFTR):c.595C>T (p.His199Tyr)	CFTR (H199Y)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 689440	NM_000492.4(CFTR):c.598T>G (p.Phe200Val)	CFTR (F200V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
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 977093	NM_000492.4(CFTR):c.609C>T (p.Ile203=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 7190	NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	CFTR (L206W)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 411118	NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)	CFTR (G213E)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GUncertain significance
Select item 54036	NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)	CFTR (Q220*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54041	NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	CFTR (V232D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 389270	NM_000492.4(CFTR):c.697C>G (p.Leu233Val)	CFTR (L233V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 54053	NM_000492.4(CFTR):c.743G>C (p.Arg248Thr)	CFTR (R248T)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 2503110	NM_000492.4(CFTR):c.743+554A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 48700	NM_000492.4(CFTR):c.803del (p.Asn268fs)	CFTR (N268fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1704355	NM_000492.4(CFTR):c.838G>A (p.Ala280Thr)	CFTR (A280T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1704404	NM_000492.4(CFTR):c.844G>T (p.Glu282Ter)	CFTR (E282*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 35891	NM_000492.4(CFTR):c.846A>T (p.Glu282Asp)	CFTR (E282D)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 35892	NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)	CFTR (I285F)	Single nucleotide variant (missense variant)	CFTR-related disorder +6 more	GBenign/Likely benign
Select item 54071	NM_000492.4(CFTR):c.861C>G (p.Asn287Lys)	CFTR (N287K)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 2690900	NM_000492.4(CFTR):c.870-682_870-350del	CFTR	Deletion (intron variant)	Cystic fibrosis	GUncertain significance
Select item 1704370	NM_000492.4(CFTR):c.870-178T>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
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)	Cystic fibrosis +3 more	GPathogenic/Likely pathogenic
Select item 54089	NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)	CFTR (G314E)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 53160	NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)	CFTR (R334L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53161	NM_000492.4(CFTR):c.1006_1007insG (p.Ile336fs)	CFTR (I336fs)	Insertion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53162	NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)	CFTR (I336K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7193	NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)	CFTR (T338I)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7134	NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)	CFTR (F342fs)	Microsatellite (frameshift 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 7110	NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)	CFTR (R347P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53173	NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)	CFTR (M348K)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

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