ClinVar for PubMed (Select 28603918) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063777	NC_000007.13:g.(?_117120078)_(117308720_?)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 2682994	NM_000492.4(CFTR):c.1064C>T (p.Pro355Leu)	CFTR (P355L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2581307	NC_000007.13:g.(?_117120016)_(117120202_117144306)del	CFTR	Deletion	Cystic fibrosis	GLikely pathogenic
Select item 1705878	NM_000492.4(CFTR):c.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC	CFTR, LOC111674472	Indel (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 1705877	NM_000492.4(CFTR):c.274-3397_489+710del	CFTR	Deletion (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 1705876	NM_000492.4(CFTR):c.4071_4073delinsAA (p.Arg1358fs)	CFTR (R1358fs)	Indel (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1705875	NM_000492.4(CFTR):c.2743_2745delinsA (p.Val915fs)	CFTR (V915fs)	Indel (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1705874	NM_000492.4(CFTR):c.1792A>T (p.Lys598Ter)	CFTR (K598*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 1705873	NM_000492.4(CFTR):c.54-5811_164+2186delinsGGGAATTCATTCTTGATTTGCCTCTCTGCTGCCTGTTGTTGGTGTAAACAAAATTCATTTCTTGTTCTTATTTGTGAAATTTTGGAACCAAATCTATTTTCAAATTAGAAATTGCTTGTGATAATGGTTTTGCAACTTAGACTGGATATGAGACGATGAGATATTAGTTCTTTCATTCCTTT	CFTR	Indel (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 1705872	Multiple alleles	CFTR	Indel	Cystic fibrosis	GPathogenic
Select item 1705871	NM_000492.4(CFTR):c.613_870-1547del	CFTR, LOC113219471	Deletion (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 1705870	NC_000007.14:g.117660798_117670251delinsTAACT	CFTR, LOC111674468 +1 more	Indel	Cystic fibrosis	GPathogenic
Select item 1705869	NM_000492.4(CFTR):c.2919_2920insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT	CFTR	Insertion (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 1705868	NM_000492.4(CFTR):c.1579_1584+11del	CFTR, CFTR-AS1	Deletion (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 1705867	NM_000492.4(CFTR):c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG	CFTR, LOC111674472	Indel (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 1705866	NM_000492.4(CFTR):c.2637_2644del (p.Val880fs)	CFTR (V880fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1705865	NM_000492.4(CFTR):c.870-12T>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 1705126	NM_000492.4(CFTR):c.4264C>T (p.Arg1422Trp)	CFTR, LOC111674477 (R1422W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1704416	NM_000492.4(CFTR):c.1680-717A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GBenign
Select item 1704415	NM_000492.4(CFTR):c.1585-9218G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GBenign
Select item 1704259	NM_000492.4(CFTR):c.308del (p.Gly103fs)	CFTR (G103fs)	Deletion (frameshift variant)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic
Select item 1704258	NM_000492.4(CFTR):c.769G>T (p.Glu257Ter)	CFTR (E257*)	Single nucleotide variant (nonsense)	CFTR-related disorders +2 more	GPathogenic
Select item 1704257	NM_000492.4(CFTR):c.296C>G (p.Pro99Arg)	CFTR (P99R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic
Select item 1704256	NM_000492.4(CFTR):c.433C>G (p.Leu145Val)	CFTR (L145V)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic
Select item 1074249	NC_000007.13:g.(?_117218381)_(117254777_?)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 983869	NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter)	CFTR (Q1352*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 982013	NC_000007.14:g.(117606754_117610518)_(117614714_117627521)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 977735	NM_000492.4(CFTR):c.[220C>T;3808G>A]	CFTR (D1270N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 928496	NM_000492.4(CFTR):c.2812G>T (p.Val938Leu)	CFTR (V938L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 916697	NM_000492.4(CFTR):c.[1727G>C;2002C>T]	CFTR (G576A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 870319	NM_000492.3(CFTR):c.[1327G>T;1727G>C;2002C>T]	CFTR, CFTR-AS1 (G576A +2 more)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 832990	NC_000007.14:g.(?_117587720)_(117614723_?)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 818209	NM_000492.3:c.(?_-1)_(*1_?)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 818160	NM_000492.4(CFTR):c.54-4235_164+377dup	CFTR	Duplication (splice acceptor variant +1 more)	CFTR-related disorders +1 more	GPathogenic
Select item 818159	NM_000492.4(CFTR):c.2044dup (p.Thr682fs)	CFTR (T682fs)	Duplication (frameshift variant)	CFTR-related disorders +1 more	GPathogenic
Select item 818158	NM_000492.4(CFTR):c.2556T>G (p.Tyr852Ter)	CFTR (Y852*)	Single nucleotide variant (nonsense)	CFTR-related disorders +1 more	GPathogenic
Select item 818157	NM_000492.4(CFTR):c.2450del (p.Gly817fs)	CFTR (G817fs)	Deletion (frameshift variant)	CFTR-related disorders +1 more	GPathogenic
Select item 818156	NM_000492.4(CFTR):c.3469-2880_3717+2150del	LOC113633876, CFTR	Deletion (splice acceptor variant +1 more)	CFTR-related disorders +1 more	GPathogenic
Select item 818155	NM_000492.4(CFTR):c.1210-9_1210-6del	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis +1 more	GPathogenic
Select item 818154	NM_000492.3:c.54-?_164+?del	CFTR	Deletion	Cystic fibrosis +1 more	GPathogenic
Select item 818153	NM_000492.4(CFTR):c.586dup (p.Ala196fs)	CFTR (A196fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic
Select item 818152	NM_000492.4(CFTR):c.671del (p.Phe224fs)	CFTR (F224fs)	Deletion (frameshift variant)	CFTR-related disorders +1 more	GPathogenic
Select item 818151	NM_000492.4(CFTR):c.490-3T>G	CFTR	Single nucleotide variant (intron variant)	CFTR-related disorders	GPathogenic
Select item 818150	NM_000492.4(CFTR):c.4303dup (p.Ser1435fs)	CFTR, LOC111674477 (S1435fs)	Duplication (frameshift variant)	CFTR-related disorders	GPathogenic
Select item 818149	NM_000492.4(CFTR):c.2373del (p.Arg792fs)	CFTR (R792fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 818148	NM_000492.4(CFTR):c.2443del (p.Glu815fs)	CFTR (E815fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 818147	NM_000492.3:c.2989-?_3468+?del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 818146	NM_000492.4(CFTR):c.2065C>T (p.Gln689Ter)	CFTR (Q689*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 818145	NM_000492.4(CFTR):c.2299C>T (p.Gln767Ter)	CFTR (Q767*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 818144	NM_000492.4(CFTR):c.2989-908_3085delinsGACAG	CFTR, LOC111674472	Indel (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 818143	NM_000492.3:c.2989-?_3367+?del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 818142	NM_000492.3:c.274-?_1584+?dup	CFTR	Duplication	Cystic fibrosis	GPathogenic
Select item 818141	NM_000492.4(CFTR):c.2639_2640dup (p.Leu881fs)	CFTR (L881fs)	Microsatellite (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 818140	NM_000492.4(CFTR):c.25dup (p.Ala9fs)	CFTR (A9fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 818139	NM_000492.4(CFTR):c.2924_2925del (p.Arg975fs)	CFTR (R975fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 818138	NM_000492.4(CFTR):c.1616_1617dup (p.Val540Ter)	CFTR, LOC111674475 (V540*)	Microsatellite (nonsense)	Cystic fibrosis	GPathogenic
Select item 818137	NM_000492.4(CFTR):c.1248dup (p.Asn417Ter)	CFTR, CFTR-AS1 (N417*)	Duplication (nonsense)	Cystic fibrosis	GPathogenic
Select item 818136	NM_000492.3:c.1585-?_1766+?del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 818135	NG_016465.4:g.13126_48866dup	CFTR	Duplication	Cystic fibrosis	GPathogenic
Select item 818134	NM_000492.4(CFTR):c.1209+2T>G	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 818133	NM_000492.4(CFTR):c.1904del (p.Asn635fs)	CFTR (N635fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 818132	NM_000492.4(CFTR):c.2045del (p.Thr682fs)	CFTR (T682fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 818131	NM_000492.4(CFTR):c.165-2A>C	LOC113664106, CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 818130	NM_000492.4(CFTR):c.4071del (p.Arg1358fs)	CFTR (R1358fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 818129	NM_000492.4(CFTR):c.4051A>T (p.Lys1351Ter)	CFTR (K1351*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 818128	NM_000492.4(CFTR):c.[3469-189_3717+3822del;3469-331_3469-295del]	CFTR, LOC126860160	Deletion (intron variant +2 more)	Cystic fibrosis	GPathogenic
Select item 818127	NM_000492.4(CFTR):c.410_416del (p.Leu137fs)	CFTR (L137fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 818126	NM_000492.4(CFTR):c.4136+5G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 818125	NM_000492.4(CFTR):c.3838C>T (p.Gln1280Ter)	CFTR (Q1280*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 818124	NM_000492.4(CFTR):c.808C>T (p.Gln270Ter)	CFTR (Q270*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 818123	NM_000492.4(CFTR):c.755delinsGCTGGGAAGAT (p.Ala252fs)	CFTR (A252fs)	Indel (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 818121	NM_000492.4(CFTR):c.[1210-34TG[12];1210-9_1210-6del]	CFTR, CFTR-AS1	Microsatellite (intron variant)	Cystic fibrosis	GPathogenic
Select item 818120	NM_000492.4(CFTR):c.959del (p.Leu320fs)	CFTR (L320fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 818119	NM_000492.4(CFTR):c.874G>T (p.Glu292Ter)	CFTR (E292*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 818118	NM_000492.3:c.870-?_1584+?del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 818117	NM_000492.4(CFTR):c.3191_3192insTTTTAAGCTTAAAAGG (p.Leu1065fs)	CFTR, LOC111674472 (L1065fs)	Insertion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 818116	NM_000492.4(CFTR):c.3468+2T>C	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 818115	NM_000492.4(CFTR):c.3599_3600delinsG (p.Lys1200fs)	CFTR (K1200fs)	Indel (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 818114	NM_000492.4(CFTR):c.3598_3599delinsG (p.Lys1200fs)	CFTR (K1200fs)	Indel (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 818113	NM_000492.4(CFTR):c.2989-313A>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GPathogenic
Select item 818112	NM_000492.4(CFTR):c.53+3158A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GBenign
Select item 818109	NM_000492.4(CFTR):c.1210-34=	CFTR-AS1, CFTR	Microsatellite (intron variant)	Cystic fibrosis	GBenign
Select item 818107	NM_000492.4(CFTR):c.1392+60dup	CFTR, CFTR-AS1	Duplication (intron variant)	Cystic fibrosis	GBenign
Select item 818106	NM_000492.4(CFTR):c.1393-61A>G	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 818104	NM_000492.4(CFTR):c.2989-81del	LOC111674472, CFTR	Deletion (intron variant)	Cystic fibrosis	GBenign
Select item 818103	NM_000492.4(CFTR):c.*133dup	CFTR	Duplication (3 prime UTR variant)	Cystic fibrosis	GBenign
Select item 818102	NM_000492.4(CFTR):c.744-33=	CFTR	Variation (intron variant)	Cystic fibrosis	GBenign
Select item 818101	NG_016465.4:g.18346T>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GBenign
Select item 818099	NM_000492.3(CFTR):c.-85C>G	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis	GBenign
Select item 818098	NM_000492.4(CFTR):c.3964-283T>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GBenign
Select item 818097	NM_000492.4(CFTR):c.3874-200G>A	CFTR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 818096	NM_000492.4(CFTR):c.3469-65C>A	CFTR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 818095	NM_000492.4(CFTR):c.273+46T>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GBenign
Select item 818094	NM_000492.4(CFTR):c.1766+152T>A	CFTR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 818093	NM_000492.4(CFTR):c.4137-139G>A	CFTR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 818092	NM_000492.4(CFTR):c.3368-140A>C	CFTR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 818091	NM_000492.4(CFTR):c.3963+69A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 818090	NM_000492.4(CFTR):c.2909-71G>C	CFTR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 818089	NM_000492.4(CFTR):c.3874-105T>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GBenign
Select item 818088	NM_000492.4(CFTR):c.2909-92G>A	CFTR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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