CFTR[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 618930	NM_000492.4(CFTR):c.2T>G (p.Met1Arg)	CFTR (M1R)	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
Select item 53621	NM_000492.4(CFTR):c.2T>A (p.Met1Lys)	CFTR (M1K)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	GPathogenic
Select item 53870	NM_000492.4(CFTR):c.3G>T (p.Met1Ile)	CFTR (M1I)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	Gnot provided
Select item 53869	NM_000492.4(CFTR):c.3G>A (p.Met1Ile)	CFTR (M1I)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	GPathogenic
Select item 618918	NM_000492.4(CFTR):c.4del (p.Gln2fs)	CFTR (Q2fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53981	NM_000492.3(CFTR):c.4_53+69del119ins299	CFTR	Indel	Cystic fibrosis	Gnot provided
Select item 53980	NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)	CFTR (Q2*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 4064472	NM_000492.4(CFTR):c.5A>T (p.Gln2Leu)	CFTR (Q2L)	Single nucleotide variant (missense variant)	CFTR-related disorder	GUncertain significance
Select item 987858	NM_000492.4(CFTR):c.5A>C (p.Gln2Pro)	CFTR (Q2P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3266643	NM_000492.4(CFTR):c.7A>C (p.Arg3=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1325700	NM_000492.4(CFTR):c.7A>T (p.Arg3Trp)	CFTR (R3W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2006304	NM_000492.4(CFTR):c.9del (p.Arg3fs)	CFTR (R3fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 908194	NM_000492.4(CFTR):c.8G>T (p.Arg3Met)	CFTR (R3M)	Single nucleotide variant (missense variant)	CFTR-related disorder +1 more	GUncertain significance
Select item 4064410	NM_000492.4(CFTR):c.11C>G (p.Ser4Trp)	CFTR (S4W)	Single nucleotide variant (missense variant)	CFTR-related disorder	GUncertain significance
Select item 2447414	NM_000492.4(CFTR):c.11C>T (p.Ser4Leu)	CFTR (S4L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 53211	NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)	CFTR (S4*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 3491631	NM_000492.4(CFTR):c.12G>C (p.Ser4=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1648473	NM_000492.4(CFTR):c.12G>T (p.Ser4=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2913712	NM_000492.4(CFTR):c.13C>T (p.Pro5Ser)	CFTR (P5S)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 2873814	NM_000492.4(CFTR):c.14C>G (p.Pro5Arg)	CFTR (P5R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 35824	NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	CFTR (P5L)	Single nucleotide variant (missense variant)	CFTR-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 2856531	NM_000492.4(CFTR):c.15del (p.Leu6fs)	CFTR (L6fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 789399	NM_000492.4(CFTR):c.15T>C (p.Pro5=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis +1 more	GLikely benign
Select item 1151131	NM_000492.4(CFTR):c.16C>T (p.Leu6=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
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 7235	NM_000492.4(CFTR):c.19G>T (p.Glu7Ter)	CFTR (E7*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 908195	NM_000492.4(CFTR):c.23A>G (p.Lys8Arg)	CFTR (K8R)	Single nucleotide variant (missense variant)	CFTR-related disorder	GUncertain significance
Select item 818140	NM_000492.4(CFTR):c.25dup (p.Ala9fs)	CFTR (A9fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 1301327	NM_000492.4(CFTR):c.24G>A (p.Lys8=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis +1 more	GLikely benign
Select item 618014	NM_000492.4(CFTR):c.26C>T (p.Ala9Val)	CFTR (A9V)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 1077742	NM_000492.4(CFTR):c.27C>T (p.Ala9=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1429044	NM_000492.4(CFTR):c.29G>C (p.Ser10Thr)	CFTR (S10T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 439071	NM_000492.4(CFTR):c.29G>A (p.Ser10Asn)	CFTR (S10N)	Single nucleotide variant (missense variant)	CFTR-related disorder +3 more	GUncertain significance
Select item 3766979	NM_000492.4(CFTR):c.30C>A (p.Ser10Arg)	CFTR (S10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629010	NM_000492.4(CFTR):c.30C>T (p.Ser10=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 495928	NM_000492.4(CFTR):c.31G>A (p.Val11Ile)	CFTR (V11I)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 4001820	NM_000492.4(CFTR):c.33T>A (p.Val11=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3717849	NM_000492.4(CFTR):c.35T>C (p.Val12Ala)	CFTR (V12A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 4689723	NM_000492.4(CFTR):c.38C>A (p.Ser13Tyr)	CFTR (S13Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3832540	NM_000492.4(CFTR):c.38C>G (p.Ser13Cys)	CFTR (S13C)	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 1736864	NM_000492.4(CFTR):c.39C>T (p.Ser13=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1736923	NM_000492.4(CFTR):c.40_44del (p.Lys14fs)	CFTR (K14fs)	Deletion (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 1716614	NM_000492.4(CFTR):c.40A>C (p.Lys14Gln)	CFTR (K14Q)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 495943	NM_000492.4(CFTR):c.40A>G (p.Lys14Glu)	CFTR (K14E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 53939	NM_000492.4(CFTR):c.42del (p.Lys14fs)	CFTR (K14fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 53888	NM_000492.4(CFTR):c.40A>T (p.Lys14Ter)	CFTR (K14*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic
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 495946	NM_000492.4(CFTR):c.41A>T (p.Lys14Ile)	CFTR (K14I)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 53979	NM_000492.4(CFTR):c.49_50dup (p.Trp19fs)	CFTR (W19fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic
Select item 53945	NM_000492.4(CFTR):c.43del (p.Leu15fs)	CFTR (L15fs)	Deletion (frameshift variant)	Hereditary pancreatitis +3 more	GPathogenic/Likely pathogenic
Select item 53944	NM_000492.4(CFTR):c.50dup (p.Ser18fs)	CFTR (S18fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1709997	NM_000492.4(CFTR):c.44T>A (p.Leu15His)	CFTR (L15H)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 1706048	NM_000492.4(CFTR):c.49_50del (p.Phe17fs)	CFTR (F17fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 634833	NM_000492.4(CFTR):c.44T>C (p.Leu15Pro)	CFTR (L15P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53984	NM_000492.4(CFTR):c.50del (p.Phe17fs)	CFTR (F17fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1077681	NM_000492.4(CFTR):c.45T>G (p.Leu15=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3832554	NM_000492.4(CFTR):c.49T>G (p.Phe17Val)	CFTR (F17V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1502978	NM_000492.4(CFTR):c.49T>C (p.Phe17Leu)	CFTR (F17L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3912006	NM_000492.4(CFTR):c.51C>T (p.Phe17=)	CFTR	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 618565	NM_000492.4(CFTR):c.51del (p.Phe17fs)	CFTR (F17fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2573430	NM_000492.4(CFTR):c.52A>G (p.Ser18Gly)	CFTR (S18G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1747304	NM_000492.4(CFTR):c.53G>T (p.Ser18Ile)	CFTR (S18I)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3241145	NM_000492.4(CFTR):c.53+1G>C	CFTR	Single nucleotide variant (splice donor variant)	Hereditary pancreatitis +4 more	GPathogenic/Likely pathogenic
Select item 53988	NM_000492.4(CFTR):c.53+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	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 940464	NM_000492.4(CFTR):c.53+3G>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 4064612	NM_000492.4(CFTR):c.53+4A>G	CFTR	Single nucleotide variant (intron variant)	CFTR-related disorder	GUncertain significance
Select item 53989	NM_000492.4(CFTR):c.53+4A>T	CFTR	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1088245	NM_000492.4(CFTR):c.53+8G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 4778527	NM_000492.4(CFTR):c.53+9G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1109182	NM_000492.4(CFTR):c.53+9G>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 1651021	NM_000492.4(CFTR):c.53+10T>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1746702	NM_000492.4(CFTR):c.53+11G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2994191	NM_000492.4(CFTR):c.53+12G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2863703	NM_000492.4(CFTR):c.53+13C>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2795664	NM_000492.4(CFTR):c.53+14C>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1983853	NM_000492.4(CFTR):c.53+16A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1377000	NM_000492.4(CFTR):c.53+17C>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GLikely benign
Select item 3708801	NM_000492.4(CFTR):c.53+18C>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2447431	NM_000492.4(CFTR):c.53+18C>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2730892	NM_000492.4(CFTR):c.53+19G>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 633155	NM_000492.4(CFTR):c.53+34_53+35del	CFTR	Microsatellite (intron variant)	not specified	GUncertain significance
Select item 619837	NM_000492.4(CFTR):c.53+45A>G	CFTR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3348011	NM_000492.4(CFTR):c.53+130A>C	CFTR	Single nucleotide variant (intron variant)	CFTR-related disorder	GUncertain significance
Select item 993063	NM_000492.4(CFTR):c.53+160_53+161del	CFTR	Deletion (intron variant)	not provided	GUncertain significance
Select item 1162240	NM_000492.4(CFTR):c.53+324A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 2579747	NM_000492.4(CFTR):c.53+1005T>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely pathogenic
Select item 818112	NM_000492.4(CFTR):c.53+3158A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GBenign
Select item 2690907	NM_000492.4(CFTR):c.53+3348G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 4280115	NM_000492.4(CFTR):c.53+5863A>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 4280053	NM_000492.4(CFTR):c.53+7039T>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 1275751	NM_000492.4(CFTR):c.53+8298C>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 4280015	NM_000492.4(CFTR):c.54-10546A>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 4280037	NM_000492.4(CFTR):c.54-8216C>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
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

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