CFTR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 3024369	GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)	LOC113219472, LOC113633876 +131 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 154392	GRCh38/hg38 7q31.1-31.31(chr7:114898882-117790123)x1	ASZ1, CAPZA2 +131 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 583430	NC_000007.13:g.(?_116339129)_(117144427_?)dup	LOC126860157, LOC126860158 +45 more	Duplication	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 2499643	GRCh38/hg38 7q31.2(chr7:116868268-117565389)	LOC111674478, LOC113219433 +42 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	AASS, AHCYL2 +492 more	Copy number loss	See cases	GPathogenic
Select item 1313755	NC_000007.14:g.117478787A>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 1144671	NM_000492.3(CFTR):c.-1043dup	CFTR, LOC111674463	Duplication	not provided +2 more	GConflicting classifications of pathogenicity
Select item 818101	NG_016465.4:g.18346T>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GBenign
Select item 990530	NM_000492.4(CFTR):c.-939A>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 557329	NM_000492.3(CFTR):c.-893_-891del	LOC111674463, CFTR	Deletion	Cystic fibrosis	GUncertain significance
Select item 1535894	NM_000492.3(CFTR):c.-887_-885del	CFTR, LOC111674463	Microsatellite	Cystic fibrosis	GLikely benign
Select item 51027	NM_000492.4(CFTR):c.-887C>T	CFTR, LOC111674463	Single nucleotide variant	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GBenign/Likely benign
Select item 1164542	NC_000007.14:g.117479234del	CFTR, LOC111674463	Deletion	Cystic fibrosis	GBenign
Select item 558519	NM_000492.3(CFTR):c.-837T>C	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 1330022	NM_000492.3(CFTR):c.-828C>T	CFTR, LOC111674463	Single nucleotide variant	not provided	GUncertain significance
Select item 51029	NM_000492.4(CFTR):c.-812T>G	CFTR, LOC111674463	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
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 1745530	NM_000492.3(CFTR):c.-512C>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GLikely benign
Select item 1330111	NM_000492.3(CFTR):c.-511G>C	CFTR, LOC111674463	Single nucleotide variant	not provided	GUncertain significance
Select item 1745194	NM_000492.3(CFTR):c.-507A>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GLikely benign
Select item 3054540	NC_000007.14:g.117479592G>A	CFTR, LOC111674463	Single nucleotide variant	CFTR-related condition	GLikely benign
Select item 3030210	NC_000007.14:g.117479598C>T	CFTR, LOC111674463	Single nucleotide variant	CFTR-related condition	GLikely benign
Select item 51030	NM_000492.3(CFTR):c.-495C>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 189027	NM_000492.3(CFTR):c.-461A>G	CFTR, LOC111674463	Single nucleotide variant	CFTR-related condition +3 more	GConflicting classifications of pathogenicity
Select item 439085	NM_000492.3(CFTR):c.-448A>G	LOC111674463, CFTR	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 990531	NM_000492.4(CFTR):c.-439G>A	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3061385	NC_000007.14:g.117479742G>C	CFTR, LOC111674463	Single nucleotide variant	CFTR-related condition	GLikely benign
Select item 3031227	NC_000007.14:g.117479748G>C	CFTR, LOC111674463	Single nucleotide variant	CFTR-related condition	GLikely benign
Select item 237853	NM_000492.3(CFTR):c.-288G>C	CFTR, LOC111674463	Single nucleotide variant	not specified +3 more	GBenign/Likely benign
Select item 801152	NM_000492.3(CFTR):c.-256G>A	CFTR, LOC111674463	Single nucleotide variant	CFTR-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1132414	NM_000492.3(CFTR):c.-234T>A	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 1789708	NM_000492.3(CFTR):c.-232G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GLikely benign
Select item 51031	NM_000492.4(CFTR):c.-226G>T	LOC111674463, CFTR	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2198064	NC_000007.14:g.117479900C>A	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3032058	NC_000007.14:g.117479908G>T	CFTR, LOC111674463	Single nucleotide variant	CFTR-related condition	GLikely benign
Select item 439059	NM_000492.3(CFTR):c.-165G>A	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis +1 more	GUncertain significance
Select item 597979	NM_000492.3(CFTR):c.-152G>C	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis +1 more	GUncertain significance
Select item 908193	NM_000492.3(CFTR):c.-139T>G	CFTR, LOC111674463	Single nucleotide variant	CFTR-related disorders	GUncertain significance
Select item 2681864	NM_000492.3(CFTR):c.-116C>T	CFTR, LOC111674463	Single nucleotide variant	not provided	GUncertain significance
Select item 7226	NM_000492.3(CFTR):c.-102A=	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GPathogenic
Select item 3055016	NM_000492.3(CFTR):c.-93G>C	CFTR, LOC111674463	Single nucleotide variant	CFTR-related condition	GLikely benign
Select item 3051881	NM_000492.3(CFTR):c.-85C>A	CFTR, LOC111674463	Single nucleotide variant	CFTR-related condition	GLikely benign
Select item 818099	NM_000492.3(CFTR):c.-85C>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GBenign
Select item 552672	NM_000492.4(CFTR):c.-34C>T	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 618013	NM_000492.4(CFTR):c.-16C>T	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2413278	NM_000492.4(CFTR):c.-13C>A	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis	GUncertain significance
Select item 53158	NM_000492.4(CFTR):c.-9_14del (p.Met1fs)	LOC111674463, CFTR (M1fs)	Deletion (frameshift variant +1 more)	Cystic fibrosis	GPathogenic
Select item 1650184	NM_000492.4(CFTR):c.-11C>T	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis	GLikely benign
Select item 1330548	NM_000492.4(CFTR):c.-9C>T	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 556329	NM_000492.4(CFTR):c.-8GA[4]	CFTR, LOC111674463	Microsatellite (5 prime UTR variant)	Cystic fibrosis	GUncertain significance
Select item 1379956	NM_000492.4(CFTR):c.-8G>A	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis	GUncertain significance
Select item 93148	NM_000492.4(CFTR):c.-8G>C	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	CFTR-related disorders +4 more	GBenign/Likely benign
Select item 2169688	NM_000492.4(CFTR):c.-7A>T	LOC111674463, CFTR	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis	GUncertain significance
Select item 53157	NM_000492.4(CFTR):c.-4G>C	CFTR, LOC111674463	Single nucleotide variant	CFTR-related condition +3 more	GBenign/Likely benign
Select item 1350266	NM_000492.4(CFTR):c.-2C>T	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis	GUncertain significance
Select item 2447395	NM_000492.4(CFTR):c.-1C>G	CFTR, LOC111674463	Single nucleotide variant (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 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)	CFTR-related condition +5 more	GPathogenic/Likely pathogenic
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 1320029	NM_000492.4(CFTR):c.[4C>T;7A>T]	CFTR (Q2* +1 more)	Single nucleotide variant (nonsense +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 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 1325700	NM_000492.4(CFTR):c.7A>T (p.Arg3Trp)	CFTR (R3W)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 disorders +1 more	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 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	GLikely pathogenic
Select item 2873814	NM_000492.4(CFTR):c.14C>G (p.Pro5Arg)	CFTR (P5R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 35824	NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	CFTR (P5L)	Single nucleotide variant (missense variant)	CFTR-related disorders +4 more	GConflicting classifications of pathogenicity
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	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 disorders	GUncertain significance
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 1301327	NM_000492.4(CFTR):c.24G>A (p.Lys8=)	CFTR	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 618014	NM_000492.4(CFTR):c.26C>T (p.Ala9Val)	CFTR (A9V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 disorders +3 more	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 +6 more	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

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