CFTR[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 5210

<< First< Prev

Page of 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 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)	ASZ1, CAPZA2 +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	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 583430	NC_000007.13:g.(?_116339129)_(117144427_?)dup	LOC116186911, LOC123956215 +45 more	Duplication	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 2499643	GRCh38/hg38 7q31.2(chr7:116868268-117565389)	ASZ1, CAPZA2 +42 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 1313755	NC_000007.14:g.117478787A>G	CFTR, LOC111674463	Single nucleotide variant	not provided +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	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis +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 provided +2 more	GConflicting classifications of pathogenicity
Select item 3076103	NM_000492.3(CFTR):c.-752A>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076102	NM_000492.3(CFTR):c.-687T>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 3076101	NM_000492.3(CFTR):c.-566A>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076100	NM_000492.3(CFTR):c.-551T>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076099	NM_000492.3(CFTR):c.-548C>A	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076098	NM_000492.3(CFTR):c.-545A>C	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076097	NM_000492.3(CFTR):c.-536C>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076096	NM_000492.3(CFTR):c.-518G>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 disorder	GLikely benign
Select item 3030210	NC_000007.14:g.117479598C>T	CFTR, LOC111674463	Single nucleotide variant	CFTR-related disorder	GLikely benign
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 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 disorder	GLikely benign
Select item 3031227	NC_000007.14:g.117479748G>C	CFTR, LOC111674463	Single nucleotide variant	CFTR-related disorder	GLikely benign
Select item 237853	NC_000007.14:g.117479807G>C	CFTR, LOC111674463	Single nucleotide variant	Hereditary pancreatitis +3 more	GBenign/Likely benign
Select item 801152	NC_000007.14:g.117479839G>A	CFTR, LOC111674463	Single nucleotide variant	not provided	GUncertain significance
Select item 1132414	NM_000492.4(CFTR):c.-234T>A	CFTR, LOC111674463	Single nucleotide variant	not specified +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	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 3076095	NM_000492.3(CFTR):c.-198G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 2198064	NC_000007.14:g.117479900C>A	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3032058	NC_000007.14:g.117479908G>T	CFTR, LOC111674463	Single nucleotide variant	CFTR-related disorder	GLikely benign
Select item 3076094	NM_000492.3(CFTR):c.-184G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076093	NM_000492.3(CFTR):c.-183G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 439059	NC_000007.14:g.117479930G>A	CFTR, LOC111674463	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 597979	NM_000492.3(CFTR):c.-152G>C	CFTR, LOC111674463	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 3076092	NM_000492.3(CFTR):c.-148A>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076091	NM_000492.3(CFTR):c.-146G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 908193	NM_000492.3(CFTR):c.-139T>G	CFTR, LOC111674463	Single nucleotide variant	CFTR-related disorder	GUncertain significance
Select item 2681864	NM_000492.3(CFTR):c.-116C>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis +1 more	GUncertain significance
Select item 3076090	NM_000492.3(CFTR):c.-106G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	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 disorder	GLikely benign
Select item 3051881	NM_000492.3(CFTR):c.-85C>A	CFTR, LOC111674463	Single nucleotide variant	CFTR-related disorder	GLikely benign
Select item 818099	NM_000492.3(CFTR):c.-85C>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GBenign
Select item 3346424	NM_000492.4(CFTR):c.-36G>A	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	CFTR-related disorder	GLikely benign
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 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)	CFTR, LOC111674463 (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 disorder +4 more	GBenign/Likely benign
Select item 2169688	NM_000492.4(CFTR):c.-7A>T	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis	GUncertain significance
Select item 53157	NM_000492.4(CFTR):c.-4G>C	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis +2 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)	Cystic fibrosis +4 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)	Cystic fibrosis +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 provided	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 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)	Cystic fibrosis +4 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 53