"GeneDx"[submitter] AND "CFTR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1313755	NC_000007.14:g.117478787A>G	CFTR, LOC111674463	Single nucleotide variant	not provided +1 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 51031	NM_000492.4(CFTR):c.-226G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
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 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 1325700	NM_000492.4(CFTR):c.7A>T (p.Arg3Trp)	CFTR (R3W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
Select item 495928	NM_000492.4(CFTR):c.31G>A (p.Val11Ile)	CFTR (V11I)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 1217630	NM_000492.4(CFTR):c.54-177T>A	CFTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 35893	NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	CFTR (R31C)	Single nucleotide variant (missense variant)	CFTR-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 35819	NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)	CFTR (S42F)	Single nucleotide variant (missense variant)	CFTR-related disorder +6 more	GUncertain significance
Select item 235283	NM_000492.4(CFTR):c.164+28A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 53317	NM_000492.4(CFTR):c.165-3C>T	CFTR, LOC113664106	Single nucleotide variant (intron 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 7232	NM_000492.4(CFTR):c.262_263del (p.Leu88fs)	CFTR (L88fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 946044	NM_000492.4(CFTR):c.260T>C (p.Phe87Ser)	CFTR (F87S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 961121	NM_000492.4(CFTR):c.264A>C (p.Leu88Phe)	CFTR (L88F)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 7199	NM_000492.4(CFTR):c.273+4A>G	CFTR	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 1265050	NM_000492.4(CFTR):c.273+86T>C	CFTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229576	NM_000492.4(CFTR):c.273+86T>G	CFTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177002	NM_000492.4(CFTR):c.274-179G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GBenign/Likely benign
Select item 237855	NM_000492.4(CFTR):c.274-6T>C	CFTR	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 53720	NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)	CFTR (P111L)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 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 7109	NM_000492.4(CFTR):c.350G>A (p.Arg117His)	CFTR (R117H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 35870	NM_000492.4(CFTR):c.355A>G (p.Ile119Val)	CFTR (I119V)	Single nucleotide variant (missense variant)	CFTR-related disorder +3 more	GUncertain significance
Select item 53774	NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)	CFTR (A120T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 526016	NM_000492.4(CFTR):c.359C>T (p.Ala120Val)	CFTR (A120V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1313140	NM_000492.4(CFTR):c.361A>G (p.Ile121Val)	CFTR (I121V)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 53812	NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)	CFTR (G126D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 38799	NM_000492.4(CFTR):c.489+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53971	NM_000492.4(CFTR):c.489+3A>G	CFTR	Single nucleotide variant (intron variant)	Hereditary pancreatitis +5 more	GConflicting classifications of pathogenicity
Select item 555484	NM_000492.4(CFTR):c.489+91A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GLikely benign
Select item 53983	NM_000492.4(CFTR):c.509G>A (p.Arg170His)	CFTR (R170H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +6 more	GConflicting classifications of pathogenicity
Select item 53993	NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)	CFTR (Q179K)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 3373313	NM_000492.4(CFTR):c.563T>G (p.Leu188Arg)	CFTR (L188R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 495953	NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	CFTR (F191V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1290585	NM_000492.4(CFTR):c.579+113C>T	CFTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292704	NM_000492.4(CFTR):c.580-202G>C	CFTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240493	NM_000492.4(CFTR):c.580-159G>A	CFTR	Single nucleotide variant (intron variant)	not provided	GBenign
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 7190	NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	CFTR (L206W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 7238	NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	CFTR (E217G)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 389270	NM_000492.4(CFTR):c.697C>G (p.Leu233Val)	CFTR (L233V)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 256256	NM_000492.4(CFTR):c.743+40A>G	CFTR	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1208672	NM_000492.4(CFTR):c.743+145G>A	CFTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 35889	NM_000492.4(CFTR):c.744-33GATT[8]	CFTR	Microsatellite (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 43579	NM_000492.4(CFTR):c.744-33GATT[6]	CFTR	Microsatellite (intron variant)	Cystic fibrosis +2 more	GBenign
Select item 1401895	NM_000492.4(CFTR):c.757G>A (p.Gly253Arg)	CFTR (G253R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1314072	NM_000492.4(CFTR):c.841A>G (p.Met281Val)	CFTR (M281V)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
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 54069	NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)	CFTR (N287Y)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 54071	NM_000492.4(CFTR):c.861C>G (p.Asn287Lys)	CFTR (N287K)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 93159	NM_000492.4(CFTR):c.869+11C>T	CFTR	Single nucleotide variant (intron variant)	CFTR-related disorder +3 more	GBenign
Select item 1188052	NM_000492.4(CFTR):c.869+88T>A	CFTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229864	NM_000492.4(CFTR):c.869+233C>A	CFTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259714	NM_000492.4(CFTR):c.870-168A>G	CFTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 495962	NM_000492.4(CFTR):c.870-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	CFTR-related disorder +3 more	GPathogenic/Likely pathogenic
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 198738	NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys)	CFTR (Y301C)	Single nucleotide variant (missense variant)	CFTR-related disorder +6 more	GUncertain significance
Select item 48708	NM_000492.4(CFTR):c.988G>T (p.Gly330Ter)	CFTR	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53159	NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)	CFTR (R334Q)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 7172	NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)	CFTR (A349V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 35816	NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)	CFTR (R352W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 53192	NM_000492.4(CFTR):c.1117-26_1117-25del	CFTR	Microsatellite (intron variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 1312599	NM_000492.4(CFTR):c.1126C>A (p.Gln376Lys)	CFTR (Q376K)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 229652	NM_000492.4(CFTR):c.1210-34TG[12]	CFTR, CFTR-AS1	Microsatellite (intron variant)	not provided +5 more	GBenign
Select item 439475	NM_000492.4(CFTR):c.1210-34TG[10]	CFTR, CFTR-AS1	Microsatellite (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 291054	NM_000492.4(CFTR):c.1210-13_1210-10del	CFTR, CFTR-AS1	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 495892	NM_000492.4(CFTR):c.1210-6del	CFTR, CFTR-AS1	Deletion (intron variant)	not specified +2 more	GUncertain significance
Select item 242535	NM_000492.3(CFTR):c.1210-12T[5]	CFTR, CFTR-AS1	Deletion (intron variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +6 more	GConflicting classifications of pathogenicity
Select item 818605	NM_000492.4(CFTR):c.1210-11delinsGTG	CFTR, CFTR-AS1	Indel (intron variant)	not provided +1 more	GPathogenic
Select item 178713	NM_000492.4(CFTR):c.1210-11T>G	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic; other
Select item 53218	NM_000492.4(CFTR):c.1210-2A>C	CFTR, CFTR-AS1	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 286406	NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)	CFTR, CFTR-AS1 (G424S)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 1801954	NM_000492.4(CFTR):c.1291A>G (p.Ser431Gly)	CFTR, CFTR-AS1 (S431G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 551988	NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)	CFTR, CFTR-AS1 (I444T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 553569	NM_000492.4(CFTR):c.1352G>T (p.Gly451Val)	CFTR, CFTR-AS1 (G451V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 7111	NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)	CFTR, CFTR-AS1 (A455E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 35821	NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	CFTR, CFTR-AS1 (V456A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 7130	NM_000492.4(CFTR):c.1408G>A (p.Val470Met)	CFTR, CFTR-AS1 (V470M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 439478	NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)	CFTR-AS1, CFTR (E479D)	Single nucleotide variant (missense variant)	CFTR-related disorder +6 more	GUncertain significance
Select item 53254	NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)	CFTR, CFTR-AS1 (G480S)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 53257	NM_000492.4(CFTR):c.1450C>T (p.His484Tyr)	CFTR, CFTR-AS1 (H484Y)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1773566	NM_000492.4(CFTR):c.1480T>G (p.Phe494Val)	CFTR, CFTR-AS1 (F494V)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 439055	NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg)	CFTR-AS1, CFTR (W496R)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 7131	NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)	CFTR, CFTR-AS1 (I506V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +3 more	GConflicting classifications of pathogenicity
Select item 7106	NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)	CFTR, CFTR-AS1 (I507del)	Microsatellite (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 1303084	NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly)	CFTR, CFTR-AS1 (R516G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 502030	NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys)	CFTR, CFTR-AS1 (E528K)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 53289	NM_000492.4(CFTR):c.1584G>T (p.Glu528Asp)	CFTR, CFTR-AS1 (E528D)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 43576	NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1201798	NM_000492.4(CFTR):c.1585-152G>T	CFTR, LOC111674475	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 7112	NM_000492.4(CFTR):c.1585-1G>A	CFTR, LOC111674475	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 1305160	NM_000492.4(CFTR):c.1633G>A (p.Gly545Arg)	CFTR, LOC111674475 (G545R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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