"Eurofins Ntd Llc (ga)"[submitter] AND "CFTR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 189027	NM_000492.3(CFTR):c.-461A>G	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis +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 237853	NM_000492.3(CFTR):c.-288G>C	CFTR, LOC111674463	Single nucleotide variant	not specified +3 more	GBenign/Likely benign
Select item 51031	NM_000492.4(CFTR):c.-226G>T	CFTR, LOC111674463	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
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 93148	NM_000492.4(CFTR):c.-8G>C	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Hereditary pancreatitis +4 more	GBenign/Likely benign
Select item 53157	NM_000492.4(CFTR):c.-4G>C	CFTR, LOC111674463	Single nucleotide variant	not specified +3 more	GBenign/Likely benign
Select item 35824	NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	CFTR (P5L)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GConflicting classifications of pathogenicity
Select item 7235	NM_000492.4(CFTR):c.19G>T (p.Glu7Ter)	CFTR (E7*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 495943	NM_000492.4(CFTR):c.40A>G (p.Lys14Glu)	CFTR (K14E)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 53979	NM_000492.4(CFTR):c.49_50dup (p.Trp19fs)	CFTR (W19fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 35893	NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	CFTR (R31C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +6 more	GConflicting classifications of pathogenicity
Select item 54087	NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)	CFTR (R31L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 502597	NM_000492.4(CFTR):c.94C>A (p.Leu32Met)	CFTR (L32M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 596532	NM_000492.4(CFTR):c.109A>G (p.Ile37Val)	CFTR (I37V)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 35819	NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)	CFTR (S42F)	Single nucleotide variant (missense variant)	Cystic fibrosis +7 more	GUncertain significance
Select item 593277	NM_000492.4(CFTR):c.137C>T (p.Ala46Val)	CFTR (A46V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 53302	NM_000492.4(CFTR):c.164+12T>C	CFTR	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 235283	NM_000492.4(CFTR):c.164+28A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 53314	NM_000492.4(CFTR):c.165-1G>A	CFTR, LOC113664106	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 595751	NM_000492.4(CFTR):c.180G>C (p.Glu60Asp)	CFTR, LOC113664106 (E60D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 53425	NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	CFTR (P67L)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 53428	NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)	CFTR (K68E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 53456	NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)	CFTR (R74Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 35839	NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	CFTR (R75Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +4 more	GConflicting classifications of pathogenicity
Select item 290847	NM_000492.4(CFTR):c.226T>A (p.Cys76Ser)	CFTR (C76S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 53475	NM_000492.4(CFTR):c.233dup (p.Trp79fs)	CFTR (W79fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 498176	NM_000492.4(CFTR):c.250T>C (p.Tyr84His)	CFTR (Y84H)	Single nucleotide variant (missense variant)	CFTR-related condition +3 more	GUncertain significance
Select item 7143	NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)	CFTR (G85E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 237855	NM_000492.4(CFTR):c.274-6T>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 48680	NM_000492.4(CFTR):c.274-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 497781	NM_000492.4(CFTR):c.316A>G (p.Ile106Val)	CFTR (I106V)	Single nucleotide variant (missense variant)	CFTR-related condition +2 more	GUncertain significance
Select item 53714	NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)	CFTR (D110E)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 289879	NM_000492.4(CFTR):c.332C>G (p.Pro111Arg)	CFTR (P111R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 53720	NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)	CFTR (P111L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 48688	NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	CFTR (R117C)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 7109	NM_000492.4(CFTR):c.350G>A (p.Arg117His)	CFTR (R117H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 493462	NM_000492.4(CFTR):c.360G>A (p.Ala120=)	CFTR	Single nucleotide variant (synonymous variant)	CFTR-related disorders +4 more	GConflicting classifications of pathogenicity
Select item 53802	NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)	CFTR (I125T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 597314	NM_000492.4(CFTR):c.377G>T (p.Gly126Val)	CFTR (G126V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 416592	NM_000492.4(CFTR):c.393T>C (p.Phe131=)	CFTR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 595383	NM_000492.4(CFTR):c.403A>G (p.Thr135Ala)	CFTR (T135A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497611	NM_000492.4(CFTR):c.416A>C (p.His139Pro)	CFTR (H139P)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 53912	NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)	CFTR (P140S)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 53948	NM_000492.4(CFTR):c.442del (p.Ile148fs)	CFTR (I148fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53949	NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)	CFTR (I148N)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 38850	NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)	CFTR (I148T)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 53953	NM_000492.4(CFTR):c.451C>A (p.Gln151Lys)	CFTR (Q151K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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)	CFTR-related condition +6 more	GConflicting classifications of pathogenicity
Select item 416598	NM_000492.4(CFTR):c.489+8T>G	CFTR	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 596174	NM_000492.4(CFTR):c.489+87A>G	CFTR	Single nucleotide variant (intron variant)	Hereditary pancreatitis +4 more	GConflicting classifications of pathogenicity
Select item 53983	NM_000492.4(CFTR):c.509G>A (p.Arg170His)	CFTR (R170H)	Single nucleotide variant (missense variant)	CFTR-related condition +7 more	GConflicting classifications of pathogenicity
Select item 597813	NM_000492.4(CFTR):c.561C>T (p.Asn187=)	CFTR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 495953	NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	CFTR (F191V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54007	NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)	CFTR (E193*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 38494	NM_000492.4(CFTR):c.579+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 54016	NM_000492.4(CFTR):c.581G>T (p.Gly194Val)	CFTR (G194V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 54017	NM_000492.4(CFTR):c.592G>C (p.Ala198Pro)	CFTR (A198P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 35887	NM_000492.4(CFTR):c.592G>A (p.Ala198Thr)	CFTR (A198T)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
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 54026	NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)	CFTR (P205S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 54034	NM_000492.4(CFTR):c.648G>T (p.Trp216Cys)	CFTR (W216C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 7238	NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	CFTR (E217G)	Single nucleotide variant (missense variant)	CFTR-related disorders +3 more	GConflicting classifications of pathogenicity
Select item 290978	NM_000492.4(CFTR):c.663G>A (p.Ala221=)	CFTR	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 596890	NM_000492.4(CFTR):c.688C>T (p.Leu230=)	CFTR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 54041	NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	CFTR (V232D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 502028	NM_000492.4(CFTR):c.710A>G (p.Gln237Arg)	CFTR (Q237R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 54046	NM_000492.4(CFTR):c.715G>A (p.Gly239Arg)	CFTR (G239R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 416597	NM_000492.4(CFTR):c.738G>A (p.Lys246=)	CFTR	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 54051	NM_000492.4(CFTR):c.743+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GPathogenic
Select item 35889	NM_000492.4(CFTR):c.744-33GATT[8]	CFTR	Microsatellite (intron variant)	Cystic fibrosis +2 more	GBenign/Likely benign
Select item 54055	NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	CFTR (R258G)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 48700	NM_000492.4(CFTR):c.803del (p.Asn268fs)	CFTR (N268fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 593755	NM_000492.4(CFTR):c.806T>C (p.Ile269Thr)	CFTR (I269T)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 501133	NM_000492.4(CFTR):c.837A>T (p.Glu279Asp)	CFTR (E279D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 189095	NM_000492.4(CFTR):c.850dup (p.Met284fs)	CFTR (M284fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 35891	NM_000492.4(CFTR):c.846A>T (p.Glu282Asp)	CFTR (E282D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 198424	NM_000492.4(CFTR):c.848_860delinsTG (p.Lys283fs)	CFTR (K283fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 35892	NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)	CFTR (I285F)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 54071	NM_000492.4(CFTR):c.861C>G (p.Asn287Lys)	CFTR (N287K)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GUncertain significance
Select item 597514	NM_000492.4(CFTR):c.869+1G>C	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic
Select item 93159	NM_000492.4(CFTR):c.869+11C>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis +3 more	GBenign
Select item 439088	NM_000492.4(CFTR):c.870-7_870-5del	CFTR	Deletion (intron variant)	CFTR-related condition +3 more	GConflicting classifications of pathogenicity
Select item 54082	NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)	CFTR (R297Q)	Single nucleotide variant (missense variant)	not specified +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)	Cystic fibrosis +6 more	GUncertain significance
Select item 54086	NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)	CFTR (A309G)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 48704	NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)	CFTR (F312del)	Microsatellite (inframe_deletion)	Cystic fibrosis +3 more	GPathogenic/Likely pathogenic
Select item 455784	NM_000492.4(CFTR):c.944T>C (p.Phe315Ser)	CFTR (F315S)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 7163	NM_000492.4(CFTR):c.948del (p.Phe316fs)	CFTR	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 281724	NM_000492.4(CFTR):c.948T>G (p.Phe316Leu)	CFTR (F316L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 35894	NM_000492.4(CFTR):c.958T>G (p.Leu320Val)	CFTR (L320V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +7 more	GConflicting classifications of pathogenicity
Select item 285419	NM_000492.4(CFTR):c.960A>G (p.Leu320=)	CFTR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 598686	NM_000492.4(CFTR):c.974A>G (p.Tyr325Cys)	CFTR (Y325C)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 53159	NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)	CFTR (R334Q)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 53162	NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)	CFTR (I336K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic

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