"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 53939	NM_000492.4(CFTR):c.42del (p.Lys14fs)	CFTR (K14fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 53945	NM_000492.4(CFTR):c.43del (p.Leu15fs)	CFTR (L15fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic
Select item 53944	NM_000492.4(CFTR):c.50dup (p.Ser18fs)	CFTR (S18fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic
Select item 1706048	NM_000492.4(CFTR):c.49_50del (p.Phe17fs)	CFTR (F17fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 53984	NM_000492.4(CFTR):c.50del (p.Phe17fs)	CFTR (F17fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 2579747	NM_000492.4(CFTR):c.53+1005T>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely pathogenic
Select item 66105	NM_000492.3(CFTR):c.54-5940_273+10250del	CFTR, LOC113664106 +1 more	Deletion	Cystic fibrosis	GPathogenic
Select item 53994	NM_000492.4(CFTR):c.54-1161_164+1603del	CFTR	Deletion (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 1706053	NM_000492.4(CFTR):c.71T>A (p.Leu24Ter)	CFTR (L24*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 54059	NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)	CFTR (G27R)	Single nucleotide variant (missense variant)	Cystic fibrosis	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 1706023	NM_000492.4(CFTR):c.97G>T (p.Glu33Ter)	CFTR (E33*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 53204	NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)	CFTR (Q39*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 1459556	NM_000492.4(CFTR):c.156del (p.Lys52fs)	CFTR (K52fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53305	NM_000492.4(CFTR):c.164+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53302	NM_000492.4(CFTR):c.164+12T>C	CFTR	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 53315	NM_000492.4(CFTR):c.165-2A>G	CFTR, LOC113664106	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis +1 more	GPathogenic
Select item 1706067	NM_000492.4(CFTR):c.206T>G (p.Leu69Arg)	CFTR (L69R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 1706004	NM_000492.4(CFTR):c.221G>C (p.Arg74Pro)	CFTR	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 53456	NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)	CFTR (R74Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 53482	NM_000492.4(CFTR):c.236G>A (p.Trp79Ter)	CFTR (W79*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 1706005	NM_000492.4(CFTR):c.241T>C (p.Phe81Leu)	CFTR (F81L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1706006	NM_000492.4(CFTR):c.253_255del (p.Gly85del)	CFTR	Deletion (inframe_deletion)	Cystic fibrosis	GUncertain significance
Select item 7186	NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)	CFTR (E92*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 1705998	NM_000492.4(CFTR):c.288_296del (p.Val97_Pro99del)	CFTR	Deletion (inframe_deletion)	Cystic fibrosis	GUncertain significance
Select item 53600	NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)	CFTR (Q98*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53637	NM_000492.4(CFTR):c.303dup (p.Leu102fs)	CFTR (L102fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic
Select item 53633	NM_000492.4(CFTR):c.302T>G (p.Leu101Ter)	CFTR (L101*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 1706074	NM_000492.4(CFTR):c.320C>G (p.Ala107Gly)	CFTR	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 53692	NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)	CFTR (S108F)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 1453724	NM_000492.4(CFTR):c.326_327del (p.Ser108_Tyr109insTer)	CFTR	Deletion (nonsense)	Cystic fibrosis	GPathogenic
Select item 53702	NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)	CFTR (Y109*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 7108	NM_000492.4(CFTR):c.328G>C (p.Asp110His)	CFTR (D110H)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
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 53774	NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)	CFTR (A120T)	Single nucleotide variant (missense variant)	not provided +3 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 582298	NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)	CFTR (L137P)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 53905	NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)	CFTR	Duplication (inframe_insertion)	Cystic fibrosis	GPathogenic
Select item 1706046	NM_000492.4(CFTR):c.412_413insACT (p.Leu137_Leu138insHis)	CFTR	Insertion (inframe_insertion)	Cystic fibrosis	GUncertain significance
Select item 1706042	NM_000492.4(CFTR):c.440A>C (p.His147Pro)	CFTR (H147P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
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 801156	NM_000492.4(CFTR):c.449T>A (p.Met150Lys)	CFTR (M150K)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 618958	NM_000492.4(CFTR):c.449T>G (p.Met150Arg)	CFTR (M150R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 53955	NM_000492.4(CFTR):c.454A>G (p.Met152Val)	CFTR (M152V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 1518294	NM_000492.4(CFTR):c.458G>A (p.Arg153Lys)	CFTR (R153K)	Single nucleotide variant (missense variant)	Spermatogenic failure, Y-linked, 2 +6 more	GConflicting classifications of pathogenicity
Select item 53962	NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)	CFTR (L159S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1392039	NM_000492.4(CFTR):c.488A>T (p.Lys163Met)	CFTR (K163M)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 53972	NM_000492.4(CFTR):c.489G>A (p.Lys163=)	CFTR	Single nucleotide variant (synonymous variant)	not specified +1 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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1706049	NM_000492.4(CFTR):c.498del (p.Lys166fs)	CFTR (K166fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53983	NM_000492.4(CFTR):c.509G>A (p.Arg170His)	CFTR (R170H)	Single nucleotide variant (missense variant)	Cystic fibrosis +6 more	GConflicting classifications of pathogenicity
Select item 53986	NM_000492.4(CFTR):c.523A>G (p.Ile175Val)	CFTR (I175V)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GConflicting classifications of pathogenicity
Select item 53992	NM_000492.4(CFTR):c.533G>A (p.Gly178Glu)	CFTR (G178E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 1706051	NM_000492.4(CFTR):c.535C>T (p.Gln179Ter)	CFTR (Q179*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 2579744	NM_000492.4(CFTR):c.558del (p.Asn186fs)	CFTR (N186fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 54002	NM_000492.4(CFTR):c.567C>A (p.Asn189Lys)	CFTR (N189K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 54010	NM_000492.4(CFTR):c.579+3A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 54012	NM_000492.4(CFTR):c.579+5G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 837464	NM_000492.4(CFTR):c.580-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 1300164	NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)	CFTR (G194R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54016	NM_000492.4(CFTR):c.581G>T (p.Gly194Val)	CFTR (G194V)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 7238	NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	CFTR (E217G)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 54036	NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)	CFTR (Q220*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54041	NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	CFTR (V232D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 811381	NM_000492.4(CFTR):c.708del (p.Gln237fs)	CFTR (Q237fs)	Deletion (frameshift variant)	not specified +1 more	GPathogenic
Select item 54043	NM_000492.4(CFTR):c.711G>C (p.Gln237His)	CFTR (Q237H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2579737	NM_000492.4(CFTR):c.722G>A (p.Gly241Glu)	CFTR	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
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 370635	NM_000492.4(CFTR):c.744-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 1706054	NM_000492.4(CFTR):c.748C>T (p.Gln250Ter)	CFTR (Q250*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 1706055	NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer)	CFTR	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 54069	NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)	CFTR (N287Y)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 2579740	NM_000492.4(CFTR):c.869+5G>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 945120	NM_000492.4(CFTR):c.874_875del (p.Glu292fs)	CFTR (E292fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 54082	NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)	CFTR (R297Q)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 54089	NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)	CFTR (G314E)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 7163	NM_000492.4(CFTR):c.948del (p.Phe316fs)	CFTR	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1706059	NM_000492.4(CFTR):c.972del (p.Tyr325fs)	CFTR (Y325fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 35895	NM_000492.4(CFTR):c.997C>T (p.Leu333Phe)	CFTR (L333F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +4 more	GUncertain significance
Select item 7139	NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	CFTR (R334W)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53160	NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)	CFTR (R334L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53161	NM_000492.4(CFTR):c.1006_1007insG (p.Ile336fs)	CFTR (I336fs)	Insertion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53162	NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)	CFTR (I336K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7134	NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)	CFTR (F342fs)	Microsatellite (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53167	NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)	CFTR (S341P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53171	NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro)	CFTR (L346P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7171	NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu)	CFTR (R347L)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +2 more	GPathogenic/Likely pathogenic
Select item 1706062	NM_000492.4(CFTR):c.1068G>A (p.Trp356Ter)	CFTR (W356*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic
Select item 1706073	NM_000492.4(CFTR):c.1080del (p.Trp361fs)	CFTR (W361fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53184	NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)	CFTR (W361R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 1706069	NM_000492.4(CFTR):c.1116+2T>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53194	NM_000492.4(CFTR):c.1117-5A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 209059	NM_000492.4(CFTR):c.1117-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53200	NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)	CFTR (E379*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 1706077	NM_000492.4(CFTR):c.1159_1160del (p.Leu387fs)	CFTR (L387fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1706040	NM_000492.4(CFTR):c.1209G>T (p.Glu403Asp)	CFTR (E403D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic

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