ClinVar (all) for Orgtrack (Select 500092) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1300168	NM_000492.4(CFTR):c.[3846G>A;3848G>T]	CFTR (W1282* +1 more)	Single nucleotide variant (nonsense +1 more)	Cystic fibrosis	GPathogenic
Select item 1300167	NM_000492.4(CFTR):c.[1523T>G;3752G>A]	CFTR, CFTR-AS1 (F508C +1 more)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1300166	NM_000492.4(CFTR):c.3600del (p.Asp1201fs)	CFTR (D1201fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1300165	NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter)	CFTR (R1128*)	Single nucleotide variant (nonsense)	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 1300163	NM_000492.4(CFTR):c.761del (p.Lys254fs)	CFTR (K254fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1300162	NM_000492.3:c.(273+1_274-1)_(1584+1_1585-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 1300161	NM_000492.3:c.54-5842_489+401del	CFTR	Deletion	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 634837	NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C]	CFTR, CFTR-AS1 +1 more	Deletion (inframe_deletion +1 more)	Cystic fibrosis	GPathogenic
Select item 634836	NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys)	CFTR, CFTR-AS1 (E474K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 634835	NM_000492.3(CFTR):c.[1397C>G;3209G>A]	CFTR, CFTR-AS1 +1 more (S466* +1 more)	Single nucleotide variant (nonsense +1 more)	Cystic fibrosis	GPathogenic
Select item 634834	NM_000492.4(CFTR):c.1358T>C (p.Leu453Ser)	CFTR, CFTR-AS1 (L453S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 634833	NM_000492.4(CFTR):c.44T>C (p.Leu15Pro)	CFTR (L15P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 634832	NM_000492.4(CFTR):c.3806T>A (p.Ile1269Asn)	CFTR (I1269N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 634831	NM_000492.3(CFTR):c.(3367+1_3368-1)_(3468+1_3469-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 634830	NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del)	CFTR, LOC111674472	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 634829	NM_000492.4(CFTR):c.1943del (p.Asp648fs)	CFTR (D648fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 618905	NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)	CFTR, LOC111674472 (W1098C)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 555883	NM_000492.4(CFTR):c.2822del (p.Leu941fs)	CFTR (L941fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 554406	NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)	CFTR, CFTR-AS1 (S434*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 554293	NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)	CFTR (L102R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 551822	NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)	CFTR (I1366N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 495953	NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	CFTR (F191V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 487402	NM_000492.4(CFTR):c.4086dup (p.Lys1363Ter)	CFTR (K1363*)	Duplication (nonsense)	Cystic fibrosis	GPathogenic
Select item 487401	NM_000492.4(CFTR):c.3900dup (p.Arg1301Ter)	CFTR (R1301*)	Duplication (nonsense)	Cystic fibrosis	GPathogenic
Select item 487400	NM_000492.4(CFTR):c.175dup (p.Arg59fs)	CFTR, LOC113664106 (R59fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487399	NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer)	CFTR	Microsatellite (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487397	NM_000492.4(CFTR):c.2053dup (p.Gln685fs)	CFTR (Q685fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487396	NM_000492.4(CFTR):c.2601dup (p.Val868fs)	CFTR (V868fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487393	NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs)	CFTR (N386fs)	Microsatellite (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487392	NM_000492.4(CFTR):c.1130dup (p.Gln378fs)	CFTR (Q378fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487391	NM_000492.4(CFTR):c.57G>A (p.Trp19Ter)	CFTR (W19*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 487390	NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter)	CFTR (Q1330*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 487389	NM_000492.3(CFTR):c.(273+1_274-1)_(1679+1_1680-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 487388	NM_000492.3(CFTR):c.(164+1_165-1)_(1584_+1_1585-1)del(2619+1_2620-1)_(2988+1_2989-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 487387	NM_000492.3(CFTR):c.(3873+1_3874-1)_(3963+1_3964-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 487386	NM_000492.3(CFTR):c.(3468+1_3469-1)_(3963+1_3964-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 487385	NM_000492.4(CFTR):c.717del (p.Gly239_Leu240insTer)	CFTR	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487384	NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer)	CFTR	Deletion (nonsense)	Cystic fibrosis	GPathogenic
Select item 487383	NM_000492.4(CFTR):c.4127_4131del (p.Leu1376fs)	CFTR (L1376fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487381	NM_000492.4(CFTR):c.3468+5G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 487380	NM_000492.3(CFTR):c.3468+2dup	CFTR	Duplication (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 487379	NM_000492.4(CFTR):c.3217dup (p.Tyr1073fs)	CFTR, LOC111674472 (Y1073fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487377	NM_000492.4(CFTR):c.2241_2248del (p.Ile748fs)	CFTR (I748fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487376	NM_000492.4(CFTR):c.1211del	CFTR-AS1, CFTR	Deletion (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 487375	NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg)	CFTR, LOC111674475 (S549R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 455767	NM_000492.4(CFTR):c.2463_2464del (p.Ser821fs)	CFTR (S821fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 370635	NM_000492.4(CFTR):c.744-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 370324	NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)	CFTR, LOC111674477 (S1435fs)	Microsatellite (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 286869	NM_000492.4(CFTR):c.1679+1G>A	CFTR, LOC111674475	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 235283	NM_000492.4(CFTR):c.164+28A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 209067	NM_000492.3(CFTR):c.(1766+1_1767-1)_(2619+1_2620-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 209065	NM_000492.3(CFTR):c.(53+1_54-1)_(489+1_490-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 209064	NM_000492.3(CFTR):c.(1584+1_1585-1)_(1679+1_1680-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 209063	NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del(1584+1_1585-1)_(3468+1_3469-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 209062	NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 209061	NM_000492.4(CFTR):c.1365_1366del (p.Val456fs)	CFTR, CFTR-AS1 (V456fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 209060	NM_000492.3(CFTR):c.(?_1)_(53+1_54-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 209059	NM_000492.4(CFTR):c.1117-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 209057	NM_000492.4(CFTR):c.3294G>A (p.Trp1098Ter)	CFTR, LOC111674472 (W1098X)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 209056	NM_000492.4(CFTR):c.3747del (p.Lys1250fs)	CFTR (K1250fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 209055	NM_000492.3(CFTR):c.(2908+1_2909-1)_(3367+1_3368-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 209053	NM_000492.3(CFTR):c.(743+1_744-1)_(1584+1_1585-1)dup	CFTR	Duplication	Cystic fibrosis	GPathogenic
Select item 209052	NM_000492.3(CFTR):c.(2988+1_2989-1)_(3367+1_3368-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 209051	NM_000492.3(CFTR):c.(2619+1_2620-1)_(3367+1_3368-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 209050	NM_000492.3(CFTR):c.(3963+1_3964-1)_(*1_?)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 209048	NM_000492.3(CFTR):c.(2988+1_2989-1)_(3468+1_3469-1)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 209047	NM_000492.3(CFTR):c.[350G>A;1210-12[5]]	CFTR, CFTR-AS1 (R117H)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	GPathogenic
Select item 209046	NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs)	CFTR (S809fs)	Microsatellite (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 209045	NM_000492.4(CFTR):c.2658-1G>C	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 189095	NM_000492.4(CFTR):c.850dup (p.Met284fs)	CFTR (M284fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 188958	NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)	CFTR, CFTR-AS1 (I444fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 188783	NM_000492.4(CFTR):c.3368-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 66105	NM_000492.3(CFTR):c.54-5940_273+10250del	CFTR, LOC113664106 +1 more	Deletion	Cystic fibrosis	GPathogenic
Select item 66104	NM_000492.4(CFTR):c.3964-78_4242+577del	CFTR, LOC111674477	Deletion (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 66102	NM_000492.4(CFTR):c.2453del (p.Leu818fs)	CFTR (L818fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 54097	NM_000492.4(CFTR):c.987del (p.Gly330fs)	CFTR (G330fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
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 54081	NM_000492.4(CFTR):c.88C>T (p.Gln30Ter)	CFTR (Q30*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54072	NM_000492.4(CFTR):c.861_865del (p.Asn287fs)	CFTR (N287fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 54064	NM_000492.4(CFTR):c.828C>A (p.Cys276Ter)	CFTR (C276*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54061	NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)	CFTR (G27*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54059	NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)	CFTR (G27R)	Single nucleotide variant (missense variant)	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 54040	NM_000492.4(CFTR):c.680T>G (p.Leu227Arg)	CFTR (L227R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54036	NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)	CFTR (Q220*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54035	NM_000492.4(CFTR):c.653T>A (p.Leu218Ter)	CFTR (L218*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54033	NM_000492.4(CFTR):c.647G>A (p.Trp216Ter)	CFTR (W216*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54026	NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)	CFTR (P205S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 54018	NM_000492.4(CFTR):c.595C>T (p.His199Tyr)	CFTR (H199Y)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54014	NM_000492.4(CFTR):c.580-1G>T	CFTR	Single nucleotide variant (splice acceptor 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 54010	NM_000492.4(CFTR):c.579+3A>G	CFTR	Single nucleotide variant (intron 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 54006	NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)	CFTR (E193K)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 54005	NM_000492.4(CFTR):c.575A>G (p.Asp192Gly)	CFTR (D192G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53998	NC_000007.14:g.117504253_117504363del	CFTR	Deletion	Cystic fibrosis	GPathogenic

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