ClinVar for Gene (Select 1080) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3366763	NM_000492.4(CFTR):c.2672del (p.Asp891fs)	CFTR (D891fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 3366755	NM_000492.4(CFTR):c.1174G>C (p.Val392Leu)	CFTR (V392L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366738	NM_000492.4(CFTR):c.352T>C (p.Ser118Pro)	CFTR (S118P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366607	NM_000492.4(CFTR):c.2988+2del	CFTR	Deletion (splice donor variant)	Cystic fibrosis	GLikely pathogenic
Select item 3366417	NM_000492.4(CFTR):c.4374dup (p.Lys1459fs)	CFTR, LOC111674477 (K1459fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 3356304	NM_000492.4(CFTR):c.866G>C (p.Arg289Thr)	CFTR (R289T)	Single nucleotide variant (missense variant)	CFTR-related disorder	GUncertain significance
Select item 3356149	NM_000492.4(CFTR):c.3158C>G (p.Thr1053Ser)	CFTR, LOC111674472 (T1053S)	Single nucleotide variant (missense variant)	CFTR-related disorder	GUncertain significance
Select item 3353780	NM_000492.4(CFTR):c.4243-30C>T	CFTR, LOC111674477	Single nucleotide variant (intron variant)	CFTR-related disorder	GUncertain significance
Select item 3350895	NM_000492.4(CFTR):c.1585-9372C>A	CFTR	Single nucleotide variant (intron variant)	CFTR-related disorder	GLikely benign
Select item 3348011	NM_000492.4(CFTR):c.53+130A>C	CFTR	Single nucleotide variant (intron variant)	CFTR-related disorder	GUncertain significance
Select item 3347621	NM_000492.4(CFTR):c.1584+42C>A	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	CFTR-related disorder	GLikely benign
Select item 3347241	NM_000492.4(CFTR):c.3717+41G>C	CFTR	Single nucleotide variant (intron variant)	CFTR-related disorder	GLikely benign
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 3344613	NM_000492.4(CFTR):c.4337G>A (p.Arg1446Lys)	CFTR, LOC111674477 (R1446K)	Single nucleotide variant (missense variant)	CFTR-related disorder	GUncertain significance
Select item 3344127	NM_000492.4(CFTR):c.3469-304A>G	CFTR	Single nucleotide variant (intron variant)	CFTR-related disorder	GLikely benign
Select item 3344112	NM_000492.4(CFTR):c.3718-2487A>T	CFTR, LOC113633877	Single nucleotide variant (intron variant)	CFTR-related disorder	GLikely benign
Select item 3341327	NM_000492.4(CFTR):c.1364C>G (p.Ala455Gly)	CFTR, CFTR-AS1 (A455G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3339743	NM_000492.4(CFTR):c.1977_1985del (p.Asn659_Leu662delinsLys)	CFTR	Deletion (inframe_indel)	not specified	GUncertain significance
Select item 3339740	NC_000007.13:g.(117188878_117199517)_(117199710_117227792)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 3339570	NM_000492.4(CFTR):c.614C>T (p.Pro205Leu)	CFTR (P205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339497	NM_000492.4(CFTR):c.593C>G (p.Ala198Gly)	CFTR (A198G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339496	NM_000492.4(CFTR):c.400A>G (p.Arg134Gly)	CFTR (R134G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339495	NM_000492.4(CFTR):c.1316C>G (p.Pro439Arg)	CFTR, CFTR-AS1 (P439R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339478	NC_000007.13:g.(117254768_117267575)_(117308720_?)dup	CFTR	Duplication	not specified	GUncertain significance
Select item 3339466	NC_000007.13:g.(117235113_117242879)_(117251863_117254666)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 3339392	NM_000492.4(CFTR):c.1646G>C (p.Ser549Thr)	CFTR, LOC111674475 (S549T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339376	NC_000007.13:g.(117149197_117170952)_(117188878_117199517)dup	CFTR	Duplication	not specified	GUncertain significance
Select item 3339358	NC_000007.13:g.(117149197_117170952)_(117199710_117227792)dup	CFTR	Duplication	not specified	GUncertain significance
Select item 3339271	NM_000492.4(CFTR):c.3193C>G (p.Leu1065Val)	CFTR, LOC111674472 (L1065V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339105	NM_000492.4(CFTR):c.1114C>T (p.Gln372Ter)	CFTR (Q372*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 3337030	NM_000492.4(CFTR):c.54-5852_164+2037del	CFTR	Deletion (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 3337013	NM_000492.4(CFTR):c.2816_2817delinsC (p.His939fs)	CFTR (H939fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 3336657	NM_000492.4(CFTR):c.1435G>C (p.Glu479Gln)	CFTR, CFTR-AS1 (E479Q)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336656	NM_000492.4(CFTR):c.1490T>A (p.Ile497Asn)	CFTR, CFTR-AS1 (I497N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336655	NM_000492.4(CFTR):c.1508A>G (p.Lys503Arg)	CFTR, CFTR-AS1 (K503R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336654	NM_000492.4(CFTR):c.1428G>T (p.Glu476Asp)	CFTR, CFTR-AS1 (E476D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336653	NM_000492.4(CFTR):c.1562T>C (p.Ile521Thr)	CFTR, CFTR-AS1 (I521T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336652	NM_000492.4(CFTR):c.1559T>C (p.Val520Ala)	CFTR, CFTR-AS1 (V520A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336639	NM_000492.4(CFTR):c.1424T>G (p.Leu475Arg)	CFTR, CFTR-AS1 (L475R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336638	NM_000492.4(CFTR):c.1529T>G (p.Val510Gly)	CFTR, CFTR-AS1 (V510G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336637	NM_000492.4(CFTR):c.1447A>G (p.Lys483Glu)	CFTR, CFTR-AS1 (K483E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336636	NM_000492.4(CFTR):c.1574A>C (p.Gln525Pro)	CFTR, CFTR-AS1 (Q525P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336635	NM_000492.4(CFTR):c.1409T>G (p.Val470Gly)	CFTR, CFTR-AS1 (V470G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336634	NM_000492.4(CFTR):c.1398A>T (p.Ser466=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336633	NM_000492.4(CFTR):c.1534T>C (p.Tyr512His)	CFTR, CFTR-AS1 (Y512H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336547	NM_000492.4(CFTR):c.2547_2555del (p.Leu850_Tyr852del)	CFTR	Deletion (inframe_deletion)	Cystic fibrosis	GLikely pathogenic
Select item 3336531	NM_000492.4(CFTR):c.3717+3G>A	CFTR	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3336520	NC_000007.13:g.(117282648_117292895)_(117308720_?)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 3336499	NM_000492.4(CFTR):c.3598A>G (p.Lys1200Glu)	CFTR (K1200E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336411	NC_000007.13:g.(117235113_117242879)_(117267825_117282491)dup	CFTR	Duplication	not specified	GUncertain significance
Select item 3336390	NM_000492.4(CFTR):c.2955C>G (p.Asp985Glu)	CFTR (D985E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336374	NM_000492.4(CFTR):c.1609G>A (p.Asp537Asn)	CFTR, LOC111674475 (D537N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336349	NM_000492.4(CFTR):c.1210-1G>T	CFTR, CFTR-AS1	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336327	NC_000007.13:g.(117242918_117243585)_(117254768_117267575)dup	CFTR	Duplication	Cystic fibrosis	GLikely pathogenic
Select item 3336326	NC_000007.13:g.(117243837_117246727)_(117250724_117251634)dup	CFTR	Duplication	not specified	GUncertain significance
Select item 3336239	NC_000007.13:g.(117230494_117231987)_(117235113_117242879)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 3336237	NC_000007.13:g.(117242918_117243585)_(117243837_117246727)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 3336227	NM_000492.4(CFTR):c.764T>A (p.Ile255Asn)	CFTR (I255N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336210	NM_000492.4(CFTR):c.3037C>A (p.Pro1013Thr)	CFTR, LOC111674472 (P1013T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336162	NM_000492.4(CFTR):c.3181G>A (p.Gly1061Arg)	CFTR, LOC111674472 (G1061R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 3336145	NM_000492.4(CFTR):c.273+1G>C	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GLikely pathogenic
Select item 3266704	NM_000492.4(CFTR):c.2898G>C (p.Thr966=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266703	NM_000492.4(CFTR):c.1963G>T (p.Ala655Ser)	CFTR (A655S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266702	NM_000492.4(CFTR):c.4428A>C (p.Gln1476His)	CFTR, LOC111674477 (Q1476H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266701	NM_000492.4(CFTR):c.1967A>C (p.Glu656Ala)	CFTR (E656A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266700	NM_000492.4(CFTR):c.2652T>A (p.Leu884=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266698	NM_000492.4(CFTR):c.2393C>T (p.Pro798Leu)	CFTR (P798L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266697	NM_000492.4(CFTR):c.2664T>C (p.Pro888=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266696	NM_000492.4(CFTR):c.2105T>C (p.Leu702Pro)	CFTR (L702P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266695	NM_000492.4(CFTR):c.3127C>T (p.Leu1043=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266694	NM_000492.4(CFTR):c.3307A>G (p.Ile1103Val)	CFTR, LOC111674472 (I1103V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266693	NM_000492.4(CFTR):c.4081C>T (p.Leu1361Phe)	CFTR (L1361F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266692	NM_000492.4(CFTR):c.1508A>C (p.Lys503Thr)	CFTR, CFTR-AS1 (K503T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266691	NM_000492.4(CFTR):c.3394A>G (p.Ile1132Val)	CFTR (I1132V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266689	NM_000492.4(CFTR):c.738G>C (p.Lys246Asn)	CFTR (K246N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266688	NM_000492.4(CFTR):c.2501T>C (p.Phe834Ser)	CFTR (F834S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266687	NM_000492.4(CFTR):c.1639A>G (p.Thr547Ala)	CFTR, LOC111674475 (T547A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266686	NM_000492.4(CFTR):c.951G>A (p.Val317=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266685	NM_000492.4(CFTR):c.3635T>C (p.Val1212Ala)	CFTR (V1212A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266684	NM_000492.4(CFTR):c.2858T>C (p.Leu953Ser)	CFTR (L953S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266683	NM_000492.4(CFTR):c.3456T>C (p.Asp1152=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266682	NM_000492.4(CFTR):c.3555C>G (p.Gly1185=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266681	NM_000492.4(CFTR):c.2276C>T (p.Pro759Leu)	CFTR (P759L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266679	NM_000492.4(CFTR):c.145C>G (p.Leu49Val)	CFTR (L49V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266678	NM_000492.4(CFTR):c.4340T>C (p.Val1447Ala)	CFTR, LOC111674477 (V1447A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266677	NM_000492.4(CFTR):c.1011C>T (p.Phe337=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266676	NM_000492.4(CFTR):c.2479G>A (p.Glu827Lys)	CFTR (E827K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266675	NM_000492.4(CFTR):c.1608A>G (p.Lys536=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266674	NM_000492.4(CFTR):c.3111A>G (p.Ser1037=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266673	NM_000492.4(CFTR):c.536A>G (p.Gln179Arg)	CFTR (Q179R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266672	NM_000492.4(CFTR):c.1111A>G (p.Ile371Val)	CFTR (I371V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266671	NM_000492.4(CFTR):c.4373G>T (p.Cys1458Phe)	CFTR, LOC111674477 (C1458F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance

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