ClinVar for Gene (Select 1080) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 5055

<< First< Prev

Page of 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242024	NM_000492.4(CFTR):c.3782del (p.Leu1261fs)	CFTR (L1261fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 3241146	NM_000492.4(CFTR):c.3932_3933delinsAATATG (p.Ser1311fs)	CFTR (S1311fs)	Indel (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 3241145	NM_000492.4(CFTR):c.53+1G>C	CFTR	Single nucleotide variant (splice donor variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 3241144	NM_000492.4(CFTR):c.2489dup (p.Glu831fs)	CFTR (E831fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 3241143	NM_000492.4(CFTR):c.1616_1617insTT (p.Ile539_Val540insTer)	CFTR, LOC111674475	Insertion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 3241142	NM_000492.4(CFTR):c.2491-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	Bronchiectasis with or without elevated sweat chloride 1	GPathogenic
Select item 3241141	NM_000492.4(CFTR):c.618dup (p.Gln207fs)	CFTR (Q207fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 3241140	NM_000492.4(CFTR):c.1313del (p.Thr438fs)	CFTR, CFTR-AS1 (T438fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 3241139	NM_000492.4(CFTR):c.3745_3750delinsC (p.Gly1249fs)	CFTR (G1249fs)	Indel (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 3241138	NM_000492.4(CFTR):c.1884del (p.Thr629fs)	CFTR (T629fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 3235016	NM_000492.4(CFTR):c.2019_2022dup (p.Ala675fs)	CFTR (A675fs)	Duplication (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 3233983	NC_000007.13:g.(?_117120078)_(117176728_117180153)dup	CFTR	Duplication	not specified	GUncertain significance
Select item 3233963	NM_000492.4(CFTR):c.202A>C (p.Lys68Gln)	CFTR (K68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233913	NM_000492.4(CFTR):c.3873+3G>T	CFTR	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3233876	NM_000492.4(CFTR):c.2363C>T (p.Thr788Ile)	CFTR (T788I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233875	NM_000492.4(CFTR):c.456G>C (p.Met152Ile)	CFTR (M152I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233852	NC_000007.13:g.(117267825_117282491)_(117282648_117292895)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 3233831	NC_000007.13:g.(117144418_117149087)_(117149197_117170952)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 3233783	NM_000492.4(CFTR):c.1624G>A (p.Gly542Arg)	CFTR, LOC111674475 (G542R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233767	NC_000007.13:g.(117227888_117230406)_(117230494_117231987)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 3233738	NM_000492.4(CFTR):c.1736A>C (p.Asp579Ala)	CFTR (D579A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233726	NC_000007.13:g.(117120202_117144306)_(117171169_117174329)del	CFTR	Deletion	Cystic fibrosis	GLikely pathogenic
Select item 3233599	NC_000007.13:g.(?_117120078)_(117120202_117144306)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 3233549	NM_000492.4(CFTR):c.1801A>C (p.Ile601Leu)	CFTR (I601L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233533	NM_000492.4(CFTR):c.1042A>G (p.Met348Val)	CFTR (M348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233532	NM_000492.4(CFTR):c.2375_2377del (p.Arg792_Lys793delinsGln)	CFTR	Deletion (inframe_indel)	not specified	GUncertain significance
Select item 3233530	NM_000492.4(CFTR):c.4078_4079del (p.Val1360fs)	CFTR (V1360fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 3231940	NM_000492.4(CFTR):c.980T>C (p.Leu327Pro)	CFTR (L327P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231939	NM_000492.4(CFTR):c.972C>T (p.Pro324=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231938	NM_000492.4(CFTR):c.949G>T (p.Val317Leu)	CFTR (V317L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231936	NM_000492.4(CFTR):c.899C>A (p.Ala300Asp)	CFTR (A300D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231935	NM_000492.4(CFTR):c.850A>G (p.Met284Val)	CFTR (M284V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231934	NM_000492.4(CFTR):c.839C>A (p.Ala280Glu)	CFTR (A280E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231933	NM_000492.4(CFTR):c.792A>G (p.Glu264=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231932	NM_000492.4(CFTR):c.759G>A (p.Gly253=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231931	NM_000492.4(CFTR):c.744-7T>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 3231930	NM_000492.4(CFTR):c.698T>A (p.Leu233His)	CFTR (L233H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231929	NM_000492.4(CFTR):c.580-19C>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3231927	NM_000492.4(CFTR):c.559A>C (p.Asn187His)	CFTR (N187H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231926	NM_000492.4(CFTR):c.541G>A (p.Val181Ile)	CFTR (V181I)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231925	NM_000492.4(CFTR):c.54-16C>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3231924	NM_000492.4(CFTR):c.531T>G (p.Ile177Met)	CFTR (I177M)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231923	NM_000492.4(CFTR):c.489+3A>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 3231922	NM_000492.4(CFTR):c.4421A>T (p.Glu1474Val)	CFTR, LOC111674477 (E1474V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231921	NM_000492.4(CFTR):c.4373G>A (p.Cys1458Tyr)	CFTR, LOC111674477 (C1458Y)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231919	NM_000492.4(CFTR):c.4311C>G (p.Phe1437Leu)	CFTR, LOC111674477 (F1437L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231918	NM_000492.4(CFTR):c.4299G>A (p.Glu1433=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231917	NM_000492.4(CFTR):c.428T>C (p.Phe143Ser)	CFTR (F143S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231916	NM_000492.4(CFTR):c.4284G>T (p.Gln1428His)	CFTR, LOC111674477 (Q1428H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231913	NM_000492.4(CFTR):c.4258A>G (p.Lys1420Glu)	CFTR, LOC111674477 (K1420E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231912	NM_000492.4(CFTR):c.4257C>A (p.Asn1419Lys)	CFTR, LOC111674477 (N1419K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231911	NM_000492.4(CFTR):c.4247T>C (p.Ile1416Thr)	CFTR, LOC111674477 (I1416T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231909	NM_000492.4(CFTR):c.4212A>G (p.Ile1404Met)	CFTR (I1404M)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231908	NM_000492.4(CFTR):c.4210A>G (p.Ile1404Val)	CFTR (I1404V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231906	NM_000492.4(CFTR):c.3965T>C (p.Val1322Ala)	CFTR (V1322A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231905	NM_000492.4(CFTR):c.3941A>C (p.Glu1314Ala)	CFTR (E1314A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231904	NM_000492.4(CFTR):c.3934G>C (p.Asp1312His)	CFTR (D1312H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231903	NM_000492.4(CFTR):c.3916C>T (p.Pro1306Ser)	CFTR (P1306S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231902	NM_000492.4(CFTR):c.3883A>G (p.Ile1295Val)	CFTR (I1295V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231900	NM_000492.4(CFTR):c.3853G>T (p.Ala1285Ser)	CFTR (A1285S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231899	NM_000492.4(CFTR):c.3843G>A (p.Gln1281=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231898	NM_000492.4(CFTR):c.3768T>A (p.Ala1256=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231897	NM_000492.4(CFTR):c.3722G>C (p.Gly1241Ala)	CFTR (G1241A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231896	NM_000492.4(CFTR):c.3717G>T (p.Arg1239Ser)	CFTR (R1239S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231895	NM_000492.4(CFTR):c.3625C>A (p.Gln1209Lys)	CFTR (Q1209K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231894	NM_000492.4(CFTR):c.3598A>C (p.Lys1200Gln)	CFTR (K1200Q)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231893	NM_000492.4(CFTR):c.3585T>G (p.Asn1195Lys)	CFTR (N1195K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231891	NM_000492.4(CFTR):c.3547A>G (p.Lys1183Glu)	CFTR (K1183E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231890	NM_000492.4(CFTR):c.353C>T (p.Ser118Phe)	CFTR (S118F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231889	NM_000492.4(CFTR):c.3495G>A (p.Lys1165=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231888	NM_000492.4(CFTR):c.3473G>C (p.Arg1158Pro)	CFTR (R1158P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231887	NM_000492.4(CFTR):c.3367+7T>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3231886	NM_000492.4(CFTR):c.3360A>C (p.Leu1120Phe)	CFTR, LOC111674472 (L1120F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231885	NM_000492.4(CFTR):c.3340G>A (p.Val1114Ile)	CFTR, LOC111674472 (V1114I)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231884	NM_000492.4(CFTR):c.333G>T (p.Pro111=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231883	NM_000492.4(CFTR):c.3329T>G (p.Phe1110Cys)	CFTR, LOC111674472 (F1110C)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231882	NM_000492.4(CFTR):c.331C>T (p.Pro111Ser)	CFTR (P111S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231881	NM_000492.4(CFTR):c.3264C>T (p.Asn1088=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231880	NM_000492.4(CFTR):c.3244C>T (p.Leu1082=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231879	NM_000492.4(CFTR):c.3242C>G (p.Ala1081Gly)	CFTR, LOC111674472 (A1081G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance

<< First< Prev

Page of 51