ClinVar for MedGen (Select 41393) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235016	NM_000492.4(CFTR):c.2019_2022dup (p.Ala675fs)	CFTR (A675fs)	Duplication (frameshift variant)	Cystic fibrosis	GLikely pathogenic
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 3233767	NC_000007.13:g.(117227888_117230406)_(117230494_117231987)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
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 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
Select item 3231878	NM_000492.4(CFTR):c.3140-3C>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 3231877	NM_000492.4(CFTR):c.3113A>G (p.Gln1038Arg)	CFTR, LOC111674472 (Q1038R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231875	NM_000492.4(CFTR):c.2989-4A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3231874	NM_000492.4(CFTR):c.2951A>G (p.Asp984Gly)	CFTR (D984G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231873	NM_000492.4(CFTR):c.2904A>C (p.Lys968Asn)	CFTR (K968N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231872	NM_000492.4(CFTR):c.2896A>C (p.Thr966Pro)	CFTR (T966P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231871	NM_000492.4(CFTR):c.2869C>T (p.Leu957Phe)	CFTR (L957F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231870	NM_000492.4(CFTR):c.2843T>C (p.Leu948Ser)	CFTR (L948S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231869	NM_000492.4(CFTR):c.2840T>G (p.Ile947Ser)	CFTR (I947S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231868	NM_000492.4(CFTR):c.2807C>G (p.Pro936Arg)	CFTR (P936R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231867	NM_000492.4(CFTR):c.273+8T>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3231866	NM_000492.4(CFTR):c.2654G>A (p.Gly885Glu)	CFTR (G885E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231865	NM_000492.4(CFTR):c.2623G>A (p.Ala875Thr)	CFTR (A875T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231864	NM_000492.4(CFTR):c.2592T>A (p.Ile864=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231863	NM_000492.4(CFTR):c.252T>C (p.Tyr84=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231862	NM_000492.4(CFTR):c.2511G>A (p.Met837Ile)	CFTR (M837I)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231861	NM_000492.4(CFTR):c.2489A>G (p.Lys830Arg)	CFTR (K830R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231859	NM_000492.4(CFTR):c.2416G>C (p.Asp806His)	CFTR (D806H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231858	NM_000492.4(CFTR):c.2337A>G (p.Gln779=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231857	NM_000492.4(CFTR):c.2335C>A (p.Gln779Lys)	CFTR (Q779K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231856	NM_000492.4(CFTR):c.2325C>T (p.His775=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231855	NM_000492.4(CFTR):c.2304T>A (p.Ser768=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231854	NM_000492.4(CFTR):c.2298G>A (p.Arg766=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231853	NM_000492.4(CFTR):c.2267G>A (p.Ser756Asn)	CFTR (S756N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely benign
Select item 3231852	NM_000492.4(CFTR):c.2212T>G (p.Leu738Val)	CFTR (L738V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231851	NM_000492.4(CFTR):c.2186A>G (p.Asp729Gly)	CFTR (D729G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231850	NM_000492.4(CFTR):c.2170A>G (p.Ile724Val)	CFTR (I724V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231849	NM_000492.4(CFTR):c.2169C>T (p.Gly723=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231848	NM_000492.4(CFTR):c.2165A>C (p.Asn722Thr)	CFTR (N722T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231847	NM_000492.4(CFTR):c.2150C>A (p.Thr717Asn)	CFTR (T717N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231846	NM_000492.4(CFTR):c.2133T>C (p.Phe711=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231845	NM_000492.4(CFTR):c.2076G>C (p.Glu692Asp)	CFTR (E692D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231844	NM_000492.4(CFTR):c.2074G>C (p.Glu692Gln)	CFTR (E692Q)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231843	NM_000492.4(CFTR):c.1998A>T (p.Leu666Phe)	CFTR (L666F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231842	NM_000492.4(CFTR):c.1982T>C (p.Ile661Thr)	CFTR (I661T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231841	NM_000492.4(CFTR):c.1954C>G (p.Gln652Glu)	CFTR (Q652E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231840	NM_000492.4(CFTR):c.1930C>G (p.Leu644Val)	CFTR (L644V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231838	NM_000492.4(CFTR):c.1927A>G (p.Lys643Glu)	CFTR (K643E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231837	NM_000492.4(CFTR):c.1847T>C (p.Ile616Thr)	CFTR (I616T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231836	NM_000492.4(CFTR):c.1820T>C (p.Met607Thr)	CFTR (M607T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance

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