ClinVar for MedGen (Select 41393) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 4439

<< First< Prev

Page of 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064856	NM_000492.4(CFTR):c.4102delinsTGCTTGA (p.Leu1368delinsCysLeuMet)	CFTR	Indel (inframe_indel)	Cystic fibrosis	GLikely pathogenic
Select item 3064503	NM_000492.4(CFTR):c.3293G>C (p.Trp1098Ser)	CFTR, LOC111674472 (W1098S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 3063777	NC_000007.13:g.(?_117120078)_(117308720_?)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 3063610	NC_000007.13:g.(117243837_117246727)_(117254768_117267575)dup	CFTR	Duplication	Cystic fibrosis	GPathogenic
Select item 3023512	NM_000492.4(CFTR):c.1679+19G>A	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3022204	NM_000492.4(CFTR):c.1576C>T (p.Leu526=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3021826	NM_000492.4(CFTR):c.2619+12C>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3021388	NM_000492.4(CFTR):c.4304G>A (p.Ser1435Asn)	CFTR, LOC111674477 (S1435N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3020652	NM_000492.4(CFTR):c.1392+19A>T	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3020008	NM_000492.4(CFTR):c.2916T>C (p.Ile972=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3019253	NM_000492.4(CFTR):c.330C>G (p.Asp110Glu)	CFTR (D110E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 3018982	NM_000492.4(CFTR):c.2715G>A (p.Val905=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3016986	NM_000492.4(CFTR):c.135T>A (p.Ser45=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3016828	NM_000492.4(CFTR):c.2354G>C (p.Arg785Pro)	CFTR (R785P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3016535	NM_000492.4(CFTR):c.585T>C (p.Leu195=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3015894	NM_000492.4(CFTR):c.3045C>T (p.Ile1015=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3014826	NM_000492.4(CFTR):c.3855C>G (p.Ala1285=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3014598	NM_000492.4(CFTR):c.3615C>G (p.Pro1205=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3014427	NM_000492.4(CFTR):c.3042C>T (p.Tyr1014=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3014031	NM_000492.4(CFTR):c.2124A>T (p.Ile708=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3013448	NM_000492.4(CFTR):c.1863A>G (p.Glu621=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3012761	NM_000492.4(CFTR):c.603G>A (p.Val201=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3012633	NM_000492.4(CFTR):c.2490+18G>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3009005	NM_000492.4(CFTR):c.1222T>C (p.Leu408=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3007451	NM_000492.4(CFTR):c.2619+19A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3006833	NM_000492.4(CFTR):c.1032T>C (p.Ile344=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3006676	NM_000492.4(CFTR):c.3567A>G (p.Lys1189=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3003602	NM_000492.4(CFTR):c.870-13T>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3002070	NM_000492.4(CFTR):c.3717+13C>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2997815	NM_000492.4(CFTR):c.2637T>C (p.Val879=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2997235	NM_000492.4(CFTR):c.1117-15C>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2994191	NM_000492.4(CFTR):c.53+12G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2990802	NM_000492.4(CFTR):c.274-18G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2989074	NM_000492.4(CFTR):c.2619+8T>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2988284	NM_000492.4(CFTR):c.1210G>A (p.Gly404Arg)	CFTR, CFTR-AS1 (G404R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2983218	NM_000492.4(CFTR):c.2139T>A (p.Ile713=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2981975	NM_000492.4(CFTR):c.2988+16T>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2980630	NM_000492.4(CFTR):c.743+16C>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2980476	NM_000492.4(CFTR):c.2619+20_2619+24del	CFTR	Deletion (intron variant)	Cystic fibrosis	GLikely benign
Select item 2980432	NM_000492.4(CFTR):c.1308T>G (p.Leu436=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2976552	NM_000492.4(CFTR):c.2922T>C (p.Asn974=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2974623	NM_000492.4(CFTR):c.1362G>A (p.Leu454=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2971258	NM_000492.4(CFTR):c.499C>T (p.Leu167=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2968095	NM_000492.4(CFTR):c.3873+18G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2967154	NM_000492.4(CFTR):c.3003G>A (p.Val1001=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2965454	NM_000492.4(CFTR):c.1117-9T>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2963014	NM_000492.4(CFTR):c.2619+16T>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2959961	NM_000492.4(CFTR):c.894G>A (p.Lys298=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2956985	NM_000492.4(CFTR):c.2373A>C (p.Thr791=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2956428	NM_000492.4(CFTR):c.3873+20C>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2955255	NM_000492.4(CFTR):c.743+11A>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2954648	NM_000492.4(CFTR):c.165-12A>C	LOC113664106, CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2954645	NM_000492.4(CFTR):c.273+16G>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2920580	NM_000492.4(CFTR):c.1584+15G>T	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2920043	NM_000492.4(CFTR):c.870-12T>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2919850	NM_000492.4(CFTR):c.3226A>G (p.Thr1076Ala)	CFTR, LOC111674472 (T1076A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2919609	NM_000492.4(CFTR):c.164+18G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2918673	NM_000492.4(CFTR):c.419C>G (p.Pro140Arg)	CFTR (P140R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2918512	NM_000492.4(CFTR):c.4243-15C>A	CFTR, LOC111674477	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2918502	NM_000492.4(CFTR):c.1116+15T>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2918326	NM_000492.4(CFTR):c.4026G>T (p.Gly1342=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2917910	NM_000492.4(CFTR):c.1392+7C>T	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2916658	NM_000492.4(CFTR):c.147A>C (p.Leu49=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2916577	NM_000492.4(CFTR):c.3141C>G (p.Gly1047=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2916293	NM_000492.4(CFTR):c.4243-15C>T	CFTR, LOC111674477	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2915068	NM_000492.4(CFTR):c.3340G>C (p.Val1114Leu)	CFTR, LOC111674472 (V1114L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2914224	NM_000492.4(CFTR):c.2908+13del	CFTR	Deletion (intron variant)	Cystic fibrosis	GLikely benign
Select item 2913965	NM_000492.4(CFTR):c.164+16T>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2913712	NM_000492.4(CFTR):c.13C>T (p.Pro5Ser)	CFTR (P5S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 2913524	NM_000492.4(CFTR):c.2529G>A (p.Val843=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2913089	NM_000492.4(CFTR):c.2620-14T>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2913023	NM_000492.4(CFTR):c.3744A>G (p.Ser1248=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2912108	NM_000492.4(CFTR):c.684T>C (p.Gly228=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2911715	NM_000492.4(CFTR):c.3139+17G>A	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2911102	NM_000492.4(CFTR):c.4328C>G (p.Pro1443Arg)	CFTR, LOC111674477 (P1443R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2907989	NM_000492.4(CFTR):c.2380G>C (p.Val794Leu)	CFTR (V794L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2907339	NM_000492.4(CFTR):c.189A>G (p.Ser63=)	CFTR, LOC113664106	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2904497	NM_000492.4(CFTR):c.274-12C>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2904283	NM_000492.4(CFTR):c.1619T>C (p.Val540Ala)	CFTR, LOC111674475 (V540A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2902931	NM_000492.4(CFTR):c.1420G>C (p.Glu474Gln)	CFTR, CFTR-AS1 (E474Q)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2901228	NM_000492.4(CFTR):c.4083C>T (p.Leu1361=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2900013	NM_000492.4(CFTR):c.498G>A (p.Lys166=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2899858	NM_000492.4(CFTR):c.3765A>G (p.Ser1255=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2898289	NM_000492.4(CFTR):c.2988+20G>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2897705	NM_000492.4(CFTR):c.1941T>C (p.Cys647=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2897465	NM_000492.4(CFTR):c.3965T>A (p.Val1322Asp)	CFTR (V1322D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2896623	NM_000492.4(CFTR):c.3718-18A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2895919	NM_000492.4(CFTR):c.2619+14A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2894935	NM_000492.4(CFTR):c.1585-5A>C	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2894643	NM_000492.4(CFTR):c.3717+11A>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2893295	NM_000492.4(CFTR):c.870-1111A>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2892500	NM_000492.4(CFTR):c.1117-12T>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2891857	NM_000492.4(CFTR):c.2154C>T (p.Pro718=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2890347	NM_000492.4(CFTR):c.1767-19A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2890343	NM_000492.4(CFTR):c.1539T>C (p.Asp513=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2889321	NM_000492.4(CFTR):c.600C>A (p.Phe200Leu)	CFTR (F200L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2888793	NM_000492.4(CFTR):c.2989-3C>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 2888510	NM_000492.4(CFTR):c.3213G>A (p.Gln1071=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2887037	NM_000492.4(CFTR):c.490-14C>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2886850	NM_000492.4(CFTR):c.839C>G (p.Ala280Gly)	CFTR (A280G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance

<< First< Prev

Page of 45