About EGL Genetics

EmVClass

EGL's Variant Classification Catalog

Please enter the official gene symbol and click Search to see all the variants that have been seen and analyzed by EGL Genetics for that gene.

EGL Genetics classification definitions may be reviewed here.

You may submit a question regarding a variant by clicking the appropriate button on the returned data table.

You may prompt a review of a variant of unknown signifigance (VOUS) reviewed greater than six months ago by clicking the appropriate button on the returned data table.

If a reported variant has changed classification, you may request an amended report by clicking here.

You searched for: CFTR

Pathogenic: 120 Likely Pathogenic: 15 VOUS: 319 Likely Benign: 15 Benign: 38

Total records returned: 510

You may further refine your search by entering exon,
change nomenclature, or classification terms here

Order	Gene	Exon	Nucleotide Change	Protein Change	Alias Listing	Classification	Last Reviewed
1	CFTR	Ex1	NM_000492.3:c.-2C>G		LRG_663t1:c.-2C>G, NM_000492.3:c.-2C>G	VOUS	06/28/2019
2	CFTR	Ex1	NM_000492.3:c.-4G>C		LRG_663t1:c.-4G>C, NM_000492.3:c.-4G>C	Likely benign	05/18/2015
3	CFTR	Ex1	NM_000492.3:c.-8G>C		LRG_663t1:c.-8G>C, NM_000492.3:c.-8G>C	Benign	07/06/2017
4	CFTR	Ex1	NM_000492.3:c.10T>C	p.Ser4Pro \| p.S4P	LRG_663t1:c.10T>C, NM_000492.3:c.10T>C	VOUS	03/05/2019
5	CFTR	Ex1	NM_000492.3:c.14C>T	p.Pro5Leu \| p.P5L	LRG_663t1:c.14C>T, NM_000492.3:c.14C>T	Likely pathogenic	11/20/2017
6	CFTR	Ex1	NM_000492.3:c.19G>T	p.Glu7* \| p.E7X	LRG_663t1:c.19G>T, NM_000492.3:c.19G>T	Pathogenic	05/16/2016
7	CFTR	Ex1	NM_000492.3:c.40A>G	p.Lys14Glu \| p.K14E	LRG_663t1:c.40A>G, NM_000492.3:c.40A>G	VOUS	12/28/2017
8	CFTR	Ex1	NM_000492.3:c.49_50dupTT	p.Trp19Alafs*7 \| p.W19AfsX7	LRG_663t1:c.49_50dupTT, NM_000492.3:c.49_50dupTT	Pathogenic	04/27/2018
9	CFTR	Ex1	NM_000492.3:c.50T>G	p.Phe17Cys \| p.F17C	LRG_663t1:c.50T>G, NM_000492.3:c.50T>G	VOUS	12/03/2019
10	CFTR	Ex1	NM_000492.3:c.53+9G>T			VOUS	10/03/2019
11	CFTR	Ex1	NM_000492.3:c.53+45A>G		LRG_663t1:c.53+45A>G, NM_000492.3:c.53+45A>G	VOUS	**
12	CFTR	Ex1	NM_000492.3:c.-132-680T>G		LRG_663t1:c.-812T>G, NM_000492.3:c.-812T>G	Likely benign	01/18/2017
13	CFTR	Ex1	NM_000492.3:c.-132-329A>G		LRG_663t1:c.-461A>G, NM_000492.3:c.-461A>G	VOUS	12/09/2019
14	CFTR	Ex1	NM_000492.3:c.-132-316A>G		LRG_663t1:c.-448A>G, NM_000492.3:c.-448A>G	VOUS	05/24/2019
15	CFTR	Ex1	NM_000492.3:c.-132-156G>C		LRG_663t1:c.-288G>C, NM_000492.3:c.-288G>C	Likely benign	03/20/2017
16	CFTR	Ex1	NM_000492.3:c.-132-156G>A			VOUS	10/04/2019
17	CFTR	Ex1	NM_000492.3:c.-132-94G>T		LRG_663t1:c.-226G>T, NM_000492.3:c.-226G>T	VOUS	07/22/2019
18	CFTR	Ex1	NM_000492.3:c.-132-33G>A		LRG_663t1:c.-165G>A, NM_000492.3:c.-165G>A	VOUS	04/19/2018
19	CFTR	Ex1	NM_000492.3:c.-132-20G>C		LRG_663t1:c.-152G>C, NM_000492.3:c.-152G>C	VOUS	03/14/2019
20	CFTR	Ex1	NM_000492.3:c.-132T>G		LRG_663t1:c.-132T>G, NM_000492.3:c.-132T>G	VOUS	01/09/2017
21	CFTR	Ex2	NM_000492.3:c.91C>T	p.Arg31Cys \| p.R31C	LRG_663t1:c.91C>T, NM_000492.3:c.91C>T	VOUS	11/06/2019
22	CFTR	Ex2	NM_000492.3:c.92G>T	p.Arg31Leu \| p.R31L	LRG_663t1:c.92G>T, NM_000492.3:c.92G>T	VOUS	06/07/2018
23	CFTR	Ex2	NM_000492.3:c.94C>A	p.Leu32Met \| p.L32M	LRG_663t1:c.94C>A, NM_000492.3:c.94C>A	VOUS	06/15/2017
24	CFTR	Ex2	NM_000492.3:c.109A>G	p.Ile37Val \| p.I37V	LRG_663t1:c.109A>G, NM_000492.3:c.109A>G	VOUS	03/15/2018
25	CFTR	Ex2	NM_000492.3:c.117A>C	p.Gln39His \| p.Q39H	LRG_663t1:c.117A>C, NM_000492.3:c.117A>C	VOUS	02/12/2020
26	CFTR	Ex2	NM_000492.3:c.125C>T	p.Ser42Phe \| p.S42F	LRG_663t1:c.125C>T, NM_000492.3:c.125C>T	VOUS	06/29/2018
27	CFTR	Ex2	NM_000492.3:c.137C>T	p.Ala46Val \| p.A46V	LRG_663t1:c.137C>T, NM_000492.3:c.137C>T	VOUS	09/04/2018
28	CFTR	Ex2	NM_000492.3:c.164+9A>G		LRG_663t1:c.164+9A>G, NM_000492.3:c.164+9A>G	VOUS	12/26/2018
29	CFTR	Ex2	NM_000492.3:c.164+10delTinsATGA		LRG_663t1:c.164+10delinsATGA, NM_000492.3:c.164+10delinsATGA	VOUS	**
30	CFTR	Ex2	NM_000492.3:c.164+12T>C		LRG_663t1:c.164+12T>C, NM_000492.3:c.164+12T>C	VOUS	10/26/2018
31	CFTR	Ex2	NM_000492.3:c.164+28A>G		LRG_663t1:c.164+28A>G, NM_000492.3:c.164+28A>G	Benign	11/20/2018
32	CFTR	Ex3	NM_000492.3:c.165-3C>T		LRG_663t1:c.165-3C>T, NM_000492.3:c.165-3C>T	Pathogenic	12/31/2018
33	CFTR	Ex3	NM_000492.3:c.165-1G>A		LRG_663t1:c.165-1G>A, NM_000492.3:c.165-1G>A	Pathogenic	01/19/2016
34	CFTR	Ex3	NM_000492.3:c.180G>C	p.Glu60Asp \| p.E60D	LRG_663t1:c.180G>C, NM_000492.3:c.180G>C	VOUS	01/11/2018
35	CFTR	Ex3	NM_000492.3:c.181C>T	p.Leu61= \| p.L61=	LRG_663t1:c.181C>T, NM_000492.3:c.181C>T	VOUS	12/11/2018
36	CFTR	Ex3	NM_000492.3:c.200C>T	p.Pro67Leu \| p.P67L	LRG_663t1:c.200C>T	Pathogenic	01/13/2020
37	CFTR	Ex3	NM_000492.3:c.202A>G	p.Lys68Glu \| p.K68E	LRG_663t1:c.202A>G, NM_000492.3:c.202A>G	VOUS	08/21/2018
38	CFTR	Ex3	NM_000492.3:c.204A>T	p.Lys68Asn \| p.K68N	LRG_663t1:c.204A>T, NM_000492.3:c.204A>T	VOUS	10/22/2019
39	CFTR	Ex3	NM_000492.3:c.220C>T	p.Arg74Trp \| p.R74W	LRG_663t1:c.220C>T, NM_000492.3:c.220C>T	Likely pathogenic	11/12/2019
40	CFTR	Ex3	NM_000492.3:c.221G>A	p.Arg74Gln \| p.R74Q	LRG_663t1:c.221G>A, NM_000492.3:c.221G>A	VOUS	12/03/2019
41	CFTR	Ex3	NM_000492.3:c.224G>A	p.Arg75Gln \| p.R75Q	LRG_663t1:c.224G>A, NM_000492.3:c.224G>A	Likely benign	10/20/2017
42	CFTR	Ex3	NM_000492.3:c.226T>A	p.Cys76Ser \| p.C76S	LRG_663t1:c.226T>A, NM_000492.3:c.226T>A	VOUS	09/06/2016
43	CFTR	Ex3	NM_000492.3:c.233dupT	p.Trp79Leufs*32 \| p.W79LfsX32	LRG_663t1:c.233dupT, NM_000492.3:c.233dupT	Pathogenic	10/10/2018
44	CFTR	Ex3	NM_000492.3:c.246G>A	p.Met82Ile \| p.M82I	LRG_663t1:c.246G>A, NM_000492.3:c.246G>A	VOUS	03/22/2019
45	CFTR	Ex3	NM_000492.3:c.250T>C	p.Tyr84His \| p.Y84H	LRG_663t1:c.250T>C, NM_000492.3:c.250T>C	VOUS	01/26/2017
46	CFTR	Ex3	NM_000492.3:c.254G>A	p.Gly85Glu \| p.G85E	LRG_663t1:c.254G>A, NM_000492.3:c.254G>A	Pathogenic	02/07/2017
47	CFTR	Ex3	NM_000492.3:c.256A>G	p.Ile86Val \| p.I86V	LRG_663t1:c.256A>G, NM_000492.3:c.256A>G	VOUS	09/30/2019
48	CFTR	Ex3	NM_000492.3:c.262_263delTT	p.Leu88Ilefs*22 \| p.L88IfsX22	LRG_663t1:c.262_263delTT, NM_000492.3:c.262_263delTT	Pathogenic	**
49	CFTR	Ex4	NM_000492.3:c.274-6T>C		LRG_663t1:c.274-6T>C, NM_000492.3:c.274-6T>C	VOUS	04/19/2019
50	CFTR	Ex4	NM_000492.3:c.274-1G>A		LRG_663t1:c.274-1G>A, NM_000492.3:c.274-1G>A	Pathogenic	06/24/2014
51	CFTR	Ex4	NM_000492.3:c.290T>C	p.Val97Ala \| p.V97A		VOUS	**
52	CFTR	Ex4	NM_000492.3:c.316A>G	p.Ile106Val \| p.I106V	LRG_663t1:c.316A>G, NM_000492.3:c.316A>G	VOUS	10/05/2016
53	CFTR	Ex4	NM_000492.3:c.326A>G	p.Tyr109Cys \| p.Y109C	LRG_663t1:c.326A>G, NM_000492.3:c.326A>G	Likely pathogenic	02/08/2019
54	CFTR	Ex4	NM_000492.3:c.328G>T	p.Asp110Tyr \| p.D110Y	LRG_663t1:c.328G>T, NM_000492.3:c.328G>T	Pathogenic	**
55	CFTR	Ex4	NM_000492.3:c.328G>C	p.Asp110His \| p.D110H	LRG_663t1:c.328G>C, NM_000492.3:c.328G>C	Pathogenic	12/06/2018
56	CFTR	Ex4	NM_000492.3:c.330C>A	p.Asp110Glu \| p.D110E	LRG_663t1:c.330C>A, NM_000492.3:c.330C>A	Pathogenic	05/23/2017
57	CFTR	Ex4	NM_000492.3:c.332C>T	p.Pro111Leu \| p.P111L	LRG_663t1:c.332C>T, NM_000492.3:c.332C>T	VOUS	08/07/2019
58	CFTR	Ex4	NM_000492.3:c.332C>G	p.Pro111Arg \| p.P111R	LRG_663t1:c.332C>G, NM_000492.3:c.332C>G	VOUS	08/02/2016
59	CFTR	Ex4	NM_000492.3:c.335A>G	p.Asp112Gly \| p.D112G	LRG_663t1:c.335A>G, NM_000492.3:c.335A>G	VOUS	11/01/2019
60	CFTR	Ex4	NM_000492.3:c.349C>T	p.Arg117Cys \| p.R117C	LRG_663t1:c.349C>T, NM_000492.3:c.349C>T	Pathogenic	12/06/2017
61	CFTR	Ex4	NM_000492.3:c.350G>A	p.Arg117His \| p.R117H	LRG_663t1:c.350G>A, NM_000492.3:c.350G>A	Pathogenic	01/13/2020
62	CFTR	Ex4	NM_000492.3:c.350G>T	p.Arg117Leu \| p.R117L	LRG_663t1:c.350G>T, NM_000492.3:c.350G>T	Pathogenic	**
63	CFTR	Ex4	NM_000492.3:c.358G>A	p.Ala120Thr \| p.A120T	LRG_663t1:c.358G>A, NM_000492.3:c.358G>A	VOUS	12/03/2019
64	CFTR	Ex4	NM_000492.3:c.360G>A	p.Ala120= \| p.A120=	LRG_663t1:c.360G>A, NM_000492.3:c.360G>A	VOUS	08/22/2019
65	CFTR	Ex4	NM_000492.3:c.374T>C	p.Ile125Thr \| p.I125T	LRG_663t1:c.374T>C, NM_000492.3:c.374T>C	Likely benign	03/13/2017
66	CFTR	Ex4	NM_000492.3:c.377G>T	p.Gly126Val \| p.G126V	LRG_663t1:c.377G>T, NM_000492.3:c.377G>T	VOUS	05/25/2018
67	CFTR	Ex4	NM_000492.3:c.393T>C	p.Phe131= \| p.F131=	LRG_663t1:c.393T>C, NM_000492.3:c.393T>C	VOUS	08/30/2018
68	CFTR	Ex4	NM_000492.3:c.403A>G	p.Thr135Ala \| p.T135A	LRG_663t1:c.403A>G, NM_000492.3:c.403A>G	VOUS	12/13/2017
69	CFTR	Ex4	NM_000492.3:c.416A>C	p.His139Pro \| p.H139P	LRG_663t1:c.416A>C, NM_000492.3:c.416A>C	VOUS	03/30/2018
70	CFTR	Ex4	NM_000492.3:c.418C>T	p.Pro140Ser \| p.P140S	LRG_663t1:c.418C>T, NM_000492.3:c.418C>T	VOUS	01/21/2019
71	CFTR	Ex4	NM_000492.3:c.442delA	p.Ile148Leufs*5 \| p.I148LfsX5	LRG_663t1:c.442delA, NM_000492.3:c.442delA	Pathogenic	09/22/2017
72	CFTR	Ex4	NM_000492.3:c.443T>C	p.Ile148Thr \| p.I148T	LRG_663t1:c.443T>C, NM_000492.3:c.443T>C	Benign	08/06/2012
73	CFTR	Ex4	NM_000492.3:c.443T>A	p.Ile148Asn \| p.I148N	LRG_663t1:c.443T>A, NM_000492.3:c.443T>A	VOUS	02/27/2017
74	CFTR	Ex4	NM_000492.3:c.451C>A	p.Gln151Lys \| p.Q151K	LRG_663t1:c.451C>A, NM_000492.3:c.451C>A	VOUS	07/14/2019
75	CFTR	Ex4	NM_000492.3:c.454A>T	p.Met152Leu \| p.M152L	LRG_663t1:c.454A>T, NM_000492.3:c.454A>T	VOUS	01/09/2019
76	CFTR	Ex4	NM_000492.3:c.473G>C	p.Ser158Thr \| p.S158T	LRG_663t1:c.473G>C, NM_000492.3:c.473G>C	VOUS	02/05/2020
77	CFTR	Ex4	NM_000492.3:c.489+1G>T		621+1G->T, LRG_663t1:c.489+1G>T, NM_000492.3:c.489+1G>T	Pathogenic	11/24/2018
78	CFTR	Ex4	NM_000492.3:c.489+3A>G		LRG_663t1:c.489+3A>G, NM_000492.3:c.489+3A>G	VOUS	10/18/2019
79	CFTR	Ex4	NM_000492.3:c.489+8T>G		LRG_663t1:c.489+8T>G, NM_000492.3:c.489+8T>G	VOUS	02/20/2018
80	CFTR	Ex4	NM_000492.3:c.489+87A>G		LRG_663t1:c.489+87A>G, NM_000492.3:c.489+87A>G	VOUS	02/15/2018
81	CFTR	Ex5	NM_000492.3:c.509G>A	p.Arg170His \| p.R170H	LRG_663t1:c.509G>A, NM_000492.3:c.509G>A	VOUS	08/29/2019
82	CFTR	Ex5	NM_000492.3:c.530T>C	p.Ile177Thr \| p.I177T	LRG_663t1:c.530T>C, NM_000492.3:c.530T>C	VOUS	11/07/2018
83	CFTR	Ex5	NM_000492.3:c.538C>G	p.Leu180Val \| p.L180V	LRG_663t1:c.538C>G, NM_000492.3:c.538C>G	VOUS	04/08/2019
84	CFTR	Ex5	NM_000492.3:c.547C>A	p.Leu183Ile \| p.L183I	LRG_663t1:c.547C>A, NM_000492.3:c.547C>A	VOUS	03/26/2019
85	CFTR	Ex5	NM_000492.3:c.561C>T	p.Asn187= \| p.N187=	LRG_663t1:c.561C>T, NM_000492.3:c.561C>T	VOUS	06/26/2018
86	CFTR	Ex5	NM_000492.3:c.571T>G	p.Phe191Val \| p.F191V	LRG_663t1:c.571T>G, NM_000492.3:c.571T>G	Likely pathogenic	02/06/2020
87	CFTR	Ex5	NM_000492.3:c.577G>T	p.Glu193* \| p.E193X	NM_000492.3:c.577G>T	Pathogenic	08/18/2014
88	CFTR	Ex5	NM_000492.3:c.579+1G>T		LRG_663t1:c.579+1G>T, NM_000492.3:c.579+1G>T	Pathogenic	05/19/2016
89	CFTR	Ex5	NM_000492.3:c.579+4delT			VOUS	**
90	CFTR	Ex6	NM_000492.3:c.581G>T	p.Gly194Val \| p.G194V	LRG_663t1:c.581G>T, NM_000492.3:c.581G>T	VOUS	11/07/2017
91	CFTR	Ex6	NM_000492.3:c.592G>A	p.Ala198Thr \| p.A198T	LRG_663t1:c.592G>A, NM_000492.3:c.592G>A	VOUS	01/27/2017
92	CFTR	Ex6	NM_000492.3:c.592G>C	p.Ala198Pro \| p.A198P	LRG_663t1:c.592G>C, NM_000492.3:c.592G>C	VOUS	03/14/2016
93	CFTR	Ex6	NM_000492.3:c.601G>A	p.Val201Met \| p.V201M	LRG_663t1:c.601G>A, NM_000492.3:c.601G>A	VOUS	01/22/2020
94	CFTR	Ex6	NM_000492.3:c.613C>T	p.Pro205Ser \| p.P205S	LRG_663t1:c.613C>T, NM_000492.3:c.613C>T	Pathogenic	03/12/2019
95	CFTR	Ex6	NM_000492.3:c.617T>G	p.Leu206Trp \| p.L206W	LRG_663t1:c.617T>G, NM_000492.3:c.617T>G	Pathogenic	05/17/2019
96	CFTR	Ex6	NM_000492.3:c.648G>T	p.Trp216Cys \| p.W216C	LRG_663t1:c.648G>T, NM_000492.3:c.648G>T	VOUS	06/12/2018
97	CFTR	Ex6	NM_000492.3:c.650A>G	p.Glu217Gly \| p.E217G	LRG_663t1:c.650A>G, NM_000492.3:c.650A>G	VOUS	07/10/2018
98	CFTR	Ex6	NM_000492.3:c.663G>A	p.Ala221= \| p.A221=	LRG_663t1:c.663G>A, NM_000492.3:c.663G>A	VOUS	08/25/2016
99	CFTR	Ex6	NM_000492.3:c.688C>T	p.Leu230= \| p.L230=	LRG_663t1:c.688C>T, NM_000492.3:c.688C>T	VOUS	04/17/2018
100	CFTR	Ex6	NM_000492.3:c.695T>A	p.Val232Asp \| p.V232D	LRG_663t1:c.695T>A, NM_000492.3:c.695T>A	Pathogenic	04/04/2018
101	CFTR	Ex6	NM_000492.3:c.708delT			Pathogenic	**
102	CFTR	Ex6	NM_000492.3:c.709C>G	p.Gln237Glu \| p.Q237E	LRG_663t1:c.709C>G, NM_000492.3:c.709C>G	Likely pathogenic	01/08/2019
103	CFTR	Ex6	NM_000492.3:c.710A>T	p.Gln237Leu \| p.Q237L	LRG_663t1:c.710A>T, NM_000492.3:c.710A>T	VOUS	01/08/2019
104	CFTR	Ex6	NM_000492.3:c.710A>G	p.Gln237Arg \| p.Q237R	LRG_663t1:c.710A>G, NM_000492.3:c.710A>G	VOUS	01/08/2019
105	CFTR	Ex6	NM_000492.3:c.711G>C	p.Gln237His \| p.Q237H	LRG_663t1:c.711G>C, NM_000492.3:c.711G>C	VOUS	01/08/2019
106	CFTR	Ex6	NM_000492.3:c.711G>T	p.Gln237His \| p.Q237H	LRG_663t1:c.711G>T, NM_000492.3:c.711G>T	VOUS	12/28/2018
107	CFTR	Ex6	NM_000492.3:c.715G>A	p.Gly239Arg \| p.G239R	LRG_663t1:c.715G>A, NM_000492.3:c.715G>A	VOUS	10/04/2019
108	CFTR	Ex6	NM_000492.3:c.738G>A	p.Lys246= \| p.K246=	LRG_663t1:c.738G>A, NM_000492.3:c.738G>A	Likely benign	12/07/2016
109	CFTR	Ex6	NM_000492.3:c.743+1G>A		LRG_663t1:c.743+1G>A, NM_000492.3:c.743+1G>A	Pathogenic	07/06/2016
110	CFTR	Ex6	NM_000492.3:c.743+40A>G		NM_000492.3:c.743+40A>G	Benign	**
111	CFTR	Ex7	NM_000492.3:c.744-33GATT(6_9)			Benign	11/20/2018
112	CFTR	Ex7	NM_000492.3:c.744-9_744-6dupGATT		LRG_663t1:c.744-9_744-6dupGATT, NM_000492.3:c.744-9_744-6dupGATT	Benign	06/23/2017
113	CFTR	Ex7	NM_000492.3:c.772A>G	p.Arg258Gly \| p.R258G	LRG_663t1:c.772A>G, NM_000492.3:c.772A>G	VOUS	10/02/2019
114	CFTR	Ex7	NM_000492.3:c.794T>G	p.Met265Arg \| p.M265R	LRG_663t1:c.794T>G, NM_000492.3:c.794T>G	VOUS	02/11/2019
115	CFTR	Ex7	NM_000492.3:c.803delA	p.Asn268Ilefs*17 \| p.N268IfsX17	LRG_663t1:c.803delA, NM_000492.3:c.803delA	Pathogenic	07/25/2019
116	CFTR	Ex7	NM_000492.3:c.806T>C	p.Ile269Thr \| p.I269T	LRG_663t1:c.806T>C, NM_000492.3:c.806T>C	VOUS	08/22/2017
117	CFTR	Ex7	NM_000492.3:c.837A>T	p.Glu279Asp \| p.E279D	LRG_663t1:c.837A>T, NM_000492.3:c.837A>T	VOUS	03/27/2017
118	CFTR	Ex7	NM_000492.3:c.842T>C	p.Met281Thr \| p.M281T	LRG_663t1:c.842T>C, NM_000492.3:c.842T>C	VOUS	08/19/2019
119	CFTR	Ex7	NM_000492.3:c.846A>T	p.Glu282Asp \| p.E282D	LRG_663t1:c.846A>T, NM_000492.3:c.846A>T	VOUS	12/13/2019
120	CFTR	Ex7	NM_000492.3:c.848_860delAAATGATTGAAAAinsTG		NM_000492.3:c.848_860delinsTG	Pathogenic	10/27/2014
121	CFTR	Ex7	NM_000492.3:c.850dupA		LRG_663t1:c.850_851insA, NM_000492.3:c.850_851insA	Pathogenic	03/28/2016
122	CFTR	Ex7	NM_000492.3:c.853A>T	p.Ile285Phe \| p.I285F	LRG_663t1:c.853A>T, NM_000492.3:c.853A>T	Likely benign	06/23/2017
123	CFTR	Ex7	NM_000492.3:c.861C>G	p.Asn287Lys \| p.N287K	LRG_663t1:c.861C>G, NM_000492.3:c.861C>G	VOUS	09/25/2018
124	CFTR	Ex7	NM_000492.3:c.869+1G>C		LRG_663t1:c.869+1G>C, NM_000492.3:c.869+1G>C	Pathogenic	06/14/2018
125	CFTR	Ex7	NM_000492.3:c.869+11C>T		LRG_663t1:c.869+11C>T, NM_000492.3:c.869+11C>T	Benign	05/19/2016
126	CFTR	Ex7	NM_000492.3:c.869+40A>G		NM_000492.3:c.869+40A>G	Benign	**
127	CFTR	Ex8	NM_000492.3:c.870-7_870-5delTTT		LRG_663t1:c.870-7_870-5delTTT, NM_000492.3:c.870-7_870-5delTTT	Likely benign	05/30/2017
128	CFTR	Ex8	NM_000492.3:c.889C>T	p.Arg297Trp \| p.R297W	LRG_663t1:c.889C>T, NM_000492.3:c.889C>T	VOUS	03/29/2019
129	CFTR	Ex8	NM_000492.3:c.890G>A	p.Arg297Gln \| p.R297Q	LRG_663t1:c.890G>A, NM_000492.3:c.890G>A	Likely benign	09/26/2014
130	CFTR	Ex8	NM_000492.3:c.902A>G	p.Tyr301Cys \| p.Y301C	LRG_663t1:c.902A>G, NM_000492.3:c.902A>G	VOUS	09/03/2019
131	CFTR	Ex8	NM_000492.3:c.925G>T	p.Ala309Ser \| p.A309S	LRG_663t1:c.925G>T, NM_000492.3:c.925G>T	VOUS	02/07/2019
132	CFTR	Ex8	NM_000492.3:c.926C>G	p.Ala309Gly \| p.A309G	LRG_663t1:c.926C>G, NM_000492.3:c.926C>G	VOUS	11/14/2017
133	CFTR	Ex8	NM_000492.3:c.935_937delTCT	p.Phe312del \| p.F312del	LRG_663t1:c.935_937delTCT, NM_000492.3:c.935_937delTCT	Pathogenic	11/19/2013
134	CFTR	Ex8	NM_000492.3:c.944T>C	p.Phe315Ser \| p.F315S	LRG_663t1:c.944T>C, NM_000492.3:c.944T>C	VOUS	09/15/2017
135	CFTR	Ex8	NM_000492.3:c.948delT	p.Phe316Leufs*12 \| p.F316LfsX12	LRG_663t1:c.948delT, NM_000492.3:c.948delT	Pathogenic	08/15/2017
136	CFTR	Ex8	NM_000492.3:c.948T>G	p.Phe316Leu \| p.F316L	LRG_663t1:c.948T>G, NM_000492.3:c.948T>G	VOUS	11/09/2017
137	CFTR	Ex8	NM_000492.3:c.958T>G	p.Leu320Val \| p.L320V	LRG_663t1:c.958T>G, NM_000492.3:c.958T>G	VOUS	01/16/2020
138	CFTR	Ex8	NM_000492.3:c.960A>G	p.Leu320= \| p.L320=	LRG_663t1:c.960A>G, NM_000492.3:c.960A>G	VOUS	06/18/2019
139	CFTR	Ex8	NM_000492.3:c.974A>G	p.Tyr325Cys \| p.Y325C	LRG_663t1:c.974A>G, NM_000492.3:c.974A>G	VOUS	09/13/2018
140	CFTR	Ex8	NM_000492.3:c.1000C>T	p.Arg334Trp \| p.R334W	LRG_663t1:c.1000C>T, NM_000492.3:c.1000C>T	Pathogenic	**
141	CFTR	Ex8	NM_000492.3:c.1001G>A	p.Arg334Gln \| p.R334Q	LRG_663t1:c.1001G>A, NM_000492.3:c.1001G>A	VOUS	12/24/2018
142	CFTR	Ex8	NM_000492.3:c.1007T>A	p.Ile336Lys \| p.I336K	LRG_663t1:c.1007T>A, NM_000492.3:c.1007T>A	Pathogenic	03/15/2017
143	CFTR	Ex8	NM_000492.3:c.1021T>C	p.Ser341Pro \| p.S341P	LRG_663t1:c.1021T>C, NM_000492.3:c.1021T>C	Pathogenic	10/10/2016
144	CFTR	Ex8	NM_000492.3:c.1022_1023insTC		1157InsTC, NM_000492.3:c.1022_1023insTC	Pathogenic	07/10/2014
145	CFTR	Ex8	NM_000492.3:c.1039C>T	p.Arg347Cys \| p.R347C	LRG_663t1:c.1039C>T, NM_000492.3:c.1039C>T	VOUS	09/27/2017
146	CFTR	Ex8	NM_000492.3:c.1040G>C	p.Arg347Pro \| p.R347P	LRG_663t1:c.1040G>C, NM_000492.3:c.1040G>C	Pathogenic	10/17/2018
147	CFTR	Ex8	NM_000492.3:c.1043T>A	p.Met348Lys \| p.M348K	LRG_663t1:c.1043T>A, NM_000492.3:c.1043T>A	VOUS	09/16/2016
148	CFTR	Ex8	NM_000492.3:c.1046C>T	p.Ala349Val \| p.A349V	LRG_663t1:c.1046C>T, NM_000492.3:c.1046C>T	VOUS	11/12/2019
149	CFTR	Ex8	NM_000492.3:c.1047G>A	p.Ala349= \| p.A349=	LRG_663t1:c.1047G>A, NM_000492.3:c.1047G>A	VOUS	12/15/2017
150	CFTR	Ex8	NM_000492.3:c.1052C>G	p.Thr351Ser \| p.T351S	LRG_663t1:c.1052C>G, NM_000492.3:c.1052C>G	VOUS	11/05/2019
151	CFTR	Ex8	NM_000492.3:c.1054C>T	p.Arg352Trp \| p.R352W	LRG_663t1:c.1054C>T, NM_000492.3:c.1054C>T	VOUS	05/31/2019
152	CFTR	Ex8	NM_000492.3:c.1055G>A	p.Arg352Gln \| p.R352Q	LRG_663t1:c.1055G>A, NM_000492.3:c.1055G>A	Pathogenic	**
153	CFTR	Ex8	NM_000492.3:c.1066_1072delTGGGCTGinsA		NM_000492.3:c.1066_1072delinsA	VOUS	05/29/2015
154	CFTR	Ex8	NM_000492.3:c.1083delG	p.Trp361Cysfs*8 \| p.W361CfsX8	LRG_663t1:c.1083delG, NM_000492.3:c.1083delG	Pathogenic	04/18/2017
155	CFTR	Ex8	NM_000492.3:c.1116+6G>C		LRG_663t1:c.1116+6G>C, NM_000492.3:c.1116+6G>C	VOUS	03/21/2017
156	CFTR	Ex9	NM_000492.3:c.1118A>T	p.Asp373Val \| p.D373V	LRG_663t1:c.1118A>T, NM_000492.3:c.1118A>T	VOUS	08/21/2019
157	CFTR	Ex9	NM_000492.3:c.1125A>C	p.Leu375Phe \| p.L375F	LRG_663t1:c.1125A>C, NM_000492.3:c.1125A>C	Likely pathogenic	09/18/2019
158	CFTR	Ex9	NM_000492.3:c.1149G>A	p.Leu383= \| p.L383=	LRG_663t1:c.1149G>A, NM_000492.3:c.1149G>A	VOUS	10/09/2017
159	CFTR	Ex9	NM_000492.3:c.1163C>T	p.Thr388Met \| p.T388M	LRG_663t1:c.1163C>T, NM_000492.3:c.1163C>T	VOUS	07/24/2019
160	CFTR	Ex9	NM_000492.3:c.1164G>A	p.Thr388= \| p.T388=	LRG_663t1:c.1164G>A, NM_000492.3:c.1164G>A	VOUS	05/19/2017
161	CFTR	Ex10	NM_000492.3:c.1210-32T>G		LRG_663t1:c.1210-32T>G, NM_000492.3:c.1210-32T>G	VOUS	09/23/2016
162	CFTR	Ex10	NM_000492.3:c.1210-15G>T		LRG_663t1:c.1210-15G>T, NM_000492.3:c.1210-15G>T	VOUS	06/26/2017
163	CFTR	Ex10	NM_000492.3:c.1210-14_1210-13insTG		LRG_663t1:c.1210-14_1210-13insTG, NM_000492.3:c.1210-14_1210-13insTG	Benign	07/02/2014
164	CFTR	Ex10	NM_000492.3:c.1210-13G>T		NM_000492.3:c.1210-13G>T	Benign	01/31/2014
165	CFTR	Ex10	NM_000492.3:c.1210-13GT(10_12)			Benign	**
166	CFTR	Ex10	NM_000492.3:c.1210-13_1210-10delGTTT		LRG_663t1:c.1210-13_1210-10delGTTT, NM_000492.3:c.1210-13_1210-10delGTTT	VOUS	09/23/2016
167	CFTR	Ex10	NM_000492.3:c.1210-12T(5_9)			Other Reportable	02/19/2020
168	CFTR	Ex10	NM_000492.3:c.1210-11T>G		LRG_663t1:c.1210-11T>G, NM_000492.3:c.1210-11T>G	Other Reportable	05/19/2016
169	CFTR	Ex10	NM_000492.3:c.1210-7_1210-6dupTT		LRG_663t1:c.1210-7_1210-6dupTT, NM_000492.3:c.1210-6_1210-5insTT, NM_000492.3:c.1210-7_1210-6dupTT	Benign	09/29/2014
170	CFTR	Ex10	NM_000492.3:c.1210-7_1210-6delTT		LRG_663t1:c.1210-7_1210-6delTT, NM_000492.3:c.1210-7_1210-6delTT	Other Reportable	05/06/2019
171	CFTR	Ex10	NM_000492.3:c.1210-2_1210-1delAG		LRG_663t1:c.1210-2_1210-1delAG, NM_000492.3:c.1210-2_1210-1delAG	Pathogenic	10/04/2019
172	CFTR	Ex10	NM_000492.3:c.1227T>C	p.Phe409= \| p.F409=	LRG_663t1:c.1227T>C, NM_000492.3:c.1227T>C	VOUS	03/29/2019
173	CFTR	Ex10	NM_000492.3:c.1231A>G	p.Lys411Glu \| p.K411E	LRG_663t1:c.1231A>G, NM_000492.3:c.1231A>G	VOUS	04/19/2019
174	CFTR	Ex10	NM_000492.3:c.1234_1238delGCAAA	p.Ala412Thrfs*4 \| p.A412TfsX4	LRG_663t1:c.1234_1238delGCAAA, NM_000492.3:c.1234_1238delGCAAA	Pathogenic	09/22/2016
175	CFTR	Ex10	NM_000492.3:c.1251C>A	p.Asn417Lys \| p.N417K	LRG_663t1:c.1251C>A, NM_000492.3:c.1251C>A	Benign	03/21/2015
176	CFTR	Ex10	NM_000492.3:c.1254T>C	p.Asn418= \| p.N418=	NM_000492.3:c.1254T>C	Benign	08/19/2014
177	CFTR	Ex10	NM_000492.3:c.1270G>A	p.Gly424Ser \| p.G424S	LRG_663t1:c.1270G>A, NM_000492.3:c.1270G>A	VOUS	04/18/2019
178	CFTR	Ex10	NM_000492.3:c.1301_1307delCACTTCT			Pathogenic	**
179	CFTR	Ex10	NM_000492.3:c.1312A>G	p.Thr438Ala \| p.T438A	LRG_663t1:c.1312A>G, NM_000492.3:c.1312A>G	VOUS	08/31/2018
180	CFTR	Ex10	NM_000492.3:c.1327G>T	p.Asp443Tyr \| p.D443Y	LRG_663t1:c.1327G>T, NM_000492.3:c.1327G>T	Pathogenic	12/05/2018
181	CFTR	Ex10	NM_000492.3:c.1327_1330dupGATA	p.Ile444Argfs*3 \| p.I444RfsX3	LRG_663t1:c.1327_1330dupGATA, NM_000492.3:c.1327_1330dupGATA	Pathogenic	11/08/2019
182	CFTR	Ex10	NM_000492.3:c.1331T>C	p.Ile444Thr \| p.I444T	LRG_663t1:c.1331T>C, NM_000492.3:c.1331T>C	VOUS	12/21/2017
183	CFTR	Ex10	NM_000492.3:c.1340delA		NM_000492.3:c.1340delA	Pathogenic	**
184	CFTR	Ex10	NM_000492.3:c.1343T>A	p.Ile448Lys \| p.I448K		VOUS	**
185	CFTR	Ex10	NM_000492.3:c.1360_1362delTTG		LRG_663t1:c.1360_1362delTTG, NM_000492.3:c.1360_1362delTTG	Likely benign	01/11/2017
186	CFTR	Ex10	NM_000492.3:c.1364C>A	p.Ala455Glu \| p.A455E	LRG_663t1:c.1364C>A, NM_000492.3:c.1364C>A	Pathogenic	**
187	CFTR	Ex10	NM_000492.3:c.1364C>T	p.Ala455Val \| p.A455V	LRG_663t1:c.1364C>T, NM_000492.3:c.1364C>T	VOUS	06/13/2019
188	CFTR	Ex10	NM_000492.3:c.1365G>A	p.Ala455= \| p.A455=	LRG_663t1:c.1365G>A, NM_000492.3:c.1365G>A	VOUS	08/02/2019
189	CFTR	Ex10	NM_000492.3:c.1365G>T	p.Ala455= \| p.A455=	LRG_663t1:c.1365G>T, NM_000492.3:c.1365G>T	VOUS	01/12/2016
190	CFTR	Ex10	NM_000492.3:c.1367T>C	p.Val456Ala \| p.V456A	LRG_663t1:c.1367T>C, NM_000492.3:c.1367T>C	Pathogenic	07/26/2019
191	CFTR	Ex11	NM_000492.3:c.1393-42G>A		LRG_663t1:c.1393-42G>A, NM_000492.3:c.1393-42G>A	Benign	01/19/2017
192	CFTR	Ex11	NM_000492.3:c.1397C>G	p.Ser466* \| p.S466X	LRG_663t1:c.1397C>G, NM_000492.3:c.1397C>G	Pathogenic	02/24/2017
193	CFTR	Ex11	NM_000492.3:c.1400T>C	p.Leu467Pro \| p.L467P	LRG_663t1:c.1400T>C, NM_000492.3:c.1400T>C	Pathogenic	04/24/2017
194	CFTR	Ex11	NM_000492.3:c.1408A>G	p.Met470Val \| p.M470V	LRG_663t1:c.1408A>G, NM_000492.3:c.1408A>G	Benign	01/06/2020
195	CFTR	Ex11	NM_000492.3:c.1408G>A	p.Val470Met \| p.V470M	LRG_663t1:c.1408G>A, NM_000492.3:c.1408G>A	Benign	01/06/2020
196	CFTR	Ex11	NM_000492.3:c.1414A>G	p.Met472Val \| p.M472V	LRG_663t1:c.1414A>G, NM_000492.3:c.1414A>G	VOUS	11/05/2019
197	CFTR	Ex11	NM_000492.3:c.1430C>A	p.Pro477His \| p.P477H	LRG_663t1:c.1430C>A, NM_000492.3:c.1430C>A	VOUS	07/28/2016
198	CFTR	Ex11	NM_000492.3:c.1436A>C	p.Glu479Ala \| p.E479A	LRG_663t1:c.1436A>C, NM_000492.3:c.1436A>C	VOUS	04/07/2016
199	CFTR	Ex11	NM_000492.3:c.1438G>T	p.Gly480Cys \| p.G480C	LRG_663t1:c.1438G>T, NM_000492.3:c.1438G>T	Pathogenic	09/30/2013
200	CFTR	Ex11	NM_000492.3:c.1446T>A	p.Ile482= \| p.I482=	LRG_663t1:c.1446T>A, NM_000492.3:c.1446T>A	VOUS	04/27/2018
201	CFTR	Ex11	NM_000492.3:c.1450C>T	p.His484Tyr \| p.H484Y	LRG_663t1:c.1450C>T, NM_000492.3:c.1450C>T	VOUS	05/08/2017
202	CFTR	Ex11	NM_000492.3:c.1454G>C	p.Ser485Thr \| p.S485T	LRG_663t1:c.1454G>C, NM_000492.3:c.1454G>C	VOUS	02/18/2019
203	CFTR	Ex11	NM_000492.3:c.1477C>T	p.Gln493* \| p.Q493X	LRG_663t1:c.1477C>T, NM_000492.3:c.1477C>T	Pathogenic	08/15/2018
204	CFTR	Ex11	NM_000492.3:c.1479G>C	p.Gln493His \| p.Q493H	LRG_663t1:c.1479G>C, NM_000492.3:c.1479G>C	VOUS	11/04/2016
205	CFTR	Ex11	NM_000492.3:c.1499G>A	p.Gly500Asp \| p.G500D	LRG_663t1:c.1499G>A, NM_000492.3:c.1499G>A	VOUS	08/12/2016
206	CFTR	Ex11	NM_000492.3:c.1516A>G	p.Ile506Val \| p.I506V	LRG_663t1:c.1516A>G, NM_000492.3:c.1516A>G	Benign	07/06/2016
207	CFTR	Ex11	NM_000492.3:c.1517T>C	p.Ile506Thr \| p.I506T	LRG_663t1:c.1517T>C, NM_000492.3:c.1517T>C	Likely pathogenic	07/30/2018
208	CFTR	Ex11	NM_000492.3:c.1519_1521delATC	p.Ile507del \| p.I507del	LRG_663t1:c.1519_1521delATC, NM_000492.3:c.1519_1521delATC	Pathogenic	11/30/2018
209	CFTR	Ex11	NM_000492.3:c.1521_1523delCTT	p.Phe508del \| p.F508del	delF508, DeltaF508, dF508, LRG_663t1:c.1521_1523delCTT, NM_000492.3:c.1521_1523delCTT	Pathogenic	09/17/2019
210	CFTR	Ex11	NM_000492.3:c.1523T>G	p.Phe508Cys \| p.F508C	LRG_663t1:c.1523T>G, NM_000492.3:c.1523T>G	Benign	04/14/2016
211	CFTR	Ex11	NM_000492.3:c.1534T>A	p.Tyr512Asn \| p.Y512N	LRG_663t1:c.1534T>A, NM_000492.3:c.1534T>A	VOUS	11/15/2017
212	CFTR	Ex11	NM_000492.3:c.1552A>G	p.Arg518Gly \| p.R518G	LRG_663t1:c.1552A>G, NM_000492.3:c.1552A>G	VOUS	04/26/2018
213	CFTR	Ex11	NM_000492.3:c.1558G>A	p.Val520Ile \| p.V520I	LRG_663t1:c.1558G>A, NM_000492.3:c.1558G>A	VOUS	08/05/2019
214	CFTR	Ex11	NM_000492.3:c.1582G>A	p.Glu528Lys \| p.E528K	LRG_663t1:c.1582G>A, NM_000492.3:c.1582G>A	VOUS	05/21/2018
215	CFTR	Ex11	NM_000492.3:c.1584G>T	p.Glu528Asp \| p.E528D	LRG_663t1:c.1584G>T, NM_000492.3:c.1584G>T	VOUS	12/20/2017
216	CFTR	Ex11	NM_000492.3:c.1584G>A	p.Glu528= \| p.E528=	LRG_663t1:c.1584G>A, NM_000492.3:c.1584G>A	Benign	12/03/2019
217	CFTR	Ex12	NM_000492.3:c.1585-1G>A		LRG_663t1:c.1585-1G>A, NM_000492.3:c.1585-1G>A	Pathogenic	10/01/2019
218	CFTR	Ex12	NM_000492.3:c.1586A>G	p.Asp529Gly \| p.D529G	LRG_663t1:c.1586A>G, NM_000492.3:c.1586A>G	VOUS	12/04/2017
219	CFTR	Ex12	NM_000492.3:c.1606A>G	p.Lys536Glu \| p.K536E	LRG_663t1:c.1606A>G, NM_000492.3:c.1606A>G	VOUS	12/03/2019
220	CFTR	Ex12	NM_000492.3:c.1612A>C	p.Asn538His \| p.N538H	LRG_663t1:c.1612A>C, NM_000492.3:c.1612A>C	VOUS	05/13/2019
221	CFTR	Ex12	NM_000492.3:c.1616T>C	p.Ile539Thr \| p.I539T	LRG_663t1:c.1616T>C, NM_000492.3:c.1616T>C	VOUS	07/19/2018
222	CFTR	Ex12	NM_000492.3:c.1624G>T	p.Gly542* \| p.G542X	LRG_663t1:c.1624G>T, NM_000492.3:c.1624G>T	Pathogenic	12/27/2018
223	CFTR	Ex12	NM_000492.3:c.1630G>A	p.Gly544Ser \| p.G544S	LRG_663t1:c.1630G>A, NM_000492.3:c.1630G>A	VOUS	09/11/2019
224	CFTR	Ex12	NM_000492.3:c.1645A>C	p.Ser549Arg \| p.S549R	LRG_663t1:c.1645A>C, NM_000492.3:c.1645A>C	Pathogenic	**
225	CFTR	Ex12	NM_000492.3:c.1646G>A	p.Ser549Asn \| p.S549N	LRG_663t1:c.1646G>A, NM_000492.3:c.1646G>A	Pathogenic	07/30/2018
226	CFTR	Ex12	NM_000492.3:c.1651G>A	p.Gly551Ser \| p.G551S	LRG_663t1:c.1651G>A, NM_000492.3:c.1651G>A	Pathogenic	**
227	CFTR	Ex12	NM_000492.3:c.1652G>A	p.Gly551Asp \| p.G551D	LRG_663t1:c.1652G>A, NM_000492.3:c.1652G>A	Pathogenic	10/23/2019
228	CFTR	Ex12	NM_000492.3:c.1655A>C	p.Gln552Pro \| p.Q552P	LRG_663t1:c.1655A>C, NM_000492.3:c.1655A>C	VOUS	07/17/2019
229	CFTR	Ex12	NM_000492.3:c.1657C>T	p.Arg553* \| p.R553X	LRG_663t1:c.1657C>T, NM_000492.3:c.1657C>T	Pathogenic	08/15/2017
230	CFTR	Ex12	NM_000492.3:c.1666A>G	p.Ile556Val \| p.I556V	LRG_663t1:c.1666A>G, NM_000492.3:c.1666A>G	Benign	10/17/2014
231	CFTR	Ex12	NM_000492.3:c.1674A>G	p.Leu558= \| p.L558=	LRG_663t1:c.1674A>G, NM_000492.3:c.1674A>G	VOUS	08/07/2019
232	CFTR	Ex12	NM_000492.3:c.1675G>A	p.Ala559Thr \| p.A559T	LRG_663t1:c.1675G>A, NM_000492.3:c.1675G>A	Pathogenic	02/22/2018
233	CFTR	Ex12	NM_000492.3:c.1675G>C	p.Ala559Pro \| p.A559P		VOUS	**
234	CFTR	Ex12	NM_000492.3:c.1679G>C	p.Arg560Thr \| p.R560T	LRG_663t1:c.1679G>C, NM_000492.3:c.1679G>C	Pathogenic	05/09/2019
235	CFTR	Ex12	NM_000492.3:c.1679G>A	p.Arg560Lys \| p.R560K	LRG_663t1:c.1679G>A, NM_000492.3:c.1679G>A	Pathogenic	**
236	CFTR	Ex12	NM_000492.3:c.1679+1G>A		LRG_663t1:c.1679+1G>A, NM_000492.3:c.1679+1G>A	Pathogenic	04/28/2016
237	CFTR	Ex12	NM_000492.3:c.1679+16T>C			VOUS	07/16/2019
238	CFTR	Ex13	NM_000492.3:c.1680-886A>G		LRG_663t1:c.1680-886A>G, NM_000492.3:c.1680-886A>G	Pathogenic	02/28/2017
239	CFTR	Ex13	NM_000492.3:c.1680-8C>A		LRG_663t1:c.1680-8C>A, NM_000492.3:c.1680-8C>A	VOUS	07/17/2018
240	CFTR	Ex13	NM_000492.3:c.1680-6T>G		LRG_663t1:c.1680-6T>G, NM_000492.3:c.1680-6T>G	VOUS	06/13/2019
241	CFTR	Ex13	NM_000492.3:c.1684G>A	p.Val562Ile \| p.V562I	LRG_663t1:c.1684G>A, NM_000492.3:c.1684G>A	VOUS	11/08/2019
242	CFTR	Ex13	NM_000492.3:c.1692delA	p.Asp565Metfs*7 \| p.D565MfsX7	LRG_663t1:c.1692delA, NM_000492.3:c.1692delA	Pathogenic	**
243	CFTR	Ex13	NM_000492.3:c.1706A>G	p.Tyr569Cys \| p.Y569C		Pathogenic	**
244	CFTR	Ex13	NM_000492.3:c.1707T>C	p.Tyr569= \| p.Y569=		VOUS	12/16/2019
245	CFTR	Ex13	NM_000492.3:c.1718C>T	p.Ser573Phe \| p.S573F	LRG_663t1:c.1718C>T, NM_000492.3:c.1718C>T	VOUS	06/07/2017
246	CFTR	Ex13	NM_000492.3:c.1721C>A	p.Pro574His \| p.P574H		Pathogenic	**
247	CFTR	Ex13	NM_000492.3:c.1727G>C	p.Gly576Ala \| p.G576A	LRG_663t1:c.1727G>C, NM_000492.3:c.1727G>C	VOUS	01/02/2020
248	CFTR	Ex13	NM_000492.3:c.1753G>T	p.Glu585* \| p.E585X	LRG_663t1:c.1753G>T, NM_000492.3:c.1753G>T	Pathogenic	08/07/2017
249	CFTR	Ex13	NM_000492.3:c.1763A>G	p.Glu588Gly \| p.E588G	LRG_663t1:c.1763A>G, NM_000492.3:c.1763A>G	VOUS	06/30/2017
250	CFTR	Ex13	NM_000492.3:c.1766+2T>A		LRG_663t1:c.1766+2T>A, NM_000492.3:c.1766+2T>A	Pathogenic	08/31/2018
251	CFTR	Ex13	NM_000492.3:c.1766+3A>G		LRG_663t1:c.1766+3A>G, NM_000492.3:c.1766+3A>G	Pathogenic	05/23/2016
252	CFTR	Ex13	NM_000492.3:c.1766+26T>C			VOUS	**
253	CFTR	Ex13	NM_000492.3:c.1766+73T>G		LRG_663t1:c.1766+73T>G, NM_000492.3:c.1766+73T>G	VOUS	09/18/2017
254	CFTR	Ex14	NM_000492.3:c.1807G>A	p.Val603Ile \| p.V603I	LRG_663t1:c.1807G>A, NM_000492.3:c.1807G>A	VOUS	11/14/2019
255	CFTR	Ex14	NM_000492.3:c.1811C>G	p.Thr604Ser \| p.T604S	LRG_663t1:c.1811C>G, NM_000492.3:c.1811C>G	VOUS	04/19/2019
256	CFTR	Ex14	NM_000492.3:c.1820_1903del	p.Met607_Gln634del \| p.M607_Q634del	LRG_663t1:c.1820_1903delTGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAA, NM_000492.3:c.1820_1903delTGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAA	Pathogenic	11/09/2018
257	CFTR	Ex14	NM_000492.3:c.1826A>G	p.His609Arg \| p.H609R	LRG_663t1:c.1826A>G, NM_000492.3:c.1826A>G	Pathogenic	07/14/2019
258	CFTR	Ex14	NM_000492.3:c.1853T>C	p.Ile618Thr \| p.I618T	LRG_663t1:c.1853T>C, NM_000492.3:c.1853T>C	Pathogenic	05/02/2019
259	CFTR	Ex14	NM_000492.3:c.1865G>A	p.Gly622Asp \| p.G622D	LRG_663t1:c.1865G>A	Pathogenic	11/13/2019
260	CFTR	Ex14	NM_000492.3:c.1882G>C	p.Gly628Arg \| p.G628R	LRG_663t1:c.1882G>C, NM_000492.3:c.1882G>C	Likely pathogenic	12/22/2017
261	CFTR	Ex14	NM_000492.3:c.1885A>G	p.Thr629Ala \| p.T629A	LRG_663t1:c.1885A>G, NM_000492.3:c.1885A>G	VOUS	11/13/2019
262	CFTR	Ex14	NM_000492.3:c.1920T>C	p.Phe640= \| p.F640=	LRG_663t1:c.1920T>C, NM_000492.3:c.1920T>C	VOUS	01/22/2020
263	CFTR	Ex14	NM_000492.3:c.1970delG			Pathogenic	**
264	CFTR	Ex14	NM_000492.3:c.2002C>T	p.Arg668Cys \| p.R668C	LRG_663t1:c.2002C>T, NM_000492.3:c.2002C>T	VOUS	11/08/2019
265	CFTR	Ex14	NM_000492.3:c.2042A>T	p.Glu681Val \| p.E681V	LRG_663t1:c.2042A>T, NM_000492.3:c.2042A>T	VOUS	03/25/2016
266	CFTR	Ex14	NM_000492.3:c.2051_2052delAAinsG	p.Lys684Serfs*38 \| p.K684SfsX38	LRG_663t1:c.2051_2052delinsG, NM_000492.3:c.2051_2052delinsG	Pathogenic	01/02/2020
267	CFTR	Ex14	NM_000492.3:c.2052dupA	p.Gln685Thrfs*4 \| p.Q685TfsX4	LRG_663t1:c.2052dupA, NM_000492.3:c.2052dup, NM_000492.3:c.2052dupA	Pathogenic	12/03/2013
268	CFTR	Ex14	NM_000492.3:c.2052_2053insA			Pathogenic	**
269	CFTR	Ex14	NM_000492.3:c.2055A>G	p.Gln685= \| p.Q685=	LRG_663t1:c.2055A>G, NM_000492.3:c.2055A>G	VOUS	09/04/2018
270	CFTR	Ex14	NM_000492.3:c.2079T>G	p.Phe693Leu \| p.F693L	LRG_663t1:c.2079T>G, NM_000492.3:c.2079T>G	Likely benign	02/19/2020
271	CFTR	Ex14	NM_000492.3:c.2125C>T	p.Arg709* \| p.R709X	LRG_663t1:c.2125C>T, NM_000492.3:c.2125C>T	Pathogenic	05/31/2018
272	CFTR	Ex14	NM_000492.3:c.2145A>C	p.Gln715His \| p.Q715H	LRG_663t1:c.2145A>C, NM_000492.3:c.2145A>C	VOUS	07/26/2017
273	CFTR	Ex14	NM_000492.3:c.2153C>G	p.Pro718Arg \| p.P718R	LRG_663t1:c.2153C>G, NM_000492.3:c.2153C>G	VOUS	10/02/2018
274	CFTR	Ex14	NM_000492.3:c.2169C>T	p.Gly723= \| p.G723=	LRG_663t1:c.2169C>T, NM_000492.3:c.2169C>T	VOUS	12/14/2018
275	CFTR	Ex14	NM_000492.3:c.2173G>A	p.Glu725Lys \| p.E725K	LRG_663t1:c.2173G>A, NM_000492.3:c.2173G>A	VOUS	12/27/2016
276	CFTR	Ex14	NM_000492.3:c.2175dupA	p.Glu726Argfs*4 \| p.E726RfsX4	c2307dupA, LRG_663t1:c.2175dupA, NM_000492.3:c.2175dupA	Pathogenic	01/19/2018
277	CFTR	Ex14	NM_000492.3:c.2191C>T	p.Pro731Ser \| p.P731S	LRG_663t1:c.2191C>T, NM_000492.3:c.2191C>T	VOUS	06/20/2018
278	CFTR	Ex14	NM_000492.3:c.2193T>C	p.Pro731= \| p.P731=	LRG_663t1:c.2193T>C, NM_000492.3:c.2193T>C	VOUS	05/09/2016
279	CFTR	Ex14	NM_000492.3:c.2205G>C	p.Arg735Ser \| p.R735S	LRG_663t1:c.2205G>C, NM_000492.3:c.2205G>C	VOUS	10/31/2018
280	CFTR	Ex14	NM_000492.3:c.2210C>T	p.Ser737Phe \| p.S737F	LRG_663t1:c.2210C>T, NM_000492.3:c.2210C>T	Pathogenic	**
281	CFTR	Ex14	NM_000492.3:c.2245C>T	p.Leu749= \| p.L749=	LRG_663t1:c.2245C>T, NM_000492.3:c.2245C>T	VOUS	02/04/2019
282	CFTR	Ex14	NM_000492.3:c.2249C>T	p.Pro750Leu \| p.P750L	LRG_663t1:c.2249C>T, NM_000492.3:c.2249C>T	VOUS	02/10/2020
283	CFTR	Ex14	NM_000492.3:c.2251C>T	p.Arg751Cys \| p.R751C	LRG_663t1:c.2251C>T, NM_000492.3:c.2251C>T	VOUS	12/27/2017
284	CFTR	Ex14	NM_000492.3:c.2260G>A	p.Val754Met \| p.V754M	LRG_663t1:c.2260G>A, NM_000492.3:c.2260G>A	VOUS	06/19/2019
285	CFTR	Ex14	NM_000492.3:c.2280G>A	p.Thr760= \| p.T760=	LRG_663t1:c.2280G>A, NM_000492.3:c.2280G>A	VOUS	01/21/2019
286	CFTR	Ex14	NM_000492.3:c.2347A>G	p.Ile783Val \| p.I783V	LRG_663t1:c.2347A>G, NM_000492.3:c.2347A>G	VOUS	04/16/2019
287	CFTR	Ex14	NM_000492.3:c.2353C>T	p.Arg785* \| p.R785X	LRG_663t1:c.2353C>T, NM_000492.3:c.2353C>T	Pathogenic	09/24/2019
288	CFTR	Ex14	NM_000492.3:c.2372_2377delCACGAA	p.Thr791_Arg792del \| p.T791_R792del	LRG_663t1:c.2372_2377delCACGAA, NM_000492.3:c.2372_2377delCACGAA	VOUS	08/11/2017
289	CFTR	Ex14	NM_000492.3:c.2374C>A	p.Arg792= \| p.R792=		VOUS	**
290	CFTR	Ex14	NM_000492.3:c.2374C>G	p.Arg792Gly \| p.R792G	LRG_663t1:c.2374C>G, NM_000492.3:c.2374C>G	VOUS	12/03/2019
291	CFTR	Ex14	NM_000492.3:c.2392C>T	p.Pro798Ser \| p.P798S	LRG_663t1:c.2392C>T, NM_000492.3:c.2392C>T	VOUS	01/27/2017
292	CFTR	Ex14	NM_000492.3:c.2393C>G	p.Pro798Arg \| p.P798R	LRG_663t1:c.2393C>G, NM_000492.3:c.2393C>G	VOUS	12/02/2019
293	CFTR	Ex14	NM_000492.3:c.2421A>G	p.Ile807Met \| p.I807M	LRG_663t1:c.2421A>G, NM_000492.3:c.2421A>G	VOUS	10/24/2019
294	CFTR	Ex14	NM_000492.3:c.2424T>C	p.Tyr808= \| p.Y808=	LRG_663t1:c.2424T>C, NM_000492.3:c.2424T>C	VOUS	01/30/2020
295	CFTR	Ex14	NM_000492.3:c.2450G>T	p.Gly817Val \| p.G817V	LRG_663t1:c.2450G>T, NM_000492.3:c.2450G>T	VOUS	12/03/2019
296	CFTR	Ex14	NM_000492.3:c.2458A>T	p.Ile820Leu \| p.I820L		VOUS	12/19/2019
297	CFTR	Ex14	NM_000492.3:c.2475C>T	p.Asn825= \| p.N825=	LRG_663t1:c.2475C>T, NM_000492.3:c.2475C>T	VOUS	10/11/2019
298	CFTR	Ex14	NM_000492.3:c.2482G>A	p.Asp828Asn \| p.D828N	LRG_663t1:c.2482G>A, NM_000492.3:c.2482G>A	VOUS	08/21/2019
299	CFTR	Ex14	NM_000492.3:c.2490+5G>T		LRG_663t1:c.2490+5G>T, NM_000492.3:c.2490+5G>T	VOUS	06/17/2016
300	CFTR	Ex15	NM_000492.3:c.2506G>T	p.Asp836Tyr \| p.D836Y	LRG_663t1:c.2506G>T, NM_000492.3:c.2506G>T	VOUS	06/20/2019
301	CFTR	Ex15	NM_000492.3:c.2537G>A	p.Trp846* \| p.W846X		Pathogenic	**
302	CFTR	Ex15	NM_000492.3:c.2540A>G	p.Asn847Ser \| p.N847S	LRG_663t1:c.2540A>G, NM_000492.3:c.2540A>G	VOUS	01/07/2020
303	CFTR	Ex15	NM_000492.3:c.2544A>T	p.Thr848= \| p.T848=	LRG_663t1:c.2544A>T, NM_000492.3:c.2544A>T	VOUS	01/16/2017
304	CFTR	Ex15	NM_000492.3:c.2559T>C	p.Ile853= \| p.I853=	LRG_663t1:c.2559T>C, NM_000492.3:c.2559T>C	VOUS	01/15/2020
305	CFTR	Ex15	NM_000492.3:c.2561_2562delCTinsTG	p.Thr854Met \| p.T854M	LRG_663t1:c.2561_2562delinsTG, NM_000492.3:c.2561_2562delinsTG	VOUS	12/04/2018
306	CFTR	Ex15	NM_000492.3:c.2562T>G	p.Thr854= \| p.T854=	LRG_663t1:c.2562T>G, NM_000492.3:c.2562T>G	Benign	11/20/2018
307	CFTR	Ex15	NM_000492.3:c.2583delT	p.Phe861Leufs*3 \| p.F861LfsX3	LRG_663t1:c.2583delT, NM_000492.3:c.2583delT	Pathogenic	10/30/2018
308	CFTR	Ex15	NM_000492.3:c.2597G>A	p.Cys866Tyr \| p.C866Y	LRG_663t1:c.2597G>A, NM_000492.3:c.2597G>A	VOUS	12/03/2019
309	CFTR	Ex15	NM_000492.3:c.2619+1G>A		LRG_663t1:c.2619+1G>A, NM_000492.3:c.2619+1G>A	Pathogenic	05/18/2017
310	CFTR	Ex16	NM_000492.3:c.2620-26A>G		LRG_663t1:c.2620-26A>G, NM_000492.3:c.2620-26A>G	Likely benign	04/23/2019
311	CFTR	Ex16	NM_000492.3:c.2620-15C>G		LRG_663t1:c.2620-15C>G, NM_000492.3:c.2620-15C>G	Benign	11/29/2016
312	CFTR	Ex16	NM_000492.3:c.2620-6T>C		LRG_663t1:c.2620-6T>C, NM_000492.3:c.2620-6T>C	VOUS	06/09/2016
313	CFTR	Ex16	NM_000492.3:c.2657+2_2657+3insA		c.2789insA, LRG_663t1:c.2657+2_2657+3insA, NM_000492.3:c.2657+2_2657+3insA	Pathogenic	11/05/2019
314	CFTR	Ex16	NM_000492.3:c.2657+5G>A		LRG_663t1:c.2657+5G>A, NM_000492.3:c.2657+5G>A	Pathogenic	12/04/2019
315	CFTR	Ex17	NM_000492.3:c.2658-2A>G		LRG_663t1:c.2658-2A>G, NM_000492.3:c.2658-2A>G	Pathogenic	10/17/2016
316	CFTR	Ex17	NM_000492.3:c.2659A>C	p.Thr887Pro \| p.T887P	LRG_663t1:c.2659A>C, NM_000492.3:c.2659A>C	VOUS	05/07/2019
317	CFTR	Ex17	NM_000492.3:c.2665C>T	p.Leu889Phe \| p.L889F	LRG_663t1:c.2665C>T, NM_000492.3:c.2665C>T	VOUS	06/27/2018
318	CFTR	Ex17	NM_000492.3:c.2673C>G	p.Asp891Glu \| p.D891E	LRG_663t1:c.2673C>G, NM_000492.3:c.2673C>G	VOUS	12/05/2016
319	CFTR	Ex17	NM_000492.3:c.2709T>C	p.Tyr903= \| p.Y903=	LRG_663t1:c.2709T>C, NM_000492.3:c.2709T>C	VOUS	05/16/2019
320	CFTR	Ex17	NM_000492.3:c.2723C>A	p.Thr908Asn \| p.T908N	LRG_663t1:c.2723C>A, NM_000492.3:c.2723C>A	VOUS	11/08/2019
321	CFTR	Ex17	NM_000492.3:c.2732G>C	p.Ser911Thr \| p.S911T		VOUS	01/13/2020
322	CFTR	Ex17	NM_000492.3:c.2735C>T	p.Ser912Leu \| p.S912L	LRG_663t1:c.2735C>T, NM_000492.3:c.2735C>T	VOUS	03/21/2019
323	CFTR	Ex17	NM_000492.3:c.2736G>A	p.Ser912= \| p.S912=	LRG_663t1:c.2736G>A, NM_000492.3:c.2736G>A	VOUS	01/02/2019
324	CFTR	Ex17	NM_000492.3:c.2736G>C	p.Ser912= \| p.S912=	LRG_663t1:c.2736G>C, NM_000492.3:c.2736G>C	VOUS	08/22/2017
325	CFTR	Ex17	NM_000492.3:c.2739T>A	p.Tyr913* \| p.Y913X	NM_000492.3:c.2739T>A	Pathogenic	**
326	CFTR	Ex17	NM_000492.3:c.2756A>G	p.Tyr919Cys \| p.Y919C	LRG_663t1:c.2756A>G, NM_000492.3:c.2756A>G	VOUS	07/06/2018
327	CFTR	Ex17	NM_000492.3:c.2757C>T	p.Tyr919= \| p.Y919=	LRG_663t1:c.2757C>T, NM_000492.3:c.2757C>T	VOUS	11/02/2018
328	CFTR	Ex17	NM_000492.3:c.2758G>A	p.Val920Met \| p.V920M	LRG_663t1:c.2758G>A, NM_000492.3:c.2758G>A	VOUS	01/08/2018
329	CFTR	Ex17	NM_000492.3:c.2758G>T	p.Val920Leu \| p.V920L	LRG_663t1:c.2758G>T, NM_000492.3:c.2758G>T	VOUS	03/13/2017
330	CFTR	Ex17	NM_000492.3:c.2769C>T	p.Ala923= \| p.A923=	LRG_663t1:c.2769C>T, NM_000492.3:c.2769C>T	VOUS	04/14/2017
331	CFTR	Ex17	NM_000492.3:c.2770G>A	p.Asp924Asn \| p.D924N	LRG_663t1:c.2770G>A, NM_000492.3:c.2770G>A	VOUS	12/05/2016
332	CFTR	Ex17	NM_000492.3:c.2772C>A	p.Asp924Glu \| p.D924E	LRG_663t1:c.2772C>A, NM_000492.3:c.2772C>A	VOUS	11/29/2017
333	CFTR	Ex17	NM_000492.3:c.2797A>G	p.Arg933Gly \| p.R933G	LRG_663t1:c.2797A>G, NM_000492.3:c.2797A>G	VOUS	06/08/2017
334	CFTR	Ex17	NM_000492.3:c.2805A>G	p.Leu935= \| p.L935=	LRG_663t1:c.2805A>G, NM_000492.3:c.2805A>G	VOUS	08/29/2019
335	CFTR	Ex17	NM_000492.3:c.2813T>G	p.Val938Gly \| p.V938G	LRG_663t1:c.2813T>G, NM_000492.3:c.2813T>G	VOUS	10/19/2017
336	CFTR	Ex17	NM_000492.3:c.2820T>G	p.Thr940= \| p.T940=	LRG_663t1:c.2820T>G, NM_000492.3:c.2820T>G	Likely benign	12/15/2016
337	CFTR	Ex17	NM_000492.3:c.2822delT	p.Leu941Glnfs*27 \| p.L941QfsX27	LRG_663t1:c.2822delT, NM_000492.3:c.2822delT	Pathogenic	10/25/2018
338	CFTR	Ex17	NM_000492.3:c.2832G>A	p.Val944= \| p.V944=	LRG_663t1:c.2832G>A, NM_000492.3:c.2832G>A	VOUS	12/11/2019
339	CFTR	Ex17	NM_000492.3:c.2834C>T	p.Ser945Leu \| p.S945L	LRG_663t1:c.2834C>T, NM_000492.3:c.2834C>T	Pathogenic	04/13/2015
340	CFTR	Ex17	NM_000492.3:c.2855T>C	p.Met952Thr \| p.M952T	LRG_663t1:c.2855T>C, NM_000492.3:c.2855T>C	VOUS	10/07/2016
341	CFTR	Ex17	NM_000492.3:c.2856G>A	p.Met952Ile \| p.M952I	LRG_663t1:c.2856G>A, NM_000492.3:c.2856G>A	VOUS	05/17/2018
342	CFTR	Ex17	NM_000492.3:c.2856G>C	p.Met952Ile \| p.M952I	LRG_663t1:c.2856G>C, NM_000492.3:c.2856G>C	Likely pathogenic	04/23/2019
343	CFTR	Ex17	NM_000492.3:c.2882T>C	p.Met961Thr \| p.M961T	LRG_663t1:c.2882T>C, NM_000492.3:c.2882T>C	VOUS	03/28/2017
344	CFTR	Ex17	NM_000492.3:c.2895C>A	p.Asn965Lys \| p.N965K	LRG_663t1:c.2895C>A, NM_000492.3:c.2895C>A	VOUS	01/22/2020
345	CFTR	Ex17	NM_000492.3:c.2898G>A	p.Thr966= \| p.T966=	LRG_663t1:c.2898G>A, NM_000492.3:c.2898G>A	Benign	10/12/2017
346	CFTR	Ex17	NM_000492.3:c.2900T>C	p.Leu967Ser \| p.L967S	LRG_663t1:c.2900T>C, NM_000492.3:c.2900T>C	VOUS	03/11/2019
347	CFTR	Ex17	NM_000492.3:c.2908+4C>A		LRG_663t1:c.2908+4C>A, NM_000492.3:c.2908+4C>A	VOUS	04/12/2018
348	CFTR	Ex17	NM_000492.3:c.2908+19G>C			VOUS	**
349	CFTR	Ex18	NM_000492.3:c.2909-4A>G		LRG_663t1:c.2909-4A>G, NM_000492.3:c.2909-4A>G	VOUS	11/23/2016
350	CFTR	Ex18	NM_000492.3:c.2909_2924dupGTGGGATTCTTAATAG	p.Phe976Trpfs*4 \| p.F976WfsX4	LRG_663t1:c.2909_2924dupGTGGGATTCTTAATAG, NM_000492.3:c.2909_2924dupGTGGGATTCTTAATAG	Pathogenic	11/05/2019
351	CFTR	Ex18	NM_000492.3:c.2946T>G	p.Ile982Met \| p.I982M	LRG_663t1:c.2946T>G, NM_000492.3:c.2946T>G	VOUS	07/22/2019
352	CFTR	Ex18	NM_000492.3:c.2981T>G	p.Phe994Cys \| p.F994C	LRG_663t1:c.2981T>G, NM_000492.3:c.2981T>G	VOUS	08/09/2018
353	CFTR	Ex18	NM_000492.3:c.2988G>A	p.Gln996= \| p.Q996=	LRG_663t1:c.2988G>A, NM_000492.3:c.2988G>A	Pathogenic	06/15/2017
354	CFTR	Ex18	NM_000492.3:c.2988+1G>A		3120+1 G>A, LRG_663t1:c.2988+1G>A, NM_000492.3:c.2988+1G>A	Pathogenic	07/12/2019
355	CFTR	Ex19	NM_000492.3:c.2991G>C	p.Leu997Phe \| p.L997F	LRG_663t1:c.2991G>C, NM_000492.3:c.2991G>C	VOUS	08/05/2019
356	CFTR	Ex19	NM_000492.3:c.2998A>T	p.Ile1000Phe \| p.I1000F	LRG_663t1:c.2998A>T, NM_000492.3:c.2998A>T	VOUS	12/11/2018
357	CFTR	Ex19	NM_000492.3:c.3001G>A	p.Val1001Met \| p.V1001M	LRG_663t1:c.3001G>A, NM_000492.3:c.3001G>A	VOUS	09/06/2018
358	CFTR	Ex19	NM_000492.3:c.3024C>T	p.Val1008= \| p.V1008=	NM_000492.3:c.3024C>T	VOUS	02/12/2015
359	CFTR	Ex19	NM_000492.3:c.3025G>A	p.Ala1009Thr \| p.A1009T	LRG_663t1:c.3025G>A, NM_000492.3:c.3025G>A	VOUS	10/22/2019
360	CFTR	Ex19	NM_000492.3:c.3036A>G	p.Gln1012= \| p.Q1012=	LRG_663t1:c.3036A>G, NM_000492.3:c.3036A>G	VOUS	09/19/2019
361	CFTR	Ex19	NM_000492.3:c.3038C>T	p.Pro1013Leu \| p.P1013L	LRG_663t1:c.3038C>T, NM_000492.3:c.3038C>T	VOUS	12/26/2019
362	CFTR	Ex19	NM_000492.3:c.3041A>G	p.Tyr1014Cys \| p.Y1014C	LRG_663t1:c.3041A>G, NM_000492.3:c.3041A>G	VOUS	08/15/2019
363	CFTR	Ex19	NM_000492.3:c.3067_3072delATAGTG			Pathogenic	08/06/2012
364	CFTR	Ex19	NM_000492.3:c.3073G>T	p.Ala1025Ser \| p.A1025S	LRG_663t1:c.3073G>T, NM_000492.3:c.3073G>T	VOUS	12/13/2018
365	CFTR	Ex19	NM_000492.3:c.3080T>C	p.Ile1027Thr \| p.I1027T	LRG_663t1:c.3080T>C, NM_000492.3:c.3080T>C	Benign	12/18/2012
366	CFTR	Ex19	NM_000492.3:c.3083T>G	p.Met1028Arg \| p.M1028R	LRG_663t1:c.3083T>G, NM_000492.3:c.3083T>G	VOUS	08/27/2019
367	CFTR	Ex19	NM_000492.3:c.3095A>G	p.Tyr1032Cys \| p.Y1032C	LRG_663t1:c.3095A>G, NM_000492.3:c.3095A>G	Likely pathogenic	06/11/2018
368	CFTR	Ex19	NM_000492.3:c.3100C>T	p.Leu1034Phe \| p.L1034F	LRG_663t1:c.3100C>T, NM_000492.3:c.3100C>T	VOUS	03/08/2017
369	CFTR	Ex19	NM_000492.3:c.3121A>C	p.Lys1041Gln \| p.K1041Q	LRG_663t1:c.3121A>C, NM_000492.3:c.3121A>C	VOUS	11/14/2019
370	CFTR	Ex19	NM_000492.3:c.3139G>T	p.Gly1047Cys \| p.G1047C	LRG_663t1:c.3139G>T, NM_000492.3:c.3139G>T	VOUS	10/02/2015
371	CFTR	Ex19	NM_000492.3:c.3139delG			Pathogenic	**
372	CFTR	Ex19	NM_000492.3:c.3139+1delG			Pathogenic	**
373	CFTR	Ex19	NM_000492.3:c.3139+8A>G		LRG_663t1:c.3139+8A>G, NM_000492.3:c.3139+8A>G	VOUS	10/01/2018
374	CFTR	Ex19	NM_000492.3:c.3139+18C>T			VOUS	**
375	CFTR	Ex19	NM_000492.3:c.3139+42A>T			Benign	**
376	CFTR	Ex20	NM_000492.3:c.3140-26A>G		LRG_663t1:c.3140-26A>G, NM_000492.3:c.3140-26A>G	Pathogenic	04/27/2017
377	CFTR	Ex20	NM_000492.3:c.3154T>G	p.Phe1052Val \| p.F1052V	LRG_663t1:c.3154T>G, NM_000492.3:c.3154T>G	VOUS	11/25/2019
378	CFTR	Ex20	NM_000492.3:c.3169A>G	p.Thr1057Ala \| p.T1057A	LRG_663t1:c.3169A>G, NM_000492.3:c.3169A>G	VOUS	09/02/2015
379	CFTR	Ex20	NM_000492.3:c.3177A>G	p.Leu1059= \| p.L1059=	LRG_663t1:c.3177A>G, NM_000492.3:c.3177A>G	VOUS	09/17/2019
380	CFTR	Ex20	NM_000492.3:c.3181G>C	p.Gly1061Arg \| p.G1061R	LRG_663t1:c.3181G>C, NM_000492.3:c.3181G>C	Likely pathogenic	03/02/2018
381	CFTR	Ex20	NM_000492.3:c.3194T>C	p.Leu1065Pro \| p.L1065P	NM_000492.3:c.3194T>C	Pathogenic	12/16/2015
382	CFTR	Ex20	NM_000492.3:c.3196C>T	p.Arg1066Cys \| p.R1066C	LRG_663t1:c.3196C>T, NM_000492.3:c.3196C>T	Pathogenic	06/12/2017
383	CFTR	Ex20	NM_000492.3:c.3197G>A	p.Arg1066His \| p.R1066H	LRG_663t1:c.3197G>A, NM_000492.3:c.3197G>A	Pathogenic	12/10/2018
384	CFTR	Ex20	NM_000492.3:c.3199G>A	p.Ala1067Thr \| p.A1067T	NM_000492.3:c.3199G>A	VOUS	04/16/2013
385	CFTR	Ex20	NM_000492.3:c.3200C>T	p.Ala1067Val \| p.A1067V	NM_000492.3:c.3200C>T	VOUS	02/11/2016
386	CFTR	Ex20	NM_000492.3:c.3205G>A	p.Gly1069Arg \| p.G1069R	LRG_663t1:c.3205G>A, NM_000492.3:c.3205G>A	VOUS	08/27/2019
387	CFTR	Ex20	NM_000492.3:c.3209G>A	p.Arg1070Gln \| p.R1070Q	LRG_663t1:c.3209G>A, NM_000492.3:c.3209G>A	Pathogenic	04/28/2015
388	CFTR	Ex20	NM_000492.3:c.3222T>A	p.Phe1074Leu \| p.F1074L	LRG_663t1:c.3222T>A, NM_000492.3:c.3222T>A	Likely pathogenic	05/23/2018
389	CFTR	Ex20	NM_000492.3:c.3256A>G	p.Thr1086Ala \| p.T1086A	LRG_663t1:c.3256A>G, NM_000492.3:c.3256A>G	VOUS	03/12/2019
390	CFTR	Ex20	NM_000492.3:c.3256A>T	p.Thr1086Ser \| p.T1086S	LRG_663t1:c.3256A>T, NM_000492.3:c.3256A>T	VOUS	06/12/2017
391	CFTR	Ex20	NM_000492.3:c.3273G>C	p.Leu1091Phe \| p.L1091F	LRG_663t1:c.3273G>C, NM_000492.3:c.3273G>C	VOUS	01/20/2020
392	CFTR	Ex20	NM_000492.3:c.3274T>C	p.Tyr1092His \| p.Y1092H	LRG_663t1:c.3274T>C, NM_000492.3:c.3274T>C	VOUS	01/22/2018
393	CFTR	Ex20	NM_000492.3:c.3275A>G	p.Tyr1092Cys \| p.Y1092C	LRG_663t1:c.3275A>G, NM_000492.3:c.3275A>G	VOUS	03/01/2017
394	CFTR	Ex20	NM_000492.3:c.3276C>A	p.Tyr1092* \| p.Y1092X	LRG_663t1:c.3276C>A, NM_000492.3:c.3276C>A	Pathogenic	08/14/2018
395	CFTR	Ex20	NM_000492.3:c.3285A>T	p.Thr1095= \| p.T1095=	LRG_663t1:c.3285A>T, NM_000492.3:c.3285A>T	Benign	12/21/2015
396	CFTR	Ex20	NM_000492.3:c.3289C>T	p.Arg1097Cys \| p.R1097C	LRG_663t1:c.3289C>T, NM_000492.3:c.3289C>T	VOUS	05/16/2019
397	CFTR	Ex20	NM_000492.3:c.3297C>A	p.Phe1099Leu \| p.F1099L	LRG_663t1:c.3297C>A, NM_000492.3:c.3297C>A	VOUS	04/08/2016
398	CFTR	Ex20	NM_000492.3:c.3302T>A	p.Met1101Lys \| p.M1101K	LRG_663t1:c.3302T>A, NM_000492.3:c.3302T>A	Pathogenic	08/09/2019
399	CFTR	Ex20	NM_000492.3:c.3303G>A	p.Met1101Ile \| p.M1101I	LRG_663t1:c.3303G>A, NM_000492.3:c.3303G>A	VOUS	09/24/2018
400	CFTR	Ex20	NM_000492.3:c.3306A>G	p.Arg1102= \| p.R1102=	LRG_663t1:c.3306A>G, NM_000492.3:c.3306A>G	VOUS	08/13/2019
401	CFTR	Ex20	NM_000492.3:c.3367+45T>C		NM_000492.3:c.3367+45T>C	VOUS	**
402	CFTR	Ex21	NM_000492.3:c.3368-4A>G		LRG_663t1:c.3368-4A>G, NM_000492.3:c.3368-4A>G	VOUS	07/07/2017
403	CFTR	Ex21	NM_000492.3:c.3382A>G	p.Arg1128Gly \| p.R1128G	LRG_663t1:c.3382A>G, NM_000492.3:c.3382A>G	VOUS	07/28/2016
404	CFTR	Ex21	NM_000492.3:c.3407C>T	p.Ala1136Val \| p.A1136V	LRG_663t1:c.3407C>T, NM_000492.3:c.3407C>T	VOUS	02/02/2018
405	CFTR	Ex21	NM_000492.3:c.3409A>G	p.Met1137Val \| p.M1137V	LRG_663t1:c.3409A>G, NM_000492.3:c.3409A>G	VOUS	10/11/2019
406	CFTR	Ex21	NM_000492.3:c.3411G>C	p.Met1137Ile \| p.M1137I	LRG_663t1:c.3411G>C, NM_000492.3:c.3411G>C	VOUS	12/23/2019
407	CFTR	Ex21	NM_000492.3:c.3415A>G	p.Ile1139Val \| p.I1139V	LRG_663t1:c.3415A>G, NM_000492.3:c.3415A>G	VOUS	07/13/2018
408	CFTR	Ex21	NM_000492.3:c.3420G>A	p.Met1140Ile \| p.M1140I	LRG_663t1:c.3420G>A, NM_000492.3:c.3420G>A	VOUS	03/07/2019
409	CFTR	Ex21	NM_000492.3:c.3429G>A	p.Leu1143= \| p.L1143=	LRG_663t1:c.3429G>A, NM_000492.3:c.3429G>A	VOUS	12/04/2018
410	CFTR	Ex21	NM_000492.3:c.3454G>C	p.Asp1152His \| p.D1152H	LRG_663t1:c.3454G>C, NM_000492.3:c.3454G>C	Pathogenic	01/13/2020
411	CFTR	Ex21	NM_000492.3:c.3468G>A	p.Leu1156= \| p.L1156=	LRG_663t1:c.3468G>A	VOUS	12/11/2014
412	CFTR	Ex21	NM_000492.3:c.3468+2dupT		LRG_663t1:c.3468+2_3468+3insT, LRG_663t1:c.3468+2dupT, NM_000492.3:c.3468+2_3468+3insT, NM_000492.3:c.3468+2dupT	Likely pathogenic	12/27/2016
413	CFTR	Ex22	NM_000492.3:c.3469-20T>C		LRG_663t1:c.3469-20T>C, NM_000492.3:c.3469-20T>C	Benign	03/29/2019
414	CFTR	Ex22	NM_000492.3:c.3469-17T>C		LRG_663t1:c.3469-17T>C, NM_000492.3:c.3469-17T>C	VOUS	06/27/2019
415	CFTR	Ex22	NM_000492.3:c.3472C>T	p.Arg1158* \| p.R1158X	LRG_663t1:c.3472C>T, NM_000492.3:c.3472C>T	Pathogenic	10/29/2018
416	CFTR	Ex22	NM_000492.3:c.3485G>T	p.Arg1162Leu \| p.R1162L	LRG_663t1:c.3485G>T, NM_000492.3:c.3485G>T	VOUS	11/06/2019
417	CFTR	Ex22	NM_000492.3:c.3485G>A	p.Arg1162Gln \| p.R1162Q	LRG_663t1:c.3485G>A, NM_000492.3:c.3485G>A	VOUS	04/03/2018
418	CFTR	Ex22	NM_000492.3:c.3503A>G	p.Asp1168Gly \| p.D1168G	LRG_663t1:c.3503A>G, NM_000492.3:c.3503A>G	VOUS	05/30/2017
419	CFTR	Ex22	NM_000492.3:c.3508C>T	p.Pro1170Ser \| p.P1170S	LRG_663t1:c.3508C>T, NM_000492.3:c.3508C>T	VOUS	10/11/2018
420	CFTR	Ex22	NM_000492.3:c.3517G>A	p.Gly1173Ser \| p.G1173S	LRG_663t1:c.3517G>A, NM_000492.3:c.3517G>A	VOUS	09/26/2016
421	CFTR	Ex22	NM_000492.3:c.3528delC	p.Lys1177Serfs*15 \| p.K1177SfsX15	LRG_663t1:c.3528delC, NM_000492.3:c.3528delC	Pathogenic	03/13/2017
422	CFTR	Ex22	NM_000492.3:c.3558A>G	p.Gln1186= \| p.Q1186=	LRG_663t1:c.3558A>G, NM_000492.3:c.3558A>G	VOUS	10/03/2019
423	CFTR	Ex22	NM_000492.3:c.3564G>A	p.Ser1188= \| p.S1188=	LRG_663t1:c.3564G>A, NM_000492.3:c.3564G>A	VOUS	06/20/2013
424	CFTR	Ex22	NM_000492.3:c.3588A>T	p.Ser1196= \| p.S1196=	LRG_663t1:c.3588A>T, NM_000492.3:c.3588A>T	VOUS	08/30/2018
425	CFTR	Ex22	NM_000492.3:c.3607A>G	p.Ile1203Val \| p.I1203V	NM_000492.3:c.3607A>G	VOUS	01/23/2014
426	CFTR	Ex22	NM_000492.3:c.3612G>A	p.Trp1204* \| p.W1204X	LRG_663t1:c.3612G>A, NM_000492.3:c.3612G>A	Pathogenic	01/03/2013
427	CFTR	Ex22	NM_000492.3:c.3659C>T	p.Thr1220Ile \| p.T1220I	LRG_663t1:c.3659C>T, NM_000492.3:c.3659C>T	VOUS	04/19/2018
428	CFTR	Ex22	NM_000492.3:c.3665G>A	p.Gly1222Asp \| p.G1222D	LRG_663t1:c.3665G>A, NM_000492.3:c.3665G>A	VOUS	09/05/2017
429	CFTR	Ex22	NM_000492.3:c.3682G>C	p.Glu1228Gln \| p.E1228Q	LRG_663t1:c.3682G>C, NM_000492.3:c.3682G>C	VOUS	05/29/2019
430	CFTR	Ex22	NM_000492.3:c.3705T>G	p.Ser1235Arg \| p.S1235R	LRG_663t1:c.3705T>G, NM_000492.3:c.3705T>G	Benign	07/24/2012
431	CFTR	Ex22	NM_000492.3:c.3710G>A	p.Gly1237Asp \| p.G1237D	LRG_663t1:c.3710G>A, NM_000492.3:c.3710G>A	VOUS	09/17/2018
432	CFTR	Ex22	NM_000492.3:c.3713A>G	p.Gln1238Arg \| p.Q1238R	LRG_663t1:c.3713A>G, NM_000492.3:c.3713A>G	VOUS	07/31/2019
433	CFTR	Ex22	NM_000492.3:c.3717+40A>G		LRG_663t1:c.3717+40A>G, NM_000492.3:c.3717+40A>G	Likely pathogenic	08/31/2017
434	CFTR	Ex22	NM_000492.3:c.3717+45G>A		LRG_663t1:c.3717+45G>A, NM_000492.3:c.3717+45G>A	Benign	03/14/2019
435	CFTR	Ex22	NM_000492.3:c.3717+12191C>T		3849+10kb C>T, LRG_663t1:c.3718-2477C>T, NM_000492.3:c.3718-2477C>T	Pathogenic	01/03/2020
436	CFTR	Ex23	NM_000492.3:c.3718-2530A>G		LRG_663t1:c.3718-2530A>G, NM_000492.3:c.3718-2530A>G	Benign	10/26/2016
437	CFTR	Ex23	NM_000492.3:c.3718-2477C>T		LRG_663t1:c.3718-2477C>T, NM_000492.3:c.3718-2477C>T	Pathogenic	05/08/2017
438	CFTR	Ex23	NM_000492.3:c.3718-24G>A		LRG_663t1:c.3718-24G>A, NM_000492.3:c.3718-24G>A	VOUS	12/12/2018
439	CFTR	Ex23	NM_000492.3:c.3744delA	p.Lys1250Argfs*9 \| p.K1250RfsX9	LRG_663t1:c.3744delA, NM_000492.3:c.3744delA	Pathogenic	10/02/2018
440	CFTR	Ex23	NM_000492.3:c.3747G>A	p.Gly1249= \| p.G1249=	LRG_663t1:c.3747G>A, NM_000492.3:c.3747G>A	VOUS	01/15/2015
441	CFTR	Ex23	NM_000492.3:c.3761T>G	p.Leu1254* \| p.L1254X		Pathogenic	**
442	CFTR	Ex23	NM_000492.3:c.3762A>G	p.Leu1254= \| p.L1254=	LRG_663t1:c.3762A>G, NM_000492.3:c.3762A>G	VOUS	06/19/2019
443	CFTR	Ex23	NM_000492.3:c.3764C>A	p.Ser1255* \| p.S1255X		Pathogenic	**
444	CFTR	Ex23	NM_000492.3:c.3772T>C	p.Leu1258= \| p.L1258=	LRG_663t1:c.3772T>C, NM_000492.3:c.3772T>C	VOUS	06/26/2017
445	CFTR	Ex23	NM_000492.3:c.3794G>T	p.Gly1265Val \| p.G1265V	LRG_663t1:c.3794G>T, NM_000492.3:c.3794G>T	VOUS	06/08/2017
446	CFTR	Ex23	NM_000492.3:c.3808G>A	p.Asp1270Asn \| p.D1270N	LRG_663t1:c.3808G>A, NM_000492.3:c.3808G>A	VOUS	11/12/2019
447	CFTR	Ex23	NM_000492.3:c.3811G>A	p.Gly1271Ser \| p.G1271S		VOUS	12/26/2019
448	CFTR	Ex23	NM_000492.3:c.3815T>A	p.Val1272Glu \| p.V1272E	NM_000492.3:c.3815T>A	VOUS	04/23/2015
449	CFTR	Ex23	NM_000492.3:c.3836T>C	p.Leu1279Ser \| p.L1279S	LRG_663t1:c.3836T>C, NM_000492.3:c.3836T>C	VOUS	04/04/2018
450	CFTR	Ex23	NM_000492.3:c.3844T>C	p.Trp1282Arg \| p.W1282R	LRG_663t1:c.3844T>C, NM_000492.3:c.3844T>C	VOUS	12/05/2019
451	CFTR	Ex23	NM_000492.3:c.3846G>A	p.Trp1282* \| p.W1282X	LRG_663t1:c.3846G>A, NM_000492.3:c.3846G>A	Pathogenic	12/05/2019
452	CFTR	Ex23	NM_000492.3:c.3846G>C	p.Trp1282Cys \| p.W1282C	LRG_663t1:c.3846G>C, NM_000492.3:c.3846G>C	VOUS	08/15/2018
453	CFTR	Ex23	NM_000492.3:c.3852A>G	p.Lys1284= \| p.K1284=	LRG_663t1:c.3852A>G, NM_000492.3:c.3852A>G	VOUS	10/19/2017
454	CFTR	Ex23	NM_000492.3:c.3853G>A	p.Ala1285Thr \| p.A1285T	LRG_663t1:c.3853G>A, NM_000492.3:c.3853G>A	VOUS	10/10/2017
455	CFTR	Ex23	NM_000492.3:c.3854C>T	p.Ala1285Val \| p.A1285V	LRG_663t1:c.3854C>T, NM_000492.3:c.3854C>T	VOUS	02/01/2020
456	CFTR	Ex23	NM_000492.3:c.3870A>G	p.Pro1290= \| p.P1290=	LRG_663t1:c.3870A>G, NM_000492.3:c.3870A>G	Benign	11/01/2018
457	CFTR	Ex23	NM_000492.3:c.3873+7A>T		LRG_663t1:c.3873+7A>T, NM_000492.3:c.3873+7A>T	VOUS	09/20/2017
458	CFTR	Ex24	NM_000492.3:c.3874-4522A>G		LRG_663t1:c.3874-4522A>G, NM_000492.3:c.3874-4522A>G	Likely pathogenic	08/26/2019
459	CFTR	Ex24	NM_000492.3:c.3874-21_3874-15dupTTCTTTT		LRG_663t1:c.3874-15_3874-14insTTCTTTT, LRG_663t1:c.3874-21_3874-15dupTTCTTTT, LRG_663t1:c.3874-21_3874-15insTTCTTTT, NM_000492.3:c.3874-15_3874-14insTTCTTTT, NM_000492.3:c.3874-21_3874-15dupTTCTTTT, NM_000492.3:c.3874-21_3874-15insTTCTTTT	VOUS	02/22/2017
460	CFTR	Ex24	NM_000492.3:c.3874-14C>G			VOUS	12/10/2019
461	CFTR	Ex24	NM_000492.3:c.3874-14_3874-10delCTTTT		LRG_663t1:c.3874-14_3874-10delCTTTT, NM_000492.3:c.3874-14_3874-10delCTTTT	Likely benign	11/27/2018
462	CFTR	Ex24	NM_000492.3:c.3893G>T	p.Gly1298Val \| p.G1298V	LRG_663t1:c.3893G>T, NM_000492.3:c.3893G>T	VOUS	10/13/2017
463	CFTR	Ex24	NM_000492.3:c.3895A>G	p.Thr1299Ala \| p.T1299A	LRG_663t1:c.3895A>G, NM_000492.3:c.3895A>G	VOUS	09/06/2018
464	CFTR	Ex24	NM_000492.3:c.3897A>G	p.Thr1299= \| p.T1299=	LRG_663t1:c.3897A>G, NM_000492.3:c.3897A>G	Likely benign	01/11/2017
465	CFTR	Ex24	NM_000492.3:c.3909C>G	p.Asn1303Lys \| p.N1303K	LRG_663t1:c.3909C>G, NM_000492.3:c.3909C>G	Pathogenic	09/17/2019
466	CFTR	Ex24	NM_000492.3:c.3933T>G	p.Ser1311Arg \| p.S1311R	LRG_663t1:c.3933T>G, NM_000492.3:c.3933T>G	VOUS	09/27/2016
467	CFTR	Ex24	NM_000492.3:c.3963+6G>T			VOUS	01/21/2020
468	CFTR	Ex25	NM_000492.3:c.3964-16T>C		NM_000492.3:c.3964-16T>C	VOUS	08/25/2014
469	CFTR	Ex25	NM_000492.3:c.3983T>C	p.Ile1328Thr \| p.I1328T	LRG_663t1:c.3983T>C, NM_000492.3:c.3983T>C	VOUS	04/09/2019
470	CFTR	Ex25	NM_000492.3:c.3999delG		NM_000492.3:c.3999delG	Pathogenic	09/04/2015
471	CFTR	Ex25	NM_000492.3:c.4036C>T	p.Leu1346= \| p.L1346=	LRG_663t1:c.4036C>T, NM_000492.3:c.4036C>T	VOUS	11/15/2017
472	CFTR	Ex25	NM_000492.3:c.4045G>A	p.Gly1349Ser \| p.G1349S	LRG_663t1:c.4045G>A, NM_000492.3:c.4045G>A	VOUS	06/27/2017
473	CFTR	Ex25	NM_000492.3:c.4053_4054delGCinsAG	p.Gln1352Glu \| p.Q1352E	LRG_663t1:c.4053_4054delinsAG, NM_000492.3:c.4053_4054delinsAG	VOUS	09/21/2018
474	CFTR	Ex25	NM_000492.3:c.4056G>C	p.Gln1352His \| p.Q1352H	LRG_663t1:c.4056G>C, NM_000492.3:c.4056G>C	VOUS	01/16/2020
475	CFTR	Ex25	NM_000492.3:c.4058delT	p.Leu1353* \| p.L1353X	LRG_663t1:c.4058delT, NM_000492.3:c.4058delT	Pathogenic	02/23/2018
476	CFTR	Ex25	NM_000492.3:c.4077_4080delTGTTinsAA	p.Val1360Thrfs*3 \| p.V1360TfsX3	LRG_663t1:c.4077_4080delinsAA, NM_000492.3:c.4077_4080delinsAA	Pathogenic	**
477	CFTR	Ex25	NM_000492.3:c.4092G>A	p.Ala1364= \| p.A1364=	LRG_663t1:c.4092G>A, NM_000492.3:c.4092G>A	VOUS	07/12/2019
478	CFTR	Ex25	NM_000492.3:c.4097T>C	p.Ile1366Thr \| p.I1366T	LRG_663t1:c.4097T>C, NM_000492.3:c.4097T>C	VOUS	11/23/2019
479	CFTR	Ex25	NM_000492.3:c.4121C>G	p.Ala1374Gly \| p.A1374G	LRG_663t1:c.4121C>G, NM_000492.3:c.4121C>G	VOUS	02/17/2017
480	CFTR	Ex25	NM_000492.3:c.4123C>A	p.His1375Asn \| p.H1375N	LRG_663t1:c.4123C>A, NM_000492.3:c.4123C>A	VOUS	12/28/2017
481	CFTR	Ex25	NM_000492.3:c.4129G>C	p.Asp1377His \| p.D1377H	LRG_663t1:c.4129G>C, NM_000492.3:c.4129G>C	VOUS	06/23/2016
482	CFTR	Ex26	NM_000492.3:c.4159A>G	p.Thr1387Ala \| p.T1387A	LRG_663t1:c.4159A>G, NM_000492.3:c.4159A>G	VOUS	12/21/2017
483	CFTR	Ex26	NM_000492.3:c.4195C>G	p.Leu1399Val \| p.L1399V	LRG_663t1:c.4195C>G, NM_000492.3:c.4195C>G	VOUS	05/11/2018
484	CFTR	Ex26	NM_000492.3:c.4197C>G	p.Leu1399= \| p.L1399=	LRG_663t1:c.4197C>G, NM_000492.3:c.4197C>G	VOUS	05/02/2017
485	CFTR	Ex26	NM_000492.3:c.4197C>T	p.Leu1399= \| p.L1399=	LRG_663t1:c.4197C>T, NM_000492.3:c.4197C>T	VOUS	09/30/2019
486	CFTR	Ex26	NM_000492.3:c.4232A>C	p.Gln1411Pro \| p.Q1411P	LRG_663t1:c.4232A>C, NM_000492.3:c.4232A>C	VOUS	12/23/2019
487	CFTR	Ex26	NM_000492.3:c.4241T>C	p.Leu1414Ser \| p.L1414S	LRG_663t1:c.4241T>C, NM_000492.3:c.4241T>C	VOUS	02/01/2018
488	CFTR	Ex26	NM_000492.3:c.4242+10T>C		LRG_663t1:c.4242+10T>C, NM_000492.3:c.4242+10T>C	Benign	05/24/2013
489	CFTR	Ex26	NM_000492.3:c.4242+13A>G			Benign	04/29/2013
490	CFTR	Ex27	NM_000492.3:c.*2G>A		LRG_663t1:c.2G>A, NM_000492.3:c.2G>A	VOUS	05/21/2019
491	CFTR	Ex27	NM_000492.3:c.*10T>A		LRG_663t1:c.10T>A, NM_000492.3:c.10T>A	VOUS	**
492	CFTR	Ex27	NM_000492.3:c.*1043A>C		LRG_663t1:c.1043A>C, NM_000492.3:c.1043A>C	Benign	03/28/2017
493	CFTR	Ex27	NM_000492.3:c.4243-20A>G		LRG_663t1:c.4243-20A>G, NM_000492.3:c.4243-20A>G	VOUS	06/05/2019
494	CFTR	Ex27	NM_000492.3:c.4243-5C>T		LRG_663t1:c.4243-5C>T, NM_000492.3:c.4243-5C>T	Benign	08/25/2015
495	CFTR	Ex27	NM_000492.3:c.4251delA	p.Glu1418Argfs*14 \| p.E1418RfsX14	LRG_663t1:c.4251delA, NM_000492.3:c.4251delA	Pathogenic	10/26/2017
496	CFTR	Ex27	NM_000492.3:c.4252delG	p.Glu1418Argfs*14 \| p.E1418RfsX14	LRG_663t1:c.4252delG, NM_000492.3:c.4252delG	Pathogenic	12/21/2018
497	CFTR	Ex27	NM_000492.3:c.4272C>T	p.Tyr1424= \| p.Y1424=	LRG_663t1:c.4272C>T, NM_000492.3:c.4272C>T	Benign	11/14/2017
498	CFTR	Ex27	NM_000492.3:c.4296C>T	p.Asn1432= \| p.N1432=	LRG_663t1:c.4296C>T, NM_000492.3:c.4296C>T	VOUS	02/07/2020
499	CFTR	Ex27	NM_000492.3:c.4322T>C	p.Ile1441Thr \| p.I1441T	NM_000492.3:c.4322T>C	VOUS	06/26/2015
500	CFTR	Ex27	NM_000492.3:c.4332C>T	p.Ser1444= \| p.S1444=	LRG_663t1:c.4332C>T, NM_000492.3:c.4332C>T	VOUS	05/09/2017
501	CFTR	Ex27	NM_000492.3:c.4333G>A	p.Asp1445Asn \| p.D1445N	LRG_663t1:c.4333G>A, NM_000492.3:c.4333G>A	VOUS	04/08/2019
502	CFTR	Ex27	NM_000492.3:c.4357C>T	p.Arg1453Trp \| p.R1453W	LRG_663t1:c.4357C>T, NM_000492.3:c.4357C>T	VOUS	12/03/2019
503	CFTR	Ex27	NM_000492.3:c.4358G>A	p.Arg1453Gln \| p.R1453Q	LRG_663t1:c.4358G>A, NM_000492.3:c.4358G>A	VOUS	08/21/2019
504	CFTR	Ex27	NM_000492.3:c.4383G>T	p.Lys1461Asn \| p.K1461N	LRG_663t1:c.4383G>T, NM_000492.3:c.4383G>T	VOUS	12/20/2017
505	CFTR	Ex27	NM_000492.3:c.4387C>T	p.Gln1463* \| p.Q1463X	LRG_663t1:c.4387C>T, NM_000492.3:c.4387C>T	VOUS	08/15/2016
506	CFTR	Ex27	NM_000492.3:c.4389G>A	p.Gln1463= \| p.Q1463=	LRG_663t1:c.4389G>A, NM_000492.3:c.4389G>A	Benign	11/20/2018
507	CFTR	Ex27	NM_000492.3:c.4417G>A	p.Glu1473Lys \| p.E1473K	LRG_663t1:c.4417G>A, NM_000492.3:c.4417G>A	VOUS	05/05/2017
508	CFTR	Ex27	NM_000492.3:c.4426C>T	p.Gln1476* \| p.Q1476X	LRG_663t1:c.4426C>T, NM_000492.3:c.4426C>T	Pathogenic	05/15/2018
509	CFTR	Ex27	NM_000492.3:c.4427A>G	p.Gln1476Arg \| p.Q1476R	LRG_663t1:c.4427A>G, NM_000492.3:c.4427A>G	VOUS	01/30/2020
510	CFTR	Ex27	NM_000492.3:c.4436G>A	p.Arg1479Lys \| p.R1479K	LRG_663t1:c.4436G>A, NM_000492.3:c.4436G>A	VOUS	12/19/2019

* Review is pending
** Variant has not been reviewed since the launch of this product (6/15/2012)

URL Parameter Syntax

EmVClass may be automatically searched using the argument [approved_symbol] such as in the example link for the gene CFTR: https://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR

Download

EmVClass data for all genes and variants that have been seen and analyzed by EGL Genetics may be downloaded as a CSV plain text file which is designated to be updated quarterly. Data is subject to change and format is subject to modification.

EmVClass.2020-Q1.csv

Disclaimer

The interpretation of nucleotide changes is based on our current understanding of the variant at the time it was observed in a clinical case. Interpretations may not be current. Some data may not be represented. These interpretations may change over time as more information about the genes becomes available. The data presented here are not intended for clinical use outside of the context of an official EGL clinical report and should be approached with caution. Only variants identified at EGL are listed in the EmVClass. If you intend to use EGL's classification for publication purposes please contact the laboratory for permission.

Nucleotide Changes		Protein Changes
Nucleotide changes may be entered with or without the 'c.' notation.		Protein changes may be entered with or without the 'p.' notation.
Class:	snp, del, ins, dup	Residue:	<amino acid residue number>
cDNA Position:	<base position number>	Substitutions:	Gln177* or Q177* Tyr296Ser or Y296S
Substitutions:	683C>G 27-8C>G 377+28A>G *9G>A
Deletions:	1048_1050delAGC or 1048_1050del
Insertions:	1048_1050delAGC or 1048_1050del
Duplications:	317_319dupTCA or 317_319dup
Insertion/Deletions:	1117_1119delAAGinsCT or 1117_1119delinsCT





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