MCID: CYS027
MIFTS: 31

Cystic Fibrosis Lung Disease, Modifier of malady

Genetic diseases (common), Respiratory diseases categories
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Summaries for Cystic Fibrosis Lung Disease, Modifier of

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MalaCards based summary: Cystic Fibrosis Lung Disease, Modifier of is related to cftr-related disorders and cystic fibrosis. An important gene associated with Cystic Fibrosis Lung Disease, Modifier of is TGFB1 (transforming growth factor, beta 1), and among its related pathways is Cytokine production by Th17 cells in CF. The compounds sildenafil and amiloride have been mentioned in the context of this disorder. Affiliated tissues include lung, and related mouse phenotypes are craniofacial and digestive/alimentary.

Description from OMIM:46 219700

Aliases & Classifications for Cystic Fibrosis Lung Disease, Modifier of

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Cystic Fibrosis Lung Disease, Modifier of, Aliases & Descriptions:

Name: Cystic Fibrosis Lung Disease, Modifier of 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Respiratory diseases


Related Diseases for Cystic Fibrosis Lung Disease, Modifier of

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Diseases related to Cystic Fibrosis Lung Disease, Modifier of via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1cftr-related disorders10.4CFTR
2cystic fibrosis10.3CFTR
3pancreatitis, chronic10.0TGFB1, CFTR
4pancreatitis10.0TGFB1, CFTR
5chronic obstructive pulmonary disease10.0TGFB1, CFTR
6proteinuria10.0CFTR, TGFB1
7osteoporosis10.0TGFB1, CFTR
8cork-handlers' disease10.0CFTR, TGFB1
9pneumonia9.9CFTR, TGFB1
10primary hyperoxaluria9.9CFTR, TGFB1
11colonic benign neoplasm9.9CFTR, TGFB1
12leukemia9.9TGFB1, CFTR
13pancreatic cancer9.8TGFB1, CFTR
14melanoma9.8CFTR, TGFB1

Graphical network of diseases related to Cystic Fibrosis Lung Disease, Modifier of:



Diseases related to cystic fibrosis lung disease, modifier of

Symptoms for Cystic Fibrosis Lung Disease, Modifier of

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Clinical features from OMIM:

219700

Drugs & Therapeutics for Cystic Fibrosis Lung Disease, Modifier of

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Drug clinical trials:

Search ClinicalTrials for Cystic Fibrosis Lung Disease, Modifier of

Search NIH Clinical Center for Cystic Fibrosis Lung Disease, Modifier of

Genetic Tests for Cystic Fibrosis Lung Disease, Modifier of

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Anatomical Context for Cystic Fibrosis Lung Disease, Modifier of

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MalaCards organs/tissues related to Cystic Fibrosis Lung Disease, Modifier of:

32
Lung

Animal Models for Cystic Fibrosis Lung Disease, Modifier of or affiliated genes

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MGI Mouse Phenotypes related to Cystic Fibrosis Lung Disease, Modifier of:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1TGFB1, CFTR
2MP:00053819.1TGFB1, CFTR
3MP:00053709.0TGFB1, CFTR
4MP:00053888.8TGFB1, CFTR

Publications for Cystic Fibrosis Lung Disease, Modifier of

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Variations for Cystic Fibrosis Lung Disease, Modifier of

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UniProtKB/Swiss-Prot genetic disease variations for Cystic Fibrosis Lung Disease, Modifier of:

64 (show all 133)
id Symbol AA change Variation ID SNP ID
1CFTRp.Ser13PheVAR_000101
2CFTRp.Arg31LeuVAR_000103
3CFTRp.Ser42PheVAR_000104
4CFTRp.Asp44GlyVAR_000105
5CFTRp.Trp57GlyVAR_000108
6CFTRp.Pro67LeuVAR_000109
7CFTRp.Arg74TrpVAR_000110rs115545701
8CFTRp.Gly85GluVAR_000112
9CFTRp.Phe87LeuVAR_000113
10CFTRp.Gly91ArgVAR_000114
11CFTRp.Glu92LysVAR_000115
12CFTRp.Gln98ArgVAR_000116
13CFTRp.Ile105SerVAR_000117
14CFTRp.Tyr109CysVAR_000118
15CFTRp.Asp110HisVAR_000119
16CFTRp.Arg117CysVAR_000121
17CFTRp.Arg117HisVAR_000122
18CFTRp.Arg117LeuVAR_000123
19CFTRp.Arg117ProVAR_000124
20CFTRp.Ala120ThrVAR_000125
21CFTRp.His139ArgVAR_000126
22CFTRp.Ala141AspVAR_000127
23CFTRp.Ile148ThrVAR_000128rs35516286
24CFTRp.Gly178ArgVAR_000130
25CFTRp.Glu193LysVAR_000132
26CFTRp.His199GlnVAR_000133
27CFTRp.His199TyrVAR_000134
28CFTRp.Pro205SerVAR_000135
29CFTRp.Leu206TrpVAR_000136
30CFTRp.Cys225ArgVAR_000137
31CFTRp.Asn287TyrVAR_000140
32CFTRp.Arg297GlnVAR_000141
33CFTRp.Tyr301CysVAR_000142rs150691494
34CFTRp.Ser307AsnVAR_000143
35CFTRp.Phe311LeuVAR_000144
36CFTRp.Gly314GluVAR_000146
37CFTRp.Gly314ArgVAR_000147
38CFTRp.Arg334TrpVAR_000148rs121909011
39CFTRp.Ile336LysVAR_000150
40CFTRp.Thr338IleVAR_000151
41CFTRp.Leu346ProVAR_000152
42CFTRp.Arg347HisVAR_000153
43CFTRp.Arg347LeuVAR_000154
44CFTRp.Arg347ProVAR_000155
45CFTRp.Arg352GlnVAR_000156
46CFTRp.Gln359LysVAR_000157
47CFTRp.Ala455GluVAR_000160
48CFTRp.Val456PheVAR_000161
49CFTRp.Gly458ValVAR_000162
50CFTRp.Gly480CysVAR_000165
51CFTRp.Ser492PheVAR_000166
52CFTRp.Glu504GlnVAR_000167
53CFTRp.Val520PheVAR_000174rs77646904
54CFTRp.Ser549AsnVAR_000176
55CFTRp.Ser549IleVAR_000177
56CFTRp.Ser549ArgVAR_000178
57CFTRp.Gly551AspVAR_000179
58CFTRp.Gly551SerVAR_000180
59CFTRp.Arg553GlnVAR_000181
60CFTRp.Leu558SerVAR_000182
61CFTRp.Ala559ThrVAR_000183
62CFTRp.Arg560LysVAR_000184
63CFTRp.Arg560SerVAR_000185
64CFTRp.Arg560ThrVAR_000186
65CFTRp.Val562LeuVAR_000188rs1800097
66CFTRp.Tyr563AsnVAR_000189
67CFTRp.Tyr569CysVAR_000190
68CFTRp.Tyr569AspVAR_000191
69CFTRp.Tyr569HisVAR_000192
70CFTRp.Leu571SerVAR_000193
71CFTRp.Asp572AsnVAR_000194
72CFTRp.Pro574HisVAR_000195
73CFTRp.Asp579GlyVAR_000197
74CFTRp.Ile601PheVAR_000198
75CFTRp.Leu610SerVAR_000199
76CFTRp.Ala613ThrVAR_000200rs201978662
77CFTRp.Asp614GlyVAR_000201rs201124247
78CFTRp.Ile618ThrVAR_000202
79CFTRp.Leu619SerVAR_000203
80CFTRp.His620ProVAR_000204
81CFTRp.His620GlnVAR_000205
82CFTRp.Gly628ArgVAR_000207
83CFTRp.Leu633ProVAR_000208
84CFTRp.Asp648ValVAR_000209
85CFTRp.Asp651AsnVAR_000210
86CFTRp.Thr665SerVAR_000211
87CFTRp.Val754MetVAR_000214rs150157202
88CFTRp.Glu822LysVAR_000219
89CFTRp.Cys866TyrVAR_000221
90CFTRp.Tyr913CysVAR_000223
91CFTRp.Tyr917CysVAR_000224
92CFTRp.His949TyrVAR_000225
93CFTRp.Met952IleVAR_000226
94CFTRp.Leu997PheVAR_000227rs1800111
95CFTRp.Ile1005ArgVAR_000228
96CFTRp.Ala1006GluVAR_000229
97CFTRp.Pro1013LeuVAR_000230
98CFTRp.Met1028IleVAR_000231
99CFTRp.Phe1052ValVAR_000232
100CFTRp.Gly1061ArgVAR_000233rs142394380
101CFTRp.Leu1065ProVAR_000234
102CFTRp.Leu1065ArgVAR_000235
103CFTRp.Arg1066CysVAR_000236
104CFTRp.Arg1066HisVAR_000237
105CFTRp.Arg1066LeuVAR_000238
106CFTRp.Ala1067ThrVAR_000239
107CFTRp.Arg1070GlnVAR_000241
108CFTRp.Arg1070ProVAR_000242
109CFTRp.Gln1071ProVAR_000243
110CFTRp.Pro1072LeuVAR_000244
111CFTRp.Leu1077ProVAR_000245
112CFTRp.His1085ArgVAR_000246
113CFTRp.Trp1098ArgVAR_000247
114CFTRp.Met1101LysVAR_000248rs36210737
115CFTRp.Met1137ValVAR_000249
116CFTRp.Asp1152HisVAR_000251
117CFTRp.Ile1234ValVAR_000254
118CFTRp.Ser1235ArgVAR_000255rs34911792
119CFTRp.Gly1244GluVAR_000256
120CFTRp.Gly1249GluVAR_000257
121CFTRp.Ser1251AsnVAR_000258
122CFTRp.Ser1255ProVAR_000259
123CFTRp.Asp1270AsnVAR_000260rs11971167
124CFTRp.Trp1282ArgVAR_000261
125CFTRp.Arg1283MetVAR_000262
126CFTRp.Phe1286SerVAR_000263
127CFTRp.Gln1291HisVAR_000264
128CFTRp.Gln1291ArgVAR_000265
129CFTRp.Asn1303HisVAR_000266
130CFTRp.Asn1303LysVAR_000267rs80034486
131CFTRp.Gly1349AspVAR_000268
132CFTRp.Val1397GluVAR_000270
133CFTRp.Met1101ArgVAR_011565

Clinvar genetic disease variations for Cystic Fibrosis Lung Disease, Modifier of:

6 (show all 267)
id Gene Name Type Significance SNP ID Assembly Location
1TGFB1NM_000660.5(TGFB1): c.29C> T (p.Pro10Leu)single nucleotide variantrisk factorrs1800470GRCh37Chr 19, 41858921: 41858921
2CFTRNM_000492.3(CFTR): c.1054C> T (p.Arg352Trp)single nucleotide variantLikely pathogenicrs193922497GRCh37Chr 7, 117180338: 117180338
3CFTRNM_000492.3(CFTR): c.114C> G (p.Tyr38Ter)single nucleotide variantLikely pathogenicrs193922498GRCh37Chr 7, 117144367: 117144367
4CFTRNM_000492.3(CFTR): c.125C> T (p.Ser42Phe)single nucleotide variantLikely pathogenicrs143456784GRCh37Chr 7, 117144378: 117144378
5CFTRNM_000492.3(CFTR): c.1367T> C (p.Val456Ala)single nucleotide variantLikely pathogenicrs193922500GRCh37Chr 7, 117188852: 117188852
6CFTRNM_000492.3(CFTR): c.1397C> G (p.Ser466Ter)single nucleotide variantPathogenicrs121908805GRCh37Chr 7, 117199522: 117199522
7CFTRNM_000492.3(CFTR): c.1400T> C (p.Leu467Pro)single nucleotide variantLikely pathogenicrs139573311GRCh37Chr 7, 117199525: 117199525
8CFTRNM_000492.3(CFTR): c.14C> T (p.Pro5Leu)single nucleotide variantLikely pathogenicrs193922501GRCh37Chr 7, 117120162: 117120162
9CFTRNM_000492.3(CFTR): c.1558G> A (p.Val520Ile)single nucleotide variantLikely pathogenicrs77646904GRCh37Chr 7, 117199683: 117199683
10CFTRNM_000492.3(CFTR): c.1585-8G> Asingle nucleotide variantPathogenicrs193922503GRCh37Chr 7, 117227785: 117227785
11CFTRNM_000492.3(CFTR): c.1673T> C (p.Leu558Ser)single nucleotide variantLikely pathogenicrs193922504GRCh37Chr 7, 117227881: 117227881
12CFTRNM_000492.3(CFTR): c.1692delA (p.Asp565Metfs)deletionLikely pathogenicrs193922505GRCh37Chr 7, 117230419: 117230419
13CFTRNM_000492.3(CFTR): c.1731C> T (p.Tyr577=)single nucleotide variantLikely pathogenicrs55928397GRCh37Chr 7, 117230458: 117230458
14CFTRNM_000492.3(CFTR): c.1865G> A (p.Gly622Asp)single nucleotide variantLikely pathogenicrs121908759GRCh37Chr 7, 117232086: 117232086
15CFTRNM_000492.3(CFTR): c.1911delG (p.Gln637Hisfs)deletionPathogenicrs121908778GRCh37Chr 7, 117232132: 117232132
16CFTRNM_000492.3(CFTR): c.2012delT (p.Leu671Terfs)deletionPathogenicrs121908812GRCh37Chr 7, 117232233: 117232233
17CFTRNM_000492.3(CFTR): c.2051_2052delAAinsG (p.Lys684Serfs)indelPathogenicrs121908799GRCh37Chr 7, 117232272: 117232273
18CFTRNM_000492.3(CFTR): c.2052dupA (p.Gln685Thrfs)duplicationPathogenicrs121908786GRCh37Chr 7, 117232273: 117232274
19CFTRNM_000492.3(CFTR): c.2374C> G (p.Arg792Gly)single nucleotide variantLikely pathogenicrs145449046GRCh37Chr 7, 117232595: 117232595
20CFTRNM_000492.3(CFTR): c.2597G> A (p.Cys866Tyr)single nucleotide variantLikely pathogenicrs193922506GRCh37Chr 7, 117235090: 117235090
21CFTRNM_000492.3(CFTR): c.273+3A> Csingle nucleotide variantLikely pathogenicrs74467662GRCh37Chr 7, 117149199: 117149199
22CFTRNM_000492.3(CFTR): c.2768C> A (p.Ala923Asp)single nucleotide variantLikely pathogenicrs193922509GRCh37Chr 7, 117243696: 117243696
23CFTRNM_000492.3(CFTR): c.2810dupT (p.Val938Glyfs)duplicationLikely pathogenicrs193922510GRCh37Chr 7, 117243738: 117243739
24CFTRNM_000492.3(CFTR): c.2813T> G (p.Val938Gly)single nucleotide variantLikely pathogenicrs193922511GRCh37Chr 7, 117243741: 117243741
25CFTRNM_000492.3(CFTR): c.2909G> A (p.Gly970Asp)single nucleotide variantLikely pathogenicrs386134230GRCh37Chr 7, 117246728: 117246728
26CFTRNM_000492.3(CFTR): c.2932A> T (p.Lys978Ter)single nucleotide variantLikely pathogenicrs193922514GRCh37Chr 7, 117246751: 117246751
27CFTRNM_000492.3(CFTR): c.2988G> A (p.Gln996=)single nucleotide variantPathogenicrs121908797GRCh37Chr 7, 117246807: 117246807
28CFTRNM_000492.3(CFTR): c.2989-2A> Tsingle nucleotide variantLikely pathogenicrs193922515GRCh37Chr 7, 117250571: 117250571
29CFTRNM_000492.3(CFTR): c.3038C> A (p.Pro1013His)single nucleotide variantLikely pathogenicrs193922516GRCh37Chr 7, 117250622: 117250622
30CFTRNM_000492.3(CFTR): c.3095A> G (p.Tyr1032Cys)single nucleotide variantLikely pathogenicrs144055758GRCh37Chr 7, 117250679: 117250679
31CFTRNM_000492.3(CFTR): c.3140-26A> Gsingle nucleotide variantPathogenicrs76151804GRCh37Chr 7, 117251609: 117251609
32CFTRNM_000492.3(CFTR): c.3154T> G (p.Phe1052Val)single nucleotide variantLikely pathogenicrs150212784GRCh37Chr 7, 117251649: 117251649
33CFTRNM_000492.3(CFTR): c.3209G> A (p.Arg1070Gln)single nucleotide variantPathogenicrs78769542GRCh37Chr 7, 117251704: 117251704
34CFTRNM_000492.3(CFTR): c.3454G> C (p.Asp1152His)single nucleotide variantPathogenicrs75541969GRCh37Chr 7, 117254753: 117254753
35CFTRNM_000492.3(CFTR): c.3528delC (p.Lys1177Serfs)deletionPathogenicrs121908747GRCh37Chr 7, 117267635: 117267635
36CFTRNM_000492.3(CFTR): c.355A> G (p.Ile119Val)single nucleotide variantLikely pathogenicrs193922518GRCh37Chr 7, 117171034: 117171034
37CFTRNM_000492.3(CFTR): c.3691delT (p.Ser1231Profs)deletionLikely pathogenicrs121908783GRCh37Chr 7, 117267798: 117267798
38CFTRNM_000492.3(CFTR): c.370G> C (p.Gly124Arg)single nucleotide variantLikely pathogenicrs193922519GRCh37Chr 7, 117171049: 117171049
39CFTRNM_000492.3(CFTR): c.3717+5G> Asingle nucleotide variantLikely pathogenicrs193922520GRCh37Chr 7, 117267829: 117267829
40CFTRNM_000492.3(CFTR): c.380_382dupTAT (p.Leu127_Cys128insLeu)duplicationLikely pathogenicrs193922521GRCh37Chr 7, 117171059: 117171061
41CFTRNM_000492.3(CFTR): c.3893G> C (p.Gly1298Ala)single nucleotide variantLikely pathogenicrs193922522GRCh37Chr 7, 117292915: 117292915
42CFTRNM_000492.3(CFTR): c.3957_3958insAGGG (p.Asp1320Argfs)insertionLikely pathogenicrs193922523GRCh37Chr 7, 117292979: 117292980
43CFTRNM_000492.3(CFTR): c.3997G> T (p.Gly1333Trp)single nucleotide variantLikely pathogenicrs193922524GRCh37Chr 7, 117304775: 117304775
44CFTRNM_000492.3(CFTR): c.4046G> A (p.Gly1349Asp)single nucleotide variantPathogenicrs193922525GRCh37Chr 7, 117304824: 117304824
45CFTRNM_000492.3(CFTR): c.4242+2T> Csingle nucleotide variantLikely pathogenicrs193922526GRCh37Chr 7, 117305620: 117305620
46CFTRNM_000492.3(CFTR): c.4280T> C (p.Ile1427Thr)single nucleotide variantLikely pathogenicrs193922528GRCh37Chr 7, 117306999: 117306999
47CFTRNM_000492.3(CFTR): c.592G> A (p.Ala198Thr)single nucleotide variantLikely pathogenicrs193922529GRCh37Chr 7, 117175314: 117175314
48CFTRNM_000492.3(CFTR): c.825C> G (p.Tyr275Ter)single nucleotide variantLikely pathogenicrs193922532GRCh37Chr 7, 117176683: 117176683
49CFTRNM_000492.3(CFTR): c.846A> T (p.Glu282Asp)single nucleotide variantLikely pathogenicrs142864834GRCh37Chr 7, 117176704: 117176704
50CFTRNM_000492.3(CFTR): c.853A> T (p.Ile285Phe)single nucleotide variantLikely pathogenicrs151073129GRCh37Chr 7, 117176711: 117176711
51CFTRNM_000492.3(CFTR): c.958T> G (p.Leu320Val)single nucleotide variantLikely pathogenicrs144476686GRCh37Chr 7, 117180242: 117180242
52CFTRNM_000492.3(CFTR): c.997C> T (p.Leu333Phe)single nucleotide variantLikely pathogenicrs193922533GRCh37Chr 7, 117180281: 117180281
53CFTRNM_000492.3(CFTR): c.3067_3072delATAGTG (p.Ile1023_Val1024del)deletionPathogenicrs121908767GRCh37Chr 7, 117250651: 117250656
54CFTRNM_000492.3(CFTR): c.2052delA (p.Lys684Asnfs)deletionPathogenicrs121908746GRCh37Chr 7, 117232273: 117232273
55CFTRNM_000492.3(CFTR): c.579+1G> Tsingle nucleotide variantPathogenicrs77188391GRCh37Chr 7, 117174420: 117174420
56CFTRNM_000492.3(CFTR): c.2657+5G> Asingle nucleotide variantPathogenicrs80224560GRCh37Chr 7, 117242922: 117242922
57CFTRNM_000492.3(CFTR): c.3773dupT (p.Leu1258Phefs)duplicationPathogenicrs121908789GRCh37Chr 7, 117282547: 117282547
58CFTRNM_000492.3(CFTR): c.3276C> A (p.Tyr1092Ter)single nucleotide variantPathogenicrs121908761GRCh37Chr 7, 117251771: 117251771
59CFTRNM_000492.3(CFTR): c.178G> T (p.Glu60Ter)single nucleotide variantPathogenicrs77284892GRCh37Chr 7, 117149101: 117149101
60CFTRNM_000492.3(CFTR): c.1645A> C (p.Ser549Arg)single nucleotide variantPathogenicrs121908757GRCh37Chr 7, 117227853: 117227853
61CFTRNM_000492.3(CFTR): c.1923_1931delCTCAAAACTinsA (p.Ser641Argfs)indelPathogenicrs121908779GRCh37Chr 7, 117232144: 117232152
62CFTRNM_000492.3(CFTR): c.489+1G> Tsingle nucleotide variantPathogenicrs78756941GRCh37Chr 7, 117171169: 117171169
63CFTRNM_000492.3(CFTR): c.366T> A (p.Tyr122Ter)single nucleotide variantPathogenicrs79660178GRCh37Chr 7, 117171045: 117171045
64CFTRNM_000492.3(CFTR): c.3302T> A (p.Met1101Lys)single nucleotide variantPathogenicrs36210737GRCh37Chr 7, 117251797: 117251797
65CFTRNM_000492.3(CFTR): c.3276C> G (p.Tyr1092Ter)single nucleotide variantPathogenicrs121908761GRCh37Chr 7, 117251771: 117251771
66CFTRNM_000492.3(CFTR): c.1647T> G (p.Ser549Arg)single nucleotide variantPathogenicrs121909005GRCh37Chr 7, 117227855: 117227855
67CFTRNM_000492.3(CFTR): c.1075C> A (p.Gln359Lys)single nucleotide variantPathogenicrs76879328GRCh37Chr 7, 117180359: 117180359
68CFTRNM_000492.3(CFTR): c.223C> T (p.Arg75Ter)single nucleotide variantPathogenicrs121908749GRCh37Chr 7, 117149146: 117149146
69CFTRNM_000492.3(CFTR): c.3587C> G (p.Ser1196Ter)single nucleotide variantPathogenicrs121908763GRCh37Chr 7, 117267694: 117267694
70CFTRNM_000492.3(CFTR): c.274-1G> Asingle nucleotide variantPathogenicrs121908792GRCh37Chr 7, 117170952: 117170952
71CFTRNM_000492.3(CFTR): c.1680-1G> Asingle nucleotide variantPathogenicrs121908794GRCh37Chr 7, 117230406: 117230406
72CFTRNM_000492.3(CFTR): c.313delA (p.Ile105Serfs)deletionPathogenicrs121908801GRCh37Chr 7, 117170992: 117170992
73CFTRNM_000492.3(CFTR): c.1766+5G> Tsingle nucleotide variantPathogenicrs121908796GRCh37Chr 7, 117230498: 117230498
74CFTRNM_000492.3(CFTR): c.349C> T (p.Arg117Cys)single nucleotide variantPathogenicrs77834169GRCh37Chr 7, 117171028: 117171028
75CFTRNM_000492.3(CFTR): c.532G> A (p.Gly178Arg)single nucleotide variantPathogenicrs80282562GRCh37Chr 7, 117174372: 117174372
76CFTRNM_000492.3(CFTR): c.803delA (p.Asn268Ilefs)deletionPathogenicrs121908772GRCh37Chr 7, 117176661: 117176661
77CFTRNM_000492.3(CFTR): c.935_937delTCT (p.Phe312del)deletionPathogenicrs121908768GRCh37Chr 7, 117180219: 117180221
78CFTRNM_000492.3(CFTR): c.988G> T (p.Gly330Ter)single nucleotide variantPathogenicrs79031340GRCh37Chr 7, 117180272: 117180272
79CFTRNM_000492.3(CFTR): c.1090T> C (p.Ser364Pro)single nucleotide variantPathogenicrs78909279GRCh37Chr 7, 117180374: 117180374
80CFTRNM_000492.3(CFTR): c.1007T> A (p.Ile336Lys)single nucleotide variantPathogenicrs397508139GRCh37Chr 7, 117180291: 117180291
81CFTRNM_000492.3(CFTR): c.1021T> C (p.Ser341Pro)single nucleotide variantPathogenicrs397508144GRCh37Chr 7, 117180305: 117180305
82CFTRNM_000492.3(CFTR): c.1022_1023insTC (p.Phe342Hisfs)insertionPathogenicrs387906360GRCh37Chr 7, 117180306: 117180307
83CFTRNM_000492.3(CFTR): c.1116+1G> Asingle nucleotide variantPathogenicrs397508158GRCh37Chr 7, 117180401: 117180401
84CFTRNM_000492.3(CFTR): c.1128dupA (p.Gln378Alafs)duplicationPathogenicrs397508163GRCh37Chr 7, 117182080: 117182081
85CFTRNM_000492.3(CFTR): c.115C> T (p.Gln39Ter)single nucleotide variantPathogenicrs397508168GRCh37Chr 7, 117144368: 117144368
86CFTRNM_000492.3(CFTR): c.1202G> A (p.Trp401Ter)single nucleotide variantPathogenicrs397508174GRCh37Chr 7, 117182155: 117182155
87CFTRNM_000492.3(CFTR): c.1203G> A (p.Trp401Ter)single nucleotide variantPathogenicrs397508175GRCh37Chr 7, 117182156: 117182156
88CFTRNM_000492.3(CFTR): c.1209+1G> Asingle nucleotide variantPathogenicrs397508176GRCh37Chr 7, 117182163: 117182163
89CFTRNM_000492.3(CFTR): c.1327G> T (p.Asp443Tyr)single nucleotide variantPathogenicrs147422190GRCh37Chr 7, 117188812: 117188812
90CFTRNM_000492.3(CFTR): c.1329_1330insAGAT (p.Ile444Argfs)insertionPathogenicrs397508189GRCh37Chr 7, 117188814: 117188815
91CFTRNM_000492.3(CFTR): c.1393-1G> Asingle nucleotide variantPathogenicrs397508200GRCh37Chr 7, 117199517: 117199517
92CFTRNM_000492.3(CFTR): c.1397C> A (p.Ser466Ter)single nucleotide variantPathogenicrs121908805GRCh37Chr 7, 117199522: 117199522
93CFTRNM_000492.3(CFTR): c.1466C> A (p.Ser489Ter)single nucleotide variantPathogenicrs397508211GRCh37Chr 7, 117199591: 117199591
94CFTRNM_000492.3(CFTR): c.1753G> T (p.Glu585Ter)single nucleotide variantPathogenicrs397508296GRCh37Chr 7, 117230480: 117230480
95CFTRNM_000492.3(CFTR): c.1766+3A> Gsingle nucleotide variantPathogenicrs397508298GRCh37Chr 7, 117230496: 117230496
96CFTRNM_000492.3(CFTR): c.1853T> C (p.Ile618Thr)single nucleotide variantPathogenicrs139468767GRCh37Chr 7, 117232074: 117232074
97CFTRNM_000492.3(CFTR): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs397508328GRCh37Chr 7, 117120149: 117120149
98CFTRNM_000492.3(CFTR): c.200C> T (p.Pro67Leu)single nucleotide variantPathogenicrs368505753GRCh37Chr 7, 117149123: 117149123
99CFTRNM_000492.3(CFTR): c.2125C> T (p.Arg709Ter)single nucleotide variantPathogenicrs121908760GRCh37Chr 7, 117232346: 117232346
100CFTRNM_000492.3(CFTR): c.2195T> G (p.Leu732Ter)single nucleotide variantPathogenicrs397508350GRCh37Chr 7, 117232416: 117232416
101CFTRNM_000492.3(CFTR): c.2215delG (p.Val739Tyrfs)deletionPathogenicrs397508353GRCh37Chr 7, 117232436: 117232436
102CFTRNM_000492.3(CFTR): c.2290C> T (p.Arg764Ter)single nucleotide variantPathogenicrs121908810GRCh37Chr 7, 117232511: 117232511
103CFTRNM_000492.3(CFTR): c.2464G> T (p.Glu822Ter)single nucleotide variantPathogenicrs397508378GRCh37Chr 7, 117232685: 117232685
104CFTRNM_000492.3(CFTR): c.2491G> T (p.Glu831Ter)single nucleotide variantPathogenicrs397508387GRCh37Chr 7, 117234984: 117234984
105CFTRNM_000492.3(CFTR): c.2537G> A (p.Trp846Ter)single nucleotide variantPathogenicrs397508393GRCh37Chr 7, 117235030: 117235030
106CFTRNM_000492.3(CFTR): c.2583delT (p.Phe861Leufs)deletionPathogenicrs397508399GRCh37Chr 7, 117235076: 117235076
107CFTRNM_000492.3(CFTR): c.2657+2_2657+3insAinsertionPathogenicrs397508414GRCh37Chr 7, 117242919: 117242920
108CFTRNM_000492.3(CFTR): c.273+1G> Asingle nucleotide variantPathogenicrs121908791GRCh37Chr 7, 117149197: 117149197
109CFTRNM_000492.3(CFTR): c.2780T> C (p.Leu927Pro)single nucleotide variantPathogenicrs397508435GRCh37Chr 7, 117243708: 117243708
110CFTRNM_000492.3(CFTR): c.2834C> T (p.Ser945Leu)single nucleotide variantPathogenicrs397508442GRCh37Chr 7, 117243762: 117243762
111CFTRNM_000492.3(CFTR): c.2875delG (p.Ala959Hisfs)deletionPathogenicrs397508447GRCh37Chr 7, 117243803: 117243803
112CFTRNM_000492.3(CFTR): c.2908G> C (p.Gly970Arg)single nucleotide variantPathogenicrs397508453GRCh37Chr 7, 117243836: 117243836
113CFTRNM_000492.3(CFTR): c.292C> T (p.Gln98Ter)single nucleotide variantPathogenicrs397508461GRCh37Chr 7, 117170971: 117170971
114CFTRNM_000492.3(CFTR): c.2989-1G> Asingle nucleotide variantPathogenicrs397508470GRCh37Chr 7, 117250572: 117250572
115CFTRNM_000492.3(CFTR): c.3230T> C (p.Leu1077Pro)single nucleotide variantPathogenicrs139304906GRCh37Chr 7, 117251725: 117251725
116CFTRNM_000492.3(CFTR): c.325_327delTATinsG (p.Tyr109Glyfs)indelPathogenicrs121908798GRCh37Chr 7, 117171004: 117171006
117CFTRNM_000492.3(CFTR): c.3310G> T (p.Glu1104Ter)single nucleotide variantPathogenicrs397508538GRCh37Chr 7, 117251805: 117251805
118CFTRNM_000492.3(CFTR): c.3612G> A (p.Trp1204Ter)single nucleotide variantPathogenicrs121908765GRCh37Chr 7, 117267719: 117267719
119CFTRNM_000492.3(CFTR): c.3731G> A (p.Gly1244Glu)single nucleotide variantPathogenicrs267606723GRCh37Chr 7, 117282505: 117282505
120CFTRNM_000492.3(CFTR): c.3731G> T (p.Gly1244Val)single nucleotide variantPathogenicrs267606723GRCh37Chr 7, 117282505: 117282505
121CFTRNM_000492.3(CFTR): c.3885dupT (p.Ser1297Phefs)duplicationPathogenicrs121908808GRCh37Chr 7, 117292906: 117292907
122CFTRNM_000492.3(CFTR): c.4077_4080delTGTTinsAA (p.Val1360Thrfs)indelPathogenicrs397508668GRCh37Chr 7, 117304855: 117304858
123CFTRNM_000492.3(CFTR): c.4251delA (p.Glu1418Argfs)deletionPathogenicrs397508706GRCh37Chr 7, 117306970: 117306970
124CFTRNM_000492.3(CFTR): c.4426C> T (p.Gln1476Ter)single nucleotide variantPathogenicrs374705585GRCh37Chr 7, 117307145: 117307145
125CFTRNM_000492.3(CFTR): c.442delA (p.Ile148Leufs)deletionPathogenicrs121908770GRCh37Chr 7, 117171121: 117171121
126CFTRNM_000492.3(CFTR): c.531delT (p.Ile177Metfs)deletionPathogenicrs121908771GRCh37Chr 7, 117174371: 117174371
127CFTRNM_000492.3(CFTR): c.577G> T (p.Glu193Ter)single nucleotide variantPathogenicrs397508759GRCh37Chr 7, 117174417: 117174417
128CFTRNM_000492.3(CFTR): c.579+3A> Gsingle nucleotide variantPathogenicrs397508761GRCh37Chr 7, 117174422: 117174422
129CFTRNM_000492.3(CFTR): c.579+5G> Asingle nucleotide variantPathogenicrs78440224GRCh37Chr 7, 117174424: 117174424
130CFTRNM_000492.3(CFTR): c.580-1G> Tsingle nucleotide variantPathogenicrs121908793GRCh37Chr 7, 117175301: 117175301
131CFTRNM_000492.3(CFTR): c.595C> T (p.His199Tyr)single nucleotide variantPathogenicrs121908802GRCh37Chr 7, 117175317: 117175317
132CFTRNM_000492.3(CFTR): c.613C> T (p.Pro205Ser)single nucleotide variantPathogenicrs121908803GRCh37Chr 7, 117175335: 117175335
133CFTRNM_000492.3(CFTR): c.658C> T (p.Gln220Ter)single nucleotide variantPathogenicrs397508778GRCh37Chr 7, 117175380: 117175380
134CFTRNM_000492.3(CFTR): c.1647T> G (p.Ser549Arg)single nucleotide variantPathogenicrs121909005GRCh37Chr 7, 117227855: 117227855
135CFTRNM_000492.3: c.1679+1.6kbA> Gundetermined variantPathogenic
136CFTRNM_000492.3(CFTR): c.2453delT (p.Leu818Trpfs)deletionPathogenicrs397515498GRCh37Chr 7, 117232674: 117232674
137CFTRNM_000492.3(CFTR): c.3964-78_4242+577deldeletionPathogenicGRCh38Chr 7, 117664610: 117666141
138CFTRNM_000492.3: c.54-5940_273+10250del21kbdeletionPathogenic
139CFTRNM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe)deletionPathogenicrs113993960GRCh37Chr 7, 117199646: 117199648
140CFTRNM_000492.3(CFTR): c.1519_1521delATC (p.Ile507del)deletionPathogenicrs121908745GRCh37Chr 7, 117199644: 117199646
141CFTRNM_000492.3(CFTR): c.1477C> T (p.Gln493Ter)single nucleotide variantPathogenicrs77101217GRCh37Chr 7, 117199602: 117199602
142CFTRNM_000492.3(CFTR): c.328G> C (p.Asp110His)single nucleotide variantPathogenicrs113993958GRCh37Chr 7, 117171007: 117171007
143CFTRNM_000492.3(CFTR): c.350G> A (p.Arg117His)single nucleotide variantLikely pathogenicrs78655421GRCh37Chr 7, 117171029: 117171029
144CFTRNM_000492.3(CFTR): c.1040G> C (p.Arg347Pro)single nucleotide variantPathogenicrs77932196GRCh37Chr 7, 117180324: 117180324
145CFTRNM_000492.3(CFTR): c.1364C> A (p.Ala455Glu)single nucleotide variantPathogenicrs74551128GRCh37Chr 7, 117188849: 117188849
146CFTRNM_000492.3(CFTR): c.1585-1G> Asingle nucleotide variantPathogenicrs76713772GRCh37Chr 7, 117227792: 117227792
147CFTRNM_000492.3(CFTR): c.1679G> C (p.Arg560Thr)single nucleotide variantPathogenicrs80055610GRCh37Chr 7, 117227887: 117227887
148CFTRNM_000492.3(CFTR): c.1687T> A (p.Tyr563Asn)single nucleotide variantPathogenicrs121909006GRCh37Chr 7, 117230414: 117230414
149CFTRNM_000492.3(CFTR): c.1624G> T (p.Gly542Ter)single nucleotide variantPathogenicrs113993959GRCh37Chr 7, 117227832: 117227832
150CFTRNM_000492.3(CFTR): c.1646G> A (p.Ser549Asn)single nucleotide variantPathogenicrs121908755GRCh37Chr 7, 117227854: 117227854
151CFTRNM_000492.3(CFTR): c.1646G> T (p.Ser549Ile)single nucleotide variantPathogenicrs121908755GRCh37Chr 7, 117227854: 117227854
152CFTRNM_000492.3(CFTR): c.1721C> A (p.Pro574His)single nucleotide variantPathogenicrs121908758GRCh37Chr 7, 117230448: 117230448
153CFTRNM_000492.3(CFTR): c.1652G> A (p.Gly551Asp)single nucleotide variantPathogenicrs75527207GRCh37Chr 7, 117227860: 117227860
154CFTRNM_000492.3(CFTR): c.2421_2422dupAT (p.Ser809Ilefs)duplicationPathogenicrs387906359GRCh37Chr 7, 117232643: 117232644
155CFTRNM_000492.3(CFTR): c.1657C> T (p.Arg553Ter)single nucleotide variantPathogenicrs74597325GRCh37Chr 7, 117227865: 117227865
156CFTRNM_000492.3(CFTR): c.1675G> A (p.Ala559Thr)single nucleotide variantPathogenicrs75549581GRCh37Chr 7, 117227883: 117227883
157CFTRNM_000492.3(CFTR): c.3659delC (p.Thr1220Lysfs)deletionPathogenicrs121908811GRCh37Chr 7, 117267766: 117267766
158CFTRNM_000492.3(CFTR): c.3764C> A (p.Ser1255Ter)single nucleotide variantPathogenicrs76649725GRCh37Chr 7, 117282538: 117282538
159CFTRNM_000492.3(CFTR): c.2538G> A (p.Trp846Ter)single nucleotide variantPathogenicrs267606722GRCh37Chr 7, 117235031: 117235031
160CFTRNM_000492.3(CFTR): c.2738A> G (p.Tyr913Cys)single nucleotide variantPathogenicrs121909008GRCh37Chr 7, 117243666: 117243666
161CFTRNM_000492.3(CFTR): c.3846G> A (p.Trp1282Ter)single nucleotide variantPathogenicrs77010898GRCh37Chr 7, 117282620: 117282620
162CFTRNM_000492.3(CFTR): c.1373G> T (p.Gly458Val)single nucleotide variantPathogenicrs121909009GRCh37Chr 7, 117188858: 117188858
163CFTRNM_000492.3(CFTR): c.3947G> A (p.Trp1316Ter)single nucleotide variantPathogenicrs121909010GRCh37Chr 7, 117292969: 117292969
164CFTRNM_000492.3(CFTR): c.1021_1022dupTC (p.Phe342Hisfs)duplicationPathogenicrs387906360GRCh37Chr 7, 117180306: 117180307
165CFTRNM_000492.3(CFTR): c.1081delT (p.Trp361Glyfs)deletionPathogenicrs387906361GRCh37Chr 7, 117180365: 117180365
166CFTRNM_000492.3(CFTR): c.3909C> G (p.Asn1303Lys)single nucleotide variantPathogenicrs80034486GRCh37Chr 7, 117292931: 117292931
167CFTRNM_000492.3(CFTR): c.3484C> T (p.Arg1162Ter)single nucleotide variantPathogenicrs74767530GRCh37Chr 7, 117267591: 117267591
168CFTRNM_000492.3(CFTR): c.3717+4A> Gsingle nucleotide variantPathogenicrs387906362GRCh37Chr 7, 117267828: 117267828
169CFTRNM_000492.3(CFTR): c.1000C> T (p.Arg334Trp)single nucleotide variantPathogenicrs121909011GRCh37Chr 7, 117180284: 117180284
170CFTRNM_000492.3(CFTR): c.1545_1546delTA (p.Tyr515Terfs)deletionPathogenicrs121908776GRCh37Chr 7, 117199670: 117199671
171CFTRNM_000492.3(CFTR): c.2551C> T (p.Arg851Ter)single nucleotide variantPathogenicrs121909012GRCh37Chr 7, 117235044: 117235044
172CFTRNM_000492.3(CFTR): c.1651G> A (p.Gly551Ser)single nucleotide variantPathogenicrs121909013GRCh37Chr 7, 117227859: 117227859
173CFTRNM_000492.3(CFTR): c.254G> A (p.Gly85Glu)single nucleotide variantPathogenicrs75961395GRCh37Chr 7, 117149177: 117149177
174CFTRNM_000492.3(CFTR): c.3472C> T (p.Arg1158Ter)single nucleotide variantPathogenicrs79850223GRCh37Chr 7, 117267579: 117267579
175CFTRNM_000492.3(CFTR): c.720_741del22 (p.Gly241Glufs)deletionPathogenicrs121908804GRCh37Chr 7, 117175442: 117175463
176CFTRNM_000492.3(CFTR): c.424delA (p.Ile142Phefs)deletionPathogenicrs387906363GRCh37Chr 7, 117171103: 117171103
177CFTRNM_000492.3(CFTR): c.429delT (p.Phe143Leufs)deletionPathogenicrs387906364GRCh37Chr 7, 117171108: 117171108
178CFTRNM_000492.3(CFTR): c.1817_1900del84 (p.Met607_Gln634del)deletionPathogenicrs121908777GRCh37Chr 7, 117232038: 117232121
179CFTRNM_000492.3(CFTR): c.2737_2738insG (p.Tyr913Terfs)insertionPathogenicrs121908788GRCh37Chr 7, 117243665: 117243666
180CFTRNM_000492.3(CFTR): c.1558G> T (p.Val520Phe)single nucleotide variantPathogenicrs77646904GRCh37Chr 7, 117199683: 117199683
181CFTRNM_000492.3(CFTR): c.1572C> A (p.Cys524Ter)single nucleotide variantPathogenicrs121908754GRCh37Chr 7, 117199697: 117199697
182CFTRNM_000492.3(CFTR): c.3873G> C (p.Gln1291His)single nucleotide variantPathogenicrs121909015GRCh37Chr 7, 117282647: 117282647
183CFTRNM_000492.3(CFTR): c.933C> G (p.Phe311Leu)single nucleotide variantPathogenicrs121909016GRCh37Chr 7, 117180217: 117180217
184CFTRNM_000492.3(CFTR): c.1093_1094delCT (p.Leu365Trpfs)deletionPathogenicrs387906365GRCh37Chr 7, 117180377: 117180378
185CFTRNM_000492.3(CFTR): c.1475C> T (p.Ser492Phe)single nucleotide variantPathogenicrs121909017GRCh37Chr 7, 117199600: 117199600
186CFTRNM_000492.3(CFTR): c.1679G> A (p.Arg560Lys)single nucleotide variantPathogenicrs80055610GRCh37Chr 7, 117227887: 117227887
187CFTRNM_000492.3(CFTR): c.2479G> T (p.Glu827Ter)single nucleotide variantPathogenicrs121909018GRCh37Chr 7, 117232700: 117232700
188CFTRNM_000492.3(CFTR): c.3197G> A (p.Arg1066His)single nucleotide variantPathogenicrs121909019GRCh37Chr 7, 117251692: 117251692
189CFTRNM_000492.3(CFTR): c.3199G> A (p.Ala1067Thr)single nucleotide variantPathogenicrs121909020GRCh37Chr 7, 117251694: 117251694
190CFTRNM_000492.3(CFTR): c.3873+1G> Asingle nucleotide variantPathogenicrs143570767GRCh37Chr 7, 117282648: 117282648
191CFTRNM_000492.3(CFTR): c.3184_3188dupCTATG (p.Trp1063Cysfs)duplicationPathogenicrs387906366GRCh37Chr 7, 117251679: 117251683
192CFTRNM_000492.3(CFTR): c.3196C> T (p.Arg1066Cys)single nucleotide variantPathogenicrs78194216GRCh37Chr 7, 117251691: 117251691
193CFTRNM_000492.3(CFTR): c.948delT (p.Phe316Leufs)deletionPathogenicrs121908744GRCh37Chr 7, 117180232: 117180232
194CFTRNM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn)single nucleotide variantPathogenicrs11971167GRCh37Chr 7, 117282582: 117282582
195CFTRNM_000492.3(CFTR): c.1727G> C (p.Gly576Ala)single nucleotide variantPathogenicrs1800098GRCh37Chr 7, 117230454: 117230454
196CFTRNM_000492.3(CFTR): c.3717+12191C> Tsingle nucleotide variantPathogenicrs75039782GRCh37Chr 7, 117280015: 117280015
197CFTRNM_000492.3(CFTR): c.3848G> T (p.Arg1283Met)single nucleotide variantPathogenicrs77902683GRCh37Chr 7, 117282622: 117282622
198CFTRNM_000492.3(CFTR): c.1766+1G> Asingle nucleotide variantPathogenicrs121908748GRCh37Chr 7, 117230494: 117230494
199CFTRNM_000492.3(CFTR): c.744-14_744-3delTGATTGATTTACdeletionPathogenicrs387906367GRCh37Chr 7, 117176588: 117176599
200CFTRNM_000492.3(CFTR): c.1040G> T (p.Arg347Leu)single nucleotide variantPathogenicrs77932196GRCh37Chr 7, 117180324: 117180324
201CFTRNM_000492.3(CFTR): c.1046C> T (p.Ala349Val)single nucleotide variantPathogenicrs121909021GRCh37Chr 7, 117180330: 117180330
202CFTRNM_000492.3(CFTR): c.1601C> A (p.Ala534Glu)single nucleotide variantPathogenicrs387906368GRCh37Chr 7, 117227809: 117227809
203CFTRNM_000492.3(CFTR): c.2146A> T (p.Lys716Ter)single nucleotide variantPathogenicrs121909023GRCh37Chr 7, 117232367: 117232367
204CFTRNM_000492.3(CFTR): c.2490+1G> Asingle nucleotide variantPathogenicrs141158996GRCh37Chr 7, 117232712: 117232712
205CFTRNM_000492.3(CFTR): c.3712C> T (p.Gln1238Ter)single nucleotide variantPathogenicrs121908766GRCh37Chr 7, 117267819: 117267819
206CFTRNM_000492.3(CFTR): c.3718-1G> Asingle nucleotide variantPathogenicrs387906369GRCh37Chr 7, 117282491: 117282491
207CFTRNM_000492.3(CFTR): c.3767dupC (p.Leu1258Phefs)duplicationPathogenicrs387906370GRCh37Chr 7, 117282542: 117282542
208CFTRNM_000492.3(CFTR): c.171G> A (p.Trp57Ter)single nucleotide variantPathogenicrs121909025GRCh37Chr 7, 117149094: 117149094
209CFTRNM_000492.3(CFTR): c.3937C> T (p.Gln1313Ter)single nucleotide variantPathogenicrs121909026GRCh37Chr 7, 117292959: 117292959
210CFTRNM_000492.3(CFTR): c.274G> A (p.Glu92Lys)single nucleotide variantPathogenicrs121908751GRCh37Chr 7, 117170953: 117170953
211CFTRNM_000492.3(CFTR): c.1040G> A (p.Arg347His)single nucleotide variantPathogenicrs77932196GRCh37Chr 7, 117180324: 117180324
212CFTRNM_000492.3(CFTR): c.271G> A (p.Gly91Arg)single nucleotide variantPathogenicrs121908750GRCh37Chr 7, 117149194: 117149194
213CFTRNM_000492.3(CFTR): c.3857T> C (p.Phe1286Ser)single nucleotide variantPathogenicrs121909028GRCh37Chr 7, 117282631: 117282631
214CFTRNM_000492.3(CFTR): c.2175dupA (p.Glu726Argfs)duplicationPathogenicrs121908787GRCh37Chr 7, 117232396: 117232397
215CFTRNM_000492.3(CFTR): c.274G> T (p.Glu92Ter)single nucleotide variantPathogenicrs121908751GRCh37Chr 7, 117170953: 117170953
216CFTRNM_000492.3(CFTR): c.1438G> T (p.Gly480Cys)single nucleotide variantPathogenicrs79282516GRCh37Chr 7, 117199563: 117199563
217CFTRNM_000492.3(CFTR): c.459_476del18 (p.Ala155_Ile160del)deletionPathogenicrs387906371GRCh37Chr 7, 117171138: 117171155
218CFTRNM_000492.3(CFTR): c.617T> G (p.Leu206Trp)single nucleotide variantPathogenicrs121908752GRCh37Chr 7, 117175339: 117175339
219CFTRCFTR, GLN524HISsingle nucleotide variantPathogenic
220CFTRNM_000492.3(CFTR): c.3763T> C (p.Ser1255Pro)single nucleotide variantPathogenicrs121909041GRCh37Chr 7, 117282537: 117282537
221CFTRNM_000492.3(CFTR): c.1013C> T (p.Thr338Ile)single nucleotide variantPathogenicrs77409459GRCh37Chr 7, 117180297: 117180297
222CFTRNM_000492.3(CFTR): c.3266G> A (p.Trp1089Ter)single nucleotide variantPathogenicrs78802634GRCh37Chr 7, 117251761: 117251761
223CFTRNM_000492.3(CFTR): c.3878_3881delTATT (p.Ile1295Phefs)deletionPathogenicrs387906373GRCh37Chr 7, 117292900: 117292903
224CFTRNM_000492.3(CFTR): c.1666A> G (p.Ile556Val)single nucleotide variantLikely pathogenicrs75789129GRCh37Chr 7, 117227874: 117227874
225CFTRNM_000492.3(CFTR): c.326A> G (p.Tyr109Cys)single nucleotide variantPathogenicrs121909031GRCh37Chr 7, 117171005: 117171005
226CFTRNM_000492.3(CFTR): c.1055G> A (p.Arg352Gln)single nucleotide variantPathogenicrs121908753GRCh37Chr 7, 117180339: 117180339
227CFTRNM_000492.3(CFTR): c.273+4A> Gsingle nucleotide variantPathogenicrs387906374GRCh37Chr 7, 117149200: 117149200
228CFTRNM_000492.3(CFTR): c.1654C> T (p.Gln552Ter)single nucleotide variantPathogenicrs76554633GRCh37Chr 7, 117227862: 117227862
229CFTRNM_000492.3(CFTR): c.1943A> T (p.Asp648Val)single nucleotide variantPathogenicrs121909033GRCh37Chr 7, 117232164: 117232164
230CFTRNM_000492.3(CFTR): c.2128A> T (p.Lys710Ter)single nucleotide variantPathogenicrs75115087GRCh37Chr 7, 117232349: 117232349
231CFTRNM_000492.3(CFTR): c.2668C> T (p.Gln890Ter)single nucleotide variantPathogenicrs79633941GRCh37Chr 7, 117243596: 117243596
232CFTRNM_000492.3(CFTR): c.2735C> T (p.Ser912Leu)single nucleotide variantPathogenicrs121909034GRCh37Chr 7, 117243663: 117243663
233CFTRNM_000492.3(CFTR): c.805_806delAT (p.Ile269Profs)deletionPathogenicrs121908773GRCh37Chr 7, 117176663: 117176664
234CFTRNM_000492.3(CFTR): c.2845C> T (p.His949Tyr)single nucleotide variantPathogenicrs121909035GRCh37Chr 7, 117243773: 117243773
235CFTRNM_000492.3(CFTR): c.3194T> C (p.Leu1065Pro)single nucleotide variantPathogenicrs121909036GRCh37Chr 7, 117251689: 117251689
236CFTRNM_000492.3(CFTR): c.3212A> C (p.Gln1071Pro)single nucleotide variantPathogenicrs121909037GRCh37Chr 7, 117251707: 117251707
237CFTRNM_000492.3(CFTR): c.3254A> G (p.His1085Arg)single nucleotide variantPathogenicrs79635528GRCh37Chr 7, 117251749: 117251749
238CFTRNM_000492.3(CFTR): c.3276C> G (p.Tyr1092Ter)single nucleotide variantPathogenicrs121908761GRCh37Chr 7, 117251771: 117251771
239CFTRNM_000492.3(CFTR): c.3611G> A (p.Trp1204Ter)single nucleotide variantPathogenicrs121908764GRCh37Chr 7, 117267718: 117267718
240CFTRNM_000492.3(CFTR): c.1083delG (p.Trp361Cysfs)deletionPathogenicrs387906375GRCh37Chr 7, 117180367: 117180367
241CFTRNM_000492.3(CFTR): c.3659C> T (p.Thr1220Ile)single nucleotide variantPathogenicrs1800123GRCh37Chr 7, 117267766: 117267766
242CFTRNM_000492.3(CFTR): c.3700A> G (p.Ile1234Val)single nucleotide variantPathogenicrs75389940GRCh37Chr 7, 117267807: 117267807
243CFTRNM_000492.3(CFTR): c.3746G> A (p.Gly1249Glu)single nucleotide variantPathogenicrs121909040GRCh37Chr 7, 117282520: 117282520
244CFTRNM_000492.3(CFTR): c.3752G> A (p.Ser1251Asn)single nucleotide variantPathogenicrs74503330GRCh37Chr 7, 117282526: 117282526
245CFTRNM_000492.3(CFTR): c.3907A> C (p.Asn1303His)single nucleotide variantPathogenicrs121909042GRCh37Chr 7, 117292929: 117292929
246CFTRNM_000492.3(CFTR): c.1477_1478delCA (p.Gln493Valfs)deletionPathogenicrs121908775GRCh37Chr 7, 117199602: 117199603
247CFTRNM_000492.3(CFTR): c.2291delG (p.Arg764Glnfs)deletionPathogenicrs387906376GRCh37Chr 7, 117232512: 117232512
248CFTRNM_000492.3(CFTR): c.3161delA (p.His1054Leufs)deletionPathogenicrs387906377GRCh37Chr 7, 117251656: 117251656
249CFTRNM_000492.3(CFTR): c.3535_3536insTCAA (p.Thr1179Ilefs)insertionPathogenicrs387906378GRCh37Chr 7, 117267642: 117267643
250CFTRNM_000492.3(CFTR): c.4364C> G (p.Ser1455Ter)single nucleotide variantPathogenicrs121909043GRCh37Chr 7, 117307083: 117307083
251CFTRNM_000492.3(CFTR): c.2988+1G> Asingle nucleotide variantPathogenicrs75096551GRCh37Chr 7, 117246808: 117246808
252CFTRNM_000492.3(CFTR): c.1658G> A (p.Arg553Gln)single nucleotide variantPathogenicrs121909044GRCh37Chr 7, 117227866: 117227866
253CFTRNM_000492.3(CFTR): c.-102A=single nucleotide variantPathogenicGRCh37Chr 7, 117120047: 117120047
254CFTRNG_016465.3: g.(37526_37529)_(58606_58609)deletionPathogenicGRCh37Chr 7, 117138363: 117159446
255CFTRNM_000492.3(CFTR): c.3469-20T> Csingle nucleotide variantPathogenicrs373002889GRCh37Chr 7, 117267556: 117267556
256CFTRNM_000492.3(CFTR): c.2991G> C (p.Leu997Phe)single nucleotide variantPathogenicrs1800111GRCh37Chr 7, 117250575: 117250575
257CFTRNM_000492.3(CFTR): c.3492dupT (p.Lys1165Terfs)duplicationPathogenicrs387906379GRCh37Chr 7, 117267599: 117267600
258CFTRNM_000492.3(CFTR): c.3744delA (p.Lys1250Argfs)deletionPathogenicrs121908784GRCh37Chr 7, 117282518: 117282518
259CFTRNM_000492.3(CFTR): c.262_263delTT (p.Leu88Ilefs)deletionPathogenicrs121908769GRCh37Chr 7, 117149185: 117149186
260CFTRCFTR, HIS1282TERundetermined variantPathogenic
261CFTRCFTR, ALA445GLUundetermined variantPathogenic
262CFTRNM_000492.3(CFTR): c.19G> T (p.Glu7Ter)single nucleotide variantPathogenicrs121909045GRCh37Chr 7, 117120167: 117120167
263CFTRNM_000492.3(CFTR): c.860dupA (p.Asn287Lysfs)duplicationPathogenicrs387906380GRCh37Chr 7, 117176718: 117176719
264CFTRNM_000492.3(CFTR): c.4056G> C (p.Gln1352His)single nucleotide variantPathogenicrs113857788GRCh37Chr 7, 117304834: 117304834
265CFTRNM_000492.3(CFTR): c.650A> G (p.Glu217Gly)single nucleotide variantPathogenicrs121909046GRCh37Chr 7, 117175372: 117175372
266CFTRNM_000492.3(CFTR): c.2735C> T (p.Ser912Leu)single nucleotide variantPathogenicrs121909034GRCh37Chr 7, 117243663: 117243663
267CFTRNM_000492.3(CFTR): c.1682C> A (p.Ala561Glu)single nucleotide variantPathogenicrs121909047GRCh37Chr 7, 117230409: 117230409

Expression for genes affiliated with Cystic Fibrosis Lung Disease, Modifier of

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Expression patterns in normal tissues for genes affiliated with Cystic Fibrosis Lung Disease, Modifier of

Search GEO for disease gene expression data for Cystic Fibrosis Lung Disease, Modifier of.

Pathways for genes affiliated with Cystic Fibrosis Lung Disease, Modifier of

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Pathways related to Cystic Fibrosis Lung Disease, Modifier of according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1TGFB1, CFTR

Compounds for genes affiliated with Cystic Fibrosis Lung Disease, Modifier of

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Compounds related to Cystic Fibrosis Lung Disease, Modifier of according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1sildenafil28 44 50 24 1113.5TGFB1, CFTR
2amiloride44 28 1111.5TGFB1, CFTR
3verapamil44 28 50 24 1113.5CFTR, TGFB1
4cytochalasin d44 6110.5TGFB1, CFTR
5citrate449.5TGFB1, CFTR
6formaldehyde44 2410.5CFTR, TGFB1
7curcumin449.4TGFB1, CFTR
8dmso449.4TGFB1, CFTR
9aspirin44 50 28 2412.4CFTR, TGFB1
10indomethacin44 28 61 1112.4TGFB1, CFTR
11butyrate449.4TGFB1, CFTR
12vitamin d449.4CFTR, TGFB1
13doxorubicin44 50 1111.4TGFB1, CFTR
14actinomycin d449.4TGFB1, CFTR
15paraffin449.3CFTR, TGFB1
16cyclosporin a44 28 6111.3TGFB1, CFTR
17glutamine449.3TGFB1, CFTR
18pge2449.2CFTR, TGFB1
19cisplatin44 50 61 1112.2TGFB1, CFTR
20dexamethasone44 50 28 1112.1TGFB1, CFTR
21retinoic acid44 2410.1TGFB1, CFTR
22alanine449.0CFTR, TGFB1
23estrogen448.8TGFB1, CFTR

GO Terms for genes affiliated with Cystic Fibrosis Lung Disease, Modifier of

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Cellular components related to Cystic Fibrosis Lung Disease, Modifier of according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.1TGFB1, CFTR
2microvillusGO:0059028.8TGFB1, CFTR

Biological processes related to Cystic Fibrosis Lung Disease, Modifier of according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to drugGO:0424939.1TGFB1, CFTR

Molecular functions related to Cystic Fibrosis Lung Disease, Modifier of according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1enzyme bindingGO:0198999.1TGFB1, CFTR

Products for genes affiliated with Cystic Fibrosis Lung Disease, Modifier of

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cystic Fibrosis Lung Disease, Modifier of

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet