GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CFTR E7Xinsufficiently evaluated pathogenicunknown

(24 web hits)

CFTR S42Finsufficiently evaluated not reviewedunknown
CFTR W57Xinsufficiently evaluated pathogenic, f=0.000unknown

(10 web hits)

CFTR E60Xinsufficiently evaluated not reviewed, f=0.000unknown

(200 web hits)

CFTR R75Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CFTR R75Xinsufficiently evaluated not reviewedunknown

(122 web hits)

CFTR G85Einsufficiently evaluated pathogenic, f=0.000recessive

Cystic Fibrosis

(872 web hits)

CFTR L88Shiftinsufficiently evaluated pathogenicunknown
CFTR G91Rinsufficiently evaluated pathogenicunknown

(121 web hits)

CFTR E92Kinsufficiently evaluated pathogenicunknown

(101 web hits)

CFTR E92Xinsufficiently evaluated pathogenicunknown

(82 web hits)

CFTR Y109Cinsufficiently evaluated pathogenicunknown

(38 web hits)

CFTR D110Hinsufficiently evaluated pathogenicunknown

(64 web hits)

CFTR R117Cinsufficiently evaluated not reviewed, f=0.000unknown

(122 web hits)

CFTR R117Hpathogenic, f=0.001recessive

This variant has a mild recessive effect. When combined with a more severe variant (e.g. F508Del), this variant can cause congenital bilateral absence of vans deferens (CBAVD, which causes male infertility) with moderate penetrance. Cystic fibrosis, however, appears to be extremely low penetrance.

(2560 web hits)

CFTR Y122Xinsufficiently evaluated not reviewedunknown

(250 web hits)

CFTR I148Tinsufficiently evaluated not reviewed, f=0.001unknown

(752 web hits)

CFTR G178Rinsufficiently evaluated not reviewedunknown

(73 web hits)

CFTR L206Winsufficiently evaluated pathogenic, f=0.000unknown

(186 web hits)

CFTR E217Ginsufficiently evaluated pathogenic, f=0.000recessive

(74 web hits)

CFTR A252Vinsufficiently evaluated not reviewedunknown

(3 web hits)

CFTR F311Linsufficiently evaluated pathogenicunknown

(33 web hits)

CFTR G330Xinsufficiently evaluated not reviewedunknown

(27 web hits)

CFTR R334Winsufficiently evaluated pathogenicrecessive

Cystic Fibrosis

(1060 web hits)

CFTR T338Iinsufficiently evaluated pathogenicunknown

(139 web hits)

CFTR R347Hinsufficiently evaluated pathogenicrecessive

Cystic Fibrosis

(408 web hits)

CFTR R347Linsufficiently evaluated pathogenicunknown

(19 web hits)

CFTR R347Pinsufficiently evaluated pathogenic, f=0.000recessive

Cystic Fibrosis

(949 web hits)

CFTR A349Vinsufficiently evaluated pathogenic, f=0.000unknown

(12 web hits)

CFTR R352Qinsufficiently evaluated pathogenicunknown

(123 web hits)

CFTR S364Pinsufficiently evaluated not reviewedunknown

(16 web hits)

CFTR I371Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS07357-1100-36-ASM
CFTR N417Kinsufficiently evaluated noneunknown
CFTR T438Ainsufficiently evaluated noneunknown
CFTR A445Einsufficiently evaluated pathogenicunknown

(26 web hits)

CFTR A455Einsufficiently evaluated pathogenic, f=0.000recessive

Cystic Fibrosis

(873 web hits)

CFTR G458Rinsufficiently evaluated noneunknown
CFTR G458Vinsufficiently evaluated pathogenicunknown

(7 web hits)

CFTR M470Vinsufficiently evaluated pathogenicunknown

(585 web hits)

CFTR V470Minsufficiently evaluated not reviewed, f=0.607unknown

(8 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
CFTR G480Cinsufficiently evaluated pathogenicunknown

(190 web hits)

CFTR S492Finsufficiently evaluated pathogenicunknown

(44 web hits)

CFTR Q493Xinsufficiently evaluated pathogenic, f=0.000unknown

(162 web hits)

CFTR I506Vinsufficiently evaluated pathogenic, f=0.000unknown

(169 web hits)

CFTR F508Delpathogenicrecessive

This is the most common variant that causes Cystic Fibrosis. It causes Cystic Fibrosis if homozygous or combined with another severely disruptive variant in this gene. It can also cause bilateral absence of the vans deferens (causing male infertility) when combined with a less disruptive variant.

CFTR F508Cinsufficiently evaluated pathogenic, f=0.001unknown

(356 web hits)

CFTR V520Finsufficiently evaluated pathogenicunknown

(239 web hits)

CFTR C524Xinsufficiently evaluated pathogenicunknown

(27 web hits)

CFTR Q524Hinsufficiently evaluated pathogenicunknown
CFTR G542Xpathogenic, f=0.002recessive

This is the second most common variant that causes Cystic Fibrosis. It causes Cystic Fibrosis if homozygous or combined with another severely disruptive variant in this gene (e.g. F508Del). Severe variants in this gene can also cause bilateral absence of the vans deferens (causing male infertility) when combined with a less disruptive variant.

(2900 web hits)

CFTR S549Iinsufficiently evaluated pathogenicunknown

(75 web hits)

CFTR S549Ninsufficiently evaluated pathogenic, f=0.000unknown

(437 web hits)

CFTR S549Rinsufficiently evaluated pathogenic, f=0.000unknown

(447 web hits)

CFTR G551Dinsufficiently evaluated pathogenic, f=0.001unknown

(4410 web hits)

CFTR G551Sinsufficiently evaluated pathogenicunknown

(92 web hits)

CFTR Q552Xinsufficiently evaluated pathogenicunknown

(134 web hits)

CFTR R553Qinsufficiently evaluated pathogenicunknown

(141 web hits)

CFTR R553Xinsufficiently evaluated pathogenic, f=0.000unknown

(1850 web hits)

CFTR A554Einsufficiently evaluated pathogenicunknown

(1 web hit)

CFTR I556Vuncertain benign, f=0.016recessive

The variant was seen homozygously in an 6yo child in a family with a history of CF — because the child was unaffected, authors concluded this is a benign polymorphism.

(23 web hits)

var-GS18947-1100-36-ASM
var-GS18956-1100-36-ASM
CFTR A559Tinsufficiently evaluated pathogenic, f=0.000unknown

(205 web hits)

CFTR R560Kinsufficiently evaluated pathogenicunknown

(103 web hits)

CFTR R560Tinsufficiently evaluated pathogenic, f=0.000unknown

(672 web hits)

CFTR A561Einsufficiently evaluated pathogenicunknown

(71 web hits)

CFTR Y563Ninsufficiently evaluated pathogenicunknown

(20 web hits)

CFTR P574Hinsufficiently evaluated pathogenicunknown

(197 web hits)

CFTR G576Apathogenic, f=0.005recessive

Associated with causing congenital bilateral absence of the vas deferens in a recessive manner. Reported cases were compound heterozygous with CFTR-F508Del.

(102 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CFTR G622Dinsufficiently evaluated not reviewed, f=0.000unknown

(64 web hits)

CFTR D648Vinsufficiently evaluated pathogenicunknown

(44 web hits)

CFTR R668Cinsufficiently evaluated benign, f=0.006unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CFTR R709Xinsufficiently evaluated not reviewedunknown

(34 web hits)

CFTR K710Xinsufficiently evaluated pathogenicunknown

(61 web hits)

CFTR K716Xinsufficiently evaluated pathogenicunknown
CFTR E827Xinsufficiently evaluated pathogenicunknown

(3 web hits)

CFTR W846Xinsufficiently evaluated pathogenicunknown

(68 web hits)

CFTR R851Xinsufficiently evaluated pathogenicunknown

(21 web hits)

CFTR Q890Xinsufficiently evaluated pathogenicunknown

(76 web hits)

CFTR S912Linsufficiently evaluated pathogenic, f=0.001unknown

(37 web hits)

CFTR Y913Cinsufficiently evaluated pathogenicunknown

(5 web hits)

CFTR H949Yinsufficiently evaluated pathogenicunknown

(27 web hits)

CFTR L997Finsufficiently evaluated pathogenic, f=0.001unknown

(234 web hits)

CFTR F1052Vpathogenicrecessive

Reported to cause “nonclassic” cystic fibrosis, presumably in a recessive manner. This report comes from ClinVar, where it was reported by LabCorp: http://www.ncbi.nlm.nih.gov/clinvar/RCV000029520/

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CFTR L1065Pinsufficiently evaluated pathogenicunknown

(76 web hits)

CFTR R1066Cinsufficiently evaluated pathogenic, f=0.000unknown

(224 web hits)

CFTR R1066Hinsufficiently evaluated pathogenicunknown

(79 web hits)

CFTR A1067Tinsufficiently evaluated pathogenic, f=0.000unknown

(11 web hits)

CFTR R1070Qinsufficiently evaluated not reviewedunknown

(47 web hits)

CFTR Q1071Pinsufficiently evaluated pathogenicunknown

(11 web hits)

CFTR H1085Rinsufficiently evaluated pathogenicunknown

(53 web hits)

CFTR W1089Xinsufficiently evaluated pathogenicunknown

(92 web hits)

CFTR Y1092Xinsufficiently evaluated pathogenic, f=0.000unknown

(185 web hits)

CFTR M1101Kinsufficiently evaluated not reviewedunknown

(170 web hits)

CFTR D1152Hinsufficiently evaluated not reviewed, f=0.000unknown

(308 web hits)

CFTR R1158Xinsufficiently evaluated pathogenicunknown

(143 web hits)

CFTR R1162Xinsufficiently evaluated pathogenic, f=0.000unknown

(980 web hits)

CFTR S1196Xinsufficiently evaluated not reviewedunknown

(41 web hits)

CFTR W1204Xinsufficiently evaluated pathogenicunknown

(45 web hits)

CFTR T1220Iinsufficiently evaluated pathogenic, f=0.000unknown

(5 web hits)

CFTR I1234Vinsufficiently evaluated pathogenicunknown

(122 web hits)

CFTR S1235Rlikely pathogenic, f=0.005recessive

Reported to cause mild dysfunction of the cystic fibrosis gene, it may result in cystic fibrosis when combined with more severe variants.

(122 web hits)

CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_H01_200_37
CFTR Q1238Xinsufficiently evaluated pathogenicunknown

(15 web hits)

CFTR G1249Einsufficiently evaluated pathogenicunknown

(65 web hits)

CFTR S1251Ninsufficiently evaluated pathogenicunknown

(174 web hits)

CFTR S1255Pinsufficiently evaluated pathogenicunknown

(77 web hits)

CFTR S1255Xinsufficiently evaluated pathogenic, f=0.000unknown

(91 web hits)

CFTR D1270Ninsufficiently evaluated pathogenic, f=0.005unknown

(189 web hits)

CFTR H1282Xinsufficiently evaluated pathogenicunknown

(4 web hits)

CFTR W1282Xinsufficiently evaluated pathogenic, f=0.000unknown

(2500 web hits)

CFTR R1283Minsufficiently evaluated pathogenicunknown

(112 web hits)

CFTR F1286Sinsufficiently evaluated pathogenicunknown

(5 web hits)

CFTR Q1291Hinsufficiently evaluated pathogenicunknown

(21 web hits)

CFTR N1303Hinsufficiently evaluated pathogenicunknown

(3 web hits)

CFTR N1303Kinsufficiently evaluated pathogenic, f=0.000unknown

(2020 web hits)

CFTR Q1313Xinsufficiently evaluated pathogenicunknown

(9 web hits)

CFTR W1316Xinsufficiently evaluated pathogenicunknown

(72 web hits)

CFTR I1328Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19238-1100-36-ASM
CFTR Q1352Hinsufficiently evaluated pathogenic, f=0.008unknown

(75 web hits)

var-GS18940-1100-36-ASM
CFTR I1366Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19669-1100-36-ASM
CFTR A1374Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS19238-1100-36-ASM
CFTR S1455Xinsufficiently evaluated pathogenicunknown

(129 web hits)

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Total results: 120

Gene search

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